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 TAS1R1 80835 broad.mit.edu 37 1 6634893 6634893 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:6634893G>T uc001ant.2 + 3 701 c.701G>T c.(700-702)GGT>GTT p.G234V TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.G234V NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 234 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CAGGCCACTGGTCAGGGGATC 0.617 7 59 --- --- --- --- PASS HNRNPR 10236 broad.mit.edu 37 1 23637423 23637423 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:23637423C>A uc001bgr.3 - 11 1585 c.1426G>T c.(1426-1428)GGT>TGT p.G476C HNRNPR_uc001bgo.2_Missense_Mutation_p.G86C|HNRNPR_uc001bgp.3_Missense_Mutation_p.G479C|HNRNPR_uc009vqk.2_Missense_Mutation_p.G378C|HNRNPR_uc001bgs.3_Missense_Mutation_p.G375C|HNRNPR_uc010odw.1_Missense_Mutation_p.G438C|HNRNPR_uc010odx.1_Missense_Mutation_p.G316C|HNRNPR_uc009vql.2_Missense_Mutation_p.G337C NM_005826 NP_005817 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 476 2.|3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) TAATCATAACCATAGTAATCA 0.403 6 120 --- --- --- --- PASS CATSPER4 378807 broad.mit.edu 37 1 26524831 26524831 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:26524831C>A uc010oez.1 + 6 733 c.733C>A c.(733-735)CAG>AAG p.Q245K CATSPER4_uc010oey.1_Missense_Mutation_p.Q67K|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 245 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CAAGCATTTCCAGAACATACA 0.532 7 202 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27057765 27057765 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:27057765C>A uc001bmv.1 + 3 1846 c.1473C>A c.(1471-1473)TCC>TCA p.S491S ARID1A_uc001bmt.1_Silent_p.S491S|ARID1A_uc001bmu.1_Silent_p.S491S|ARID1A_uc001bmw.1_Silent_p.S108S NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 491 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AACCACCGTCCCAGACCCCTC 0.602 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 8 243 --- --- --- --- PASS PUM1 9698 broad.mit.edu 37 1 31465245 31465245 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:31465245G>C uc001bsi.1 - 7 1263 c.1150C>G c.(1150-1152)CAA>GAA p.Q384E PUM1_uc001bsf.1_Missense_Mutation_p.Q45E|PUM1_uc001bsg.1_Missense_Mutation_p.Q196E|PUM1_uc001bsh.1_Missense_Mutation_p.Q384E|PUM1_uc001bsj.1_Missense_Mutation_p.Q384E|PUM1_uc010oga.1_Missense_Mutation_p.Q288E|PUM1_uc001bsk.1_Missense_Mutation_p.Q420E|PUM1_uc010ogb.1_Missense_Mutation_p.Q324E NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 384 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) ACCTGTTGTTGAGAATTGTAG 0.512 24 74 --- --- --- --- PASS PUM1 9698 broad.mit.edu 37 1 31465307 31465307 + Nonsense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:31465307G>C uc001bsi.1 - 7 1201 c.1088C>G c.(1087-1089)TCA>TGA p.S363* PUM1_uc001bsf.1_Nonsense_Mutation_p.S24*|PUM1_uc001bsg.1_Nonsense_Mutation_p.S175*|PUM1_uc001bsh.1_Nonsense_Mutation_p.S363*|PUM1_uc001bsj.1_Nonsense_Mutation_p.S363*|PUM1_uc010oga.1_Nonsense_Mutation_p.S267*|PUM1_uc001bsk.1_Nonsense_Mutation_p.S399*|PUM1_uc010ogb.1_Nonsense_Mutation_p.S303* NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 363 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CTGCGTGCCTGAATAATCAAA 0.517 37 114 --- --- --- --- PASS BAI2 576 broad.mit.edu 37 1 32221657 32221657 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:32221657C>T uc001btn.2 - 4 1135 c.781G>A c.(781-783)GAG>AAG p.E261K BAI2_uc010ogp.1_Missense_Mutation_p.E249K|BAI2_uc010ogq.1_Missense_Mutation_p.E261K|BAI2_uc001bto.2_Missense_Mutation_p.E261K|BAI2_uc001btq.1_Missense_Mutation_p.E249K|BAI2_uc010ogr.1_Missense_Mutation_p.E249K NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 261 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AAATCGGCCTCAGCAGGTGGG 0.672 17 36 --- --- --- --- PASS PHC2 1912 broad.mit.edu 37 1 33820487 33820487 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:33820487G>C uc001bxg.1 - 7 1398 c.1344C>G c.(1342-1344)TTC>TTG p.F448L PHC2_uc001bxh.1_Missense_Mutation_p.F419L|PHC2_uc009vuh.1_Missense_Mutation_p.F448L NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN polyhomeotic-like 2 isoform a 448 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AAGTGTGCTGGAACCTGCGTT 0.617 8 28 --- --- --- --- PASS DLGAP3 58512 broad.mit.edu 37 1 35334288 35334288 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:35334288C>G uc001byc.2 - 7 2403 c.2403G>C c.(2401-2403)ATG>ATC p.M801I NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 801 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CTGCCCGCAGCATCTTGATGA 0.657 9 25 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39917952 39917952 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:39917952G>T uc010oiu.1 + 51 16003 c.15872G>T c.(15871-15873)AGC>ATC p.S5291I MACF1_uc010ois.1_Missense_Mutation_p.S4789I 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) CAGGAACTGAGCACTCGCTGG 0.512 57 149 --- --- --- --- PASS SMAP2 64744 broad.mit.edu 37 1 40872518 40872518 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:40872518C>A uc001cfj.2 + 2 279 c.214C>A c.(214-216)CAG>AAG p.Q72K SMAP2_uc010ojh.1_Missense_Mutation_p.Q72K|SMAP2_uc001cfk.2_Missense_Mutation_p.Q42K|SMAP2_uc010oji.1_5'UTR NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 72 Arf-GAP. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) TAACCTCGACCAGTGGACTCA 0.453 5 77 --- --- --- --- PASS SMAP2 64744 broad.mit.edu 37 1 40879887 40879887 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:40879887G>A uc001cfj.2 + 6 611 c.546G>A c.(544-546)GCG>GCA p.A182A SMAP2_uc010ojh.1_Silent_p.A182A|SMAP2_uc001cfk.2_Silent_p.A152A|SMAP2_uc010oji.1_Silent_p.A99A|SMAP2_uc010ojj.1_5'UTR NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 182 Interaction with clathrin heavy chains (By similarity). regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) AATCCACAGCGCCTGTCATGG 0.423 20 39 --- --- --- --- PASS MAST2 23139 broad.mit.edu 37 1 46494545 46494545 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:46494545G>T uc001cov.2 + 18 2441 c.2158G>T c.(2158-2160)GTG>TTG p.V720L MAST2_uc001cow.2_Missense_Mutation_p.V720L|MAST2_uc001coy.1_Missense_Mutation_p.V394L|MAST2_uc001coz.1_Missense_Mutation_p.V605L|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 720 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) TGAGTTCCTGGTGGGCTGCGT 0.577 57 144 --- --- --- --- PASS LRRC41 10489 broad.mit.edu 37 1 46763281 46763281 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:46763281C>G uc001cpn.2 - 3 355 c.311G>C c.(310-312)CGC>CCC p.R104P LRRC41_uc010omb.1_Missense_Mutation_p.R104P|LRRC41_uc001cpo.1_Missense_Mutation_p.R104P NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 104 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CCAGAGTCGGCGCCAGATGGC 0.463 18 50 --- --- --- --- PASS C1orf87 127795 broad.mit.edu 37 1 60503689 60503689 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:60503689C>T uc001czs.1 - 6 930 c.838G>A c.(838-840)GAG>AAG p.E280K NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 280 calcium ion binding ovary(1)|breast(1) 2 CCATGACTCTCAGTTTTTCTC 0.328 10 24 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66102686 66102686 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:66102686C>T uc001dci.2 + 20 3688 c.3486C>T c.(3484-3486)GAC>GAT p.D1162D LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 1162 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGATGTGTGACCTAACTGTGT 0.343 18 61 --- --- --- --- PASS SERBP1 26135 broad.mit.edu 37 1 67895690 67895690 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:67895690G>A uc001ddv.2 - 1 434 c.294C>T c.(292-294)CCC>CCT p.P98P SERBP1_uc001ddx.2_Silent_p.P98P|SERBP1_uc001ddy.2_Silent_p.P98P|SERBP1_uc001ddw.2_Silent_p.P98P NM_001018067 NP_001018077 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 isoform 1 98 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding skin(1) 1 TAAGCGCCACGGGCGGCTGCG 0.622 27 88 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 75009592 75009592 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:75009592T>C uc001dgf.1 + 25 2485 c.2434T>C c.(2434-2436)TAT>CAT p.Y812H TNNI3K_uc001dge.1_Missense_Mutation_p.Y913H NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 812 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 TGATGCAGGCTATGTATCCGA 0.438 9 47 --- --- --- --- PASS RABGGTB 5876 broad.mit.edu 37 1 76259838 76259838 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:76259838G>T uc001dgy.1 + 8 846 c.775G>T c.(775-777)GAT>TAT p.D259Y MSH4_uc001dhd.1_5'Flank|RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Missense_Mutation_p.D213Y|RABGGTB_uc001dhc.1_RNA NM_004582 NP_004573 P53611 PGTB2_HUMAN RAB geranylgeranyltransferase, beta subunit 259 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity ovary(1) 1 TCATTGGATTGATAGAGAGAA 0.408 27 86 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79403931 79403931 + Nonsense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:79403931G>A uc001diq.3 - 5 586 c.430C>T c.(430-432)CAA>TAA p.Q144* NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 144 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) TAGACTTCTTGTAGCAAAGCC 0.308 6 16 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79403932 79403932 + Silent SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:79403932T>A uc001diq.3 - 5 585 c.429A>T c.(427-429)CTA>CTT p.L143L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 143 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) AGACTTCTTGTAGCAAAGCCA 0.308 6 16 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86437076 86437076 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:86437076C>A uc001dlj.2 - 21 2407 c.2365G>T c.(2365-2367)GGA>TGA p.G789* COL24A1_uc010osd.1_Nonsense_Mutation_p.G89*|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 789 Collagen-like 4. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CCAAGGAGTCCCTATAAAAGC 0.378 6 23 --- --- --- --- PASS BTBD8 284697 broad.mit.edu 37 1 92612763 92612763 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:92612763A>G uc001doo.2 + 8 1224 c.957A>G c.(955-957)ATA>ATG p.I319M BTBD8_uc010otc.1_RNA NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 319 nucleus ovary(1) 1 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) TGACGTCTATACTAGAATGCC 0.323 21 64 --- --- --- --- PASS CCDC18 343099 broad.mit.edu 37 1 93704969 93704969 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:93704969C>A uc001dpq.2 + 20 3228 c.3060C>A c.(3058-3060)CTC>CTA p.L1020L CCDC18_uc009wdl.1_Silent_p.L537L NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 901 Potential. L -> F (in Ref. 1; BAC86410). ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) CAATGCACCTCTCTCAATTAG 0.353 5 80 --- --- --- --- PASS SLC35A3 23443 broad.mit.edu 37 1 100477020 100477020 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:100477020G>C uc001dsp.1 + 5 762 c.565G>C c.(565-567)GCT>CCT p.A189P SLC35A3_uc001dsq.1_Missense_Mutation_p.A189P|SLC35A3_uc009wdy.1_Missense_Mutation_p.A189P|SLC35A3_uc001dsr.1_Missense_Mutation_p.A231P|SLC35A3_uc001dss.1_Missense_Mutation_p.A108P NM_012243 NP_036375 Q9Y2D2 S35A3_HUMAN solute carrier family 35 member 3A 189 Helical; (Potential). UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) AAGTGGCTTTGCTGGGGTTTA 0.353 17 60 --- --- --- --- PASS OLFM3 118427 broad.mit.edu 37 1 102270020 102270020 + Missense_Mutation SNP A C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:102270020A>C uc001duf.2 - 6 1282 c.1211T>G c.(1210-1212)CTG>CGG p.L404R OLFM3_uc001dug.2_Missense_Mutation_p.L384R|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.L309R|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 404 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GGTGACATACAGTGTCCCACA 0.463 26 71 --- --- --- --- PASS AKNAD1 254268 broad.mit.edu 37 1 109394803 109394803 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:109394803T>C uc001dwa.2 - 2 753 c.484A>G c.(484-486)AAA>GAA p.K162E AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 162 ovary(3) 3 GTTTGTTCTTTTGGCCAAGAA 0.408 4 50 --- --- --- --- PASS KCNA3 3738 broad.mit.edu 37 1 111215804 111215804 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:111215804G>A uc001dzv.1 - 1 1852 c.1628C>T c.(1627-1629)CCC>CTC p.P543L NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 543 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGGGTCTGGGGGAAAGCGCT 0.478 25 74 --- --- --- --- PASS FAM46C 54855 broad.mit.edu 37 1 118166109 118166109 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:118166109C>A uc001ehe.2 + 2 818 c.619C>A c.(619-621)CAC>AAC p.H207N NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN hypothetical protein LOC54855 207 0 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) TGAGCACTTCCACCCCACCGT 0.478 Multiple Myeloma(3;1.13e-06) 6 91 --- --- --- --- PASS UBAP2L 9898 broad.mit.edu 37 1 154221798 154221798 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:154221798C>T uc001fep.3 + 12 1265 c.1098C>T c.(1096-1098)TTC>TTT p.F366F UBAP2L_uc009wot.2_Silent_p.F366F|UBAP2L_uc010pek.1_Silent_p.F358F|UBAP2L_uc010pel.1_Silent_p.F376F|UBAP2L_uc010pen.1_Silent_p.F280F NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 366 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGGAGCAATTCAAGACTGCCC 0.527 27 70 --- --- --- --- PASS GBA 2629 broad.mit.edu 37 1 155208008 155208008 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:155208008G>A uc001fjh.2 - 6 828 c.678C>T c.(676-678)ACC>ACT p.T226T RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.T113T|GBA_uc010pfx.1_Silent_p.T177T|GBA_uc001fji.2_Silent_p.T226T|GBA_uc001fjj.2_Silent_p.T226T|GBA_uc001fjk.2_Silent_p.T226T|GBA_uc001fjl.2_Silent_p.T226T|GBA_uc010pfy.1_Silent_p.T139T|GBA_uc009wqk.1_Silent_p.T139T NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 226 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) CCGCTCCATTGGTCTTGAGCC 0.567 Gaucher_disease_type_I 11 19 --- --- --- --- PASS SMG5 23381 broad.mit.edu 37 1 156223290 156223290 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:156223290C>T uc001foc.3 - 17 2601 c.2452G>A c.(2452-2454)GAA>AAA p.E818K SMG5_uc009wrv.2_Missense_Mutation_p.E303K NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 818 Potential. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) CGACGAGCTTCCTCCTGTGCC 0.502 7 58 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156931483 156931483 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:156931483G>T uc001fqo.2 - 13 2145 c.1105C>A c.(1105-1107)CTG>ATG p.L369M ARHGEF11_uc001fqn.2_Missense_Mutation_p.L409M NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 369 RGSL. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTTTTCTCCAGGAAAATATTC 0.418 15 41 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158609764 158609764 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:158609764G>A uc001fst.1 - 34 4970 c.4771C>T c.(4771-4773)CAT>TAT p.H1591Y NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1591 Spectrin 15. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCAAGCAGATGATCCCAATGT 0.488 29 59 --- --- --- --- PASS OR6K2 81448 broad.mit.edu 37 1 158669494 158669494 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:158669494G>A uc001fsu.1 - 1 949 c.949C>T c.(949-951)CCA>TCA p.P317S NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 317 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GAGGTCCCTGGTCTTACGGAA 0.373 23 44 --- --- --- --- PASS OR10J1 26476 broad.mit.edu 37 1 159410499 159410499 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:159410499G>T uc010piv.1 + 1 951 c.951G>T c.(949-951)GGG>GGT p.G317G uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 317 Cytoplasmic (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) CTGTTGGTGGGAAGTTTTCCT 0.488 23 53 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 177030384 177030384 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:177030384C>A uc001glc.2 - 2 513 c.301G>T c.(301-303)GAG>TAG p.E101* ASTN1_uc001glb.1_Nonsense_Mutation_p.E101*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E101*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.E101* NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 101 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GGGATATCCTCTGTGTTCCCT 0.488 6 136 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180068043 180068043 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:180068043G>C uc001gnt.2 + 37 9495 c.9112G>C c.(9112-9114)GAG>CAG p.E3038Q CEP350_uc009wxl.2_Missense_Mutation_p.E3037Q|CEP350_uc001gnv.2_Missense_Mutation_p.E1173Q|CEP350_uc001gnw.1_Missense_Mutation_p.E795Q|CEP350_uc001gnx.1_Missense_Mutation_p.E795Q NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 3038 centrosome|nucleus|spindle ovary(4) 4 TCTTAAAAAGGAGCCAAACCA 0.378 10 44 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186283765 186283765 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:186283765C>G uc001grv.2 - 50 7329 c.7032G>C c.(7030-7032)CAG>CAC p.Q2344H NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 2344 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ATTCACCTCTCTGTCTGTTAA 0.353 T NTRK1 papillary thyroid 8 33 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067764 190067764 + Missense_Mutation SNP T G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:190067764T>G uc001gse.1 - 8 1917 c.1685A>C c.(1684-1686)AAC>ACC p.N562T FAM5C_uc010pot.1_Missense_Mutation_p.N460T NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 562 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CAAGGTGCTGTTTTTAGTTAA 0.458 31 59 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196952178 196952178 + Silent SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:196952178A>G uc001gts.3 + 2 350 c.222A>G c.(220-222)GAA>GAG p.E74E NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 74 Sushi 1. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 CATGCACAGAAGAAGGATGGT 0.413 17 63 --- --- --- --- PASS PPFIA4 8497 broad.mit.edu 37 1 203013100 203013100 + Silent SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:203013100A>G uc009xaj.2 + 8 819 c.819A>G c.(817-819)GAA>GAG p.E273E PPFIA4_uc010pqf.1_5'Flank O75335 LIPA4_HUMAN SubName: Full=Liprin alpha4; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 CCCGCCATGAACGGTCACTGC 0.627 5 22 --- --- --- --- PASS MDM4 4194 broad.mit.edu 37 1 204507405 204507405 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:204507405C>A uc001hba.2 + 7 642 c.480C>A c.(478-480)ACC>ACA p.T160T MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Silent_p.T33T|MDM4_uc001hay.1_Silent_p.T160T|MDM4_uc001hbb.2_Silent_p.T33T|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA NM_002393 NP_002384 O15151 MDM4_HUMAN mouse double minute 4 homolog 160 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding p.T160S(1) upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) CACTGCCTACCTCAGAGCATA 0.398 A GBM|bladder|retinoblastoma 8 177 --- --- --- --- PASS CNTN2 6900 broad.mit.edu 37 1 205039002 205039002 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:205039002G>A uc001hbr.2 + 18 2513 c.2244G>A c.(2242-2244)CTG>CTA p.L748L CNTN2_uc001hbq.1_Silent_p.L639L|CNTN2_uc001hbs.2_Silent_p.L536L NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 748 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCTACCTGCTGTCCTTCCGCA 0.662 33 68 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207785045 207785045 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:207785045C>A uc001hfy.2 + 30 5109 c.4969C>A c.(4969-4971)CTG>ATG p.L1657M CR1_uc001hfx.2_Missense_Mutation_p.L2107M NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1657 Sushi 26.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TCCAGAAATCCTGCATGGTGA 0.507 6 134 --- --- --- --- PASS ITPKB 3707 broad.mit.edu 37 1 226835066 226835066 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:226835066G>T uc010pvo.1 - 4 2388 c.2048C>A c.(2047-2049)GCT>GAT p.A683D NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 683 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) GCCATTGGCAGCTGCCTTGAA 0.612 3 6 --- --- --- --- PASS ABCB10 23456 broad.mit.edu 37 1 229667459 229667459 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:229667459C>T uc001htp.3 - 7 1402 c.1359G>A c.(1357-1359)TCG>TCA p.S453S NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 453 Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Mitochondrial matrix (Potential). integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) TCATCAGCTCCGAGTAGAAAG 0.547 17 35 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237729895 237729895 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:237729895C>A uc001hyl.1 + 28 3363 c.3243C>A c.(3241-3243)ACC>ACA p.T1081T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1081 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. 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) GCAGCGGCACCGGGGAAAGGT 0.517 19 40 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947823 237947823 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:237947823G>T uc001hyl.1 + 90 12931 c.12811G>T c.(12811-12813)GTA>TTA p.V4271L RYR2_uc010pya.1_Missense_Mutation_p.V686L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4271 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) GATGAAAAAAGTAAAAAAGAT 0.478 6 29 --- --- --- --- PASS CNST 163882 broad.mit.edu 37 1 246811036 246811036 + Silent SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:246811036T>C uc001ibp.2 + 9 1911 c.1533T>C c.(1531-1533)TGT>TGC p.C511C CNST_uc001ibo.3_Silent_p.C511C NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 511 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 ATGTGCTCTGTGGAAATAATC 0.453 26 73 --- --- --- --- PASS C1orf150 148823 broad.mit.edu 37 1 247737551 247737551 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr1:247737551T>A uc001idf.2 + 5 320 c.275T>A c.(274-276)ATT>AAT p.I92N C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_RNA NM_145278 NP_660321 Q5JQS6 CA150_HUMAN hypothetical protein LOC148823 92 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TATGAGAACATTGACTCCCTC 0.463 23 42 --- --- --- --- PASS ASAP2 8853 broad.mit.edu 37 2 9528581 9528581 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:9528581C>T uc002qzh.2 + 22 2629 c.2289C>T c.(2287-2289)TAC>TAT p.Y763Y ASAP2_uc002qzi.2_Silent_p.Y763Y NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 763 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 ATGAGACTTACGGAGCCCTCC 0.592 10 45 --- --- --- --- PASS GREB1 9687 broad.mit.edu 37 2 11752682 11752682 + Missense_Mutation SNP T G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:11752682T>G uc002rbk.1 + 19 3368 c.3068T>G c.(3067-3069)CTG>CGG p.L1023R GREB1_uc002rbp.1_Missense_Mutation_p.L21R NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1023 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CTGGAGGGTCTGCCTTGCATC 0.557 52 44 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15564444 15564444 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:15564444G>T uc002rcc.1 - 23 2598 c.2572C>A c.(2572-2574)CGG>AGG p.R858R NBAS_uc010exl.1_Silent_p.R50R|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 858 ovary(2)|liver(1)|skin(1) 4 CTCACCTGCCGAGCATAATGC 0.517 4 68 --- --- --- --- PASS GEN1 348654 broad.mit.edu 37 2 17953948 17953948 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:17953948G>A uc002rct.2 + 8 923 c.850G>A c.(850-852)GAT>AAT p.D284N SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.D284N|GEN1_uc002rcu.2_Missense_Mutation_p.D284N NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 284 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATGTAAAAGTGATAAATATTG 0.343 Homologous_recombination 14 48 --- --- --- --- PASS C2orf44 80304 broad.mit.edu 37 2 24261180 24261180 + Silent SNP T G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:24261180T>G uc002rep.2 - 2 1316 c.1185A>C c.(1183-1185)ACA>ACC p.T395T C2orf44_uc010eya.2_Silent_p.T395T NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 395 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATAGTTGGTCTGTCAAGAAAC 0.343 55 86 --- --- --- --- PASS EIF2B4 8890 broad.mit.edu 37 2 27591276 27591276 + Nonsense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:27591276G>A uc002rkb.2 - 6 696 c.553C>T c.(553-555)CAG>TAG p.Q185* EIF2B4_uc002rjz.2_Nonsense_Mutation_p.Q205*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.Q170*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.Q184*|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Nonsense_Mutation_p.Q154*|EIF2B4_uc002rkf.1_3'UTR|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank NM_001034116 NP_001029288 Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, 185 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCTGTACTGGGGTAGGTGA 0.413 29 35 --- --- --- --- PASS RBKS 64080 broad.mit.edu 37 2 28050574 28050574 + Nonsense_Mutation SNP C A A rs141229815 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:28050574C>A uc002rlo.1 - 7 666 c.655G>T c.(655-657)GAG>TAG p.E219* RBKS_uc010ezi.1_Nonsense_Mutation_p.E152*|RBKS_uc010ymg.1_Nonsense_Mutation_p.E219* NM_022128 NP_071411 Q9H477 RBSK_HUMAN ribokinase 219 D-ribose metabolic process ATP binding|ribokinase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155) AATGCAGCCTCCCCAGCATCT 0.488 12 54 --- --- --- --- PASS WDR43 23160 broad.mit.edu 37 2 29165192 29165192 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:29165192G>T uc002rmo.2 + 16 1781 c.1749G>T c.(1747-1749)GAG>GAT p.E583D NM_015131 NP_055946 Q15061 WDR43_HUMAN WD repeat domain 43 583 nucleolus ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) CAGCATCAGAGAAGACAAAGG 0.443 5 73 --- --- --- --- PASS YPEL5 51646 broad.mit.edu 37 2 30381650 30381650 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:30381650C>T uc002rna.3 + 5 868 c.307C>T c.