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 SLC35E2 9906 broad.mit.edu 37 1 1666131 1666131 + Nonsense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:1666131G>A uc001aib.1 - 5 1146 c.730C>T c.(730-732)CAG>TAG p.Q244* SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|SLC35E2_uc001ahy.2_Nonsense_Mutation_p.Q244*|SLC35E2_uc001ahz.2_Nonsense_Mutation_p.Q244* NM_182838 NP_878258 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 244 integral to membrane pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGCTCACCTGAAAGTCACCG 0.507 9 41 --- --- --- --- PASS DNAJC11 55735 broad.mit.edu 37 1 6700080 6700080 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:6700080G>A uc001aof.2 - 11 1241 c.1135C>T c.(1135-1137)CAC>TAC p.H379Y DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Intron|DNAJC11_uc010nzu.1_Missense_Mutation_p.H289Y NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 379 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCCGTCAAGTGAATAGGGAAG 0.478 9 32 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10342554 10342554 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:10342554C>G uc001aqx.3 + 15 1599 c.1397C>G c.(1396-1398)TCT>TGT p.S466C KIF1B_uc001aqv.3_Missense_Mutation_p.S420C|KIF1B_uc001aqw.3_Missense_Mutation_p.S420C|KIF1B_uc001aqy.2_Missense_Mutation_p.S440C|KIF1B_uc001aqz.2_Missense_Mutation_p.S466C|KIF1B_uc001ara.2_Missense_Mutation_p.S426C|KIF1B_uc001arb.2_Missense_Mutation_p.S452C NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 466 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AGGATCATGTCTACACCTGGA 0.393 29 81 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10380147 10380147 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:10380147G>A uc001aqx.3 + 23 2364 c.2162G>A c.(2161-2163)CGA>CAA p.R721Q KIF1B_uc001aqw.3_Missense_Mutation_p.R675Q|KIF1B_uc001aqy.2_Missense_Mutation_p.R695Q|KIF1B_uc001aqz.2_Missense_Mutation_p.R721Q|KIF1B_uc001ara.2_Missense_Mutation_p.R681Q|KIF1B_uc001arb.2_Missense_Mutation_p.R707Q NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 721 Potential. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GTTGAAACCCGATCTCTGGCT 0.313 6 21 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19494528 19494528 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:19494528G>C uc001bbi.2 - 28 3896 c.3892C>G c.(3892-3894)CTT>GTT p.L1298V UBR4_uc001bbm.1_Missense_Mutation_p.L509V NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1298 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TACACAATAAGATCTCCAGTC 0.478 26 69 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22202777 22202777 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:22202777C>G uc001bfj.2 - 23 2988 c.2948G>C c.(2947-2949)AGA>ACA p.R983T HSPG2_uc009vqd.2_Missense_Mutation_p.R984T NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 983 Laminin IV type A 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGATAAGAGTCTGTGGAAGGA 0.428 19 31 --- --- --- --- PASS RHD 6007 broad.mit.edu 37 1 25617255 25617255 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:25617255G>A uc001bjz.2 + 3 517 c.459G>A c.(457-459)CTG>CTA p.L153L RHD_uc010oep.1_Silent_p.L153L|RHD_uc001bkc.2_Silent_p.L153L|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Silent_p.L153L|RHD_uc001bkb.2_Silent_p.L153L|RHD_uc009vrn.2_Silent_p.L153L|RHD_uc009vro.2_Silent_p.L153L|RHD_uc009vrp.2_Silent_p.L153L NM_016124 NP_057208 Q02161 RHD_HUMAN Rh blood group D antigen isoform 1 153 integral to plasma membrane breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TAGGCAACCTGAGGATGGTCA 0.537 35 40 --- --- --- --- PASS MYCL1 4610 broad.mit.edu 37 1 40363471 40363471 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:40363471C>A uc001cer.1 - 3 885 c.668G>T c.(667-669)TGC>TTC p.C223F MYCL1_uc001ces.1_Missense_Mutation_p.C223F NM_001033082 NP_001028254 P12524 MYCL1_HUMAN l-myc-1 proto-oncogene isoform 1 223 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|liver(1) 2 all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTCTTGGGAGCAGCTTTCTGG 0.532 A small cell lung 4 182 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66036310 66036310 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:66036310G>C uc001dci.2 + 4 397 c.195G>C c.(193-195)GAG>GAC p.E65D LEPR_uc001dcg.2_Missense_Mutation_p.E65D|LEPR_uc001dch.2_Missense_Mutation_p.E65D|LEPR_uc009waq.2_Missense_Mutation_p.E65D|LEPR_uc001dcj.2_Missense_Mutation_p.E65D|LEPR_uc001dck.2_Missense_Mutation_p.E65D NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 65 Extracellular (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) GACATTATGAGACAGCTGTTG 0.378 14 62 --- --- --- --- PASS C1orf141 400757 broad.mit.edu 37 1 67558694 67558694 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:67558694G>A uc001ddl.1 - 7 1308 c.1197C>T c.(1195-1197)GCC>GCT p.A399A C1orf141_uc001ddm.1_Silent_p.A399A|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 399 ovary(1) 1 TATTTTATGAGGCATTTAAAA 0.249 4 18 --- --- --- --- PASS GBP7 388646 broad.mit.edu 37 1 89615179 89615179 + Silent SNP T A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:89615179T>A uc001dna.2 - 7 1087 c.948A>T c.(946-948)GCA>GCT p.A316A GBP2_uc001dmy.1_RNA NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 316 integral to membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GGGCCAGAACTGCCATTGCAT 0.557 15 52 --- --- --- --- PASS LPPR5 163404 broad.mit.edu 37 1 99418658 99418658 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:99418658C>A uc001dsb.2 - 3 811 c.589G>T c.