(307-309)CGT>TGT p.R103C YPEL5_uc002rnb.3_Missense_Mutation_p.R103C|YPEL5_uc002rnc.3_Missense_Mutation_p.R103C|YPEL5_uc002rmz.3_Missense_Mutation_p.R103C|YPEL5_uc010ezn.2_RNA|YPEL5_uc002rnd.2_Missense_Mutation_p.R103C NM_001127401 NP_001120873 P62699 YPEL5_HUMAN yippee-like 5 103 peptide-methionine-(S)-S-oxide reductase activity 0 Acute lymphoblastic leukemia(172;0.155) GATCCTGGAACGTGCTCTAGT 0.473 20 88 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32740388 32740388 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:32740388C>G uc010ezu.2 + 55 11034 c.10900C>G c.(10900-10902)CTT>GTT p.L3634V NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3634 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) TTTGCCTTCTCTTCTTGTGAG 0.443 25 63 --- --- --- --- PASS STRN 6801 broad.mit.edu 37 2 37126694 37126694 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:37126694C>G uc002rpn.2 - 6 776 c.767G>C c.(766-768)AGA>ACA p.R256T STRN_uc010ezx.2_Missense_Mutation_p.R256T NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 256 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) GCTTTTCTCTCTTCCATCAAC 0.338 11 52 --- --- --- --- PASS PEX13 5194 broad.mit.edu 37 2 61258923 61258923 + Silent SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:61258923C>G uc002sau.3 + 2 545 c.462C>G c.(460-462)GTC>GTG p.V154V NM_002618 NP_002609 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 154 Targeting to peroxisomes.|Lumenal (Potential). cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) TTTCAGCTGTCTATAACAGTT 0.398 58 93 --- --- --- --- PASS ZNF638 27332 broad.mit.edu 37 2 71577240 71577240 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:71577240G>T uc002shx.2 + 2 1475 c.1156G>T c.(1156-1158)GGT>TGT p.G386C ZNF638_uc010fec.2_Missense_Mutation_p.G492C|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.G386C|ZNF638_uc002shy.2_Missense_Mutation_p.G386C|ZNF638_uc002shz.2_Missense_Mutation_p.G386C|ZNF638_uc002sia.2_Missense_Mutation_p.G386C|ZNF638_uc002sib.1_Missense_Mutation_p.G386C NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 386 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GTCTCCCTTTGGTATTGTGAA 0.408 6 111 --- --- --- --- PASS IMMT 10989 broad.mit.edu 37 2 86371396 86371396 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:86371396C>G uc002sqz.3 - 15 2660 c.2272G>C c.(2272-2274)GAG>CAG p.E758Q IMMT_uc002sqy.3_Missense_Mutation_p.E499Q|IMMT_uc002srb.3_Missense_Mutation_p.E747Q|IMMT_uc002sra.3_Missense_Mutation_p.E757Q|IMMT_uc010ytd.1_Missense_Mutation_p.E746Q|IMMT_uc010yte.1_Missense_Mutation_p.E711Q NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 758 Mitochondrial intermembrane (Potential). E -> D (in Ref. 3; CAG33074). integral to mitochondrial inner membrane protein binding skin(1) 1 AAACCTCACTCTGGCTGCACC 0.473 20 49 --- --- --- --- PASS IMMT 10989 broad.mit.edu 37 2 86371740 86371740 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:86371740C>T uc002sqz.3 - 15 2316 c.1928G>A c.(1927-1929)CGA>CAA p.R643Q IMMT_uc002sqy.3_Missense_Mutation_p.R384Q|IMMT_uc002srb.3_Missense_Mutation_p.R632Q|IMMT_uc002sra.3_Missense_Mutation_p.R642Q|IMMT_uc010ytd.1_Missense_Mutation_p.R631Q|IMMT_uc010yte.1_Missense_Mutation_p.R596Q NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 643 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 TGCTACCCTTCGGGCCAGTTT 0.512 28 128 --- --- --- --- PASS ITPRIPL1 150771 broad.mit.edu 37 2 96993213 96993213 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:96993213G>A uc002svx.2 + 3 1179 c.844G>A c.(844-846)GTG>ATG p.V282M ITPRIPL1_uc010yuk.1_Missense_Mutation_p.V274M|ITPRIPL1_uc002svy.2_Missense_Mutation_p.V290M|ITPRIPL1_uc010yul.1_Missense_Mutation_p.V274M NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 282 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 CCTAGGGGACGTGCTGTGCCT 0.612 11 11 --- --- --- --- PASS CKAP2L 150468 broad.mit.edu 37 2 113509924 113509924 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:113509924C>A uc002tie.2 - 5 1601 c.1522G>T c.(1522-1524)GAG>TAG p.E508* CKAP2L_uc002tif.2_Nonsense_Mutation_p.E97*|CKAP2L_uc010yxp.1_Nonsense_Mutation_p.E343*|CKAP2L_uc010yxq.1_Nonsense_Mutation_p.E343* NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 508 centrosome 0 TTTTCTTCCTCTTCTTTTTCA 0.353 5 114 --- --- --- --- PASS PCDP1 200373 broad.mit.edu 37 2 120388460 120388460 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:120388460G>A uc002tmb.2 + 20 2191 c.1099G>A c.(1099-1101)GAT>AAT p.D367N PCDP1_uc010yyq.1_Missense_Mutation_p.D497N NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 653 cilium calmodulin binding 0 Colorectal(110;0.196) TCTAGATTATGATCCTCTGTA 0.443 43 98 --- --- --- --- PASS CFC1B 653275 broad.mit.edu 37 2 131356251 131356251 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:131356251C>A uc002tro.1 - 3 602 c.211G>T c.(211-213)GAG>TAG p.E71* NM_001079530 NP_001072998 P0CG36 CFC1B_HUMAN cripto, FRL-1, cryptic family 1B 71 gastrulation extracellular region 0 Colorectal(110;0.1) AGCGGCTCCTCCGGCCCCCAG 0.622 4 20 --- --- --- --- PASS ZRANB3 84083 broad.mit.edu 37 2 135975078 135975078 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:135975078C>T uc002tum.2 - 17 2569 c.2452G>A c.(2452-2454)GAA>AAA p.E818K ZRANB3_uc002tuk.2_Missense_Mutation_p.E361K|ZRANB3_uc002tul.2_Missense_Mutation_p.E816K NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 818 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) GTGATCTCTTCCAAAGCAAGA 0.343 10 33 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141739765 141739765 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:141739765C>A uc002tvj.1 - 18 3823 c.2851G>T c.(2851-2853)GAC>TAC p.D951Y LRP1B_uc010fnl.1_Missense_Mutation_p.D133Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 951 Extracellular (Potential).|LDL-receptor class A 5. 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) TCACCACAGTCGTCTTCCCTG 0.443 TSP Lung(27;0.18) 24 49 --- --- --- --- PASS NR4A2 4929 broad.mit.edu 37 2 157182288 157182288 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:157182288C>G uc002tyz.3 - 8 2187 c.1765G>C c.(1765-1767)GAC>CAC p.D589H NR4A2_uc002tyx.3_Missense_Mutation_p.D526H|NR4A2_uc010zcf.1_Missense_Mutation_p.D589H NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 589 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 AAAAGTTTGTCAATTATTGCT 0.478 21 57 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179593231 179593231 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:179593231C>T uc010zfg.1 - 63 15914 c.15690G>A c.(15688-15690)GTG>GTA p.V5230V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V1891V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6157 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) ACAAACCTAGCACTCTTAAGT 0.398 14 33 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179634819 179634819 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:179634819T>A uc010zfg.1 - 36 8833 c.8609A>T c.(8608-8610)CAA>CTA p.Q2870L TTN_uc010zfh.1_Missense_Mutation_p.Q2824L|TTN_uc010zfi.1_Missense_Mutation_p.Q2824L|TTN_uc010zfj.1_Missense_Mutation_p.Q2824L|TTN_uc002unb.2_Missense_Mutation_p.Q2870L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2870 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) GCATTCCAATTGCCCGACCAC 0.473 22 58 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179647559 179647559 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:179647559C>T uc010zfg.1 - 18 3298 c.3074G>A c.(3073-3075)AGC>AAC p.S1025N TTN_uc010zfh.1_Missense_Mutation_p.S979N|TTN_uc010zfi.1_Missense_Mutation_p.S979N|TTN_uc010zfj.1_Missense_Mutation_p.S979N|TTN_uc002unb.2_Missense_Mutation_p.S1025N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1025 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) GCAGGATGTGCTGACGGTTCC 0.502 11 22 --- --- --- --- PASS MFSD6 54842 broad.mit.edu 37 2 191353382 191353382 + Splice_Site SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:191353382G>T uc002urz.2 + 5 1955 c.1631_splice c.e5-1 p.G544_splice MFSD6_uc010zge.1_Splice_Site_p.G6_splice NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing transmembrane transport integral to membrane ovary(2) 2 TTCCTCTCCAGGAGTGACACA 0.488 5 73 --- --- --- --- PASS MAP2 4133 broad.mit.edu 37 2 210559200 210559200 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:210559200T>C uc002vde.1 + 7 2554 c.2306T>C c.(2305-2307)ATA>ACA p.I769T MAP2_uc002vdc.1_Missense_Mutation_p.I769T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.I765T NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 769 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GAAGAACAGATAGAGAAAGTA 0.438 17 44 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211469956 211469956 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:211469956T>A uc002vee.3 + 17 2099 c.1967T>A c.(1966-1968)ATG>AAG p.M656K CPS1_uc010fur.2_Missense_Mutation_p.M662K|CPS1_uc010fus.2_Missense_Mutation_p.M205K NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 656 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GTTGATGCCATGGGTGTTCAC 0.398 17 47 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211469957 211469957 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:211469957G>T uc002vee.3 + 17 2100 c.1968G>T c.(1966-1968)ATG>ATT p.M656I CPS1_uc010fur.2_Missense_Mutation_p.M662I|CPS1_uc010fus.2_Missense_Mutation_p.M205I NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 656 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTGATGCCATGGGTGTTCACA 0.393 18 47 --- --- --- --- PASS CXCR2 3579 broad.mit.edu 37 2 218999763 218999763 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:218999763G>A uc002vgz.1 + 4 464 c.239G>A c.(238-240)CGC>CAC p.R80H CXCR2_uc002vha.1_Missense_Mutation_p.R80H|CXCR2_uc002vhb.1_Missense_Mutation_p.R80H NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 80 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 AGGGTCGGCCGCTCCGTCACT 0.542 42 80 --- --- --- --- PASS TTLL4 9654 broad.mit.edu 37 2 219603028 219603028 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:219603028C>A uc002viy.2 + 3 999 c.629C>A c.(628-630)TCT>TAT p.S210Y TTLL4_uc010zkl.1_Missense_Mutation_p.S45Y|TTLL4_uc010fvx.2_Missense_Mutation_p.S210Y NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 210 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCTCCACTCTCTTCCTCCTAT 0.527 5 81 --- --- --- --- PASS EPHA4 2043 broad.mit.edu 37 2 222428692 222428692 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:222428692C>A uc002vmq.2 - 3 624 c.582G>T c.(580-582)CTG>CTT p.L194L EPHA4_uc002vmr.2_Silent_p.L194L|EPHA4_uc010zlm.1_Silent_p.L135L|EPHA4_uc010zln.1_Silent_p.L194L NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 194 Cys-rich.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GGACTGATACCAGGGCGATGC 0.522 5 83 --- --- --- --- PASS PAX3 5077 broad.mit.edu 37 2 223086078 223086078 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:223086078C>A uc010fwo.2 - 6 1187 c.821G>T c.(820-822)TGG>TTG p.W274L PAX3_uc002vmt.1_Missense_Mutation_p.W274L|PAX3_uc002vmy.1_Missense_Mutation_p.W273L|PAX3_uc002vmv.1_Missense_Mutation_p.W274L|PAX3_uc002vmw.1_Missense_Mutation_p.W274L|PAX3_uc002vmx.1_Missense_Mutation_p.W274L NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 274 Homeobox. apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGCTTCCTCCATCTTGCACG 0.448 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 7 116 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228135633 228135633 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:228135633G>T uc002vom.1 + 25 1885 c.1723G>T c.(1723-1725)GGA>TGA p.G575* COL4A3_uc002von.1_Nonsense_Mutation_p.G575*|COL4A3_uc002voo.1_Nonsense_Mutation_p.G575*|COL4A3_uc002vop.1_Nonsense_Mutation_p.G575*|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 575 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TGGAACTCCGGGAGTGAAAGG 0.498 5 43 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230638891 230638891 + Silent SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:230638891T>A uc002vpw.1 - 37 5500 c.5391A>T c.(5389-5391)CCA>CCT p.P1797P TRIP12_uc002vpx.1_Silent_p.P1845P|TRIP12_uc002vpy.1_Silent_p.P1527P NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1797 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGGGAAACCCTGGCAGAGTGA 0.408 31 63 --- --- --- --- PASS CHRNG 1146 broad.mit.edu 37 2 233404757 233404757 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:233404757C>A uc002vsx.1 + 2 132 c.111C>A c.(109-111)TAC>TAA p.Y37* CHRNG_uc010fyd.2_Nonsense_Mutation_p.Y37*|CHRNG_uc010fye.1_Nonsense_Mutation_p.Y37* NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 37 Extracellular (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) TGCAAAACTACGACCCCAACC 0.617 6 30 --- --- --- --- PASS TATDN2 9797 broad.mit.edu 37 3 10311830 10311830 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:10311830G>T uc003bvg.2 + 4 1545 c.964G>T c.(964-966)GTG>TTG p.V322L TATDN2_uc003bvf.2_Missense_Mutation_p.V322L|TATDN2_uc011atr.1_Missense_Mutation_p.V322L|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA NM_014760 NP_055575 Q93075 TATD2_HUMAN TatD DNase domain containing 2 322 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding pancreas(2) 2 AGATAGGGAGGTGGTGATGGA 0.507 20 54 --- --- --- --- PASS SYN2 6854 broad.mit.edu 37 3 12224840 12224840 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:12224840G>T uc003bwm.2 + 15 1501 c.1337G>T c.(1336-1338)AGC>ATC p.S446I SYN2_uc003bwl.1_Missense_Mutation_p.S446I|SYN2_uc003bwn.2_Missense_Mutation_p.S120I NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 446 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 CCGGACTCAAGCAAGACCCCA 0.458 7 36 --- --- --- --- PASS NUP210 23225 broad.mit.edu 37 3 13395089 13395089 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:13395089C>A uc003bxv.1 - 18 2676 c.2593G>T c.(2593-2595)GAG>TAG p.E865* NUP210_uc003bxw.2_Nonsense_Mutation_p.E41*|NUP210_uc003bxx.2_Nonsense_Mutation_p.E537* NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 865 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) AGGTGGGACTCCTGGTAGCCA 0.587 9 17 --- --- --- --- PASS ITGA9 3680 broad.mit.edu 37 3 37778403 37778403 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:37778403C>T uc003chd.2 + 20 2216 c.2163C>T c.(2161-2163)TTC>TTT p.F721F NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 721 Extracellular (Potential). axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) AGTATGAATTCAGCGTGATCT 0.433 8 31 --- --- --- --- PASS ZNF197 10168 broad.mit.edu 37 3 44670938 44670938 + Missense_Mutation SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:44670938A>T uc003cnm.2 + 2 498 c.292A>T c.(292-294)ATT>TTT p.I98F ZNF197_uc003cnn.2_Missense_Mutation_p.I98F|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.I98F NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 98 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GCCTGGGGAGATTCGGACCTG 0.592 23 52 --- --- --- --- PASS LARS2 23395 broad.mit.edu 37 3 45588986 45588986 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:45588986G>T uc003cop.1 + 22 2861 c.2676G>T c.(2674-2676)CCG>CCT p.P892P LARS2_uc010hit.1_Silent_p.P849P NM_015340 NP_056155 Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 892 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) TCCTTTCCCCGAGAACTGCCC 0.557 4 104 --- --- --- --- PASS PTPN23 25930 broad.mit.edu 37 3 47452148 47452148 + Nonsense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:47452148C>T uc003crf.1 + 20 2956 c.2860C>T c.(2860-2862)CAG>TAG p.Q954* PTPN23_uc011baw.1_Nonsense_Mutation_p.Q919*|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Nonsense_Mutation_p.Q824* NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 954 6 X 2 AA approximate tandem repeats of P- Q.|1.|Pro-rich.|His. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GATTGGgccccagccccagcc 0.507 5 12 --- --- --- --- PASS ARIH2 10425 broad.mit.edu 37 3 49006060 49006060 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:49006060G>T uc003cvb.2 + 7 944 c.632G>T c.(631-633)AGG>ATG p.R211M ARIH2_uc003cvc.2_Missense_Mutation_p.R211M|ARIH2_uc003cvf.2_Missense_Mutation_p.R129M|ARIH2_uc010hkl.2_Missense_Mutation_p.R211M NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 211 IBR-type. developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) GAGAAATACAGGCGCTACCTC 0.443 7 167 --- --- --- --- PASS MST1R 4486 broad.mit.edu 37 3 49935084 49935084 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:49935084C>G uc003cxy.3 - 6 2179 c.1915G>C c.(1915-1917)GAG>CAG p.E639Q MST1R_uc011bdd.1_Missense_Mutation_p.E639Q|MST1R_uc011bdc.1_5'Flank NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 639 IPT/TIG 1.|Extracellular (Potential). cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AGTTCACACTCAAACTCCTCT 0.607 12 37 --- --- --- --- PASS SFMBT1 51460 broad.mit.edu 37 3 52966255 52966255 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:52966255C>A uc003dgf.2 - 7 1092 c.523G>T c.(523-525)GAC>TAC p.D175Y SFMBT1_uc010hmr.2_Missense_Mutation_p.D122Y|SFMBT1_uc003dgg.2_Missense_Mutation_p.D175Y|SFMBT1_uc003dgh.2_Missense_Mutation_p.D175Y NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 175 MBT 2. regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTTAAAGAGTCCTGGAAAGCT 0.398 22 46 --- --- --- --- PASS ARHGEF3 50650 broad.mit.edu 37 3 56779335 56779335 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:56779335G>T uc003dig.2 - 7 937 c.768C>A c.(766-768)CTC>CTA p.L256L ARHGEF3_uc011bew.1_Silent_p.L256L|ARHGEF3_uc003dih.2_Silent_p.L288L|ARHGEF3_uc011bev.1_Silent_p.L227L|ARHGEF3_uc003dif.2_Silent_p.L262L|ARHGEF3_uc010hmy.1_Silent_p.L54L|ARHGEF3_uc003dii.2_Silent_p.L256L NM_019555 NP_062455 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 isoform 256 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) TTGGAATATCGAGGAAATTCC 0.468 5 218 --- --- --- --- PASS PTPRG 5793 broad.mit.edu 37 3 62216897 62216897 + Splice_Site SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:62216897A>G uc003dlb.2 + 14 3008 c.2289_splice c.e14-2 p.R763_splice PTPRG_uc003dlc.2_Intron|PTPRG_uc011bfi.1_Intron NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TTGTCCATTTAGAGGGTGTAA 0.473 4 21 --- --- --- --- PASS PRICKLE2 166336 broad.mit.edu 37 3 64085478 64085478 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:64085478G>T uc003dmf.2 - 8 2370 c.1784C>A c.(1783-1785)TCG>TAG p.S595* NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 595 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CTGCATGGACGAGTTAAGAGT 0.552 5 144 --- --- --- --- PASS LRIG1 26018 broad.mit.edu 37 3 66430866 66430866 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:66430866C>T uc003dmx.2 - 19 3117 c.3103G>A c.(3103-3105)GAG>AAG p.E1035K SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.E655K|LRIG1_uc003dmw.2_Missense_Mutation_p.E701K|LRIG1_uc010hnz.2_Missense_Mutation_p.E751K|LRIG1_uc010hoa.2_Missense_Mutation_p.E1012K NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 1035 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GGCTGTAGCTCTGTGGAGTCC 0.532 50 102 --- --- --- --- PASS FOXP1 27086 broad.mit.edu 37 3 71015079 71015079 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:71015079C>T uc003dol.2 - 16 2174 c.1851G>A c.(1849-1851)GAG>GAA p.E617E FOXP1_uc003dom.2_Silent_p.E541E|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.E616E|FOXP1_uc003dop.2_Silent_p.E617E|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Silent_p.E517E|FOXP1_uc003doj.2_Silent_p.E517E|FOXP1_uc003dok.2_Silent_p.E430E NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 617 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TGCTGTCACTCTCGTTGCTGT 0.532 T PAX5 ALL 40 89 --- --- --- --- PASS ARL6 84100 broad.mit.edu 37 3 97506911 97506911 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:97506911G>T uc003drv.2 + 7 740 c.427G>T c.(427-429)GTG>TTG p.V143L ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.V143L|ARL6_uc010hoy.2_Missense_Mutation_p.V143L NM_177976 NP_816931 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 143 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding 0 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) ATCTGTAAAAGTGTCTCAGTT 0.303 Bardet-Biedl_syndrome 23 33 --- --- --- --- PASS OR5H15 403274 broad.mit.edu 37 3 97887902 97887902 + Missense_Mutation SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:97887902A>T uc011bgu.1 + 1 359 c.359A>T c.(358-360)TAT>TTT p.Y120F NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 120 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ACAATGGCATATGATCGCTAT 0.378 22 99 --- --- --- --- PASS LNP1 348801 broad.mit.edu 37 3 100170718 100170718 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:100170718C>A uc003dtx.3 + 3 1592 c.312C>A c.(310-312)TCC>TCA p.S104S LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA NM_001085451 NP_001078920 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 104 0 AAGGAAGATCCCATTCCAAAA 0.428 6 122 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109047782 109047782 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:109047782G>T uc003dxq.3 - 6 888 c.833C>A c.(832-834)CCC>CAC p.P278H DPPA4_uc011bho.1_Silent_p.T179T NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 278 nucleus protein binding upper_aerodigestive_tract(1) 1 AAGGTGCGGGGGTGGAAAATT 0.473 18 25 --- --- --- --- PASS WDR52 55779 broad.mit.edu 37 3 113122773 113122773 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:113122773G>A uc003eae.1 - 9 1142 c.1096C>T c.(1096-1098)CAC>TAC p.H366Y NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 366 WD 4. central_nervous_system(1) 1 GGACCATTGTGACATGACTTG 0.478 38 158 --- --- --- --- PASS ARHGAP31 57514 broad.mit.edu 37 3 119134028 119134028 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:119134028C>T uc003ecj.3 + 12 3784 c.3252C>T c.(3250-3252)CAC>CAT p.H1084H NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1084 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 CTGGAGAGCACCCCGCAAAGT 0.572 7 230 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124397067 124397067 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:124397067G>T uc003ehg.2 + 50 7351 c.7224G>T c.(7222-7224)ATG>ATT p.M2408I KALRN_uc003ehk.2_Missense_Mutation_p.M711I NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2407 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CTCTACGCATGAGAAAGCGGG 0.493 6 153 --- --- --- --- PASS CCDC37 348807 broad.mit.edu 37 3 126132997 126132997 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:126132997A>G uc003eiu.1 + 4 299 c.200A>G c.(199-201)GAT>GGT p.D67G CCDC37_uc010hsg.1_Missense_Mutation_p.D67G NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 67 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) TTGCTCAGAGATCAGGAGCGG 0.562 91 161 --- --- --- --- PASS RAB43 339122 broad.mit.edu 37 3 128852967 128852967 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:128852967C>T uc003elo.1 - 9 824 c.613G>A c.(613-615)GAG>AAG p.E205K ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Missense_Mutation_p.E205K|ISY1_uc010hta.1_Missense_Mutation_p.E227K NM_020701 NP_065752 Q86YS6 RAB43_HUMAN ISY1 splicing factor homolog Error:Variant_position_missing_in_Q86YS6_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding lung(1) 1 tcttcctcctcctcttcctTT 0.448 21 66 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 150876568 150876568 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:150876568G>T uc003eyp.2 + 6 857 c.819G>T c.(817-819)TTG>TTT p.L273F MED12L_uc011bnz.1_Missense_Mutation_p.L273F|MED12L_uc003eym.1_Missense_Mutation_p.L273F|MED12L_uc003eyn.2_Missense_Mutation_p.L273F|MED12L_uc003eyo.2_Missense_Mutation_p.L273F NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 273 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTAAACTCTTGCTACCACTAA 0.388 18 34 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164773014 164773014 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:164773014G>T uc003fei.2 - 13 1542 c.1480C>A c.(1480-1482)CAT>AAT p.H494N NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 494 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACTTCTTGATGGAAAATACTG 0.348 HNSCC(35;0.089) 22 73 --- --- --- --- PASS GHSR 2693 broad.mit.edu 37 3 172163133 172163133 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:172163133C>T uc003fib.1 - 2 919 c.919G>A c.(919-921)GTG>ATG p.V307M NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 307 Helical; Name=7; (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) ACAAAGGACACGAGGTTGCAG 0.507 27 93 --- --- --- --- PASS YEATS2 55689 broad.mit.edu 37 3 183476656 183476656 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:183476656C>A uc003fly.2 + 13 1754 c.1559C>A c.(1558-1560)CCT>CAT p.P520H NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 520 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCAGGAAGTCCTACAAACAAG 0.383 6 137 --- --- --- --- PASS HTR3C 170572 broad.mit.edu 37 3 183776363 183776363 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:183776363G>C uc003fmk.2 + 6 742 c.708G>C c.(706-708)CAG>CAC p.Q236H NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 236 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TATATGACCAGATCATGTTTT 0.502 27 76 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193207607 193207607 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr3:193207607C>A uc003ftd.2 - 7 758 c.650G>T c.(649-651)TGG>TTG p.W217L ATP13A4_uc003fte.1_Missense_Mutation_p.W217L|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 217 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTCACTAAACCACAAACAGAC 0.353 5 117 --- --- --- --- PASS HAUS3 79441 broad.mit.edu 37 4 2241768 2241768 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:2241768G>A uc003ges.1 - 2 1136 c.906C>T c.