(589-591)GCT>TCT p.A197S LPPR5_uc001dsc.2_Missense_Mutation_p.A197S NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 197 Helical; (Potential). integral to membrane hydrolase activity 0 ACACTGAGAGCTGCTTCTTTG 0.393 14 61 --- --- --- --- PASS SARS 6301 broad.mit.edu 37 1 109756748 109756748 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:109756748G>A uc001dwu.1 + 1 209 c.134G>A c.(133-135)CGA>CAA p.R45Q SARS_uc001dwt.1_Missense_Mutation_p.R45Q|SARS_uc001dwv.1_Missense_Mutation_p.R45Q|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.R45Q|SARS_uc009wfa.1_Missense_Mutation_p.R45Q|SARS_uc001dwy.1_5'UTR NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 45 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) GAGTGGCGACGATGTAAGTAC 0.592 6 75 --- --- --- --- PASS GNAT2 2780 broad.mit.edu 37 1 110148995 110148995 + Silent SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:110148995G>C uc001dya.2 - 5 738 c.525C>G c.(523-525)CTC>CTG p.L175L NM_005272 NP_005263 P19087 GNAT2_HUMAN guanine nucleotide binding protein, alpha 175 GTP (By similarity). detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) CTCTGGATCGGAGCACATCTT 0.428 30 80 --- --- --- --- PASS SLC16A4 9122 broad.mit.edu 37 1 110921905 110921905 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:110921905G>C uc001dzo.1 - 6 782 c.600C>G c.(598-600)ATC>ATG p.I200M SLC16A4_uc009wfs.1_Missense_Mutation_p.I152M|SLC16A4_uc001dzp.1_Intron|SLC16A4_uc010ovy.1_Missense_Mutation_p.I138M|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Missense_Mutation_p.I90M NM_004696 NP_004687 O15374 MOT5_HUMAN solute carrier family 16, member 4 200 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity ovary(3) 3 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) TCTCACTTTTGATATGGATGG 0.408 11 53 --- --- --- --- PASS MCL1 4170 broad.mit.edu 37 1 150551448 150551448 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:150551448G>A uc001euz.2 - 1 689 c.559C>T c.(559-561)CGG>TGG p.R187W MCL1_uc010pch.1_Missense_Mutation_p.R77W|MCL1_uc001eva.2_Missense_Mutation_p.R187W NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 187 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCCTGCTCCCGAAGGTACCGA 0.647 15 121 --- --- --- --- PASS CRNN 49860 broad.mit.edu 37 1 152382343 152382343 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:152382343C>T uc001ezx.2 - 3 1289 c.1215G>A c.(1213-1215)CAG>CAA p.Q405Q NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 405 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTGCCCCAGTCTGGGCCTGTC 0.607 25 82 --- --- --- --- PASS PKLR 5313 broad.mit.edu 37 1 155263135 155263135 + Splice_Site SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:155263135C>T uc001fkb.3 - 9 1309 c.1270_splice c.e9-1 p.I424_splice RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Splice_Site_p.I393_splice NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CCCGGGCAATCTGCAGGTGCC 0.597 31 101 --- --- --- --- PASS PKLR 5313 broad.mit.edu 37 1 155264083 155264083 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:155264083C>G uc001fkb.3 - 7 1098 c.1059G>C c.(1057-1059)CAG>CAC p.Q353H RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.Q322H NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 353 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) TCATCATCTTCTGAGCCAGGA 0.567 21 55 --- --- --- --- PASS RIT1 6016 broad.mit.edu 37 1 155874207 155874207 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:155874207G>T uc001fmh.1 - 5 511 c.324C>A c.(322-324)TTC>TTA p.F108L RIT1_uc010pgr.1_Missense_Mutation_p.F72L NM_006912 NP_008843 Q92963 RIT1_HUMAN Ras-like without CAAX 1 108 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) GAACTTCATGGAAACTTCGAC 0.453 16 52 --- --- --- --- PASS DNM3 26052 broad.mit.edu 37 1 172011204 172011204 + Nonsense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:172011204C>T uc001gie.2 + 8 1224 c.1048C>T c.(1048-1050)CAA>TAA p.Q350* DNM3_uc001gid.3_Nonsense_Mutation_p.Q350*|DNM3_uc009wwb.2_Nonsense_Mutation_p.Q350*|DNM3_uc001gif.2_Nonsense_Mutation_p.Q350* NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 350 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 GTCAGGGGATCAAGTAGATAC 0.378 11 39 --- --- --- --- PASS DARS2 55157 broad.mit.edu 37 1 173826783 173826783 + Silent SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:173826783G>C uc001gjh.1 + 17 2288 c.1878G>C c.(1876-1878)CTG>CTC p.L626L NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 626 L -> Q (in LBSL).|L -> V (in LBSL). tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) CTGAGGAACTGAAGCCCTATC 0.478 13 54 --- --- --- --- PASS TSEN15 116461 broad.mit.edu 37 1 184023991 184023991 + Missense_Mutation SNP A G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:184023991A>G uc001gqt.3 + 3 426 c.347A>G c.(346-348)CAT>CGT p.H116R TSEN15_uc009wyg.2_RNA|TSEN15_uc001gqu.3_Missense_Mutation_p.H116R NM_052965 NP_443197 Q8WW01 SEN15_HUMAN tRNA splicing endonuclease 15 isoform 1 116 mRNA processing|tRNA processing nucleolus protein binding 0 TCCCTCAGCCATAACAGGTGA 0.448 3 10 --- --- --- --- PASS DDX59 83479 broad.mit.edu 37 1 200635181 200635181 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:200635181G>C uc009wzk.2 - 2 931 c.688C>G c.(688-690)CAA>GAA p.Q230E DDX59_uc010ppl.1_Missense_Mutation_p.Q230E NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 230 Q motif. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 ATCTGCATTTGAATGGGAGTT 0.443 42 140 --- --- --- --- PASS DDX59 83479 broad.mit.edu 37 1 200635425 200635425 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:200635425G>A uc009wzk.2 - 2 687 c.444C>T c.