(904-906)AGC>AGT p.S302S POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Silent_p.S302S|HAUS3_uc003get.1_Silent_p.S302S NM_024511 NP_078787 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 302 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle large_intestine(2)|breast(2) 4 TGCTTACCTTGCTGGTTAGGC 0.353 19 43 --- --- --- --- PASS FAM193A 8603 broad.mit.edu 37 4 2673998 2673998 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:2673998C>A uc010icl.2 + 11 1708 c.1357C>A c.(1357-1359)CCT>ACT p.P453T FAM193A_uc010ick.2_Missense_Mutation_p.P653T|FAM193A_uc003gfd.2_Missense_Mutation_p.P453T|FAM193A_uc011bvm.1_Missense_Mutation_p.P475T|FAM193A_uc011bvn.1_Missense_Mutation_p.P453T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.P307T NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 453 ovary(3) 3 GCACCTTTACCCTCACATCCA 0.567 6 53 --- --- --- --- PASS STK32B 55351 broad.mit.edu 37 4 5448438 5448438 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:5448438G>A uc003gih.1 + 7 665 c.601G>A c.(601-603)GGA>AGA p.G201R STK32B_uc010ida.1_Missense_Mutation_p.G154R NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 201 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 CAGAGGCCCCGGATACTCGTA 0.577 16 41 --- --- --- --- PASS KCNIP4 80333 broad.mit.edu 37 4 20751284 20751284 + Splice_Site SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:20751284C>T uc003gqe.2 - 4 462 c.378_splice c.e4+1 p.E126_splice KCNIP4_uc003gqf.1_Splice_Site_p.E122_splice|KCNIP4_uc003gqg.1_Splice_Site_p.E81_splice|KCNIP4_uc003gqh.1_Splice_Site_p.E118_splice|KCNIP4_uc003gqi.1_Splice_Site_p.E81_splice|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Splice_Site_p.E123_splice|KCNIP4_uc003gqd.3_Splice_Site_p.E106_splice NM_147182 NP_671711 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 3 plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) CCAGAGCTTACCTCGAAACTC 0.353 5 18 --- --- --- --- PASS GPR125 166647 broad.mit.edu 37 4 22449131 22449131 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:22449131G>C uc003gqm.1 - 5 742 c.477C>G c.(475-477)AAC>AAG p.N159K GPR125_uc010ieo.1_Missense_Mutation_p.N33K|GPR125_uc003gqo.2_Missense_Mutation_p.N159K NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 159 Extracellular (Potential).|LRR 4. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) TCCCCGAAAGGTTTCTGAAAG 0.264 9 33 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 30724912 30724912 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:30724912C>G uc003gsk.1 + 1 2876 c.1868C>G c.(1867-1869)ACT>AGT p.T623S PCDH7_uc011bxw.1_Missense_Mutation_p.T576S|PCDH7_uc011bxx.1_Missense_Mutation_p.T623S NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 623 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CAGGGCAGCACTACGGTGATT 0.488 18 48 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47597740 47597740 + Nonstop_Mutation SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:47597740A>T uc003gxm.2 - 22 3220 c.3127T>A c.(3127-3129)TAA>AAA p.*1043K CORIN_uc011bzf.1_Nonstop_Mutation_p.*904K|CORIN_uc011bzg.1_Nonstop_Mutation_p.*976K NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 1043 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CCTTATAATTAGTTTAGGAGA 0.413 15 55 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55970835 55970835 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:55970835G>T uc003has.2 - 13 2264 c.1962C>A c.(1960-1962)TGC>TGA p.C654* KDR_uc003hat.1_Nonsense_Mutation_p.C654*|KDR_uc011bzx.1_Nonsense_Mutation_p.C654* NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 654 Ig-like C2-type 6.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GCCTGACCACGCAATGTCTTT 0.463 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 5 8 --- --- --- --- PASS CLOCK 9575 broad.mit.edu 37 4 56308750 56308750 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:56308750G>C uc003haz.1 - 22 2880 c.1954C>G c.(1954-1956)CAG>GAG p.Q652E CLOCK_uc003hba.1_Missense_Mutation_p.Q652E|CLOCK_uc010igu.1_RNA NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 652 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.Q652K(1) central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CTCTGTGTCTGACTGGGTAGA 0.403 14 34 --- --- --- --- PASS C4orf35 85438 broad.mit.edu 37 4 71201572 71201572 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:71201572C>A uc003hff.2 + 1 902 c.816C>A c.(814-816)ACC>ACA p.T272T NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 272 flagellum calcium ion binding 0 all_hematologic(202;0.196) AACTCACTACCTCTGCTGAAA 0.408 6 75 --- --- --- --- PASS PARM1 25849 broad.mit.edu 37 4 75938085 75938085 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:75938085C>A uc003hih.1 + 2 734 c.494C>A c.(493-495)CCA>CAA p.P165Q NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN prostatic androgen-repressed message-1 165 Extracellular (Potential). positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane ovary(1) 1 TCAACCTCACCACCTGAGGTC 0.592 8 272 --- --- --- --- PASS G3BP2 9908 broad.mit.edu 37 4 76570869 76570869 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:76570869C>A uc003hir.2 - 12 1359 c.1194G>T c.(1192-1194)GGG>GGT p.G398G G3BP2_uc003his.2_Silent_p.G398G|G3BP2_uc003hit.2_Silent_p.G365G NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 398 RRM. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AACGTACTTCCCCTCGAAACA 0.403 8 27 --- --- --- --- PASS PLA2G12A 81579 broad.mit.edu 37 4 110635635 110635635 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:110635635C>A uc003hzp.2 - 4 745 c.468G>T c.(466-468)GTG>GTT p.V156V PLA2G12A_uc010img.2_Silent_p.V154V NM_030821 NP_110448 Q9BZM1 PG12A_HUMAN phospholipase A2, group XIIA precursor 156 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity 0 OV - Ovarian serous cystadenocarcinoma(123;0.000268) ACAAGAGCTCCACTGTTGTTT 0.408 7 123 --- --- --- --- PASS CAMK2D 817 broad.mit.edu 37 4 114378622 114378622 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:114378622G>A uc003ibi.2 - 17 2161 c.1302C>T c.(1300-1302)CTC>CTT p.L434L CAMK2D_uc003ibj.2_Silent_p.L434L|CAMK2D_uc003ibk.2_Silent_p.L434L|CAMK2D_uc003ibo.3_Silent_p.L468L|CAMK2D_uc003ibm.2_Silent_p.L448L|CAMK2D_uc003ibn.2_Silent_p.L445L|CAMK2D_uc003ibl.2_Silent_p.L434L NM_001221 NP_001212 Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II 434 interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) TGTACTGTGTGAGCCTAATAT 0.463 33 85 --- --- --- --- PASS GAB1 2549 broad.mit.edu 37 4 144387363 144387363 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:144387363C>A uc003ije.2 + 9 2270 c.1911C>A c.(1909-1911)TCC>TCA p.S637S GAB1_uc003ijd.2_Silent_p.S667S|GAB1_uc011chq.1_Silent_p.S534S NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 637 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) CTGGGAAATCCACACCACCAC 0.413 5 72 --- --- --- --- PASS PRMT10 90826 broad.mit.edu 37 4 148605110 148605110 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:148605110C>A uc003ilc.2 - 1 171 c.29G>T c.(28-30)CGA>CTA p.R10L PRMT10_uc003ild.2_5'UTR NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 10 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 CCCGGCGTCTCGGCGGGACCT 0.607 6 11 --- --- --- --- PASS SH3D19 152503 broad.mit.edu 37 4 152095916 152095916 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:152095916C>A uc010ipl.1 - 7 1690 c.600G>T c.(598-600)TTG>TTT p.L200F SH3D19_uc003imc.2_Missense_Mutation_p.L200F|SH3D19_uc003ime.2_Missense_Mutation_p.L200F|SH3D19_uc010ipm.2_Missense_Mutation_p.L200F NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 200 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) CGATGTCCACCAAGGGCTTGC 0.552 8 204 --- --- --- --- PASS FAM198B 51313 broad.mit.edu 37 4 159052033 159052033 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:159052033C>A uc003ipp.3 - 4 1709 c.1257G>T c.(1255-1257)AAG>AAT p.K419N FAM198B_uc003ipq.3_Missense_Mutation_p.K427N|FAM198B_uc003ipr.3_Missense_Mutation_p.K419N NM_016613 NP_057697 Q6UWH4 F198B_HUMAN hypothetical protein LOC51313 isoform 2 419 Extracellular (Potential). Golgi membrane|integral to membrane 0 TTGGGTCATGCTTTCGCTGGA 0.423 10 49 --- --- --- --- PASS C4orf46 201725 broad.mit.edu 37 4 159592877 159592877 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:159592877G>C uc003iqa.2 - 1 326 c.77C>G c.(76-78)TCT>TGT p.S26C C4orf46_uc010iqp.1_Intron|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank NM_001008393 NP_001008394 Q504U0 CD046_HUMAN hypothetical protein LOC201725 26 skin(1) 1 AGATGCTGCAGAGGCGTCTGA 0.667 6 7 --- --- --- --- PASS C4orf39 152756 broad.mit.edu 37 4 165878325 165878325 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:165878325G>T uc003iqx.1 + 1 226 c.151G>T c.(151-153)GGC>TGC p.G51C TRIM61_uc003iqw.2_Intron NM_153027 NP_694572 Q96MZ4 CD039_HUMAN hypothetical protein LOC152756 51 0 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.146) TACGCTGACCGGCGGCCGCCA 0.617 4 2 --- --- --- --- PASS KIAA1712 80817 broad.mit.edu 37 4 175231093 175231093 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:175231093G>T uc003itr.2 + 8 1185 c.771G>T c.(769-771)AGG>AGT p.R257S KIAA1712_uc010iro.2_Missense_Mutation_p.R257S|KIAA1712_uc003its.2_RNA NM_001040157 NP_001035247 Q9C0F1 CEP44_HUMAN HBV PreS1-transactivated protein 3 isoform a 257 Potential. centrosome|midbody|spindle pole 0 Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949) TAGAGAAAAGGTTAGACTGTT 0.353 11 31 --- --- --- --- PASS ANKH 56172 broad.mit.edu 37 5 14711350 14711350 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:14711350C>A uc003jfm.3 - 12 1766 c.1435G>T c.(1435-1437)GAG>TAG p.E479* ANKH_uc003jfl.3_Nonsense_Mutation_p.E192* NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 479 Cytoplasmic (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 GTCACCTCCTCTGTCGGAGGC 0.537 6 149 --- --- --- --- PASS MAST4 375449 broad.mit.edu 37 5 66460893 66460893 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:66460893C>A uc003jut.1 + 28 5387 c.5319C>A c.(5317-5319)TCC>TCA p.S1773S MAST4_uc003juw.2_Silent_p.S1701S|MAST4_uc003jux.2_5'Flank NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1965 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CTGAAGCTTCCCCCTCAAGGG 0.642 4 10 --- --- --- --- PASS FER 2241 broad.mit.edu 37 5 108290449 108290449 + Missense_Mutation SNP T G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:108290449T>G uc003kop.1 + 12 1733 c.1349T>G c.(1348-1350)ATC>AGC p.I450S FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.I275S NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 450 intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) ATGATCTCCATCAGTGAGAAG 0.318 3 14 --- --- --- --- PASS PJA2 9867 broad.mit.edu 37 5 108714608 108714608 + Nonsense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:108714608G>A uc003kos.3 - 4 800 c.580C>T c.(580-582)CAG>TAG p.Q194* NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 194 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) AATGATTCCTGGTATCTACTA 0.418 19 53 --- --- --- --- PASS YTHDC2 64848 broad.mit.edu 37 5 112899572 112899572 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:112899572A>G uc003kqn.2 + 20 2642 c.2459A>G c.(2458-2460)GAT>GGT p.D820G NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 820 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GATGCAATGGATACATGGGAA 0.363 23 55 --- --- --- --- PASS AQPEP 206338 broad.mit.edu 37 5 115351326 115351326 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:115351326T>C uc003kro.2 + 18 2784 c.2620T>C c.(2620-2622)TAT>CAT p.Y874H AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 874 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 CTTTTGCAGATATATGGAGTA 0.328 7 17 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127597470 127597470 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:127597470G>T uc003kuu.2 - 64 8761 c.8322C>A c.(8320-8322)GAC>GAA p.D2774E NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2774 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCTGCCTGCTGTCTTTCTTAG 0.463 12 61 --- --- --- --- PASS TGFBI 7045 broad.mit.edu 37 5 135388688 135388688 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:135388688G>A uc003lbf.3 + 8 1167 c.1006G>A c.(1006-1008)GAG>AAG p.E336K TGFBI_uc003lbg.3_Missense_Mutation_p.E69K|TGFBI_uc003lbh.3_Missense_Mutation_p.E162K|TGFBI_uc011cyb.1_Missense_Mutation_p.E162K|TGFBI_uc010jed.2_Missense_Mutation_p.E69K NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 336 FAS1 2. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CACGACACTGGAGGTGGGCTG 0.552 23 29 --- --- --- --- PASS KDM3B 51780 broad.mit.edu 37 5 137761207 137761207 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:137761207G>C uc003lcy.1 + 17 4547 c.4347G>C c.(4345-4347)AGG>AGC p.R1449S KDM3B_uc010jew.1_Missense_Mutation_p.R1105S|KDM3B_uc011cys.1_Missense_Mutation_p.R481S NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1449 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 TGAACTGCAGGAACTGTGCTA 0.443 23 66 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156731318 156731318 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:156731318G>T uc003lwq.2 + 10 877 c.739G>T c.(739-741)GAT>TAT p.D247Y CYFIP2_uc011ddn.1_Missense_Mutation_p.D221Y|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.D247Y|CYFIP2_uc003lws.2_Missense_Mutation_p.D247Y|CYFIP2_uc003lwt.2_Missense_Mutation_p.D125Y|CYFIP2_uc011ddp.1_Intron|CYFIP2_uc003lwp.2_Missense_Mutation_p.D125Y NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 247 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATCTGTGTGGATTACTACGA 0.532 20 48 --- --- --- --- PASS ADRA1B 147 broad.mit.edu 37 5 159398990 159398990 + Missense_Mutation SNP A C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:159398990A>C uc003lxt.1 + 2 1227 c.1054A>C c.(1054-1056)AGC>CGC p.S352R NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 352 Cytoplasmic (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) CCCATGCTCCAGCAAGGAGTT 0.488 9 26 --- --- --- --- PASS GABRG2 2566 broad.mit.edu 37 5 161495049 161495049 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:161495049C>A uc003lyz.3 + 1 402 c.44C>A c.(43-45)TCG>TAG p.S15* GABRG2_uc010jjc.2_Nonsense_Mutation_p.S15*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.S15*|GABRG2_uc011dej.1_5'UTR NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 15 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TCAGTCTACTCGACTCCTGTA 0.468 4 73 --- --- --- --- PASS PANK3 79646 broad.mit.edu 37 5 167995926 167995926 + Nonsense_Mutation SNP C A A rs71603869 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:167995926C>A uc003lzz.1 - 2 406 c.106G>T c.(106-108)GAG>TAG p.E36* NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 36 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TGCTCTTCCTCTGCTGTGATA 0.408 5 75 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170337973 170337973 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:170337973G>A uc003mba.2 + 7 611 c.595G>A c.(595-597)GTG>ATG p.V199M RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_3'UTR|RANBP17_uc011dew.1_Missense_Mutation_p.V199M NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 199 V -> A (in Ref. 3; BAB55427). mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTTTTTCAGGTGTTTGCCAA 0.308 T TRD@ ALL 16 48 --- --- --- --- PASS HMP19 51617 broad.mit.edu 37 5 173534370 173534370 + Silent SNP C G G rs11557147 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:173534370C>G uc003mcx.2 + 5 523 c.378C>G c.(376-378)CCC>CCG p.P126P HMP19_uc011dfh.1_Missense_Mutation_p.P30R NM_015980 NP_057064 Q9Y328 NSG2_HUMAN HMP19 protein 126 Lumenal (Potential). dopamine receptor signaling pathway cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane dopamine receptor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCCAGGACCCCAATTCCAGAA 0.592 17 37 --- --- --- --- PASS SFXN1 94081 broad.mit.edu 37 5 174919163 174919163 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:174919163C>G uc003mda.2 + 2 195 c.57C>G c.(55-57)AGC>AGG p.S19R SFXN1_uc003mdb.1_5'UTR NM_022754 NP_073591 Q9H9B4 SFXN1_HUMAN sideroflexin 1 19 iron ion homeostasis integral to membrane cation transmembrane transporter activity|protein binding ovary(1) 1 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGGATCAAAGCACTTTCATTG 0.448 15 34 --- --- --- --- PASS ZNF454 285676 broad.mit.edu 37 5 178391831 178391831 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr5:178391831C>T uc003mjo.1 + 5 697 c.426C>T c.(424-426)CTC>CTT p.L142L ZNF454_uc010jkz.1_Silent_p.L142L NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GAGTGGTACTCACTCACCCCA 0.488 12 36 --- --- --- --- PASS CDKAL1 54901 broad.mit.edu 37 6 20546619 20546619 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:20546619T>C uc003ndc.1 + 3 212 c.38T>C c.(37-39)ATC>ACC p.I13T CDKAL1_uc003ndd.1_Missense_Mutation_p.I13T|CDKAL1_uc003nde.1_5'UTR|CDKAL1_uc010jpo.1_Missense_Mutation_p.I13T|CDKAL1_uc003ndb.1_Missense_Mutation_p.I13T NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 13 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CTGGATGACATCGAAGATATC 0.358 56 46 --- --- --- --- PASS HIST1H2BM 8342 broad.mit.edu 37 6 27783015 27783015 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:27783015C>G uc003njo.2 + 1 194 c.194C>G c.(193-195)TCC>TGC p.S65C HIST1H2AJ_uc003njn.1_5'Flank NM_003521 NP_003512 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 65 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(1) 1 ATCATGAACTCCTTCGTCAAC 0.567 64 76 --- --- --- --- PASS GPX5 2880 broad.mit.edu 37 6 28493833 28493833 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:28493833C>A uc003nll.2 + 1 45 c.43C>A c.(43-45)CTA>ATA p.L15I GPX5_uc003nlm.2_Missense_Mutation_p.L15I|GPX5_uc003nln.2_5'Flank NM_001509 NP_001500 O75715 GPX5_HUMAN glutathione peroxidase 5 isoform 1 precursor 15 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity skin(1) 1 Glutathione(DB00143) TCCCCTTCTCCTAGCCTGCTT 0.507 7 238 --- --- --- --- PASS HLA-A 3105 broad.mit.edu 37 6 29911087 29911087 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:29911087C>A uc003nol.2 + 3 386 c.386C>A c.(385-387)TCG>TAG p.S129* HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_Nonsense_Mutation_p.S8*|HLA-A_uc003nok.2_Nonsense_Mutation_p.S8*|HLA-A_uc003non.2_Nonsense_Mutation_p.S129*|HLA-A_uc003noo.2_Nonsense_Mutation_p.S129*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.S129*|HLA-A_uc003nom.2_Nonsense_Mutation_p.S8*|HLA-A_uc010klp.2_Nonsense_Mutation_p.S101*|HLA-A_uc011dmc.1_Nonsense_Mutation_p.S8*|HLA-A_uc011dmd.1_Nonsense_Mutation_p.S8* NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 129 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 GACGTGGGGTCGGACGGGCGC 0.687 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 11 5 --- --- --- --- PASS MUC21 394263 broad.mit.edu 37 6 30954993 30954993 + Silent SNP C T T rs55809174 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:30954993C>T uc003nsh.2 + 2 1292 c.1041C>T c.(1039-1041)AAC>AAT p.N347N MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 347 Ser-rich.|28 X 15 AA approximate tandem repeats.|22.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 CAGCCACCAACTCTGAGTCCA 0.627 6 157 --- --- --- --- PASS APOM 55937 broad.mit.edu 37 6 31624395 31624395 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:31624395C>A uc003nvl.2 + 2 334 c.261C>A c.(259-261)ACC>ACA p.T87T APOM_uc003nvk.2_Silent_p.T15T NM_019101 NP_061974 O95445 APOM_HUMAN apolipoprotein M 87 cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity 0 TTCGTGCTACCATCCGCATGT 0.542 5 75 --- --- --- --- PASS HLA-DQA1 3117 broad.mit.edu 37 6 32610020 32610020 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:32610020G>T uc003obr.2 + 3 656 c.603G>T c.(601-603)CTG>CTT p.L201L HLA-DQA1_uc003obs.2_RNA|HLA-DQA1_uc003obt.1_Silent_p.L201L|HLA-DQA1_uc003obu.2_5'Flank NM_002122 NP_002113 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ 200 Ig-like C1-type.|Alpha-2.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 AGCCTCTTCTGAAACACTGGG 0.428 11 19 --- --- --- --- PASS HLA-DQA2 3118 broad.mit.edu 37 6 32713839 32713839 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:32713839G>T uc003obx.2 + 3 661 c.603G>T c.(601-603)CTG>CTT p.L201L NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 201 Alpha-2.|Extracellular (Potential).|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGCCTCTTCTGAAACACTGGG 0.498 16 104 --- --- --- --- PASS HLA-DOB 3112 broad.mit.edu 37 6 32781028 32781028 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:32781028C>A uc003oca.2 - 6 884 c.787G>T c.(787-789)GTC>TTC p.V263F NM_002120 NP_002111 P13765 DOB_HUMAN major histocompatibility complex, class II, DO 263 Cytoplasmic (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity skin(1) 1 GCTCTTGAGACCTGGAGGCAC 0.572 42 39 --- --- --- --- PASS PSMB8 5696 broad.mit.edu 37 6 32808780 32808780 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:32808780C>A uc003oce.2 - 6 830 c.787G>T c.(787-789)GAT>TAT p.D263Y TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003occ.2_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.D259Y NM_148919 NP_683720 P28062 PSB8_HUMAN proteasome beta 8 subunit isoform E2 proprotein 263 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|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity skin(1) 1 TCACTGACATCTGTACTTTCT 0.512 30 29 --- --- --- --- PASS PGK2 5232 broad.mit.edu 37 6 49754273 49754273 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:49754273C>A uc003ozu.2 - 1 735 c.628G>T c.(628-630)GCT>TCT p.A210S NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 210 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) CCAAGTATAGCCAGAAAGGGT 0.433 18 51 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56334983 56334983 + Silent SNP A C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:56334983A>C uc003pdf.2 - 90 16090 c.16062T>G c.(16060-16062)CTT>CTG p.L5354L DST_uc003pcz.3_Silent_p.L5176L|DST_uc011dxj.1_Silent_p.L5205L|DST_uc011dxk.1_Silent_p.L5216L|DST_uc003pcy.3_Silent_p.L4850L|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'Flank NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7262 EF-hand 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATTTGGGTGAAGGGCTGCTA 0.413 8 17 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69653726 69653726 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:69653726C>T uc003pev.3 + 6 1483 c.1035C>T c.(1033-1035)CAC>CAT p.H345H BAI3_uc010kak.2_Silent_p.H345H NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 345 Extracellular (Potential).|TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TTACAGTACACGGAGTATGGG 0.373 14 56 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72957822 72957822 + Nonsense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:72957822C>T uc003pga.2 + 12 2310 c.2233C>T c.(2233-2235)CAA>TAA p.Q745* RIMS1_uc011dyb.1_Nonsense_Mutation_p.Q371*|RIMS1_uc003pgc.2_Nonsense_Mutation_p.Q371*|RIMS1_uc010kaq.2_Nonsense_Mutation_p.Q219*|RIMS1_uc011dyc.1_Nonsense_Mutation_p.Q219*|RIMS1_uc010kar.2_Nonsense_Mutation_p.Q138*|RIMS1_uc011dyd.1_Nonsense_Mutation_p.Q204*|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Nonsense_Mutation_p.Q371*|RIMS1_uc010kas.1_Nonsense_Mutation_p.Q204* NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 745 C2 1. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTTACCAGGGCAACTTTCTGT 0.408 24 47 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79672829 79672829 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:79672829G>T uc003pir.2 - 30 3746 c.3520C>A c.(3520-3522)CAG>AAG p.Q1174K PHIP_uc003piq.2_Missense_Mutation_p.Q198K|PHIP_uc011dyp.1_Missense_Mutation_p.Q1173K|PHIP_uc003pio.3_Missense_Mutation_p.Q60K NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1174 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) GTCATCAACTGGTTTATTCCT 0.378 6 156 --- --- --- --- PASS DOPEY1 23033 broad.mit.edu 37 6 83861601 83861601 + Splice_Site SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:83861601G>T uc003pjs.1 + 29 6165 c.5905_splice c.e29-1 p.D1969_splice DOPEY1_uc011dyy.1_Splice_Site_p.D1960_splice|DOPEY1_uc010kbl.1_Splice_Site_p.D1960_splice|DOPEY1_uc003pjt.2_Splice_Site NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TATTTTTTTAGGATGTAACTC 0.353 5 61 --- --- --- --- PASS ORC3L 23595 broad.mit.edu 37 6 88362927 88362927 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:88362927G>C uc003pmh.2 + 14 1520 c.1476G>C c.(1474-1476)AAG>AAC p.K492N ORC3L_uc011dzl.1_Missense_Mutation_p.K492N|ORC3L_uc011dzm.1_Missense_Mutation_p.K492N|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.K492N|ORC3L_uc003pmi.2_Missense_Mutation_p.K454N|ORC3L_uc011dzo.1_Missense_Mutation_p.K349N|ORC3L_uc011dzp.1_Missense_Mutation_p.K349N NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 492 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) GCACAGCTAAGAGAATAGAGG 0.408 16 72 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90387321 90387321 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:90387321G>T uc003pnn.1 - 76 12623 c.12507C>A c.(12505-12507)TCC>TCA p.S4169S NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4169 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGCTGACGATGGACAATGCGC 0.438 5 57 --- --- --- --- PASS PRDM1 639 broad.mit.edu 37 6 106547368 106547368 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:106547368G>C uc003prd.2 + 4 839 c.605G>C c.(604-606)CGG>CCG p.R202P PRDM1_uc003pre.2_Missense_Mutation_p.R68P NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 202 SET. negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TGGTATTGTCGGGACTTTGCA 0.453 D|N|Mis|F|S DLBCL 13 31 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152746534 152746534 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:152746534G>T uc010kiw.2 - 39 5851 c.5249C>A c.(5248-5250)CCA>CAA p.P1750Q SYNE1_uc003qot.3_Missense_Mutation_p.P1757Q|SYNE1_uc003qou.3_Missense_Mutation_p.P1750Q|SYNE1_uc010kjb.1_Missense_Mutation_p.P1733Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1750 Spectrin 2.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATGATCTGTGGTAAATCTCT 0.313 HNSCC(10;0.0054) 4 41 --- --- --- --- PASS MAP3K4 4216 broad.mit.edu 37 6 161507647 161507647 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:161507647C>T uc003qtn.2 + 9 2646 c.2504C>T c.(2503-2505)TCA>TTA p.S835L MAP3K4_uc010kkc.1_Missense_Mutation_p.S835L|MAP3K4_uc003qto.2_Missense_Mutation_p.S835L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.S288L NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 835 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TTCAGGCTTTCAGCCCCAGTT 0.358 13 29 --- --- --- --- PASS TNRC18 84629 broad.mit.edu 37 7 5352184 5352184 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:5352184C>A uc003soi.3 - 27 8687 c.8338G>T c.(8338-8340)GCC>TCC p.A2780S NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2780 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCAGGAAGGCGGCGATCTTG 0.711 4 13 --- --- --- --- PASS MIOS 54468 broad.mit.edu 37 7 7636041 7636041 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:7636041C>A uc003srf.2 + 11 2658 c.2350C>A c.(2350-2352)CGA>AGA p.R784R MIOS_uc003srg.2_Silent_p.R319R|MIOS_uc010ktq.2_Silent_p.R179R NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 784 0 ACCACTTCCTCGATGTGCGCT 0.413 4 85 --- --- --- --- PASS HOXA13 3209 broad.mit.edu 37 7 27237878 27237878 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:27237878C>A uc003szb.1 - 2 1135 c.1106G>T c.(1105-1107)TGG>TTG p.W369L uc003szc.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN homeobox A13 369 Homeobox. skeletal system development nucleus sequence-specific DNA binding breast(1) 1 GTTCTGGAACCAGATTGTGAC 0.423 T NUP98 AML 6 93 --- --- --- --- PASS CCM2 83605 broad.mit.edu 37 7 45115438 45115438 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:45115438G>T uc003tmo.2 + 10 1263 c.1117G>T c.(1117-1119)GGC>TGC p.G373C CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.G315C|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.G282C|CCM2_uc003tms.2_Missense_Mutation_p.G394C NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 373 endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 GGAGACCATTGGCGTGAAGGA 0.602 Familial_Cerebral_Cavernous_Angioma 4 26 --- --- --- --- PASS CLIP2 7461 broad.mit.edu 37 7 73803542 73803542 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:73803542C>T uc003uam.2 + 13 3000 c.2673C>T c.(2671-2673)GCC>GCT p.A891A CLIP2_uc003uan.2_Silent_p.A856A NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 891 Potential. microtubule associated complex skin(3) 3 CCCATGACGCCTCGGGCCAGC 0.677 3 15 --- --- --- --- PASS GTF2IRD1 9569 broad.mit.edu 37 7 73929890 73929890 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:73929890C>T uc003uaq.2 + 4 778 c.385C>T c.(385-387)CGG>TGG p.R129W GTF2IRD1_uc010lbq.2_Missense_Mutation_p.R161W|GTF2IRD1_uc003uap.2_Missense_Mutation_p.R129W|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R129W NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 129 GTF2I-like 1. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 GTACCTTCTGCGGAAGATGGT 0.602 8 23 --- --- --- --- PASS DTX2 113878 broad.mit.edu 37 7 76112361 76112361 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:76112361G>C uc003uff.3 + 5 1361 c.805G>C c.(805-807)GCA>CCA p.A269P DTX2_uc011kgk.1_Missense_Mutation_p.A178P|DTX2_uc003ufg.3_Missense_Mutation_p.A269P|DTX2_uc003ufh.3_Missense_Mutation_p.A269P|DTX2_uc003ufj.3_Missense_Mutation_p.A269P NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 269 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 CGCCTGGGGCGCAGCTCCTCC 0.672 14 43 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81388038 81388038 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:81388038C>T uc003uhl.2 - 3 502 c.337G>A c.(337-339)GGC>AGC p.G113S HGF_uc003uhm.2_Missense_Mutation_p.G113S|HGF_uc003uhn.1_Missense_Mutation_p.G113S|HGF_uc003uho.1_Missense_Mutation_p.G113S|HGF_uc003uhp.2_Missense_Mutation_p.G113S NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 113 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 AATTCATGGCCAAATTCTTTT 0.323 10 43 --- --- --- --- PASS CASD1 64921 broad.mit.edu 37 7 94178901 94178901 + Missense_Mutation SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:94178901A>T uc003uni.3 + 14 1997 c.1770A>T c.(1768-1770)AAA>AAT p.K590N CASD1_uc003unj.3_Missense_Mutation_p.K590N NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 590 integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TTGAACTGAAAGGGAATGTAT 0.333 27 110 --- --- --- --- PASS LMTK2 22853 broad.mit.edu 37 7 97800947 97800947 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:97800947C>T uc003upd.1 + 7 1045 c.752C>T c.(751-753)GCG>GTG p.A251V NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 251 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GAGGTCGCCGCGGGGCTGGCC 0.672 20 22 --- --- --- --- PASS TFEC 22797 broad.mit.edu 37 7 115594691 115594691 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:115594691C>T uc003vhj.1 - 5 572 c.388G>A c.(388-390)GAC>AAC p.D130N TFEC_uc003vhk.1_Missense_Mutation_p.D101N|TFEC_uc003vhl.3_Missense_Mutation_p.D101N|TFEC_uc011kmw.1_Missense_Mutation_p.D220N NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 130 Basic motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) GCTCTAGTGTCAGTTTCTGAT 0.318 6 34 --- --- --- --- PASS TSPAN33 340348 broad.mit.edu 37 7 128806698 128806698 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:128806698G>T uc003vop.1 + 6 768 c.539G>T c.(538-540)CGA>CTA p.R180L TSPAN33_uc003voq.1_Missense_Mutation_p.R12L NM_178562 NP_848657 Q86UF1 TSN33_HUMAN tetraspanin 33 180 Extracellular (Potential). integral to membrane ovary(1) 1 AACCCCAGTCGAGAGCGCTGC 0.527 7 283 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131883284 131883284 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:131883284C>A uc003vra.3 - 13 2927 c.2698G>T c.(2698-2700)GAG>TAG p.E900* NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 900 IPT/TIG 1.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GGGCTGCACTCCACGCCAGCA 0.577 25 30 --- --- --- --- PASS TTC26 79989 broad.mit.edu 37 7 138819449 138819449 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:138819449G>A uc003vus.2 + 2 166 c.52G>A c.(52-54)GAC>AAC p.D18N TTC26_uc003vuq.2_Missense_Mutation_p.D18N|TTC26_uc011kqm.1_Missense_Mutation_p.D18N|TTC26_uc003vur.3_Missense_Mutation_p.D18N|TTC26_uc011kqn.1_Missense_Mutation_p.D18N|TTC26_uc011kqo.1_Missense_Mutation_p.D18N|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.D18N NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 18 binding ovary(1) 1 ACAGCACACTGACAAAAGAAA 0.413 29 41 --- --- --- --- PASS ACTR3B 57180 broad.mit.edu 37 7 152517413 152517413 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr7:152517413C>G uc003wle.1 + 7 687 c.570C>G c.(568-570)ATC>ATG p.I190M ACTR3B_uc003wlf.1_Missense_Mutation_p.I190M|ACTR3B_uc003wlg.1_Missense_Mutation_p.I102M|ACTR3B_uc011kvp.1_Missense_Mutation_p.I102M NM_020445 NP_065178 Q9P1U1 ARP3B_HUMAN actin-related protein 3-beta isoform 1 190 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding 0 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) GAAGCTGCATCAAACACATCC 0.502 14 24 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3216692 3216692 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:3216692G>T uc011kwk.1 - 21 3679 c.3289C>A c.(3289-3291)CCT>ACT p.P1097T CSMD1_uc011kwj.1_Missense_Mutation_p.P489T|CSMD1_uc003wqe.2_Missense_Mutation_p.P253T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1097 Sushi 6.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTTGGCAGAGGTGCACTCCAC 0.587 16 32 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3889546 3889546 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:3889546C>G uc011kwk.1 - 4 881 c.491G>C c.(490-492)GGA>GCA p.G164A NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 164 Extracellular (Potential).|Sushi 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GATTTTGTCTCCTATGTTGAA 0.488 15 27 --- --- --- --- PASS LETM2 137994 broad.mit.edu 37 8 38257911 38257911 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:38257911C>A uc003xlm.1 + 5 797 c.626C>A c.(625-627)TCA>TAA p.S209* LETM2_uc011lbn.1_Nonsense_Mutation_p.S53*|LETM2_uc003xll.1_Nonsense_Mutation_p.S161*|LETM2_uc003xln.1_Nonsense_Mutation_p.S53*|LETM2_uc003xlo.1_Nonsense_Mutation_p.S53* NM_144652 NP_653253 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane 256 LETM1.|Mitochondrial matrix (Potential). integral to membrane|mitochondrial inner membrane 0 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) ACACAGCTCTCATCCTACGTG 0.453 11 466 --- --- --- --- PASS NSMAF 8439 broad.mit.edu 37 8 59514692 59514692 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:59514692C>A uc003xtt.2 - 14 1264 c.1050G>T c.(1048-1050)TTG>TTT p.L350F NSMAF_uc011lee.1_Missense_Mutation_p.L381F|NSMAF_uc003xtu.2_Missense_Mutation_p.L350F NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 350 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) CTGGATTTGACAAATCTATAA 0.368 23 62 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61765798 61765798 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:61765798G>A uc003xue.2 + 31 6991 c.6514G>A c.(6514-6516)GAA>AAA p.E2172K NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2172 Glu-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGAACAAGCCGAAGGCAAAGT 0.498 7 30 --- --- --- --- PASS C8orf34 116328 broad.mit.edu 37 8 69688634 69688634 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:69688634G>T uc010lyz.2 + 11 1196 c.1147G>T c.(1147-1149)GGA>TGA p.G383* C8orf34_uc003xyb.2_Nonsense_Mutation_p.G358* NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 383 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TTACTTCTAGGGAGAAGCCTC 0.398 5 80 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87660080 87660080 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:87660080G>T uc003ydx.2 - 8 985 c.939C>A c.(937-939)TGC>TGA p.C313* CNGB3_uc010maj.2_Nonsense_Mutation_p.C175* NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 313 Helical; Name=H3; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 AGAAGAGGTAGCAAATATCAA 0.313 28 45 --- --- --- --- PASS SLC26A7 115111 broad.mit.edu 37 8 92330528 92330528 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:92330528A>G uc003yex.2 + 6 840 c.562A>G c.(562-564)ACC>GCC p.T188A SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.T188A|SLC26A7_uc003yfa.2_Missense_Mutation_p.T188A NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 188 Extracellular (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) TGGGGCTGCCACCCATGTGGT 0.468 39 64 --- --- --- --- PASS LRP12 29967 broad.mit.edu 37 8 105509802 105509802 + Missense_Mutation SNP G C C rs138841847 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:105509802G>C uc003yma.2 - 5 1073 c.978C>G c.(976-978)CAC>CAG p.H326Q LRP12_uc003ymb.2_Missense_Mutation_p.H307Q|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 326 Extracellular (Potential).|CUB 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCAAAAGCTTGTGTGGATTCT 0.373 26 42 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113237101 113237101 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:113237101C>T uc003ynu.2 - 71 11182 c.11023G>A c.(11023-11025)GCA>ACA p.A3675T CSMD3_uc003yns.2_Missense_Mutation_p.A2877T|CSMD3_uc003ynt.2_Missense_Mutation_p.A3635T|CSMD3_uc011lhx.1_Missense_Mutation_p.A3506T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3675 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCAAAAGCTGCTTGGCCATTG 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 129 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139153478 139153478 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:139153478C>A uc003yuy.2 - 17 3924 c.3753G>T c.(3751-3753)CTG>CTT p.L1251L FAM135B_uc003yux.2_Silent_p.L1152L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1251 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) ACAGGGTTCCCAGGTGAGGCC 0.532 HNSCC(54;0.14) 17 44 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139611024 139611024 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:139611024C>A uc003yvd.2 - 61 4750 c.4303G>T c.(4303-4305)GGG>TGG p.G1435W COL22A1_uc011ljo.1_Missense_Mutation_p.G715W NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1435 Pro-rich.|Gly-rich.|Collagen-like 14. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCATTCTCCCCAGGTAGTCCT 0.612 HNSCC(7;0.00092) 22 30 --- --- --- --- PASS DENND3 22898 broad.mit.edu 37 8 142161912 142161912 + Silent SNP C A A rs142459324 byFrequency TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:142161912C>A uc003yvy.2 + 7 1088 c.810C>A c.(808-810)CTC>CTA p.L270L DENND3_uc010mep.2_Silent_p.L283L NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 270 DENN. ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GCTGCCATCTCGACCACTTCG 0.552 5 123 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144998324 144998324 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:144998324C>A uc003zaf.1 - 31 6354 c.6184G>T c.(6184-6186)GAG>TAG p.E2062* PLEC_uc003zab.1_Nonsense_Mutation_p.E1925*|PLEC_uc003zac.1_Nonsense_Mutation_p.E1929*|PLEC_uc003zad.2_Nonsense_Mutation_p.E1925*|PLEC_uc003zae.1_Nonsense_Mutation_p.E1893*|PLEC_uc003zag.1_Nonsense_Mutation_p.E1903*|PLEC_uc003zah.2_Nonsense_Mutation_p.E1911*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E1952* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2062 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGGATCTCCTCCTCCACCTGC 0.701 5 5 --- --- --- --- PASS SLC39A4 55630 broad.mit.edu 37 8 145638176 145638176 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:145638176G>A uc003zcq.2 - 11 1882 c.1782C>T c.(1780-1782)ACC>ACT p.T594T SLC39A4_uc003zcm.1_Silent_p.T96T|SLC39A4_uc003zcn.2_Silent_p.T96T|SLC39A4_uc003zco.2_Silent_p.T318T|SLC39A4_uc003zcp.2_Silent_p.T569T NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), 594 Helical; Name=5; (Potential). cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) GGAACAGGCCGGTGGCCACTG 0.672 7 17 --- --- --- --- PASS IFNA6 3443 broad.mit.edu 37 9 21350809 21350809 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:21350809C>T uc011lni.1 - 1 78 c.78G>A c.(76-78)CTG>CTA p.L26L NM_021002 NP_066282 P05013 IFNA6_HUMAN interferon, alpha 6 precursor 26 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GGGTCTGAGGCAGATCACAGT 0.512 25 45 --- --- --- --- PASS LINGO2 158038 broad.mit.edu 37 9 27949203 27949203 + Silent SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:27949203A>T uc003zqu.1 - 2 1661 c.1467T>A c.(1465-1467)GCT>GCA p.A489A LINGO2_uc010mjf.1_Silent_p.A489A|LINGO2_uc003zqv.1_Silent_p.A489A NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 489 Ig-like C2-type.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TATCATTCCCAGCAGCATTGC 0.498 23 33 --- --- --- --- PASS ACO1 48 broad.mit.edu 37 9 32448965 32448965 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:32448965C>G uc003zqw.3 + 20 2597 c.2442C>G c.(2440-2442)ATC>ATG p.I814M ACO1_uc003zqx.3_Missense_Mutation_p.I814M|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 814 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TGGGTGTGATCCCACTTGAAT 0.483 18 32 --- --- --- --- PASS DCAF10 79269 broad.mit.edu 37 9 37861493 37861493 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:37861493G>A uc004aao.2 + 7 1742 c.1668G>A c.(1666-1668)CAG>CAA p.Q556Q DCAF10_uc010mlz.2_Silent_p.Q383Q|DCAF10_uc004aap.2_Silent_p.Q207Q NM_024345 NP_077321 Q5QP82 DCA10_HUMAN WD repeat domain 32 556 WD 7. CUL4 RING ubiquitin ligase complex central_nervous_system(1) 1 CTTTGTATCAGCCAAAGTTTT 0.383 4 80 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73225606 73225606 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:73225606C>A uc004aid.2 - 18 2794 c.2550G>T c.(2548-2550)CAG>CAT p.Q850H TRPM3_uc004ahu.2_Missense_Mutation_p.Q680H|TRPM3_uc004ahv.2_Missense_Mutation_p.Q652H|TRPM3_uc004ahw.2_Missense_Mutation_p.Q722H|TRPM3_uc004ahx.2_Missense_Mutation_p.Q709H|TRPM3_uc004ahy.2_Missense_Mutation_p.Q712H|TRPM3_uc004ahz.2_Missense_Mutation_p.Q699H|TRPM3_uc004aia.2_Missense_Mutation_p.Q697H|TRPM3_uc004aib.2_Missense_Mutation_p.Q687H|TRPM3_uc004aic.2_Missense_Mutation_p.Q850H NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 875 Extracellular (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GGTGCTTGCTCTGAACTTCCT 0.428 24 45 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79322116 79322116 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:79322116C>A uc010mpk.2 - 8 5198 c.5074G>T c.(5074-5076)GTC>TTC p.V1692F NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1692 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TCACCACCGACACTGTCATCA 0.463 13 39 --- --- --- --- PASS TLE4 7091 broad.mit.edu 37 9 82320816 82320816 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:82320816G>T uc004ald.2 + 10 1570 c.721G>T c.(721-723)GAG>TAG p.E241* TLE4_uc004alc.2_Nonsense_Mutation_p.E248*|TLE4_uc010mpr.2_Nonsense_Mutation_p.E127*|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Nonsense_Mutation_p.E216*|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Nonsense_Mutation_p.E187* NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CAGCGATGGTGAGAAAAGTGA 0.413 5 112 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101810117 101810117 + Missense_Mutation SNP G T T rs138040776 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:101810117G>T uc004azb.1 + 27 2935 c.2729G>T c.(2728-2730)CGA>CTA p.R910L NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 910 Triple-helical region 5 (COL5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CTTCCCGGGCGACCTGTAGGT 0.542 40 51 --- --- --- --- PASS EPB41L4B 54566 broad.mit.edu 37 9 111938886 111938886 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:111938886C>T uc004bdz.1 - 25 2873 c.2578G>A c.(2578-2580)GTC>ATC p.V860I NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 860 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 ACTGTGGAGACGGTCTCTGTC 0.562 9 26 --- --- --- --- PASS ZNF883 169834 broad.mit.edu 37 9 115760433 115760433 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:115760433A>G uc011lwy.1 - 5 1346 c.107T>C c.(106-108)ATT>ACT p.I36T NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTTTCTCCAATATGTGTTTT 0.383 22 31 --- --- --- --- PASS AKNA 80709 broad.mit.edu 37 9 117120298 117120298 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:117120298G>A uc004biq.3 - 11 2777 c.2642C>T c.(2641-2643)GCA>GTA p.A881V AKNA_uc004bin.3_Missense_Mutation_p.A128V|AKNA_uc004bio.3_Missense_Mutation_p.A341V|AKNA_uc004bip.3_Missense_Mutation_p.A800V|AKNA_uc004bir.3_Missense_Mutation_p.A881V|AKNA_uc004bis.3_Missense_Mutation_p.A881V|AKNA_uc010mve.2_Missense_Mutation_p.A762V NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 881 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 TTGGTGGGATGCTGCGGACTT 0.657 11 22 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137714873 137714873 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:137714873C>A uc004cfe.2 + 60 5020 c.4638C>A c.(4636-4638)GGC>GGA p.G1546G uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1546 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) GTGCTAAGGGCTCCTCGGTAA 0.632 6 18 --- --- --- --- PASS ZMYND11 10771 broad.mit.edu 37 10 293350 293350 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:293350C>G uc010pzt.1 + 12 1599 c.1171C>G c.(1171-1173)CAA>GAA p.Q391E ZMYND11_uc001ifk.2_Missense_Mutation_p.Q390E|ZMYND11_uc010pzu.1_Missense_Mutation_p.Q391E|ZMYND11_uc010pzv.1_Missense_Mutation_p.Q336E|ZMYND11_uc010pzw.1_Missense_Mutation_p.Q306E|ZMYND11_uc001ifm.2_Missense_Mutation_p.Q337E|ZMYND11_uc010pzx.1_Missense_Mutation_p.Q391E|ZMYND11_uc001ifn.2_Missense_Mutation_p.Q337E|ZMYND11_uc009xhg.2_Missense_Mutation_p.Q374E|ZMYND11_uc009xhh.2_Missense_Mutation_p.Q265E|ZMYND11_uc010pzy.1_Missense_Mutation_p.Q243E NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 351 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AAAGGTCACTCAAGAACCAAG 0.428 15 39 --- --- --- --- PASS GDI2 2665 broad.mit.edu 37 10 5827861 5827861 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:5827861C>T uc001iil.3 - 5 832 c.541G>A c.(541-543)GTT>ATT p.V181I GDI2_uc001iim.3_Missense_Mutation_p.V136I|GDI2_uc009xid.2_Missense_Mutation_p.V185I NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 181 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 AAATCTATAACGTCTTGACCC 0.333 14 57 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16949629 16949629 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:16949629C>T uc001ioo.2 - 49 7635 c.7583G>A c.(7582-7584)AGT>AAT p.S2528N CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2528 CUB 18. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATTCACACTACTACACAGTTT 0.408 28 46 --- --- --- --- PASS ACBD5 91452 broad.mit.edu 37 10 27497281 27497281 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:27497281C>A uc010qdp.1 - 10 1489 c.1298G>T c.(1297-1299)CGA>CTA p.R433L ACBD5_uc010qdm.1_Missense_Mutation_p.R431L|ACBD5_uc010qdn.1_Missense_Mutation_p.R324L|ACBD5_uc010qdo.1_Missense_Mutation_p.R256L|ACBD5_uc001ito.2_Missense_Mutation_p.R398L|ACBD5_uc001itp.2_Missense_Mutation_p.R324L|ACBD5_uc001itq.2_Missense_Mutation_p.R324L|ACBD5_uc001itr.1_Missense_Mutation_p.R222L NM_145698 NP_663736 Q5T8D3 ACBD5_HUMAN acyl-Coenzyme A binding domain containing 5 442 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding 0 GAGGCTGCCTCGGGACCCTCT 0.572 4 60 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30315269 30315269 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:30315269G>A uc001iux.2 - 2 3867 c.3808C>T c.(3808-3810)CGG>TGG p.R1270W KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1132W|KIAA1462_uc009xle.1_Missense_Mutation_p.R1270W NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1270 ovary(4) 4 ACTCTCATCCGTGACACTGAG 0.577 9 38 --- --- --- --- PASS PARD3 56288 broad.mit.edu 37 10 34408612 34408612 + Missense_Mutation SNP C G G rs12359558 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:34408612C>G uc010qej.1 - 24 3606 c.3606G>C c.(3604-3606)CAG>CAC p.Q1202H PARD3_uc010qek.1_Missense_Mutation_p.Q1199H|PARD3_uc010qel.1_Missense_Mutation_p.Q1165H|PARD3_uc010qem.1_Missense_Mutation_p.Q1186H|PARD3_uc010qen.1_Missense_Mutation_p.Q1156H|PARD3_uc010qeo.1_Missense_Mutation_p.Q1119H|PARD3_uc010qep.1_Missense_Mutation_p.Q1112H|PARD3_uc010qeq.1_Missense_Mutation_p.Q1090H NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1202 Potential. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) GCCGCTGCATCTGCACCTCCA 0.637 4 5 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37440993 37440993 + Missense_Mutation SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:37440993A>T uc001iza.1 + 12 1582 c.1483A>T c.(1483-1485)ATG>TTG p.M495L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 551 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TATAGATCCGATGTTCCCACC 0.294 11 36 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37442554 37442554 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:37442554C>G uc001iza.1 + 13 1693 c.1594C>G c.(1594-1596)CAA>GAA p.Q532E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 588 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GGCTACACATCAAAAAGAAAT 0.313 21 163 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37478449 37478449 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:37478449C>G uc001iza.1 + 25 2407 c.2308C>G c.(2308-2310)CAA>GAA p.Q770E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 826 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GGCTACGCATCAAAAAGAAAT 0.299 7 13 --- --- --- --- PASS CDK1 983 broad.mit.edu 37 10 62544477 62544477 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:62544477G>C uc001jld.2 + 3 186 c.52G>C c.(52-54)GTG>CTG p.V18L CDK1_uc010qii.1_Missense_Mutation_p.V18L|CDK1_uc001jle.2_RNA|CDK1_uc001jlf.2_Missense_Mutation_p.V18L|CDK1_uc001jlg.2_Missense_Mutation_p.V18L NM_001786 NP_001777 P06493 CDK1_HUMAN cell division cycle 2 isoform 1 18 ATP (By similarity).|Protein kinase. activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity ovary(1) 1 CTATGGAGTTGTGTATAAGGG 0.338 26 67 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68280473 68280473 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:68280473G>T uc009xpn.1 - 11 1556 c.1433C>A c.(1432-1434)ACC>AAC p.T478N CTNNA3_uc001jmw.2_Missense_Mutation_p.T478N|CTNNA3_uc001jmx.3_Missense_Mutation_p.T478N NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 478 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CATTTCCATGGTGTTTTTGAC 0.338 19 67 --- --- --- --- PASS HERC4 26091 broad.mit.edu 37 10 69700823 69700823 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:69700823T>A uc001jng.3 - 21 2712 c.2401A>T c.(2401-2403)ATC>TTC p.I801F HERC4_uc009xpq.2_Missense_Mutation_p.I334F|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.I793F|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.I537F NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 801 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 AAGCCACAGATAACACCAATC 0.294 27 78 --- --- --- --- PASS STOX1 219736 broad.mit.edu 37 10 70644923 70644923 + Silent SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:70644923T>A uc001jos.2 + 3 1458 c.1371T>A c.