(442-444)CTC>CTT p.L148L DDX59_uc010ppl.1_Silent_p.L148L NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 148 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 GTGGATTGCTGAGTTTTGATT 0.408 19 66 --- --- --- --- PASS DDX59 83479 broad.mit.edu 37 1 200635460 200635460 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:200635460G>T uc009wzk.2 - 2 652 c.409C>A c.(409-411)CTA>ATA p.L137I DDX59_uc010ppl.1_Missense_Mutation_p.L137I NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 137 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 TTAACTTGTAGAAGATGTTTC 0.418 25 70 --- --- --- --- PASS PTPN14 5784 broad.mit.edu 37 1 214531328 214531328 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:214531328G>A uc001hkk.1 - 19 3772 c.3501C>T c.(3499-3501)ATC>ATT p.I1167I NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 1167 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGTACTGAGCGATAGTCTGGA 0.507 12 38 --- --- --- --- PASS TARBP1 6894 broad.mit.edu 37 1 234569206 234569206 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:234569206G>C uc001hwd.2 - 14 2344 c.2344C>G c.(2344-2346)CTT>GTT p.L782V NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 782 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TTTTTCAAAAGAGAAATAACT 0.398 12 50 --- --- --- --- PASS TARBP1 6894 broad.mit.edu 37 1 234569302 234569302 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:234569302G>T uc001hwd.2 - 14 2248 c.2248C>A c.(2248-2250)CGT>AGT p.R750S NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 750 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AAATGGCAACGATCCAGATCT 0.393 16 61 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235945292 235945292 + Nonsense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:235945292G>T uc001hxj.2 - 15 5133 c.4958C>A c.(4957-4959)TCA>TAA p.S1653* LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1653 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTCTTGGGATGATAAACAATG 0.299 Chediak-Higashi_syndrome 17 39 --- --- --- --- PASS NID1 4811 broad.mit.edu 37 1 236208960 236208960 + Silent SNP T C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:236208960T>C uc001hxo.2 - 3 651 c.549A>G c.(547-549)CTA>CTG p.L183L NID1_uc009xgd.2_Silent_p.L183L NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 183 NIDO. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CAGAGGAGGCTAGAACAGCCT 0.403 7 19 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237659980 237659980 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:237659980G>A uc001hyl.1 + 20 2251 c.2131G>A c.(2131-2133)GAA>AAA p.E711K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 711 Cytoplasmic (By similarity).|B30.2/SPRY 1. 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) TGGAGGGGGCGAAGAGTGGGG 0.522 44 72 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240370862 240370862 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:240370862G>A uc010pyd.1 + 5 2975 c.2750G>A c.(2749-2751)GGA>GAA p.G917E FMN2_uc010pye.1_Missense_Mutation_p.G921E NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 917 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCTCTTCCCGGAGCGGGCATA 0.657 50 110 --- --- --- --- PASS SCCPDH 51097 broad.mit.edu 37 1 246923314 246923314 + Missense_Mutation SNP T A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr1:246923314T>A uc001ibr.2 + 8 1216 c.869T>A c.(868-870)ATG>AAG p.M290K NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 290 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ovary(1) 1 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) ATTAAGCTGATGTTTGCAGGA 0.343 17 89 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1796159 1796159 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:1796159G>A uc002qxe.2 - 24 4181 c.3354C>T c.(3352-3354)CTC>CTT p.L1118L MYT1L_uc002qxd.2_Silent_p.L1116L|MYT1L_uc010ewk.2_Silent_p.L116L NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1118 Potential. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCAGCTCGTGGAGGAGAGACT 0.537 8 10 --- --- --- --- PASS DPYSL5 56896 broad.mit.edu 37 2 27147901 27147901 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:27147901G>T uc002rhu.3 + 3 566 c.408G>T c.(406-408)TGG>TGT p.W136C DPYSL5_uc002rhv.3_Missense_Mutation_p.W136C NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 136 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGATCACCTGGTGGGCACCCA 0.602 9 40 --- --- --- --- PASS SLC30A3 7781 broad.mit.edu 37 2 27479355 27479355 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:27479355C>T uc002rjk.2 - 7 1103 c.917G>A c.(916-918)CGG>CAG p.R306Q SLC30A3_uc002rjj.2_Missense_Mutation_p.G152R|SLC30A3_uc010ylh.1_Missense_Mutation_p.R301Q NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 306 Cytoplasmic (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCGTATCCCGCACAGGTTC 0.617 20 67 --- --- --- --- PASS MCFD2 90411 broad.mit.edu 37 2 47135052 47135052 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:47135052G>A uc002rvk.2 - 3 300 c.206C>T c.(205-207)CCA>CTA p.P69L MCFD2_uc002rvl.2_Missense_Mutation_p.P17L|MCFD2_uc010fba.2_Missense_Mutation_p.P67L|MCFD2_uc010yof.1_Missense_Mutation_p.P50L NM_139279 NP_644808 Q8NI22 MCFD2_HUMAN multiple coagulation factor deficiency 2 69 EF-hand 1. post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus calcium ion binding central_nervous_system(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Antihemophilic Factor(DB00025) CAATTCTTGTGGCGACATCTC 0.433 16 50 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49381409 49381409 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:49381409C>T uc002rww.2 - 1 222 c.148G>A c.(148-150)GAA>AAA p.E50K FSHR_uc002rwx.2_Missense_Mutation_p.E50K|FSHR_uc010fbn.2_Missense_Mutation_p.E50K|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 50 Extracellular (Potential).|LRR 1. female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ACTCACAGTTCAATGGCATTC 0.453 Gonadal_Dysgenesis_46_XX 4 26 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73682351 73682351 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:73682351G>A uc002sje.1 + 11 7717 c.7606G>A c.(7606-7608)GAT>AAT p.D2536N ALMS1_uc002sjf.1_Missense_Mutation_p.D2492N|ALMS1_uc002sjg.2_Missense_Mutation_p.D1922N|ALMS1_uc002sjh.1_Missense_Mutation_p.D1922N NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2534 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ATTAAATGAAGATGACAGGAG 0.363 19 71 --- --- --- --- PASS RTKN 6242 broad.mit.edu 37 2 74653636 74653636 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:74653636G>A uc002sle.2 - 12 1543 c.1426C>T c.(1426-1428)CTG>TTG p.L476L RTKN_uc002slc.2_Silent_p.L463L|RTKN_uc002sld.2_Silent_p.L426L NM_001015055 NP_001015055 Q9BST9 RTKN_HUMAN rhotekin isoform a 476 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity skin(1) 1 GGTGTCTCCAGCCTTGCGCCC 0.657 20 79 --- --- --- --- PASS IL1RL1 9173 broad.mit.edu 37 2 102959613 102959613 + Missense_Mutation SNP A T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:102959613A>T uc002tbu.1 + 7 1071 c.800A>T c.(799-801)CAA>CTA p.Q267L IL1RL1_uc010ywa.1_Missense_Mutation_p.Q150L|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.Q267L NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 267 Extracellular (Potential).|Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 CCAAGAATTCAACAAGAGGAA 0.413 25 65 --- --- --- --- PASS GPR45 11250 broad.mit.edu 37 2 105858475 105858475 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:105858475G>A uc002tco.1 + 1 276 c.160G>A c.(160-162)GTG>ATG p.V54M NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 54 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 GGGCAACACTGTGGTCTGCAT 0.627 6 226 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109383853 109383853 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:109383853G>A uc002tem.3 + 20 6984 c.6858G>A c.(6856-6858)CAG>CAA p.Q2286Q NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2286 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AGTTGAATCAGAGTGGGACTT 0.393 28 107 --- --- --- --- PASS BUB1 699 broad.mit.edu 37 2 111428129 111428129 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:111428129G>A uc002tgc.2 - 5 551 c.439C>T c.(439-441)CTC>TTC p.L147F BUB1_uc010yxh.1_Missense_Mutation_p.L127F|BUB1_uc010fkb.2_Missense_Mutation_p.L147F|BUB1_uc002tgd.2_Missense_Mutation_p.L147F NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 147 BUB1 N-terminal. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GTTTCAGTGAGGCGTGTCTGA 0.353 20 92 --- --- --- --- PASS FOXD4L1 200350 broad.mit.edu 37 2 114257217 114257217 + Silent SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:114257217C>G uc002tjw.3 + 1 557 c.384C>G c.(382-384)CTC>CTG p.L128L NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 128 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 ACAAGCGCCTCACGCTCAGCG 0.647 26 341 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137917884 137917884 + Missense_Mutation SNP T G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:137917884T>G uc002tva.1 + 5 1378 c.1378T>G c.(1378-1380)TCA>GCA p.S460A THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.S350A NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) ATCTTCCTGGTCAGCCTGGGG 0.517 13 54 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 137917917 137917917 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:137917917C>G uc002tva.1 + 5 1411 c.1411C>G c.(1411-1413)CAT>GAT p.H471D THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.H361D NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TGAAAACTGTCATGATCCTCA 0.498 4 46 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141457836 141457836 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:141457836C>G uc002tvj.1 - 41 7754 c.6782G>C c.(6781-6783)AGA>ACA p.R2261T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2261 Extracellular (Potential).|LDL-receptor class B 23. 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) AATTACTTGTCTGTCTTCCCA 0.308 TSP Lung(27;0.18) 12 34 --- --- --- --- PASS RIF1 55183 broad.mit.edu 37 2 152319636 152319636 + Nonsense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:152319636C>G uc002txm.2 + 30 3732 c.3602C>G c.(3601-3603)TCA>TGA p.S1201* RIF1_uc002txl.2_Nonsense_Mutation_p.S1201*|RIF1_uc002txn.2_Nonsense_Mutation_p.S1201*|RIF1_uc002txo.2_Nonsense_Mutation_p.S1201*|RIF1_uc002txp.2_RNA NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 1201 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) AGCAGTAGTTCAGTTTCTAAT 0.363 3 72 --- --- --- --- PASS NR4A2 4929 broad.mit.edu 37 2 157186333 157186333 + Nonsense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:157186333G>T uc002tyz.3 - 3 788 c.366C>A c.(364-366)TAC>TAA p.Y122* NR4A2_uc002tyx.3_Nonsense_Mutation_p.Y59*|NR4A2_uc010zcf.1_Nonsense_Mutation_p.Y122*|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 122 Gln-rich. 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 AGGAGGGCTTGTAGTAAACCG 0.607 6 196 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 165987921 165987921 + Missense_Mutation SNP T G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:165987921T>G uc002ucx.2 - 16 2890 c.2398A>C c.