(1369-1371)GCT>GCA p.A457A STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.A347A NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 457 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 AGCTCCCTGCTACACAGCCCA 0.473 45 100 --- --- --- --- PASS NDST2 8509 broad.mit.edu 37 10 75562762 75562762 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:75562762G>C uc001jvk.2 - 13 3195 c.2391C>G c.(2389-2391)ATC>ATG p.I797M NDST2_uc010qks.1_Missense_Mutation_p.I423M|NDST2_uc010qkt.1_Missense_Mutation_p.I674M|NDST2_uc001jvl.1_Missense_Mutation_p.I204M|NDST2_uc009xro.2_Missense_Mutation_p.I423M|NDST2_uc010qku.1_Missense_Mutation_p.I672M NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 797 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) GAAAGGGTGTGATACCCAGGA 0.532 49 116 --- --- --- --- PASS NRG3 10718 broad.mit.edu 37 10 84711279 84711279 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:84711279G>A uc001kco.2 + 5 1136 c.1109G>A c.(1108-1110)GGA>GAA p.G370E NRG3_uc010qlz.1_Missense_Mutation_p.G369E|NRG3_uc001kcp.2_Missense_Mutation_p.G149E|NRG3_uc001kcq.2_Missense_Mutation_p.G20E|NRG3_uc001kcr.2_Missense_Mutation_p.G20E NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 370 Helical; Note=Internal signal sequence; (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) ATCATCTTTGGAATTGTCATC 0.378 30 54 --- --- --- --- PASS SORBS1 10580 broad.mit.edu 37 10 97174445 97174445 + Missense_Mutation SNP T G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:97174445T>G uc001kkp.2 - 7 661 c.616A>C c.(616-618)ACT>CCT p.T206P SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.T206P|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.T174P|SORBS1_uc001kkw.2_Missense_Mutation_p.T206P|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.T404P|SORBS1_uc001kkx.1_Missense_Mutation_p.T174P NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 206 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TCATCTAGAGTCGGGAAGGTC 0.637 6 30 --- --- --- --- PASS C10orf76 79591 broad.mit.edu 37 10 103792914 103792914 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:103792914G>A uc009xwy.1 - 4 277 c.175C>T c.(175-177)CTA>TTA p.L59L C10orf76_uc001kui.2_Silent_p.L59L NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 59 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TTGCCTTCTAGGTACTCTAAA 0.413 18 57 --- --- --- --- PASS SMC3 9126 broad.mit.edu 37 10 112359487 112359487 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:112359487G>T uc001kze.2 + 21 2470 c.2344G>T c.(2344-2346)GGA>TGA p.G782* NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 782 Potential. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AGCAGAACTGGGAACTGATTT 0.418 5 59 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117226718 117226718 + Nonsense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:117226718C>G uc001lcg.2 + 23 3838 c.3452C>G c.(3451-3453)TCA>TGA p.S1151* ATRNL1_uc010qsm.1_Nonsense_Mutation_p.S280*|ATRNL1_uc010qsn.1_Intron NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1151 Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ATTAATGCATCAAACAACTTT 0.294 6 25 --- --- --- --- PASS FGFR2 2263 broad.mit.edu 37 10 123263411 123263411 + Silent SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:123263411C>G uc010qtk.1 - 11 1979 c.1332G>C c.(1330-1332)CTG>CTC p.L444L FGFR2_uc010qtg.1_Silent_p.L332L|FGFR2_uc010qth.1_Silent_p.L329L|FGFR2_uc010qti.1_Silent_p.L355L|FGFR2_uc010qtj.1_Silent_p.L445L|FGFR2_uc010qtl.1_Silent_p.L328L|FGFR2_uc010qtm.1_Silent_p.L327L|FGFR2_uc001lfl.3_Silent_p.L445L|FGFR2_uc001lfm.2_Silent_p.L356L|FGFR2_uc001lfg.3_Silent_p.L52L NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 444 Cytoplasmic (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TTATCCTCACCAGCGGGGTGT 0.532 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 13 23 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124390741 124390741 + Missense_Mutation SNP G T T rs149958745 by1000genomes TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:124390741G>T uc001lgk.1 + 46 6009 c.5903G>T c.(5902-5904)CGA>CTA p.R1968L DMBT1_uc001lgl.1_Missense_Mutation_p.R1958L|DMBT1_uc001lgm.1_Missense_Mutation_p.R1340L|DMBT1_uc009xzz.1_Missense_Mutation_p.R1968L|DMBT1_uc010qtx.1_Missense_Mutation_p.R688L|DMBT1_uc009yab.1_Missense_Mutation_p.R671L|DMBT1_uc009yac.1_Missense_Mutation_p.R262L NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1968 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGCCGGAACCGAGGCTGGTTC 0.547 5 153 --- --- --- --- PASS ZRANB1 54764 broad.mit.edu 37 10 126631403 126631403 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:126631403G>T uc001lic.2 + 1 712 c.341G>T c.(340-342)AGG>ATG p.R114M ZRANB1_uc010qug.1_Missense_Mutation_p.R140M NM_017580 NP_060050 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 114 positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|kidney(1) 2 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) CGTAGGACCAGGAGTCCTACA 0.433 7 82 --- --- --- --- PASS LRRC27 80313 broad.mit.edu 37 10 134175004 134175004 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr10:134175004G>T uc010quw.1 + 9 1409 c.1214G>T c.(1213-1215)AGG>ATG p.R405M LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.R405M|LRRC27_uc001llj.2_Missense_Mutation_p.R343M|LRRC27_uc001llk.3_Missense_Mutation_p.R278M NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a 405 ovary(1) 1 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) ATAGATAACAGGAAAGTACCA 0.423 7 173 --- --- --- --- PASS OR51M1 390059 broad.mit.edu 37 11 5410783 5410783 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:5410783C>T uc010qzc.1 + 1 155 c.155C>T c.(154-156)TCA>TTA p.S52L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 52 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTGCCATCTCAGGCAATTGT 0.453 27 63 --- --- --- --- PASS OR51I1 390063 broad.mit.edu 37 11 5462289 5462289 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:5462289G>T uc010qze.1 - 1 456 c.456C>A c.(454-456)ACC>ACA p.T152T HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAAACTCTTGGTAAGGATGC 0.473 6 62 --- --- --- --- PASS OR52N1 79473 broad.mit.edu 37 11 5809636 5809636 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:5809636G>A uc010qzo.1 - 1 411 c.411C>T c.(409-411)ATC>ATT p.I137I TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AATTAGTGAGGATGGTGGCAT 0.517 19 54 --- --- --- --- PASS OR52W1 120787 broad.mit.edu 37 11 6221231 6221231 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:6221231G>T uc010qzz.1 + 1 778 c.778G>T c.(778-780)GGT>TGT p.G260C NM_001005178 NP_001005178 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, 260 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTACATACCTGGTCTCTTCTC 0.542 8 353 --- --- --- --- PASS OR10A4 283297 broad.mit.edu 37 11 6898702 6898702 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:6898702T>A uc010rat.1 + 1 824 c.824T>A c.(823-825)CTG>CAG p.L275Q NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AAGAAGCTGCTGTCACTCTCT 0.512 41 121 --- --- --- --- PASS SWAP70 23075 broad.mit.edu 37 11 9715738 9715738 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:9715738C>A uc001mhw.2 + 2 244 c.145C>A c.(145-147)CCA>ACA p.P49T SWAP70_uc001mhv.2_Missense_Mutation_p.P49T|SWAP70_uc001mhx.2_Missense_Mutation_p.P49T NM_015055 NP_055870 Q9UH65 SWP70_HUMAN SWAP-70 protein 49 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding ovary(2)|central_nervous_system(1) 3 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) TCCTCATGACCCAGTTGCCCT 0.473 5 72 --- --- --- --- PASS SWAP70 23075 broad.mit.edu 37 11 9759834 9759834 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:9759834C>A uc001mhw.2 + 8 1254 c.1155C>A c.(1153-1155)GCC>GCA p.A385A SWAP70_uc001mhv.2_Silent_p.A385A|SWAP70_uc001mhx.2_Silent_p.A327A NM_015055 NP_055870 Q9UH65 SWP70_HUMAN SWAP-70 protein 385 Potential. A -> S (in Ref. 7). cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding ovary(2)|central_nervous_system(1) 3 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) AACTTCAGGCCAGGTTCAGCA 0.522 5 39 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17430031 17430031 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:17430031C>A uc001mnc.2 - 23 2854 c.2728G>T c.(2728-2730)GAG>TAG p.E910* NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 910 ABC transporter 1.|Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGTACCCTCCCTCTGGATG 0.547 6 86 --- --- --- --- PASS USH1C 10083 broad.mit.edu 37 11 17554867 17554867 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:17554867C>A uc001mnf.2 - 2 148 c.39G>T c.(37-39)GTG>GTT p.V13V USH1C_uc001mne.2_Silent_p.V13V|USH1C_uc009yhb.2_Silent_p.V13V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_5'UTR NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 13 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 TCAGAAAATCCACCTGGAAAA 0.532 17 58 --- --- --- --- PASS E2F8 79733 broad.mit.edu 37 11 19246901 19246901 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:19246901G>T uc001mpm.2 - 12 2810 c.2288C>A c.(2287-2289)CCA>CAA p.P763Q E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.P763Q NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 763 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 CTCTATTCTTGGAGACACAGG 0.532 6 130 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30925135 30925135 + RNA SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:30925135C>T uc001mss.1 - 10 c.1507G>A uc009yjk.1_Silent_p.L916L|uc009yjj.1_RNA Homo sapiens mRNA for KIAA1493 protein, partial cds. CCCATAAAACCAAATCACGCA 0.423 11 24 --- --- --- --- PASS FNBP4 23360 broad.mit.edu 37 11 47767661 47767661 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:47767661C>G uc009ylv.2 - 7 1345 c.1192G>C c.(1192-1194)GAG>CAG p.E398Q FNBP4_uc001ngj.2_Missense_Mutation_p.E305Q|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 398 ovary(1) 1 TCCTCTTCCTCCTCACTTTCT 0.388 41 114 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55606318 55606318 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:55606318T>A uc010rio.1 + 1 91 c.91T>A c.(91-93)TTT>ATT p.F31I NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TCCCCTCTTCTTTGTATTTCT 0.413 18 65 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55606815 55606815 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:55606815C>T uc010rio.1 + 1 588 c.588C>T c.(586-588)CTC>CTT p.L196L NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) ACTCTTATCTCAGCCAGTTGC 0.383 11 67 --- --- --- --- PASS OR5M10 390167 broad.mit.edu 37 11 56344480 56344480 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:56344480T>A uc001niz.1 - 1 718 c.718A>T c.(718-720)ACG>TCG p.T240S NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAAGCACACGTAGAAAAGGCT 0.448 36 102 --- --- --- --- PASS LRRC55 219527 broad.mit.edu 37 11 56949826 56949826 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:56949826C>A uc001njl.1 + 1 606 c.459C>A c.(457-459)CTC>CTA p.L153L NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 123 LRR 2. integral to membrane 0 GCCTCTTCCTCCATGCCAAGC 0.577 4 20 --- --- --- --- PASS OR1S1 219959 broad.mit.edu 37 11 57982933 57982933 + Silent SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:57982933G>C uc010rkc.1 + 1 717 c.717G>C c.(715-717)CTG>CTC p.L239L NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 239 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) GAGCTGTCCTGAGAGTATCTT 0.438 10 49 --- --- --- --- PASS OR5B17 219965 broad.mit.edu 37 11 58126157 58126157 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:58126157T>C uc010rke.1 - 1 386 c.386A>G c.(385-387)CAT>CGT p.H129R NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGTGGTATAATGTAGGGGGTT 0.448 17 50 --- --- --- --- PASS VWCE 220001 broad.mit.edu 37 11 61026151 61026151 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:61026151A>G uc001nra.2 - 20 3143 c.2864T>C c.(2863-2865)ATG>ACG p.M955T VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 955 extracellular region calcium ion binding ovary(1) 1 ACCTCCTTACATGGTGGACTC 0.647 7 27 --- --- --- --- PASS ROM1 6094 broad.mit.edu 37 11 62382190 62382190 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:62382190C>A uc001ntv.2 + 3 1476 c.935C>A c.(934-936)CCC>CAC p.P312H EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank NM_000327 NP_000318 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 312 Cytoplasmic (Potential). cell adhesion|visual perception integral to plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TATCTCTTTCCCAGTGGGCTG 0.607 5 60 --- --- --- --- PASS METTL12 751071 broad.mit.edu 37 11 62433368 62433368 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:62433368G>T uc001nug.1 + 2 276 c.17G>T c.(16-18)CGA>CTA p.R6L C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_5'UTR|METTL12_uc010rmc.1_RNA NM_001043229 NP_001036694 A8MUP2 MTL12_HUMAN methyltransferase like 12 precursor 6 mitochondrion methyltransferase activity 0 GCGCTGCGTCGAATGCTCCAC 0.642 6 30 --- --- --- --- PASS NUDT22 84304 broad.mit.edu 37 11 63997406 63997406 + Nonsense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:63997406C>T uc001nyp.3 + 6 1036 c.856C>T c.(856-858)CAG>TAG p.Q286* NUDT22_uc009ype.2_Nonsense_Mutation_p.Q286*|NUDT22_uc001nyq.3_Nonsense_Mutation_p.Q253*|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank NM_032344 NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety 286 hydrolase activity 0 CAACCGGGTTCAGGGAAGTCC 0.567 5 30 --- --- --- --- PASS EHBP1L1 254102 broad.mit.edu 37 11 65357998 65357998 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:65357998G>C uc001oeo.3 + 16 4483 c.4218G>C c.(4216-4218)CAG>CAC p.Q1406H NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 1406 Potential. central_nervous_system(1) 1 TGCTGATCCAGGAGTGGTTCA 0.647 12 27 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70200458 70200458 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:70200458G>A uc001opo.2 + 17 2413 c.2215G>A c.(2215-2217)GAA>AAA p.E739K PPFIA1_uc001opn.1_Missense_Mutation_p.E739K|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 739 cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CATAAAGTGTGAAACCTCCCC 0.532 22 45 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70507712 70507712 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:70507712C>A uc001oqc.2 - 13 2003 c.1925G>T c.(1924-1926)CGA>CTA p.R642L SHANK2_uc010rqn.1_Missense_Mutation_p.R54L|SHANK2_uc001opz.2_Missense_Mutation_p.R54L|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.R54L NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 263 PDZ. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTTGGCCCCTCGAAGCACGAA 0.383 5 113 --- --- --- --- PASS PICALM 8301 broad.mit.edu 37 11 85701351 85701351 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:85701351G>A uc001pbm.2 - 13 1636 c.1350C>T c.(1348-1350)TCC>TCT p.S450S PICALM_uc001pbl.2_Intron|PICALM_uc001pbn.2_Silent_p.S443S|PICALM_uc010rtl.1_Intron|PICALM_uc010rtk.1_Intron|PICALM_uc001pbo.1_Silent_p.S82S NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 450 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) CTGAAGAAATGGAAAGGTGAA 0.363 T MLLT10|MLL TALL|AML| 23 59 --- --- --- --- PASS ZC3H12C 85463 broad.mit.edu 37 11 110036441 110036441 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:110036441G>T uc009yxw.2 + 6 2682 c.2631G>T c.(2629-2631)GAG>GAT p.E877D ZC3H12C_uc010rwc.1_Missense_Mutation_p.E878D|ZC3H12C_uc010rwd.1_Missense_Mutation_p.E878D|ZC3H12C_uc001pkr.3_Missense_Mutation_p.E846D NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 877 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TTTTAGTGGAGAAATCCCAGC 0.453 5 8 --- --- --- --- PASS USP28 57646 broad.mit.edu 37 11 113704153 113704153 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:113704153C>A uc001poh.2 - 7 781 c.748G>T c.(748-750)GAG>TAG p.E250* USP28_uc010rwy.1_Nonsense_Mutation_p.E125*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.E250*|USP28_uc010rwz.1_Nonsense_Mutation_p.E250* NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 250 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TGCTGTTCCTCAGATGATCGG 0.423 6 107 --- --- --- --- PASS CEP164 22897 broad.mit.edu 37 11 117242073 117242073 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:117242073C>A uc001prc.2 + 9 1190 c.1043C>A c.(1042-1044)CCA>CAA p.P348Q CEP164_uc001prb.2_Missense_Mutation_p.P348Q|CEP164_uc010rxk.1_Missense_Mutation_p.P322Q|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 348 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AAGGAAGCACCAGAGGACACA 0.537 5 109 --- --- --- --- PASS VSIG2 23584 broad.mit.edu 37 11 124617490 124617490 + Nonsense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:124617490T>A uc001qas.2 - 7 1001 c.925A>T c.(925-927)AGA>TGA p.R309* NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 309 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|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;0.0215) GACGAGGGTCTTTCCAGGAAC 0.557 13 42 --- --- --- --- PASS JAM3 83700 broad.mit.edu 37 11 134014177 134014177 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr11:134014177C>T uc001qhb.1 + 4 457 c.433C>T c.(433-435)CTG>TTG p.L145L JAM3_uc009zcz.1_Intron NM_032801 NP_116190 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 precursor 100 Extracellular (Potential).|Ig-like V-type. angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) GAAGACATCCCTGAAGATCTG 0.458 19 50 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6061676 6061676 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:6061676T>C uc001qnn.1 - 49 8246 c.7996A>G c.(7996-7998)ACG>GCG p.T2666A VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2666 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) TCCTGGAGCGTCTCATCACGC 0.502 14 21 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7635983 7635983 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:7635983T>C uc001qsz.3 - 12 3196 c.3068A>G c.(3067-3069)GAC>GGC p.D1023G CD163_uc001qta.3_Missense_Mutation_p.D1023G|CD163_uc009zfw.2_Missense_Mutation_p.D1056G NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1023 SRCR 9.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CACTGCAGCGTCTTCCTTGTG 0.512 8 24 --- --- --- --- PASS WBP11 51729 broad.mit.edu 37 12 14947471 14947471 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:14947471C>A uc001rci.2 - 7 882 c.721G>T c.(721-723)GCC>TCC p.A241S NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 241 mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 CACTTCTCACCAAGTTCAGGA 0.413 8 280 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15704492 15704492 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:15704492G>A uc001rcv.1 + 15 2619 c.2445G>A c.(2443-2445)GAG>GAA p.E815E PTPRO_uc001rcw.1_Silent_p.E815E|PTPRO_uc001rcx.1_Silent_p.E4E|PTPRO_uc001rcy.1_Silent_p.E4E|PTPRO_uc001rcz.1_Silent_p.E4E|PTPRO_uc001rda.1_Silent_p.E4E NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 815 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) TAGTTACAGAGATGAATCCCA 0.398 35 85 --- --- --- --- PASS STRAP 11171 broad.mit.edu 37 12 16052959 16052959 + Silent SNP G C C rs140559082 byFrequency TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:16052959G>C uc001rdc.3 + 8 1251 c.897G>C c.(895-897)ACG>ACC p.T299T STRAP_uc010shw.1_Silent_p.T312T|STRAP_uc001rdd.3_Silent_p.T205T NM_007178 NP_009109 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated 299 WD 7. mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding skin(1) 1 Hepatocellular(102;0.121) TAGGAAAAACGTATGGCCTTT 0.333 15 41 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26572033 26572033 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:26572033G>A uc001rhg.2 - 50 7476 c.7059C>T c.(7057-7059)GTC>GTT p.V2353V ITPR2_uc009zjg.1_Silent_p.V504V NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2353 Helical; (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TGCAAACCAGGACATACGCCA 0.463 22 49 --- --- --- --- PASS C12orf71 728858 broad.mit.edu 37 12 27235364 27235364 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:27235364T>C uc001rhq.2 - 1 92 c.53A>G c.(52-54)AAT>AGT p.N18S NM_001080406 NP_001073875 A8MTZ7 CL071_HUMAN hypothetical protein LOC728858 18 0 CAGGTTGGAATTGGATTTGGA 0.493 20 21 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40671774 40671774 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:40671774T>C uc001rmg.3 + 17 2147 c.2026T>C c.(2026-2028)TTC>CTC p.F676L LRRK2_uc001rmh.1_Missense_Mutation_p.F298L NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 676 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) CTTAGTAATATTCCATCAAAT 0.328 6 41 --- --- --- --- PASS SLC38A4 55089 broad.mit.edu 37 12 47163091 47163091 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:47163091T>C uc001rpi.2 - 15 1819 c.1420A>G c.(1420-1422)ATA>GTA p.I474V SLC38A4_uc001rpj.2_Missense_Mutation_p.I474V NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 474 Helical; (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) ATGTATTTTATAGTTGGCACA 0.423 31 69 --- --- --- --- PASS FIGNL2 401720 broad.mit.edu 37 12 52216039 52216039 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:52216039G>A uc001rzc.2 - 1 170 c.159C>T c.(157-159)GCC>GCT p.A53A NM_001013690 NP_001013712 A6NMB9 FIGL2_HUMAN fidgetin-like 2 53 ATP binding|nucleoside-triphosphatase activity 0 BRCA - Breast invasive adenocarcinoma(357;0.135) AGGCAGTGAGGGCTGAGATGT 0.642 3 9 --- --- --- --- PASS SMARCC2 6601 broad.mit.edu 37 12 56575865 56575865 + Splice_Site SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:56575865T>A uc001skb.2 - 8 739 c.633_splice c.e8-1 p.S211_splice SMARCC2_uc001skd.2_Splice_Site_p.S211_splice|SMARCC2_uc001ska.2_Splice_Site_p.S211_splice|SMARCC2_uc001skc.2_Splice_Site_p.S211_splice|SMARCC2_uc010sqf.1_Splice_Site_p.S100_splice NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) GTGTCGTAACTGCCATGGGAA 0.438 12 38 --- --- --- --- PASS OS9 10956 broad.mit.edu 37 12 58089784 58089784 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:58089784A>G uc001spj.2 + 4 502 c.443A>G c.(442-444)TAC>TGC p.Y148C OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.Y148C|OS9_uc001spl.2_Missense_Mutation_p.Y148C|OS9_uc001spm.2_Missense_Mutation_p.Y148C|OS9_uc001spn.2_Missense_Mutation_p.Y148C|OS9_uc010sry.1_Missense_Mutation_p.Y148C|OS9_uc010srz.1_Missense_Mutation_p.Y89C NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 148 PRKCSH. ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CTCGGCTACTACCAATCAGCC 0.522 15 58 --- --- --- --- PASS FAM119B 25895 broad.mit.edu 37 12 58174329 58174329 + Missense_Mutation SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:58174329A>T uc001sqg.2 + 3 706 c.581A>T c.(580-582)CAC>CTC p.H194L FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank NM_015433 NP_056248 Q96AZ1 MT21B_HUMAN hypothetical protein LOC25895 isoform a 194 integral to membrane|intracellular methyltransferase activity 0 all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) TTCTTTCAGCACCTCCTGCCC 0.562 7 20 --- --- --- --- PASS AVIL 10677 broad.mit.edu 37 12 58200197 58200197 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:58200197G>T uc001sqj.1 - 13 1646 c.1617C>A c.(1615-1617)TCC>TCA p.S539S AVIL_uc009zqe.1_Silent_p.S532S|AVIL_uc001sqk.1_Silent_p.S117S|AVIL_uc001sql.3_Silent_p.S516S NM_006576 NP_006567 O75366 AVIL_HUMAN advillin 539 Gelsolin-like 5.|Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding central_nervous_system(1) 1 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) AGACATCATTGGAGTTTAGGG 0.542 5 63 --- --- --- --- PASS RASSF9 9182 broad.mit.edu 37 12 86199048 86199048 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:86199048A>G uc001taf.1 - 2 1079 c.740T>C c.(739-741)CTA>CCA p.L247P NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 247 Potential. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 CTGCAAGTCTAGATTTTGCTC 0.398 31 76 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97073530 97073530 + Missense_Mutation SNP G T T rs138249141 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:97073530G>T uc001tet.1 + 7 1069 c.991G>T c.(991-993)GAT>TAT p.D331Y NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 331 skin(6)|ovary(1) 7 ACAGACACAAGGTAAAATGCA 0.433 6 111 --- --- --- --- PASS NEDD1 121441 broad.mit.edu 37 12 97311443 97311443 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:97311443G>T uc001teu.3 + 5 615 c.276G>T c.(274-276)TTG>TTT p.L92F NEDD1_uc001tev.3_Missense_Mutation_p.L92F|NEDD1_uc010svc.1_Missense_Mutation_p.L3F|NEDD1_uc001tew.2_Missense_Mutation_p.L99F|NEDD1_uc001tex.2_Missense_Mutation_p.L3F NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 92 WD 3. cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 CTATGTATTTGGTAAGCGGAG 0.289 6 135 --- --- --- --- PASS NFYB 4801 broad.mit.edu 37 12 104515090 104515090 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:104515090C>A uc001tkl.1 - 6 640 c.439G>T c.(439-441)GGA>TGA p.G147* NFYB_uc001tkk.1_Nonsense_Mutation_p.G145* NM_006166 NP_006157 P25208 NFYB_HUMAN nuclear transcription factor Y, beta 147 C domain. CCAAT-binding factor complex repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 CCCTTTTCTCCTTTCATAGCC 0.368 7 233 --- --- --- --- PASS RBM19 9904 broad.mit.edu 37 12 114395692 114395692 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:114395692C>A uc009zwi.2 - 6 879 c.735G>T c.(733-735)GAG>GAT p.E245D RBM19_uc001tvn.3_Missense_Mutation_p.E245D|RBM19_uc001tvm.2_Missense_Mutation_p.E245D NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 245 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) CGGAGGAATCCTCTTCCTCGG 0.577 30 86 --- --- --- --- PASS KDM2B 84678 broad.mit.edu 37 12 121880003 121880003 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:121880003C>G uc001uat.2 - 19 3345 c.3241G>C c.