(2398-2400)ACT>CCT p.T800P SCN3A_uc002ucy.2_Missense_Mutation_p.T751P|SCN3A_uc002ucz.2_Missense_Mutation_p.T751P|SCN3A_uc002uda.1_Missense_Mutation_p.T620P|SCN3A_uc002udb.1_Missense_Mutation_p.T620P NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 800 Helical; Name=S2 of repeat II; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) AAAATCCCAGTAAAGACCTAA 0.338 3 52 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179576712 179576712 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:179576712C>A uc010zfg.1 - 93 24337 c.24113G>T c.(24112-24114)AGC>ATC p.S8038I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4699I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8965 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) TTCTCCCACGCTGTTTTCAGC 0.333 5 36 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185800831 185800831 + Nonsense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:185800831C>A uc002uph.2 + 4 1302 c.708C>A c.(706-708)TAC>TAA p.Y236* NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 236 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TCTCTGAATACAGTGATGATG 0.443 28 75 --- --- --- --- PASS CCDC150 284992 broad.mit.edu 37 2 197521510 197521510 + Silent SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:197521510C>G uc002utp.1 + 3 465 c.330C>G c.(328-330)CTC>CTG p.L110L CCDC150_uc002uto.1_Silent_p.L110L|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 110 Potential. 0 TTGAAAGCCTCATGCAGTCCT 0.383 8 25 --- --- --- --- PASS SGOL2 151246 broad.mit.edu 37 2 201437262 201437262 + Missense_Mutation SNP T G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:201437262T>G uc002uvw.2 + 7 2306 c.2193T>G c.(2191-2193)AAT>AAG p.N731K SGOL2_uc010zhd.1_Missense_Mutation_p.N731K|SGOL2_uc010zhe.1_Missense_Mutation_p.N731K NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 731 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 ATTTAGATAATGACAAAAGTA 0.338 9 27 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201477490 201477490 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:201477490G>C uc002uvx.2 + 14 1523 c.1422G>C c.(1420-1422)AAG>AAC p.K474N AOX1_uc010zhf.1_Missense_Mutation_p.K30N|AOX1_uc010fsu.2_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 474 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TCTGTGCCAAGAATTCCTGCC 0.443 5 25 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209190867 209190867 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:209190867C>G uc002vcz.2 + 20 3490 c.3332C>G c.(3331-3333)TCT>TGT p.S1111C PIKFYVE_uc010fun.1_Missense_Mutation_p.S792C|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S1055C NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1111 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 AGGGATCTCTCTGGACTTCAG 0.453 12 47 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209192962 209192962 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:209192962C>G uc002vcz.2 + 21 3835 c.3677C>G c.(3676-3678)TCT>TGT p.S1226C PIKFYVE_uc002vcy.1_Missense_Mutation_p.S1170C NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1226 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 AGCAGCTCTTCTGCCCAGTCC 0.453 35 82 --- --- --- --- PASS PER2 8864 broad.mit.edu 37 2 239184406 239184406 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr2:239184406G>A uc002vyc.2 - 4 663 c.426C>T c.(424-426)CTC>CTT p.L142L PER2_uc010znv.1_Silent_p.L142L|PER2_uc010znw.1_Silent_p.L142L|PER2_uc010fyx.1_Silent_p.L142L NM_022817 NP_073728 O15055 PER2_HUMAN period 2 142 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TCACGCTCCTGAGGGCGTACT 0.493 10 222 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38627355 38627355 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:38627355C>T uc003cio.2 - 16 2808 c.2614G>A c.(2614-2616)GAC>AAC p.D872N SCN5A_uc003cin.2_Missense_Mutation_p.D872N|SCN5A_uc003cil.3_Missense_Mutation_p.D872N|SCN5A_uc010hhi.2_Missense_Mutation_p.D872N|SCN5A_uc010hhk.2_Missense_Mutation_p.D872N|SCN5A_uc011ayr.1_Missense_Mutation_p.D872N|SCN5A_uc010hhj.1_Missense_Mutation_p.D483N NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 872 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGGCCTGAGTCGCTGTCCCTC 0.552 5 121 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49699829 49699829 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:49699829C>T uc003cxe.3 + 6 10665 c.10551C>T c.(10549-10551)GCC>GCT p.A3517A NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 3517 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCGCCCTGCCGGAGGGCCCC 0.677 22 38 --- --- --- --- PASS ARHGEF3 50650 broad.mit.edu 37 3 56787587 56787587 + Missense_Mutation SNP A G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:56787587A>G uc003dig.2 - 4 552 c.383T>C c.(382-384)TTT>TCT p.F128S ARHGEF3_uc011bew.1_Missense_Mutation_p.F128S|ARHGEF3_uc003dih.2_Missense_Mutation_p.F160S|ARHGEF3_uc011bev.1_Missense_Mutation_p.F99S|ARHGEF3_uc003dif.2_Missense_Mutation_p.F134S|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.F128S NM_019555 NP_062455 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 isoform 128 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) GGAAAGCTCAAAGATCGCCTG 0.368 19 36 --- --- --- --- PASS STXBP5L 9515 broad.mit.edu 37 3 121137260 121137260 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:121137260G>A uc003eec.3 + 27 3515 c.3375G>A c.(3373-3375)ATG>ATA p.M1125I STXBP5L_uc011bji.1_Missense_Mutation_p.M1101I NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 1125 v-SNARE coiled-coil homology. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) TAGAAGGGATGAAAGGCGCTG 0.522 6 41 --- --- --- --- PASS SNX4 8723 broad.mit.edu 37 3 125216804 125216804 + Silent SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:125216804G>C uc003eib.2 - 4 465 c.423C>G c.(421-423)CTC>CTG p.L141L SNX4_uc011bkf.1_5'UTR NM_003794 NP_003785 O95219 SNX4_HUMAN sorting nexin 4 141 PX. cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 TGTCAGCAGAGAGTTTATGCC 0.388 18 93 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126746920 126746920 + Nonsense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:126746920C>A uc003ejg.2 + 23 4435 c.4431C>A c.(4429-4431)TAC>TAA p.Y1477* PLXNA1_uc003ejh.2_Nonsense_Mutation_p.Y145* NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1500 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) AGATTGACTACAAGACACTGG 0.652 5 131 --- --- --- --- PASS RASA2 5922 broad.mit.edu 37 3 141304930 141304930 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:141304930C>G uc003etz.1 + 18 1816 c.1816C>G c.(1816-1818)CTG>GTG p.L606V RASA2_uc010huq.1_Missense_Mutation_p.L606V|RASA2_uc003eua.1_Missense_Mutation_p.L606V|RASA2_uc011bnc.1_Missense_Mutation_p.L198V NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 606 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 GCCTGTGCACCTGAAAGAAGG 0.289 4 9 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168838844 168838844 + Missense_Mutation SNP A C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:168838844A>C uc003ffi.3 - 6 837 c.568T>G c.(568-570)TGT>GGT p.C190G MECOM_uc010hwk.1_Missense_Mutation_p.C213G|MECOM_uc003ffj.3_Missense_Mutation_p.C255G|MECOM_uc011bpi.1_Missense_Mutation_p.C191G|MECOM_uc003ffn.3_Missense_Mutation_p.C190G|MECOM_uc003ffk.2_Missense_Mutation_p.C190G|MECOM_uc003ffl.2_Missense_Mutation_p.C350G|MECOM_uc011bpj.1_Missense_Mutation_p.C378G|MECOM_uc011bpk.1_Missense_Mutation_p.C180G|MECOM_uc010hwn.2_Missense_Mutation_p.C378G NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 190 Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 6. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 GAAAACTTACAGATAAAGGGC 0.552 44 70 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170800083 170800083 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:170800083C>G uc003fhh.2 - 27 3615 c.3270G>C c.(3268-3270)CAG>CAC p.Q1090H TNIK_uc003fhi.2_Missense_Mutation_p.Q1035H|TNIK_uc003fhj.2_Missense_Mutation_p.Q1061H|TNIK_uc003fhk.2_Missense_Mutation_p.Q1082H|TNIK_uc003fhl.2_Missense_Mutation_p.Q1006H|TNIK_uc003fhm.2_Missense_Mutation_p.Q1027H|TNIK_uc003fhn.2_Missense_Mutation_p.Q1053H|TNIK_uc003fho.2_Missense_Mutation_p.Q998H|TNIK_uc003fhg.2_Missense_Mutation_p.Q268H|TNIK_uc003fhp.2_Missense_Mutation_p.Q22H NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1090 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GCACATCCATCTGCTGAAATC 0.488 9 33 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178938934 178938934 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:178938934G>A uc003fjk.2 + 14 2333 c.2176G>A c.(2176-2178)GAA>AAA p.E726K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 726 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E726K(2) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAGAAGGATGAAACACAAAA 0.363 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 9 56 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183655727 183655727 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:183655727G>C uc003fmg.2 - 26 3981 c.3816C>G c.(3814-3816)ATC>ATG p.I1272M ABCC5_uc011bqt.1_Missense_Mutation_p.I800M|ABCC5_uc010hxl.2_Missense_Mutation_p.I1229M NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1272 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CTTGAGGAATGATAGAGAGTT 0.537 10 116 --- --- --- --- PASS EIF4A2 1974 broad.mit.edu 37 3 186502264 186502264 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:186502264G>C uc003fqs.2 + 2 112 c.73G>C c.(73-75)GAG>CAG p.E25Q EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.E26Q|EIF4A2_uc003fqv.2_5'UTR|EIF4A2_uc003fqw.2_5'UTR|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.1_5'Flank|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 25 interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) TGGTGTCATCGAGGTAAGAAA 0.478 T BCL6 NHL 31 389 --- --- --- --- PASS RTP2 344892 broad.mit.edu 37 3 187416707 187416707 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:187416707G>A uc003fro.1 - 2 686 c.257C>T c.(256-258)TCG>TTG p.S86L NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 86 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CATGCGCACCGAGCCCGCCCG 0.662 11 82 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193151649 193151649 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:193151649G>A uc003ftd.2 - 25 2935 c.2827C>T c.(2827-2829)CTT>TTT p.L943F ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 943 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) ACACCAATAAGAGTTGTAATG 0.403 19 106 --- --- --- --- PASS C3orf34 84984 broad.mit.edu 37 3 196434643 196434643 + Nonsense_Mutation SNP C A A rs139813132 by1000genomes TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:196434643C>A uc011btw.1 - 3 665 c.283G>T c.(283-285)GAA>TAA p.E95* NM_032898 NP_116287 Q96LK0 CEP19_HUMAN hypothetical protein LOC84984 91 centriole|spindle pole 0 all_cancers(143;1.48e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00301) TGAATTTGTTCCATTGTTTCT 0.428 22 229 --- --- --- --- PASS C3orf34 84984 broad.mit.edu 37 3 196434703 196434703 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr3:196434703C>G uc011btw.1 - 3 605 c.223G>C c.