(3241-3243)GAC>CAC p.D1081H KDM2B_uc001uaq.2_Missense_Mutation_p.D521H|KDM2B_uc010szy.1_Missense_Mutation_p.D521H|KDM2B_uc001uar.2_Missense_Mutation_p.D672H|KDM2B_uc001uas.2_Missense_Mutation_p.D1012H|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.D329H|KDM2B_uc010szx.1_Missense_Mutation_p.D329H|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 1081 F-box. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 ACACACAGGTCTTGGTGGCTG 0.652 3 18 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124335508 124335508 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:124335508G>A uc001uft.3 + 34 5847 c.5822G>A c.(5821-5823)CGC>CAC p.R1941H NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1941 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TACGCAGGCCGCACGGAGCTG 0.592 14 21 --- --- --- --- PASS AACS 65985 broad.mit.edu 37 12 125609519 125609519 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:125609519G>T uc001uhc.2 + 12 1464 c.1258G>T c.(1258-1260)GAG>TAG p.E420* AACS_uc001uhd.2_Nonsense_Mutation_p.E420*|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_Nonsense_Mutation_p.E18* NM_023928 NP_076417 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 420 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding ovary(1)|liver(1)|central_nervous_system(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) CCAGAGCTACGAGTATGTCTA 0.582 5 70 --- --- --- --- PASS GALNT9 50614 broad.mit.edu 37 12 132688051 132688051 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr12:132688051G>A uc001ukc.3 - 7 1378 c.1262C>T c.(1261-1263)TCG>TTG p.S421L GALNT9_uc009zyr.2_Missense_Mutation_p.S195L|GALNT9_uc001ukb.2_Missense_Mutation_p.S278L|GALNT9_uc001uka.2_Missense_Mutation_p.S55L NM_001122636 NP_001116108 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 421 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) GGGACTCACCGACATGGGGAT 0.682 8 18 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 28880836 28880836 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr13:28880836G>T uc001usb.3 - 29 4079 c.3794C>A c.(3793-3795)CCC>CAC p.P1265H FLT1_uc010aap.2_Missense_Mutation_p.P270H|FLT1_uc010aaq.2_Missense_Mutation_p.P390H|FLT1_uc001usa.3_Missense_Mutation_p.P483H NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1265 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CGAGGCCTTGGGTTTGCTGTC 0.527 18 17 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29599505 29599505 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr13:29599505G>T uc001usl.3 + 1 758 c.700G>T c.(700-702)GCT>TCT p.A234S NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 224 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GCCAGACCACGCTGTCCCGGC 0.592 10 21 --- --- --- --- PASS DACH1 1602 broad.mit.edu 37 13 72204798 72204798 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr13:72204798G>A uc010thn.1 - 4 1439 c.1016C>T c.(1015-1017)GCT>GTT p.A339V DACH1_uc010tho.1_Missense_Mutation_p.A339V|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 339 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CATTGCTTcagcaatagctgc 0.254 21 26 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249223 20249223 + Missense_Mutation SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:20249223A>T uc010tku.1 + 1 742 c.742A>T c.(742-744)ATT>TTT p.I248F NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 248 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCACATTACCATTGTGGTGCT 0.438 30 195 --- --- --- --- PASS OR11H6 122748 broad.mit.edu 37 14 20692525 20692525 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:20692525C>T uc010tlc.1 + 1 657 c.657C>T c.(655-657)ACC>ACT p.T219T NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 219 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TCTGTTACACCTTCAACTCGA 0.507 8 25 --- --- --- --- PASS SLC7A8 23428 broad.mit.edu 37 14 23607195 23607195 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:23607195G>A uc001wiz.2 - 7 1677 c.951C>T c.(949-951)ATC>ATT p.I317I SLC7A8_uc001wix.2_Silent_p.I114I|SLC7A8_uc010tnk.1_Silent_p.I93I|SLC7A8_uc010tnl.1_Silent_p.I212I|SLC7A8_uc001wiy.2_Intron|SLC7A8_uc010akj.2_Intron NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 317 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) AAATGGGCATGATCCAGGCCA 0.582 36 74 --- --- --- --- PASS CLEC14A 161198 broad.mit.edu 37 14 38724318 38724318 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:38724318T>C uc001wum.1 - 1 1257 c.910A>G c.(910-912)AGG>GGG p.R304G NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 304 Extracellular (Potential). integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GGCGGGCGCCTGGTGGGCACC 0.657 24 25 --- --- --- --- PASS PNN 5411 broad.mit.edu 37 14 39650180 39650180 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:39650180A>G uc001wuw.3 + 9 1364 c.1267A>G c.(1267-1269)AAA>GAA p.K423E NM_002687 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 423 Glu-rich. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity ovary(1) 1 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) TGAAGCTAGCAAAGAATTGGA 0.378 33 74 --- --- --- --- PASS FANCM 57697 broad.mit.edu 37 14 45605601 45605601 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:45605601G>T uc001wwd.3 + 1 466 c.367G>T c.(367-369)GTG>TTG p.V123L FANCM_uc001wwc.2_Missense_Mutation_p.V123L|FANCM_uc010anf.2_Missense_Mutation_p.V123L|FKBP3_uc010tqf.1_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 123 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TATTGCCGCCGTGGTCATGTA 0.552 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 18 41 --- --- --- --- PASS PTGDR 5729 broad.mit.edu 37 14 52735209 52735209 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:52735209A>G uc001wzq.2 + 1 779 c.677A>G c.(676-678)TAT>TGT p.Y226C NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 226 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding p.Y226H(1) ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CGCAACCTCTATGCGATGCAC 0.701 9 26 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64593056 64593056 + Silent SNP A C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:64593056A>C uc001xgm.2 + 72 13796 c.13566A>C c.(13564-13566)ACA>ACC p.T4522T SYNE2_uc001xgl.2_Silent_p.T4522T|SYNE2_uc010apy.2_Silent_p.T907T|SYNE2_uc010apz.1_Silent_p.T414T NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4522 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAAATATGACAGAAGAAGCAT 0.358 16 32 --- --- --- --- PASS PLEKHH1 57475 broad.mit.edu 37 14 68052752 68052752 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:68052752C>A uc001xjl.1 + 28 4013 c.3871C>A c.(3871-3873)CCA>ACA p.P1291T PLEKHH1_uc010tsw.1_Missense_Mutation_p.P859T|PLEKHH1_uc001xjn.1_Missense_Mutation_p.P806T|PLEKHH1_uc010tsx.1_Missense_Mutation_p.P156T|PLEKHH1_uc001xjo.1_Missense_Mutation_p.P156T|PLEKHH1_uc001xjp.1_Missense_Mutation_p.P156T NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 1291 FERM. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) TAGATCTATCCCAGACAAGAG 0.478 8 189 --- --- --- --- PASS EXD2 55218 broad.mit.edu 37 14 69701606 69701606 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:69701606G>C uc001xkt.2 + 7 1191 c.532G>C c.(532-534)GAG>CAG p.E178Q EXD2_uc001xku.2_Missense_Mutation_p.E48Q|EXD2_uc001xkv.2_Missense_Mutation_p.E303Q|EXD2_uc001xkw.2_Missense_Mutation_p.E178Q|EXD2_uc010aqt.2_Missense_Mutation_p.E303Q|EXD2_uc010tte.1_Missense_Mutation_p.E303Q|EXD2_uc001xky.2_Missense_Mutation_p.E178Q NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 178 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 ATTGGGAGAAGAGGTTAATGG 0.478 17 40 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71444805 71444805 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:71444805G>T uc001xmo.2 + 6 2197 c.1751G>T c.(1750-1752)CGA>CTA p.R584L PCNX_uc001xmn.3_Missense_Mutation_p.R584L|PCNX_uc010are.1_Missense_Mutation_p.R584L NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 584 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTTTGCTTTCGAGGTGTTTCT 0.478 5 113 --- --- --- --- PASS TMEM90A 646658 broad.mit.edu 37 14 74876045 74876045 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:74876045G>T uc001xpx.2 - 2 651 c.403C>A c.(403-405)CAG>AAG p.Q135K NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 135 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) TCTTCCTCCTGGTCATCCTCC 0.393 25 72 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96797752 96797752 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:96797752C>A uc001yfi.2 - 11 2056 c.1691G>T c.(1690-1692)CGA>CTA p.R564L NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 564 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AAACACTGCTCGGAAAGACTT 0.368 4 84 --- --- --- --- PASS WARS 7453 broad.mit.edu 37 14 100803432 100803432 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:100803432G>T uc001yhf.1 - 9 1305 c.1221C>A c.(1219-1221)CTC>CTA p.L407L WARS_uc001yhe.1_Silent_p.L213L|WARS_uc001yhg.1_Silent_p.L407L|WARS_uc001yhh.1_Silent_p.L407L|WARS_uc001yhi.1_Silent_p.L366L|WARS_uc001yhj.1_Silent_p.L366L|WARS_uc001yhk.1_Silent_p.L366L|WARS_uc001yhl.1_Silent_p.L407L NM_173701 NP_776049 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase isoform a 407 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(1) 1 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) CGTCGTCCTCGAGGAAGAAGG 0.592 7 231 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102516143 102516143 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:102516143G>A uc001yks.2 + 76 13772 c.13608G>A c.(13606-13608)CTG>CTA p.L4536L NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4536 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 GCTGGTCCCTGGAGGAGCTCT 0.597 23 25 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105408151 105408151 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:105408151A>G uc010axc.1 - 7 13757 c.13637T>C c.(13636-13638)CTG>CCG p.L4546P AHNAK2_uc001ypx.2_Missense_Mutation_p.L4446P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4546 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CACCTTGGGCAGGTGCCCTTT 0.622 91 181 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106518581 106518581 + RNA SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:106518581C>A uc010tyt.1 - 1630 c.32856G>T Parts of antibodies, mostly variable regions. 0 TGGAGCCTGGCGGACCCAGCT 0.572 5 187 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 22466062 22466062 + RNA SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:22466062G>A uc001yui.1 - 1 c.29C>T Homo sapiens clone IgA5728-2 immunoglobulin A heavy chain mRNA, partial cds. TGTGTCTCTCGCACAGTAATA 0.517 28 390 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26812774 26812774 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:26812774C>A uc001zaz.2 - 7 931 c.789G>T c.(787-789)GTG>GTT p.V263V GABRB3_uc010uae.1_Silent_p.V178V|GABRB3_uc001zba.2_Silent_p.V263V|GABRB3_uc001zbb.2_Silent_p.V319V NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 263 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCCAGAAGGACACCCACGACA 0.398 12 46 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29346344 29346344 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:29346344A>G uc001zck.2 + 3 464 c.257A>G c.(256-258)TAT>TGT p.Y86C APBA2_uc010azj.2_Missense_Mutation_p.Y86C|APBA2_uc010uat.1_Missense_Mutation_p.Y86C|APBA2_uc001zcl.2_Missense_Mutation_p.Y86C|APBA2_uc010uas.1_Missense_Mutation_p.Y86C NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 86 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GAGGAGGACTATGACGAGGGC 0.617 15 92 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42702161 42702161 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:42702161G>C uc001zpn.1 + 19 2389 c.2083G>C c.(2083-2085)GAG>CAG p.E695Q CAPN3_uc001zpk.1_Missense_Mutation_p.E462Q|CAPN3_uc001zpl.1_Missense_Mutation_p.E602Q|CAPN3_uc010udf.1_Missense_Mutation_p.E608Q|CAPN3_uc010udg.1_Missense_Mutation_p.E560Q|CAPN3_uc001zpo.1_Missense_Mutation_p.E689Q|CAPN3_uc001zpp.1_Missense_Mutation_p.E603Q|CAPN3_uc001zpq.1_Missense_Mutation_p.E183Q|CAPN3_uc010bcv.1_Missense_Mutation_p.E30Q|CAPN3_uc001zpr.1_Missense_Mutation_p.E30Q|CAPN3_uc001zps.1_Missense_Mutation_p.E30Q|CAPN3_uc001zpt.1_Missense_Mutation_p.E30Q NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 695 EF-hand 2.|Domain IV. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) GTTCACACTGGAGTCCTGCCG 0.607 16 40 --- --- --- --- PASS UBR1 197131 broad.mit.edu 37 15 43367268 43367268 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:43367268C>A uc001zqq.2 - 4 503 c.437G>T c.(436-438)GGA>GTA p.G146V UBR1_uc010udk.1_Missense_Mutation_p.G146V NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 146 UBR-type. cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACAGAACCCTCCTCCAGTAGA 0.368 6 139 --- --- --- --- PASS SLC24A5 283652 broad.mit.edu 37 15 48426537 48426537 + Silent SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:48426537A>G uc001zwe.2 + 3 457 c.384A>G c.(382-384)CTA>CTG p.L128L SLC24A5_uc010bel.2_Silent_p.L68L NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 128 Helical; Name=2; (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CTGCTTTCCTAGGTAAATATT 0.393 24 40 --- --- --- --- PASS MAPK6 5597 broad.mit.edu 37 15 52353627 52353627 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:52353627C>G uc002abp.2 + 5 1791 c.997C>G c.(997-999)CAT>GAT p.H333D NM_002748 NP_002739 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 333 cell cycle ATP binding|MAP kinase activity lung(3)|ovary(1) 4 all cancers(107;0.0028) CCATCCTTTTCATATTGAAGA 0.353 19 49 --- --- --- --- PASS RFX7 64864 broad.mit.edu 37 15 56385972 56385972 + Silent SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:56385972G>C uc010bfn.2 - 9 3954 c.3954C>G c.(3952-3954)ACC>ACG p.T1318T RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.T1132T NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 1221 regulation of transcription, DNA-dependent nucleus DNA binding 0 TATTACTTTTGGTGAGGTAAG 0.383 29 62 --- --- --- --- PASS ADAM10 102 broad.mit.edu 37 15 58971384 58971384 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:58971384C>G uc002afd.1 - 4 867 c.423G>C c.(421-423)GAG>GAC p.E141D ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.E141D NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 141 Extracellular (Potential). cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) TAATATATCTCTCTGCTGGCT 0.368 15 29 --- --- --- --- PASS CA12 771 broad.mit.edu 37 15 63634235 63634235 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:63634235G>A uc002amc.2 - 5 647 c.491C>T c.(490-492)TCA>TTA p.S164L CA12_uc002amd.2_Missense_Mutation_p.S164L|CA12_uc002ame.2_Missense_Mutation_p.S104L NM_001218 NP_001209 O43570 CAH12_HUMAN carbonic anhydrase XII isoform 1 precursor 164 Extracellular (Potential). one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding ovary(1) 1 Acetazolamide(DB00819) GAGGCCTTCTGACTTGTTGCT 0.473 16 19 --- --- --- --- PASS HEXA 3073 broad.mit.edu 37 15 72639016 72639016 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:72639016C>A uc002aun.3 - 11 1389 c.1182G>T c.(1180-1182)GAG>GAT p.E394D uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.E405D|HEXA_uc002auo.3_Missense_Mutation_p.E257D|HEXA_uc010bix.2_Missense_Mutation_p.E394D|HEXA_uc010biy.2_Missense_Mutation_p.E257D|HEXA_uc010uko.1_Missense_Mutation_p.E220D|HEXA_uc010biz.1_RNA NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 394 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 CTGGAATATCCTCTCGCCACA 0.493 7 177 --- --- --- --- PASS AP3B2 8120 broad.mit.edu 37 15 83332678 83332678 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:83332678C>G uc010uoh.1 - 19 2431 c.2254G>C c.(2254-2256)GAG>CAG p.E752Q AP3B2_uc010uoi.1_Missense_Mutation_p.E771Q|AP3B2_uc010uoj.1_Missense_Mutation_p.E720Q|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.E388Q|AP3B2_uc002biy.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 752 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CCTTTTCTCTCTGGCACCTTC 0.537 15 31 --- --- --- --- PASS BNC1 646 broad.mit.edu 37 15 83935710 83935710 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:83935710G>A uc002bjt.1 - 3 401 c.313C>T c.(313-315)CCC>TCC p.P105S BNC1_uc010uos.1_Missense_Mutation_p.P93S NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 105 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AGGCGAACGGGGATGGCCTGG 0.507 22 55 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84553954 84553954 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:84553954G>T uc002bjz.3 + 10 1286 c.1062G>T c.(1060-1062)ACG>ACT p.T354T ADAMTSL3_uc010bmt.1_Silent_p.T354T|ADAMTSL3_uc010bmu.1_Silent_p.T354T NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 354 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GCACTGTGACGTGTGGAGGAG 0.433 11 29 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88678483 88678483 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr15:88678483T>A uc002bme.1 - 9 1215 c.1053A>T c.(1051-1053)GAA>GAT p.E351D NTRK3_uc002bmh.2_Missense_Mutation_p.E351D|NTRK3_uc002bmf.1_Missense_Mutation_p.E351D|NTRK3_uc010upl.1_Missense_Mutation_p.E253D|NTRK3_uc010bnh.1_Missense_Mutation_p.E351D|NTRK3_uc002bmg.2_Missense_Mutation_p.E351D NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 351 Ig-like C2-type 2.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) CTTGGTAGTATTCCACATGGA 0.552 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 19 73 --- --- --- --- PASS ZSCAN10 84891 broad.mit.edu 37 16 3142733 3142733 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:3142733C>A uc002ctv.1 - 1 129 c.41G>T c.(40-42)TGC>TTC p.C14F ZSCAN10_uc002cty.1_Intron|ZSCAN10_uc002ctw.1_Silent_p.L21L|ZSCAN10_uc002ctx.1_5'UTR NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 14 SCAN box. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CCAGTGGCCGCAGAGCTCCCG 0.662 9 4 --- --- --- --- PASS MEFV 4210 broad.mit.edu 37 16 3304583 3304583 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:3304583C>G uc002cun.1 - 2 525 c.485G>C c.(484-486)AGA>ACA p.R162T NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 162 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) GGCCTTCTCTCTGCGTTTGCT 0.761 5 2 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3778059 3778059 + Missense_Mutation SNP A C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:3778059A>C uc002cvv.2 - 31 7193 c.6989T>G c.(6988-6990)CTC>CGC p.L2330R CREBBP_uc002cvw.2_Missense_Mutation_p.L2292R NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 2330 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTGGCCAGGGAGATGCGAGGC 0.642 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 31 16 --- --- --- --- PASS NOMO1 23420 broad.mit.edu 37 16 14960470 14960470 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:14960470G>T uc002dcv.2 + 15 1794 c.1728G>T c.(1726-1728)CTG>CTT p.L576L NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 576 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 TGGAAGTGCTGGAGGATGACA 0.507 6 111 --- --- --- --- PASS GTF3C1 2975 broad.mit.edu 37 16 27497327 27497327 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:27497327G>T uc002dov.1 - 24 3889 c.3849C>A c.(3847-3849)CTC>CTA p.L1283L GTF3C1_uc002dou.2_Silent_p.L1283L NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1283 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CCTTGGTGTTGAGGACATTGC 0.642 5 75 --- --- --- --- PASS MAZ 4150 broad.mit.edu 37 16 29819136 29819136 + Nonsense_Mutation SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:29819136A>T uc002dty.2 + 2 1198 c.1030A>T c.(1030-1032)AAG>TAG p.K344* uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Nonsense_Mutation_p.K321*|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Nonsense_Mutation_p.K344*|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Nonsense_Mutation_p.K62*|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 344 C2H2-type 4. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 CCACTGTGGCAAGAGCTTCTC 0.697 17 15 --- --- --- --- PASS ZNF267 10308 broad.mit.edu 37 16 31926601 31926601 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:31926601C>A uc002ecs.3 + 4 1240 c.1031C>A c.(1030-1032)CCT>CAT p.P344H NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 344 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 CAGATCATTCCTACCGAAGAG 0.363 7 176 --- --- --- --- PASS ZNF267 10308 broad.mit.edu 37 16 31927618 31927618 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:31927618C>G uc002ecs.3 + 4 2257 c.2048C>G c.(2047-2049)ACT>AGT p.T683S NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 683 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 AGAAGACATACTGGAGAGAGA 0.453 64 51 --- --- --- --- PASS CHD9 80205 broad.mit.edu 37 16 53279391 53279391 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:53279391G>T uc002ehb.2 + 13 3362 c.3198G>T c.(3196-3198)CAG>CAT p.Q1066H CHD9_uc002egy.2_Missense_Mutation_p.Q1066H|CHD9_uc002eha.1_Missense_Mutation_p.Q1066H|CHD9_uc002ehc.2_Missense_Mutation_p.Q1066H|CHD9_uc002ehf.2_Missense_Mutation_p.Q180H|CHD9_uc002ehd.2_Missense_Mutation_p.Q592H|CHD9_uc002ehe.1_Missense_Mutation_p.Q180H NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1066 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CAGAGGAACAGGTATCCTATT 0.303 4 33 --- --- --- --- PASS RPGRIP1L 23322 broad.mit.edu 37 16 53726041 53726041 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:53726041G>T uc002ehp.2 - 4 530 c.466C>A c.(466-468)CGT>AGT p.R156S RPGRIP1L_uc002eho.3_Missense_Mutation_p.R156S|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R156S|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R156S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R156S|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R156S NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 156 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) GTGTTAATACGAGATTGTACA 0.378 4 107 --- --- --- --- PASS NLRC5 84166 broad.mit.edu 37 16 57059801 57059801 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:57059801A>G uc002ekk.1 + 6 1171 c.946A>G c.(946-948)ATG>GTG p.M316V NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.M121V|NLRC5_uc002ekl.2_Missense_Mutation_p.M121V|NLRC5_uc002ekm.2_Missense_Mutation_p.M121V|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 316 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CCTCCAGCCTATGGGTCCTGA 0.602 19 23 --- --- --- --- PASS PDPR 55066 broad.mit.edu 37 16 70190383 70190383 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:70190383G>T uc002eyf.1 + 19 3198 c.2241G>T c.(2239-2241)ATG>ATT p.M747I CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.M647I|PDPR_uc002eyg.1_Missense_Mutation_p.M414I|PDPR_uc002eyh.2_Missense_Mutation_p.M92I|PDPR_uc010vls.1_Missense_Mutation_p.M92I NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 747 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) CTTAGGGCATGGATTTCATTG 0.552 24 124 --- --- --- --- PASS COG4 25839 broad.mit.edu 37 16 70543256 70543256 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:70543256C>A uc002ezc.2 - 7 891 c.880G>T c.(880-882)GTG>TTG p.V294L COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.V294L|COG4_uc002eze.2_5'UTR NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 290 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) TAGGTCTCCACTATTGGCTGG 0.463 15 19 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72170400 72170400 + Missense_Mutation SNP C G G rs149950926 byFrequency TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:72170400C>G uc002fcc.3 - 9 1322 c.1150G>C c.(1150-1152)GAG>CAG p.E384Q PMFBP1_uc002fcd.2_Missense_Mutation_p.E384Q|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E239Q NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 384 Potential. ovary(2) 2 Ovarian(137;0.179) AGCTGCAGCTCCTGCAGCCGG 0.557 10 30 --- --- --- --- PASS BCMO1 53630 broad.mit.edu 37 16 81298358 81298358 + Missense_Mutation SNP G T T rs145899743 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:81298358G>T uc002fgn.1 + 5 803 c.585G>T c.(583-585)AAG>AAT p.K195N BCMO1_uc010vnp.1_Missense_Mutation_p.K126N NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 195 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 GGAAGACAAAGTATGTGATTT 0.443 20 22 --- --- --- --- PASS PLCG2 5336 broad.mit.edu 37 16 81819732 81819732 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:81819732C>T uc002fgt.2 + 2 290 c.138C>T c.(136-138)ATC>ATT p.I46I PLCG2_uc010chg.1_Silent_p.I46I NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 46 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TCCAGGTGATCATGGAGACGC 0.627 13 13 --- --- --- --- PASS SMYD4 114826 broad.mit.edu 37 17 1687711 1687711 + Silent SNP G A A rs144396164 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:1687711G>A uc002ftm.3 - 8 2097 c.1929C>T c.(1927-1929)TCC>TCT p.S643S SMYD4_uc002ftn.1_Silent_p.S498S NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 643 zinc ion binding skin(3)|kidney(2) 5 TGCTGACGGCGGATTCTGCAC 0.547 OREG0024075 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 35 --- --- --- --- PASS UBE2G1 7326 broad.mit.edu 37 17 4192629 4192629 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:4192629C>A uc002fxs.2 - 4 680 c.322G>T c.(322-324)GAG>TAG p.E108* NM_003342 NP_003333 P62253 UB2G1_HUMAN ubiquitin-conjugating enzyme E2G 1 108 protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity 0 CAGCGTTCCTCTGGCTTTTCA 0.428 5 63 --- --- --- --- PASS ZNF594 84622 broad.mit.edu 37 17 5086471 5086471 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:5086471C>A uc010cla.1 - 2 1237 c.1081G>T c.(1081-1083)GAG>TAG p.E361* NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 361 C2H2-type 9; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 CTAAGCTCCTCATCCTTGCTG 0.453 6 149 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577505 7577505 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:7577505T>A uc002gim.2 - 7 970 c.776A>T c.(775-777)GAC>GTC p.D259V TP53_uc002gig.1_Missense_Mutation_p.D259V|TP53_uc002gih.2_Missense_Mutation_p.D259V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D127V|TP53_uc010cng.1_Missense_Mutation_p.D127V|TP53_uc002gii.1_Missense_Mutation_p.D127V|TP53_uc010cnh.1_Missense_Mutation_p.D259V|TP53_uc010cni.1_Missense_Mutation_p.D259V|TP53_uc002gij.2_Missense_Mutation_p.D259V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.D166V|TP53_uc002gio.2_Missense_Mutation_p.D127V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 259 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). D -> Y (in sporadic cancers; somatic mutation).|D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.D259Y(19)|p.D259V(13)|p.0?(7)|p.D259N(6)|p.D259fs*86(4)|p.D259G(4)|p.D259fs*5(3)|p.D259E(3)|p.D259D(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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) TGACCTGGAGTCTTCCAGTGT 0.587 111 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) 8 12 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577506 7577506 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:7577506C>A uc002gim.2 - 7 969 c.775G>T c.(775-777)GAC>TAC p.D259Y TP53_uc002gig.1_Missense_Mutation_p.D259Y|TP53_uc002gih.2_Missense_Mutation_p.D259Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D127Y|TP53_uc010cng.1_Missense_Mutation_p.D127Y|TP53_uc002gii.1_Missense_Mutation_p.D127Y|TP53_uc010cnh.1_Missense_Mutation_p.D259Y|TP53_uc010cni.1_Missense_Mutation_p.D259Y|TP53_uc002gij.2_Missense_Mutation_p.D259Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.D166Y|TP53_uc002gio.2_Missense_Mutation_p.D127Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 259 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). D -> Y (in sporadic cancers; somatic mutation).|D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.D259Y(19)|p.D259V(13)|p.0?(7)|p.D259N(6)|p.D259fs*86(4)|p.D259G(4)|p.D259fs*5(3)|p.D259E(3)|p.D259D(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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) GACCTGGAGTCTTCCAGTGTG 0.582 111 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) 8 12 --- --- --- --- PASS TOP3A 7156 broad.mit.edu 37 17 18196077 18196077 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:18196077C>T uc002gsx.1 - 11 1392 c.1163G>A c.(1162-1164)CGC>CAC p.R388H TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.R286H NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 388 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 GGCCCCCCAGCGTGGATCGGG 0.547 27 26 --- --- --- --- PASS KCNH4 23415 broad.mit.edu 37 17 40332908 40332908 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:40332908G>T uc002hzb.2 - 1 389 c.56C>A c.(55-57)GCC>GAC p.A19D NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 19 Cytoplasmic (Potential).|PAS. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AAAACGGGTGGCGATGGTGTC 0.652 24 96 --- --- --- --- PASS KCNH4 23415 broad.mit.edu 37 17 40332909 40332909 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:40332909C>T uc002hzb.2 - 1 388 c.55G>A c.(55-57)GCC>ACC p.A19T NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 19 Cytoplasmic (Potential).|PAS. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AAACGGGTGGCGATGGTGTCC 0.652 25 94 --- --- --- --- PASS PTRF 284119 broad.mit.edu 37 17 40575028 40575028 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:40575028G>C uc002hzo.2 - 1 247 c.88C>G c.(88-90)CAG>GAG p.Q30E PTRF_uc010wgi.1_Missense_Mutation_p.Q30E NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 30 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) TCCGCTGCCTGAGCCCCAGCG 0.677 9 13 --- --- --- --- PASS PTRF 284119 broad.mit.edu 37 17 40575045 40575045 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:40575045G>A uc002hzo.2 - 1 230 c.71C>T c.(70-72)CCT>CTT p.P24L PTRF_uc010wgi.1_Missense_Mutation_p.P24L NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 24 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) AGCGGAGGAAGGCTCCGGGGC 0.711 9 9 --- --- --- --- PASS BECN1 8678 broad.mit.edu 37 17 40966595 40966595 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:40966595C>G uc002ibo.3 - 9 1062 c.927G>C c.(925-927)CAG>CAC p.Q309H BECN1_uc010whb.1_Missense_Mutation_p.Q222H|BECN1_uc010whc.1_Missense_Mutation_p.Q233H|BECN1_uc002ibn.2_Missense_Mutation_p.Q309H NM_003766 NP_003757 Q14457 BECN1_HUMAN beclin 1 309 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding ovary(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) GCAACACAGTCTGGCCCCAAG 0.493 15 56 --- --- --- --- PASS RUNDC1 146923 broad.mit.edu 37 17 41143505 41143505 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:41143505G>A uc002ici.1 + 5 1626 c.1614G>A c.(1612-1614)TTG>TTA p.L538L RUNDC1_uc010whi.1_Silent_p.L308L NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 538 RUN. 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) ACTCAGAATTGAAGGCCTTGG 0.562 9 18 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42478693 42478693 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:42478693G>T uc002igw.1 - 8 816 c.752C>A c.(751-753)TCT>TAT p.S251Y GPATCH8_uc002igv.1_Missense_Mutation_p.S173Y|GPATCH8_uc010wiz.1_Missense_Mutation_p.S173Y NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 251 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGAGAATTCAGATCCCAGGCC 0.502 31 74 --- --- --- --- PASS ACBD4 79777 broad.mit.edu 37 17 43214419 43214419 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:43214419G>C uc002iid.2 + 5 672 c.328G>C c.(328-330)GAG>CAG p.E110Q ACBD4_uc010wjj.1_Missense_Mutation_p.E110Q|ACBD4_uc002iie.2_Missense_Mutation_p.E110Q|ACBD4_uc002iif.2_Missense_Mutation_p.E110Q|ACBD4_uc002iic.2_Missense_Mutation_p.E110Q|ACBD4_uc010dae.2_Missense_Mutation_p.E32Q NM_001135707 NP_001129179 Q8NC06 ACBD4_HUMAN acyl-Coenzyme A binding domain containing 4 110 fatty-acyl-CoA binding ovary(1)|kidney(1) 2 TGAGGTGGCAGAGGACATGTT 0.622 6 19 --- --- --- --- PASS KIAA1267 284058 broad.mit.edu 37 17 44248240 44248240 + Nonsense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:44248240C>A uc002ikb.2 - 1 1355 c.1270G>T c.(1270-1272)GAG>TAG p.E424* KIAA1267_uc002ikc.2_Nonsense_Mutation_p.E424*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.E424*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.E424* NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 424 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) TGACGCTGCTCGGGATCAGCT 0.463 6 377 --- --- --- --- PASS RSAD1 55316 broad.mit.edu 37 17 48560734 48560734 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:48560734G>A uc002iqw.1 + 6 994 c.938G>A c.(937-939)GGA>GAA p.G313E RSAD1_uc010wmq.1_RNA NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 313 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CAGGGGGCTGGAGGCCACACC 0.547 4 11 --- --- --- --- PASS DGKE 8526 broad.mit.edu 37 17 54912380 54912380 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:54912380G>T uc002iur.2 + 2 404 c.224G>T c.(223-225)TGC>TTC p.C75F DGKE_uc002ius.1_Missense_Mutation_p.C75F|C17orf67_uc002iuq.2_5'Flank NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 75 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) ACCTACTGCTGCGTGTGCGCG 0.687 7 23 --- --- --- --- PASS BZRAP1 9256 broad.mit.edu 37 17 56387418 56387418 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:56387418C>T uc002ivx.3 - 21 4672 c.3801G>A c.(3799-3801)GAG>GAA p.E1267E BZRAP1_uc010dcs.2_Silent_p.E1207E|BZRAP1_uc010wnt.1_Silent_p.E1267E NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1267 Poly-Glu. mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) cctcctcctcctcctcttcct 0.468 22 59 --- --- --- --- PASS BCAS3 54828 broad.mit.edu 37 17 59155868 59155868 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:59155868G>T uc002iyv.3 + 22 2459 c.2350G>T c.(2350-2352)GAT>TAT p.D784Y BCAS3_uc002iyu.3_Missense_Mutation_p.D769Y|BCAS3_uc002iyw.3_Missense_Mutation_p.D765Y|BCAS3_uc002iyy.3_Missense_Mutation_p.D540Y|BCAS3_uc002iyz.3_Missense_Mutation_p.D338Y|BCAS3_uc002iza.3_Missense_Mutation_p.D323Y NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 784 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TGATACAGATGATCTTGATCT 0.408 16 30 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62034644 62034644 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:62034644G>T uc002jds.1 - 13 2331 c.2254C>A c.(2254-2256)CTC>ATC p.L752I NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 752 II. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) AAGACGATGAGGAAGGAGTGG 0.577 5 72 --- --- --- --- PASS DDX5 1655 broad.mit.edu 37 17 62500359 62500359 + Missense_Mutation SNP A C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:62500359A>C uc002jek.2 - 3 535 c.288T>G c.(286-288)TTT>TTG p.F96L CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_Missense_Mutation_p.F96L|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 96 Q motif. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TGGCTTCATAAAAATTTAGAA 0.393 T ETV4 prostate 26 75 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78322000 78322000 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:78322000C>T uc002jyh.1 + 4 4307 c.4084C>T c.(4084-4086)CAC>TAC p.H1362Y NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GGAGTACTTTCACAGACAGAG 0.597 4 30 --- --- --- --- PASS PYCR1 5831 broad.mit.edu 37 17 79891161 79891161 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:79891161C>T uc002kcr.1 - 7 1167 c.889G>A c.(889-891)GGG>AGG p.G297R PYCR1_uc002kcq.1_3'UTR|PYCR1_uc002kcp.2_Intron|PYCR1_uc002kcs.1_3'UTR|PYCR1_uc010wvd.1_Missense_Mutation_p.G324R|PYCR1_uc002kct.1_Missense_Mutation_p.G297R|PYCR1_uc002kcu.1_Missense_Mutation_p.G266R NM_006907 NP_008838 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 isoform 1 297 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) AGAGCGGTCCCTGCAGGGGAG 0.637 13 28 --- --- --- --- PASS FASN 2194 broad.mit.edu 37 17 80053236 80053236 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:80053236C>T uc002kdu.2 - 3 357 c.240G>A c.(238-240)CGG>CGA p.R80R NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 80 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CCAGCAGCAGCCGCAGCTGAG 0.632 11 10 --- --- --- --- PASS C17orf101 79701 broad.mit.edu 37 17 80369398 80369398 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr17:80369398G>A uc002keu.1 - 3 414 c.313C>T c.(313-315)CCC>TCC p.P105S C17orf101_uc002ket.1_Missense_Mutation_p.P105S|C17orf101_uc010dip.1_RNA NM_024648 NP_078924 Q6PK18 CQ101_HUMAN hypothetical protein LOC79701 isoform 1 105 Lumenal (Potential). integral to membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1) 1 CACTTTCGGGGAGTGCAGCCT 0.622 16 30 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6949175 6949175 + Silent SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr18:6949175T>C uc002knm.2 - 59 8575 c.8481A>G c.(8479-8481)GGA>GGG p.G2827G LAMA1_uc002knk.2_Silent_p.G157G|LAMA1_uc002knl.2_Silent_p.G280G|LAMA1_uc010wzj.1_Silent_p.G2303G NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2827 Laminin G-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAGCATGGTTCCATCTCCCA 0.483 7 34 --- --- --- --- PASS ROCK1 6093 broad.mit.edu 37 18 18608740 18608740 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr18:18608740C>T uc002kte.2 - 10 2149 c.1208G>A c.(1207-1209)CGT>CAT p.R403H NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 403 Interaction with FHOD1.|AGC-kinase C-terminal. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TACTTACCTACGATTGCTATA 0.308 18 58 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22804669 22804669 + Silent SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr18:22804669G>C uc002kvk.2 - 4 3460 c.3213C>G c.(3211-3213)CTC>CTG p.L1071L ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.L1071L|ZNF521_uc002kvl.2_Silent_p.L851L NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1071 C2H2-type 25; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGAATTCTTTGAGGCAAGATG 0.522 T PAX5 ALL 17 47 --- --- --- --- PASS RNF125 54941 broad.mit.edu 37 18 29648306 29648306 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr18:29648306C>T uc002kxf.1 + 6 1040 c.658C>T c.(658-660)CGG>TGG p.R220W NM_017831 NP_060301 Q96EQ8 RN125_HUMAN ring finger protein 125 220 negative regulation of type I interferon production intracellular ligase activity|zinc ion binding 0 AGTCTTAGACCGGTCACTTCT 0.328 7 34 --- --- --- --- PASS SYT4 6860 broad.mit.edu 37 18 40850348 40850348 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr18:40850348G>A uc002law.2 - 4 1605 c.1236C>T c.(1234-1236)CCC>CCT p.P412P SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.P394P|SYT4_uc010dnh.2_RNA NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 412 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TTTGTCTCCTGGGGTAGTCAC 0.488 64 163 --- --- --- --- PASS ME2 4200 broad.mit.edu 37 18 48434457 48434457 + Nonsense_Mutation SNP C T T rs138563580 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr18:48434457C>T uc002ley.2 + 3 389 c.133C>T c.(133-135)CGA>TGA p.R45* ME2_uc010dpd.2_Nonsense_Mutation_p.R45* NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 45 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TTTACAAGAACGACAAATGCT 0.338 15 54 --- --- --- --- PASS STXBP2 6813 broad.mit.edu 37 19 7712063 7712063 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:7712063C>T uc002mha.3 + 17 1513 c.1468C>T c.(1468-1470)CGG>TGG p.R490W STXBP2_uc002mhb.3_Missense_Mutation_p.R487W|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.R501W|STXBP2_uc010dvk.2_Missense_Mutation_p.R458W|STXBP2_uc002mhc.3_Missense_Mutation_p.R226W|STXBP2_uc002mhe.1_3'UTR NM_006949 NP_008880 Q15833 STXB2_HUMAN syntaxin binding protein 2 isoform a 490 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding central_nervous_system(1) 1 CGTGGAGGACCGGCTGGACAG 0.637 5 11 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8993007 8993007 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:8993007T>C uc002mkp.2 - 67 41956 c.41752A>G c.(41752-41754)ACC>GCC p.T13918A MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T735A|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13921 Extracellular (Potential). Missing (in Ref. 3; AAK74120). 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 GAATACTCACTGCTGGTGGTG 0.532 29 82 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9577339 9577339 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:9577339G>C uc002mlp.1 - 10 2494 c.2284C>G c.(2284-2286)CAT>GAT p.H762D ZNF560_uc010dwr.1_Missense_Mutation_p.H656D NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 762 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TCTCCCATATGAGTTCTTAAA 0.433 26 88 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10083669 10083669 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:10083669A>G uc002mmq.1 - 51 3786 c.3700T>C c.(3700-3702)TCA>CCA p.S1234P NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1234 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) GATGGGCCTGAGTCCCCCTTT 0.592 3 10 --- --- --- --- PASS DOCK6 57572 broad.mit.edu 37 19 11362852 11362852 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:11362852G>A uc002mqs.3 - 5 491 c.450C>T c.(448-450)CCC>CCT p.P150P NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 150 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 AGACCTGGCGGGGGAGGCCCT 0.627 3 5 --- --- --- --- PASS CCDC151 115948 broad.mit.edu 37 19 11537557 11537557 + Silent SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:11537557C>G uc002mrs.2 - 5 803 c.660G>C c.(658-660)GCG>GCC p.A220A CCDC151_uc002mrr.2_Silent_p.A155A|CCDC151_uc010dxz.2_Intron NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 220 Potential. ovary(1) 1 CGGCCTCCTGCGCCTTCATCT 0.622 4 11 --- --- --- --- PASS ELAVL3 1995 broad.mit.edu 37 19 11577040 11577040 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:11577040C>T uc002mry.1 - 3 660 c.280G>A c.(280-282)GAC>AAC p.D94N ELAVL3_uc002mrx.1_Missense_Mutation_p.D94N NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 94 RRM 1. cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 ATGGCTTTGTCTGCATCATTG 0.547 15 48 --- --- --- --- PASS FARSA 2193 broad.mit.edu 37 19 13041515 13041515 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:13041515C>T uc002mvs.2 - 2 244 c.196G>A c.(196-198)GAG>AAG p.E66K FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.E66K|FARSA_uc010dyy.1_Intron NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 66 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) TCCTCGCCCTCCGCAGTAAGC 0.632 15 21 --- --- --- --- PASS OR7A10 390892 broad.mit.edu 37 19 14951900 14951900 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:14951900C>G uc002mzx.1 - 1 790 c.790G>C c.(790-792)GCC>CCC p.A264P NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) TTGTGGGTGGCAGCAGAACTA 0.483 25 52 --- --- --- --- PASS SLC35E1 79939 broad.mit.edu 37 19 16664518 16664518 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:16664518G>T uc010xph.1 - 6 1223 c.1205C>A c.(1204-1206)TCG>TAG p.S402* MED26_uc002nee.2_Intron NM_024881 NP_079157 Q96K37 S35E1_HUMAN solute carrier family 35, member E1 402 transport integral to membrane ovary(1)|central_nervous_system(1) 2 CAAACTGTACGAGTTTGGGTA 0.542 5 107 --- --- --- --- PASS SFRS14 10147 broad.mit.edu 37 19 19112431 19112431 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:19112431G>T uc002nkx.2 - 8 3128 c.2982C>A c.(2980-2982)TCC>TCA p.S994S SFRS14_uc002nkz.1_Silent_p.S1008S|SFRS14_uc002nla.1_Silent_p.S994S|SFRS14_uc002nlb.2_Silent_p.S994S|SFRS14_uc010xqk.1_Silent_p.S763S NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 994 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) CCTTCTTTTTGGACATGGGAC 0.433 5 52 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22941187 22941187 + Silent SNP A T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:22941187A>T uc010xrh.1 - 5 1251 c.1251T>A c.(1249-1251)CCT>CCA p.P417P NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CACATTTGCAAGGTTTCTCTT 0.348 19 50 --- --- --- --- PASS CHST8 64377 broad.mit.edu 37 19 34262868 34262868 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:34262868C>T uc002nus.3 + 5 680 c.175C>T c.(175-177)CCA>TCA p.P59S CHST8_uc002nut.3_Missense_Mutation_p.P59S|CHST8_uc002nuu.2_Missense_Mutation_p.P59S NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 59 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) CCAGGACCTCCCACCAGGCGG 0.637 14 34 --- --- --- --- PASS CD22 933 broad.mit.edu 37 19 35823475 35823475 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:35823475C>A uc010edt.2 + 3 137 c.60C>A c.(58-60)GAC>GAA p.D20E CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.D20E|CD22_uc010edv.2_Missense_Mutation_p.D20E|CD22_uc002nzb.3_Missense_Mutation_p.D20E NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 20 Extracellular (Potential).|Ig-like V-type. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CTTTCTCTGACTCAAGTAAAT 0.458 9 23 --- --- --- --- PASS ZNF585B 92285 broad.mit.edu 37 19 37680650 37680650 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:37680650G>C uc002ofq.2 - 4 459 c.205C>G c.(205-207)CAA>GAA p.Q69E ZNF585B_uc002ofr.1_Translation_Start_Site NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTAGGAACTTGATACCCTGTT 0.468 7 42 --- --- --- --- PASS ZNF383 163087 broad.mit.edu 37 19 37734138 37734138 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:37734138G>T uc002oft.1 + 8 1580 c.1000G>T c.(1000-1002)GGT>TGT p.G334C ZNF383_uc002ofs.1_Missense_Mutation_p.G269C|ZNF383_uc002ofu.1_Missense_Mutation_p.G334C NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATTCATACTGGTGAGAAACC 0.428 6 94 --- --- --- --- PASS RPS19 6223 broad.mit.edu 37 19 42373788 42373788 + Nonsense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:42373788C>T uc002ort.2 + 5 748 c.376C>T c.(376-378)CAG>TAG p.Q126* NM_001022 NP_001013 P39019 RS19_HUMAN ribosomal protein S19 126 endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 ACTGACACCTCAGGGACAAAG 0.617 Diamond-Blackfan_Anemia 13 53 --- --- --- --- PASS CLPTM1 1209 broad.mit.edu 37 19 45493665 45493665 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:45493665G>T uc002pai.2 + 10 1160 c.1145G>T c.(1144-1146)TGG>TTG p.W382L CLPTM1_uc010xxf.1_Missense_Mutation_p.W280L|CLPTM1_uc010xxg.1_Missense_Mutation_p.W368L NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 382 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) ATCCAGTTCTGGAACAGCCGG 0.627 5 87 --- --- --- --- PASS PGLYRP1 8993 broad.mit.edu 37 19 46526200 46526200 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:46526200G>T uc002pdx.1 - 1 124 c.80C>A c.(79-81)CCG>CAG p.P27Q NM_005091 NP_005082 O75594 PGRP1_HUMAN peptidoglycan recognition protein 1 precursor 27 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(2) 2 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) GCAGCAGGCCGGGTCTTCTGT 0.662 3 2 --- --- --- --- PASS GRWD1 83743 broad.mit.edu 37 19 48949683 48949683 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:48949683G>T uc002pjd.2 + 2 462 c.229G>T c.(229-231)GGA>TGA p.G77* NM_031485 NP_113673 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 77 nucleolus ovary(1) 1 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) GGATCACCTGGGAGACAACCG 0.552 OREG0025607 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 46 --- --- --- --- PASS RCN3 57333 broad.mit.edu 37 19 50040310 50040310 + Missense_Mutation SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:50040310G>C uc002poj.2 + 4 913 c.466G>C c.(466-468)GAG>CAG p.E156Q NM_020650 NP_065701 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 156 endoplasmic reticulum lumen calcium ion binding|protein binding ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) TCATGACGTGGAGGATGCAGA 0.532 51 146 --- --- --- --- PASS SIGLEC11 114132 broad.mit.edu 37 19 50463852 50463852 + Silent SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:50463852C>G uc010ybh.1 - 2 508 c.417G>C c.(415-417)GTG>GTC p.V139V SIGLEC11_uc010ybi.1_Silent_p.V139V NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 139 Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) AACTATGTCTCACACGGCTTC 0.567 10 39 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54401227 54401227 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:54401227C>A uc002qcq.1 + 10 1236 c.954C>A c.(952-954)GGC>GGA p.G318G PRKCG_uc010yef.1_Missense_Mutation_p.A289D|PRKCG_uc010yeg.1_Silent_p.G318G|PRKCG_uc010yeh.1_Silent_p.G205G NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 318 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TGCGGATGGGcccctcttcct 0.478 20 50 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55086892 55086892 + Silent SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:55086892C>T uc002qgg.3 + 5 914 c.825C>T c.(823-825)CTC>CTT p.L275L LILRA2_uc010ern.2_Silent_p.L275L|LILRA2_uc002qgf.2_Silent_p.L275L|LILRA2_uc010yfe.1_Silent_p.L275L|LILRA2_uc010yff.1_Silent_p.L263L|LILRA2_uc010ero.2_Silent_p.L263L|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 275 Ig-like C2-type 3.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) AGGCTGGGCTCTCCCAGGCCA 0.617 12 47 --- --- --- --- PASS PTPRH 5794 broad.mit.edu 37 19 55713428 55713428 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:55713428G>T uc002qjq.2 - 6 1222 c.1149C>A c.(1147-1149)ACC>ACA p.T383T PTPRH_uc010esv.2_Silent_p.T205T|PTPRH_uc002qjs.2_Silent_p.T390T NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 383 Extracellular (Potential).|Fibronectin type-III 4. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TCTCACCTGTGGTGGCATTTC 0.483 9 544 --- --- --- --- PASS BRSK1 84446 broad.mit.edu 37 19 55813535 55813535 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:55813535C>A uc002qkg.2 + 9 1133 c.856C>A c.(856-858)CTA>ATA p.L286I BRSK1_uc002qkf.2_Missense_Mutation_p.L302I|BRSK1_uc002qkh.2_5'UTR NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 286 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TCCTTGGTACCTGTGAGTATG 0.562 OREG0025680 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 924 --- --- --- --- PASS UBE2S 27338 broad.mit.edu 37 19 55912921 55912921 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:55912921G>T uc002qkx.1 - 4 920 c.552C>A c.(550-552)GCC>GCA p.A184A NM_014501 NP_055316 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 184 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity 0 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) GGCCCCCTGGGGCCCCAGGGT 0.701 8 182 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56369237 56369237 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56369237G>T uc002qmd.3 + 3 900 c.478G>T c.(478-480)GGA>TGA p.G160* NLRP4_uc002qmf.2_Nonsense_Mutation_p.G85*|NLRP4_uc010etf.2_5'UTR NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 160 NACHT.|ATP (Potential). ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACAAGGAATTGGAAAAACGAC 0.473 12 889 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56372833 56372833 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56372833G>T uc002qmd.3 + 4 2360 c.1938G>T c.(1936-1938)CAG>CAT p.Q646H NLRP4_uc002qmf.2_Missense_Mutation_p.Q571H|NLRP4_uc010etf.2_Missense_Mutation_p.Q477H NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 646 LRR 1. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TCCAGGTGCAGGACAGCACCC 0.567 10 568 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56372849 56372849 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56372849G>T uc002qmd.3 + 4 2376 c.1954G>T c.(1954-1956)GAG>TAG p.E652* NLRP4_uc002qmf.2_Nonsense_Mutation_p.E577*|NLRP4_uc010etf.2_Nonsense_Mutation_p.E483* NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 652 LRR 1. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CACCCTCAGCGAGTCGACCTT 0.567 7 597 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56423905 56423905 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56423905C>A uc010ygg.1 - 5 1303 c.1278G>T c.(1276-1278)ATG>ATT p.M426I NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 426 NACHT. 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) TCCAACACACCATGGGGGCAC 0.438 12 911 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56465898 56465898 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56465898G>T uc002qmh.2 + 3 545 c.474G>T c.(472-474)ATG>ATT p.M158I NLRP8_uc010etg.2_Missense_Mutation_p.M158I NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 158 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CGAATGTGATGGAAAAGTTTT 0.423 13 857 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56549482 56549482 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56549482G>T uc002qmj.2 + 10 2707 c.2707G>T c.(2707-2709)GGA>TGA p.G903* NLRP5_uc002qmi.2_Nonsense_Mutation_p.G884* NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 903 LRR 7. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAGCCTGGCAGGAAACAAGGT 0.542 11 929 --- --- --- --- PASS GALP 85569 broad.mit.edu 37 19 56694541 56694541 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56694541G>T uc002qmo.1 + 5 337 c.255G>T c.(253-255)AAG>AAT p.K85N GALP_uc010eti.2_3'UTR NM_033106 NP_149097 Q9UBC7 GALP_HUMAN galanin-like peptide isoform 1 precursor 85 neuropeptide signaling pathway extracellular region hormone activity 0 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) AGCCCTCCAAGAGGAATGTGA 0.388 9 637 --- --- --- --- PASS ZSCAN5B 342933 broad.mit.edu 37 19 56701770 56701770 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56701770G>T uc010ygh.1 - 4 914 c.914C>A c.(913-915)TCC>TAC p.S305Y NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 305 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TTGGGAAATGGAGGAGGCATC 0.537 14 914 --- --- --- --- PASS ZSCAN5A 79149 broad.mit.edu 37 19 56733294 56733294 + Nonsense_Mutation SNP C A A rs142761513 byFrequency TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56733294C>A uc002qmq.2 - 5 1307 c.1141G>T c.(1141-1143)GAG>TAG p.E381* ZSCAN5A_uc010ygi.1_Nonsense_Mutation_p.E264*|ZSCAN5A_uc002qmr.2_Nonsense_Mutation_p.E381*|ZSCAN5A_uc002qms.1_Nonsense_Mutation_p.E380* NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 381 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 AAGAGTCTCTCGCCTGTGTGT 0.517 10 559 --- --- --- --- PASS ZSCAN5A 79149 broad.mit.edu 37 19 56733549 56733549 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56733549T>C uc002qmq.2 - 5 1052 c.886A>G c.(886-888)AGT>GGT p.S296G ZSCAN5A_uc010ygi.1_Missense_Mutation_p.S179G|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.S296G|ZSCAN5A_uc002qms.1_Missense_Mutation_p.S295G NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 296 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CTTTTGGGACTGCTCAGATTC 0.542 774 59 --- --- --- --- PASS ZSCAN5A 79149 broad.mit.edu 37 19 56733550 56733550 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr19:56733550G>T uc002qmq.2 - 5 1051 c.885C>A c.(883-885)AGC>AGA p.S295R ZSCAN5A_uc010ygi.1_Missense_Mutation_p.S178R|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.S295R|ZSCAN5A_uc002qms.1_Missense_Mutation_p.S294R NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 295 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 TTTTGGGACTGCTCAGATTCA 0.542 776 58 --- --- --- --- PASS BTBD3 22903 broad.mit.edu 37 20 11899249 11899249 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:11899249G>T uc002wnz.2 + 1 685 c.326G>T c.(325-327)AGA>ATA p.R109I BTBD3_uc002wny.2_Missense_Mutation_p.R48I|BTBD3_uc002woa.2_Missense_Mutation_p.R48I|BTBD3_uc010zrf.1_5'UTR|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 109 ovary(2)|central_nervous_system(1) 3 ATTAGAGAGAGGTAAGTGCCG 0.448 6 93 --- --- --- --- PASS SEL1L2 80343 broad.mit.edu 37 20 13971175 13971175 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:13971175C>G uc010gcf.2 - 1 88 c.6G>C c.(4-6)AAG>AAC p.K2N SEL1L2_uc002woq.3_5'UTR|SEL1L2_uc010zrl.1_Missense_Mutation_p.K2N|SEL1L2_uc002wor.2_Intron NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 2 integral to membrane binding ovary(2) 2 GAGACAAGGGCTTCATCTTCT 0.433 18 35 --- --- --- --- PASS KIF16B 55614 broad.mit.edu 37 20 16360239 16360239 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:16360239C>T uc002wpg.1 - 19 2566 c.2408G>A c.(2407-2409)CGG>CAG p.R803Q KIF16B_uc002wpe.1_Missense_Mutation_p.R185Q|KIF16B_uc002wpf.1_Missense_Mutation_p.R185Q|KIF16B_uc010gch.1_Missense_Mutation_p.R803Q|KIF16B_uc010gci.1_Missense_Mutation_p.R803Q|KIF16B_uc010gcj.1_Missense_Mutation_p.R814Q NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 803 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.R803L(1) skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 CTCCTTCACCCGCAGGAGGGA 0.567 18 32 --- --- --- --- PASS CST7 8530 broad.mit.edu 37 20 24938088 24938088 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:24938088T>C uc002wtx.1 + 2 512 c.302T>C c.(301-303)CTA>CCA p.L101P NM_003650 NP_003641 O76096 CYTF_HUMAN cystatin F 79 immune response cytoplasm|extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 ACAAGGGCCCTAGTTCAGGTA 0.532 18 64 --- --- --- --- PASS SUN5 140732 broad.mit.edu 37 20 31573704 31573704 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:31573704G>T uc002wyi.2 - 11 828 c.735C>A c.(733-735)AAC>AAA p.N245K NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 245 SUN. spermatogenesis skin(1) 1 CAGGTGTCACGTTGGGCTAGA 0.517 5 46 --- --- --- --- PASS RBM12 10137 broad.mit.edu 37 20 34240640 34240640 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:34240640T>C uc002xdq.2 - 3 2837 c.2605A>G c.(2605-2607)ATT>GTT p.I869V CPNE1_uc010zvj.1_Intron|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.I869V|RBM12_uc002xds.2_Missense_Mutation_p.I869V NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 869 RRM 3. nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) ATCTCATCAATAGACACAGTA 0.393 42 39 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35443706 35443706 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:35443706G>A uc002xgd.1 - 5 1752 c.1425C>T c.(1423-1425)ATC>ATT p.I475I C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 475 0 Myeloproliferative disorder(115;0.00874) GGCGCACCAGGATGGCATGGA 0.627 16 52 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35443718 35443718 + Silent SNP G C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:35443718G>C uc002xgd.1 - 5 1740 c.1413C>G c.(1411-1413)CTC>CTG p.L471L C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 471 0 Myeloproliferative disorder(115;0.00874) TGGCATGGATGAGCTTGGTGT 0.637 11 45 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35444418 35444418 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:35444418G>A uc002xgd.1 - 5 1040 c.713C>T c.(712-714)GCT>GTT p.A238V C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 238 0 Myeloproliferative disorder(115;0.00874) GTCCATCTCAGCCCGCAGGCC 0.657 16 13 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37137763 37137763 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:37137763G>T uc002xiw.2 + 6 1041 c.784G>T c.(784-786)GTT>TTT p.V262F RALGAPB_uc010zvz.1_Missense_Mutation_p.V262F|RALGAPB_uc002xix.2_Missense_Mutation_p.V262F|RALGAPB_uc002xiy.1_Missense_Mutation_p.V262F|RALGAPB_uc002xiz.2_Missense_Mutation_p.V40F|RALGAPB_uc002xja.1_5'UTR NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 262 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TGCATTTAAAGTTCCCGATGA 0.373 68 70 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37146532 37146532 + Silent SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:37146532C>A uc002xiw.2 + 9 1563 c.1306C>A c.(1306-1308)CGG>AGG p.R436R RALGAPB_uc010zvz.1_Silent_p.R436R|RALGAPB_uc002xix.2_Silent_p.R436R|RALGAPB_uc002xiy.1_Silent_p.R436R|RALGAPB_uc002xiz.2_Silent_p.R214R|RALGAPB_uc002xja.1_Silent_p.R163R NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 436 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 GCCTGCCCCTCGGAGACCAAA 0.468 6 121 --- --- --- --- PASS KCNS1 3787 broad.mit.edu 37 20 43723776 43723776 + Nonsense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:43723776G>T uc002xnc.2 - 5 1713 c.1316C>A c.(1315-1317)TCA>TAA p.S439* KCNS1_uc002xnd.2_Nonsense_Mutation_p.S439* NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 439 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) GATGCAGCCTGAGGCTGCCAG 0.612 15 73 --- --- --- --- PASS MATN4 8785 broad.mit.edu 37 20 43933243 43933243 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:43933243C>A uc002xnn.2 - 3 455 c.268G>T c.(268-270)GCG>TCG p.A90S MATN4_uc002xno.2_Missense_Mutation_p.A90S|MATN4_uc002xnp.2_Missense_Mutation_p.A90S|MATN4_uc010zwr.1_Missense_Mutation_p.A38S|MATN4_uc002xnr.1_Missense_Mutation_p.A90S|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 90 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CGAGAGAACGCGCGGAGAGGG 0.647 6 35 --- --- --- --- PASS PIGT 51604 broad.mit.edu 37 20 44050036 44050036 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:44050036G>T uc002xoh.1 + 9 1120 c.1047G>T c.(1045-1047)GTG>GTT p.V349V PIGT_uc010ghd.1_Silent_p.V256V|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.V312V|PIGT_uc010ghf.1_Silent_p.V302V|PIGT_uc002xoj.1_Intron|PIGT_uc002xok.1_Silent_p.V314V|PIGT_uc010zwu.1_Silent_p.V87V|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Silent_p.V87V|PIGT_uc010zww.1_Silent_p.V293V|PIGT_uc010zwx.1_Silent_p.V184V|PIGT_uc010zwy.1_Silent_p.V247V|PIGT_uc010zwz.1_Silent_p.V87V|PIGT_uc010zxa.1_Silent_p.V187V|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Silent_p.V25V|PIGT_uc002xom.1_5'Flank NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 349 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CCCCCCCAGTGCCCTTCCTGC 0.587 6 30 --- --- --- --- PASS PLTP 5360 broad.mit.edu 37 20 44533736 44533736 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:44533736C>T uc002xqn.1 - 9 807 c.727G>A c.(727-729)GAG>AAG p.E243K PLTP_uc002xql.1_Missense_Mutation_p.E155K|PLTP_uc002xqm.1_Missense_Mutation_p.E263K|PLTP_uc002xqo.1_Missense_Mutation_p.E191K|PLTP_uc002xqp.1_Missense_Mutation_p.E243K|PLTP_uc002xqq.1_Missense_Mutation_p.E212K|PLTP_uc010zxj.1_Missense_Mutation_p.E148K|PLTP_uc010ghj.1_Missense_Mutation_p.E243K NM_006227 NP_006218 P55058 PLTP_HUMAN phospholipid transfer protein isoform a 243 cellular lipid metabolic process|lipid transport extracellular region lipid binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) CAGTTCCTCTCAGTCAGGGGG 0.632 10 57 --- --- --- --- PASS ZNF335 63925 broad.mit.edu 37 20 44581131 44581131 + Silent SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:44581131T>A uc002xqw.2 - 20 2967 c.2844A>T c.(2842-2844)CCA>CCT p.P948P ZNF335_uc002xqv.2_Silent_p.P60P|ZNF335_uc010zxk.1_Silent_p.P793P NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 948 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) CATCTGGACTTGGGAAGGAGA 0.627 90 56 --- --- --- --- PASS SNAI1 6615 broad.mit.edu 37 20 48600442 48600442 + Missense_Mutation SNP C T T rs137950928 TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:48600442C>T uc002xuz.2 + 2 234 c.164C>T c.(163-165)TCG>TTG p.S55L NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 55 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CCCACCGCCTCGCTGCCAATG 0.637 9 84 --- --- --- --- PASS TAF4 6874 broad.mit.edu 37 20 60572686 60572686 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:60572686C>G uc002ybs.2 - 14 3010 c.3010G>C c.(3010-3012)GCC>CCC p.A1004P NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 1004 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GTGAGGTTGGCGTCCCGCTGT 0.502 16 53 --- --- --- --- PASS TAF4 6874 broad.mit.edu 37 20 60589753 60589753 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr20:60589753G>T uc002ybs.2 - 2 1371 c.1371C>A c.(1369-1371)CTC>CTA p.L457L NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 457 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CACTTCGGACGAGGACCATTC 0.617 5 81 --- --- --- --- PASS CLDN17 26285 broad.mit.edu 37 21 31538660 31538660 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr21:31538660C>G uc011acv.1 - 1 276 c.276G>C c.(274-276)TTG>TTC p.L92F NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 92 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 GCAGGGCGATCAAGGAGAGAG 0.567 20 34 --- --- --- --- PASS SON 6651 broad.mit.edu 37 21 34921900 34921900 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr21:34921900G>T uc002yse.1 + 3 412 c.363G>T c.(361-363)AAG>AAT p.K121N SON_uc002ysb.1_Missense_Mutation_p.K121N|SON_uc002ysc.2_Missense_Mutation_p.K121N|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 121 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 agaagaaaaagaagaaagaaa 0.279 OREG0003562 type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 10 19 --- --- --- --- PASS RIPK4 54101 broad.mit.edu 37 21 43161628 43161628 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr21:43161628G>A uc002yzn.1 - 8 1773 c.1725C>T c.(1723-1725)CAC>CAT p.H575H NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 575 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 AGGCAGCGTAGTGCAGTGGCA 0.672 12 19 --- --- --- --- PASS DGCR8 54487 broad.mit.edu 37 22 20094896 20094896 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr22:20094896G>T uc002zri.2 + 12 2449 c.2099G>T c.(2098-2100)CGT>CTT p.R700L DGCR8_uc010grz.2_Missense_Mutation_p.R667L|DGCR8_uc002zrj.2_Missense_Mutation_p.R343L NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN DiGeorge syndrome critical region gene 8 700 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding 0 Colorectal(54;0.0993) ATGTATGGCCGTGAGAGCAGC 0.552 15 44 --- --- --- --- PASS HPS4 89781 broad.mit.edu 37 22 26860753 26860753 + Silent SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr22:26860753G>A uc003acl.2 - 11 1502 c.843C>T c.(841-843)GCC>GCT p.A281A HPS4_uc003aci.2_Silent_p.A276A|HPS4_uc003acj.2_Silent_p.A145A|HPS4_uc003ack.2_Silent_p.A72A|HPS4_uc003acn.2_Silent_p.A127A|HPS4_uc010gvd.1_Silent_p.A299A|HPS4_uc003ach.2_Silent_p.A16A NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 281 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 GATGGTGCTGGGCTGAACCAT 0.572 Hermansky-Pudlak_syndrome 13 31 --- --- --- --- PASS C22orf42 150297 broad.mit.edu 37 22 32555004 32555004 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr22:32555004G>T uc003amd.2 - 1 240 c.199C>A c.(199-201)CCG>ACG p.P67T NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 67 ovary(1)|skin(1) 2 GGCGTCTTCGGGAGGCTGAGG 0.552 7 205 --- --- --- --- PASS EP300 2033 broad.mit.edu 37 22 41565505 41565505 + Splice_Site SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr22:41565505A>G uc003azl.3 + 26 4568 c.4173_splice c.e26-2 p.R1391_splice NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CATTTTGTATAGGAGAGTATA 0.373 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 22 27 --- --- --- --- PASS PRR5 55615 broad.mit.edu 37 22 45133115 45133115 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr22:45133115G>T uc003bfb.1 + 8 1427 c.1155G>T c.(1153-1155)CAG>CAT p.Q385H PRR5_uc003bew.1_Missense_Mutation_p.Q376H|PRR5_uc003bex.1_Missense_Mutation_p.Q290H|PRR5_uc010gzt.1_Missense_Mutation_p.Q408H|PRR5_uc010gzu.1_Missense_Mutation_p.Q349H|PRR5_uc003bey.1_Missense_Mutation_p.Q376H|PRR5_uc003bez.1_Missense_Mutation_p.Q290H|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.Q278H|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.Q284H NM_181333 NP_851850 P85299 PRR5_HUMAN proline rich 5 (renal) isoform 1 385 cell cycle skin(1) 1 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) GGGGCCGGCAGAGTGTCGTGT 0.587 10 20 --- --- --- --- PASS KAL1 3730 broad.mit.edu 37 X 8503661 8503661 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:8503661T>A uc004csf.2 - 12 1963 c.1813A>T c.(1813-1815)ATT>TTT p.I605F NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 605 Fibronectin type-III 4. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 TGTGAAATAATGCTGTTGGGT 0.493 17 16 --- --- --- --- PASS GEMIN8 54960 broad.mit.edu 37 X 14027118 14027118 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:14027118T>C uc004cwb.2 - 5 986 c.643A>G c.(643-645)ATG>GTG p.M215V GEMIN8_uc004cwc.2_Missense_Mutation_p.M215V|GEMIN8_uc004cwd.2_Missense_Mutation_p.M215V NM_017856 NP_060326 Q9NWZ8 GEMI8_HUMAN gem (nuclear organelle) associated protein 8 215 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding 0 GCGGCCTCCATGGCTTGGATC 0.627 18 22 --- --- --- --- PASS BEND2 139105 broad.mit.edu 37 X 18189144 18189144 + Missense_Mutation SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:18189144G>T uc004cyj.3 - 13 2316 c.2162C>A c.(2161-2163)CCC>CAC p.P721H BEND2_uc010nfb.2_Missense_Mutation_p.P630H NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 721 BEN 2. ovary(3)|kidney(1)|central_nervous_system(1) 5 AATCTTATTGGGGTCAAGGGC 0.408 58 32 --- --- --- --- PASS GPR64 10149 broad.mit.edu 37 X 19021038 19021038 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:19021038A>G uc004cyx.2 - 24 2320 c.2156T>C c.(2155-2157)ATG>ACG p.M719T GPR64_uc004cyy.2_Missense_Mutation_p.M716T|GPR64_uc004cyz.2_Missense_Mutation_p.M705T|GPR64_uc004czb.2_Missense_Mutation_p.M719T|GPR64_uc004czc.2_Missense_Mutation_p.M703T|GPR64_uc004czd.2_Missense_Mutation_p.M695T|GPR64_uc004cze.2_Missense_Mutation_p.M689T|GPR64_uc004czf.2_Missense_Mutation_p.M681T|GPR64_uc004cza.2_Missense_Mutation_p.M697T|GPR64_uc004cyw.2_Missense_Mutation_p.M703T|GPR64_uc010nfj.2_Missense_Mutation_p.M600T NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 719 Cytoplasmic (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) GGCCAGGTACATATGGAATGC 0.413 45 19 --- --- --- --- PASS PPP1R3F 89801 broad.mit.edu 37 X 49143531 49143531 + Silent SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:49143531C>G uc004dnh.1 + 4 2395 c.2379C>G c.(2377-2379)CTC>CTG p.L793L PPP1R3F_uc011mnd.1_Silent_p.L464L|PPP1R3F_uc004dni.2_Silent_p.L447L|PPP1R3F_uc004dnj.1_Silent_p.L447L NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 793 Cytoplasmic (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) CGCTGTGCCTCTCTCTGGCTT 0.612 12 8 --- --- --- --- PASS UBQLN2 29978 broad.mit.edu 37 X 56591546 56591546 + Missense_Mutation SNP C T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:56591546C>T uc004dus.2 + 1 1475 c.1240C>T c.(1240-1242)CCG>TCG p.P414S UBQLN2_uc011moq.1_Missense_Mutation_p.P414S NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 414 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 GCTGAATAGCCCGCTGTTTAC 0.537 8 9 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75649174 75649174 + Missense_Mutation SNP T C C TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:75649174T>C uc004ecm.1 + 1 1058 c.851T>C c.(850-852)TTG>TCG p.L284S NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 284 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 AGCATCTCCTTGGTGCCCACC 0.692 8 9 --- --- --- --- PASS NAP1L3 4675 broad.mit.edu 37 X 92927345 92927345 + Missense_Mutation SNP T A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:92927345T>A uc004efq.2 - 1 1264 c.959A>T c.(958-960)AAG>ATG p.K320M FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 320 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 GTCAACATTCTTTAAAACAAT 0.438 17 17 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105075047 105075047 + Missense_Mutation SNP G A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:105075047G>A uc004emd.2 + 2 361 c.58G>A c.(58-60)GAT>AAT p.D20N NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 20 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TTTTTTGCAGGATCCAACTGG 0.249 HNSCC(51;0.14) 12 7 --- --- --- --- PASS XPNPEP2 7512 broad.mit.edu 37 X 128902323 128902323 + Silent SNP G T T TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:128902323G>T uc004eut.1 + 21 2131 c.1887G>T c.(1885-1887)CTG>CTT p.L629L NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 629 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 GTCCAGAGCTGCAGAGGCGCC 0.612 16 9 --- --- --- --- PASS CXorf66 347487 broad.mit.edu 37 X 139038193 139038193 + Missense_Mutation SNP C A A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:139038193C>A uc004fbb.2 - 3 970 c.948G>T c.(946-948)AGG>AGT p.R316S NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 316 Cytoplasmic (Potential). integral to membrane 0 ATGCATTGTTCCTGGAATCTA 0.378 34 25 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140995703 140995703 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:140995703C>G uc004fbt.2 + 4 2799 c.2513C>G c.(2512-2514)ACT>AGT p.T838S MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 838 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCCTCCTCCACTTCATCGAGT 0.552 HNSCC(15;0.026) 44 53 --- --- --- --- PASS BGN 633 broad.mit.edu 37 X 152773715 152773715 + Missense_Mutation SNP C G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:152773715C>G uc004fhr.1 + 8 1091 c.919C>G c.(919-921)CTG>GTG p.L307V BGN_uc004fhq.1_RNA NM_001711 NP_001702 P21810 PGS1_HUMAN biglycan preproprotein 307 LRR 10. proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTGGTCTATCTGCACTCCAA 0.597 67 33 --- --- --- --- PASS USP9Y 8287 broad.mit.edu 37 Y 14888737 14888737 + Missense_Mutation SNP A G G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrY:14888737A>G uc004fst.1 + 19 3527 c.2582A>G c.(2581-2583)TAC>TGC p.Y861C USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 861 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 ATAAAAGAGTACATTAATGAA 0.323 14 18 --- --- --- --- PASS TET3 200424 broad.mit.edu 37 2 74328275 74328275 + Frame_Shift_Del DEL G - - TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr2:74328275delG uc002skb.3 + 9 3955 c.3955delG c.(3955-3957)GGCfs p.G1319fs NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 1319 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CGGTGTGGGTGGCAGCTGGGG 0.602 26 22 --- --- --- --- Unknown 0 broad.mit.edu 37 4 110268685 110268685 + RNA DEL G - - TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:110268685delG uc003hzi.1 - 8 c.1379delC Homo sapiens cDNA FLJ25407 fis, clone TST02904. CTTGCCGACAGGGGCTTCCTA 0.507 6 3 --- --- --- --- Unknown 0 broad.mit.edu 37 4 189459065 189459065 + RNA DEL T - - TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr4:189459065delT uc003izp.1 + 6 c.1791delT Homo sapiens cDNA FLJ38649 fis, clone HHDPC2007302. CCCTGTATGGTTTTTTTTTTT 0.383 4 2 --- --- --- --- PPP2R5D 5528 broad.mit.edu 37 6 42974327 42974327 + Frame_Shift_Del DEL C - - TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr6:42974327delC uc003oth.2 + 3 318 c.232delC c.(232-234)CCCfs p.P78fs MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Frame_Shift_Del_p.P78fs|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR NM_006245 NP_006236 Q14738 2A5D_HUMAN delta isoform of regulatory subunit B56, protein 78 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(1)|central_nervous_system(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CTCAGGGGGGCCCCAGATTGT 0.512 34 31 --- --- --- --- MAPK15 225689 broad.mit.edu 37 8 144802438 144802438 + Frame_Shift_Del DEL C - - TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr8:144802438delC uc003yzj.2 + 8 801 c.760delC c.(760-762)CTGfs p.L254fs NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 254 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGCCTCTGTGCTGCACCAGCT 0.672 11 5 --- --- --- --- GARNL3 84253 broad.mit.edu 37 9 130104531 130104533 + In_Frame_Del DEL CAA - - TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr9:130104531_130104533delCAA uc011mae.1 + 14 1570_1572 c.1169_1171delCAA c.(1168-1173)CCAACA>CCA p.T391del GARNL3_uc011mad.1_In_Frame_Del_p.T369del|GARNL3_uc004bqt.1_In_Frame_Del_p.T172del NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 391 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TTGGAAACCCCAACATTTGCCCA 0.379 35 24 --- --- --- --- Unknown 0 broad.mit.edu 37 13 21906560 21906560 + RNA DEL T - - TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr13:21906560delT uc001unz.1 + 3 c.2089delT Homo sapiens cDNA FLJ33446 fis, clone BRAMY1000095. ATTAAAGTTGTTTCTTTGTCA 0.428 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 14 73079701 73079702 + RNA INS - GT GT rs143434829 by1000genomes TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr14:73079701_73079702insGT uc010arh.1 - 1 c.102_103insAC Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4. TTAAGTAGGGCgtgtgtgtgtg 0.381 4 2 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55361548 55361548 + Frame_Shift_Del DEL G - - TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chr16:55361548delG uc002ehy.2 + 4 997 c.464delG c.(463-465)CGGfs p.R155fs IRX6_uc002ehx.2_Frame_Shift_Del_p.R155fs|IRX6_uc010ccb.1_RNA NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 155 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 AACGCGACCCGGGAGACCACC 0.562 14 12 --- --- --- --- CXorf1 9142 broad.mit.edu 37 X 144909203 144909203 + Frame_Shift_Del DEL C - - TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c75ed357-d845-4443-8c9e-a2afa8ed30df 3d42a627-7d26-47b1-865b-99aa0339cf42 g.chrX:144909203delC uc004fch.2 + 1 276 c.8delC c.(7-9)TCCfs p.S3fs NM_004709 NP_004700 O96002 CX001_HUMAN hypothetical protein LOC9142 3 0 Acute lymphoblastic leukemia(192;6.56e-05) TGAATGTATTCCAGACTATTT 0.244 6 4 --- --- --- ---