(223-225)GAG>CAG p.E75Q NM_032898 NP_116287 Q96LK0 CEP19_HUMAN hypothetical protein LOC84984 71 centriole|spindle pole 0 all_cancers(143;1.48e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00301) AATAGCTTCTCTAGCTGCCTC 0.438 30 230 --- --- --- --- PASS JAKMIP1 152789 broad.mit.edu 37 4 6064080 6064080 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:6064080C>T uc003giu.3 - 10 1795 c.1519G>A c.(1519-1521)GAG>AAG p.E507K JAKMIP1_uc010idb.1_Missense_Mutation_p.E507K|JAKMIP1_uc010idc.1_Missense_Mutation_p.E322K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E342K|JAKMIP1_uc003giv.3_Missense_Mutation_p.E507K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E507K NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 507 Mediates interaction with TYK2 and GABBR1.|Potential. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 CCCACCTGCTCCTGGAGCAGG 0.682 33 86 --- --- --- --- PASS CCDC158 339965 broad.mit.edu 37 4 77276503 77276503 + Nonsense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:77276503C>A uc003hkb.3 - 14 2413 c.2260G>T c.(2260-2262)GAA>TAA p.E754* NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 754 Potential. skin(3)|ovary(2)|pancreas(1) 6 ATTGCCTCTTCCAAAAACTGT 0.438 40 115 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77662003 77662003 + Nonsense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:77662003C>T uc011cbx.1 + 5 3630 c.2677C>T c.(2677-2679)CAG>TAG p.Q893* SHROOM3_uc011cbz.1_Nonsense_Mutation_p.Q717*|SHROOM3_uc003hkf.1_Nonsense_Mutation_p.Q768*|SHROOM3_uc003hkg.2_Nonsense_Mutation_p.Q671* NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 893 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) GAGCACCTTCCAGCTCTCCAG 0.731 5 21 --- --- --- --- PASS RAP1GDS1 5910 broad.mit.edu 37 4 99339876 99339876 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:99339876G>T uc003htx.3 + 10 1298 c.1108G>T c.(1108-1110)GTA>TTA p.V370L RAP1GDS1_uc003htw.3_Missense_Mutation_p.V371L|RAP1GDS1_uc003htv.3_Missense_Mutation_p.V371L|RAP1GDS1_uc003htz.3_Missense_Mutation_p.V321L|RAP1GDS1_uc003hty.3_Missense_Mutation_p.V322L|RAP1GDS1_uc003hua.3_Missense_Mutation_p.V279L NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 370 ARM 3. binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GGACAGACATGTAGAAGATGG 0.378 T NUP98 T-ALL 3 34 --- --- --- --- PASS TET2 54790 broad.mit.edu 37 4 106155466 106155466 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:106155466C>A uc003hxk.2 + 3 753 c.367C>A c.(367-369)CGT>AGT p.R123S TET2_uc011cez.1_Missense_Mutation_p.R144S|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.R123S|TET2_uc003hxi.1_Missense_Mutation_p.R123S NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 123 R -> H. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TGGAGAAAGACGTAACTTCGG 0.423 Mis N|F MDS 3 38 --- --- --- --- PASS TET2 54790 broad.mit.edu 37 4 106157923 106157923 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:106157923C>T uc003hxk.2 + 3 3210 c.2824C>T c.(2824-2826)CCC>TCC p.P942S TET2_uc011cez.1_Missense_Mutation_p.P963S|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.P942S|TET2_uc003hxi.1_Missense_Mutation_p.P942S NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 942 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TCAGACCCCTCCCCAGAAGGA 0.488 Mis N|F MDS 15 26 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113539912 113539912 + Nonsense_Mutation SNP G C C rs147826438 TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:113539912G>C uc003iau.2 - 6 1497 c.1286C>G c.(1285-1287)TCA>TGA p.S429* C4orf21_uc003iaw.2_Nonsense_Mutation_p.S429* NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GTCAGATTCTGATAATATACC 0.338 3 68 --- --- --- --- PASS BBS7 55212 broad.mit.edu 37 4 122775966 122775966 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:122775966C>G uc003ied.2 - 7 785 c.611G>C c.(610-612)GGA>GCA p.G204A BBS7_uc003iee.1_Missense_Mutation_p.G204A NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 204 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 AAGGTCTTCTCCAGAGTCACC 0.299 Bardet-Biedl_syndrome 5 37 --- --- --- --- PASS HSPA4L 22824 broad.mit.edu 37 4 128724970 128724970 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:128724970C>T uc003ifm.2 + 7 1103 c.850C>T c.(850-852)CTT>TTT p.L284F HSPA4L_uc010iny.1_Missense_Mutation_p.L243F|HSPA4L_uc011cgr.1_Missense_Mutation_p.L251F NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 284 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 TGCATCAGATCTTCCATTGAA 0.323 12 24 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134073688 134073688 + Missense_Mutation SNP A C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:134073688A>C uc003iha.2 + 1 3219 c.2393A>C c.(2392-2394)AAC>ACC p.N798T PCDH10_uc003igz.2_Missense_Mutation_p.N798T NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 798 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GTACCCAGTAACCCGGCCCAG 0.607 7 34 --- --- --- --- PASS PALLD 23022 broad.mit.edu 37 4 169835086 169835086 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr4:169835086C>T uc011cjx.1 + 16 2842 c.2631C>T c.(2629-2631)ATC>ATT p.I877I CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Silent_p.I860I|PALLD_uc003irv.2_Silent_p.I478I|PALLD_uc003irw.2_Silent_p.I362I|PALLD_uc003irx.2_Silent_p.I86I NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 1084 Ig-like C2-type 3. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) AGGGCCGCATCAGTTGTACTG 0.423 Pancreatic_Cancer_Familial_Clustering_of 11 41 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7727361 7727361 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:7727361C>T uc003jdz.1 + 14 1925 c.1858C>T c.(1858-1860)CTC>TTC p.L620F ADCY2_uc011cmo.1_Missense_Mutation_p.L440F NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 620 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TGTGCAGATTCTCGTGCTGCC 0.493 9 65 --- --- --- --- PASS FAM105B 90268 broad.mit.edu 37 5 14693101 14693101 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:14693101G>C uc003jfk.2 + 7 1155 c.1003G>C c.(1003-1005)GAG>CAG p.E335Q NM_138348 NP_612357 Q96BN8 F105B_HUMAN hypothetical protein LOC90268 335 ovary(2) 2 Lung NSC(4;0.00696) GCTCATTGCTGAGGACGATCG 0.562 5 41 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24535881 24535881 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:24535881C>A uc003jgr.1 - 4 909 c.577G>T c.(577-579)GGG>TGG p.G193W CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 193 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GCGCTGTTCCCATATGAAGGG 0.468 HNSCC(23;0.051) 8 47 --- --- --- --- PASS ACTBL2 345651 broad.mit.edu 37 5 56778146 56778146 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:56778146G>T uc003jrm.2 - 1 491 c.389C>A c.(388-390)ACA>AAA p.T130K NM_001017992 NP_001017992 Q562R1 ACTBL_HUMAN actin, beta-like 2 130 cytoplasm|cytoskeleton ATP binding ovary(3) 3 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) CATGGCTGGTGTGTTGAAAGC 0.562 4 50 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89986823 89986823 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:89986823G>C uc003kju.2 + 31 7012 c.6916G>C c.(6916-6918)GAG>CAG p.E2306Q GPR98_uc003kjt.2_Intron|GPR98_uc003kjv.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2306 Calx-beta 16.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTTGTTGTTAGAGGTCCTGGC 0.483 17 36 --- --- --- --- PASS ST8SIA4 7903 broad.mit.edu 37 5 100222116 100222116 + Missense_Mutation SNP A T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:100222116A>T uc003knk.2 - 3 762 c.434T>A c.(433-435)GTT>GAT p.V145D ST8SIA4_uc003knl.2_Missense_Mutation_p.V145D NM_005668 NP_005659 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide 145 Lumenal (Potential). axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) AGAATTTCCAACAACTGCACA 0.408 21 50 --- --- --- --- PASS CHSY3 337876 broad.mit.edu 37 5 129520539 129520539 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:129520539C>A uc003kvd.2 + 3 1704 c.1704C>A c.(1702-1704)AGC>AGA p.S568R NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 568 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) AGTTGTTCAGCAAGCCTTTCT 0.398 3 29 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140183011 140183011 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:140183011C>A uc003lhf.2 + 1 2229 c.2229C>A c.(2227-2229)AGC>AGA p.S743R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S743R NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 743 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGCTCCAGCGCGGTGGGGA 0.637 4 209 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140209689 140209689 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:140209689G>C uc003lho.2 + 1 2040 c.2013G>C c.(2011-2013)GAG>GAC p.E671D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.E671D NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 671 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGGTGGAGAGTGGCCAGG 0.677 39 65 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140725244 140725244 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:140725244G>A uc003ljm.1 + 1 1644 c.1644G>A c.(1642-1644)CTG>CTA p.L548L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.L308L|PCDHGA3_uc011dap.1_Silent_p.L548L NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 548 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGTGTCGCTGAACCTGTTCG 0.612 111 145 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168093540 168093540 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:168093540G>A uc003mab.2 - 36 4911 c.4491C>T c.(4489-4491)TAC>TAT p.Y1497Y SLIT3_uc010jjg.2_Silent_p.Y1504Y NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1497 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTGGAAGACGTATTTCCGCC 0.627 3 31 --- --- --- --- PASS HIST1H2BC 8347 broad.mit.edu 37 6 26123911 26123911 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:26123911G>A uc003ngk.3 - 1 244 c.222C>T c.(220-222)ATC>ATT p.I74I HIST1H2BC_uc003ngl.2_Silent_p.I74I|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank NM_003526 NP_003517 P62807 H2B1C_HUMAN histone cluster 1, H2bc 74 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 CCTCGCCCGCGATGCGCTCAA 0.582 48 151 --- --- --- --- PASS RNF5 6048 broad.mit.edu 37 6 32147865 32147865 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:32147865C>T uc003oaj.3 + 5 534 c.407C>T c.(406-408)ACC>ATC p.T136I AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank NM_006913 NP_008844 Q99942 RNF5_HUMAN ring finger protein 5 136 Helical; (Potential). ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 TTTTTCACCACCGTCTTCAAT 0.557 9 210 --- --- --- --- PASS NOTCH4 4855 broad.mit.edu 37 6 32163533 32163533 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:32163533C>G uc003obb.2 - 30 5832 c.5693G>C c.(5692-5694)CGG>CCG p.R1898P GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.R558P|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1898 Cytoplasmic (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CGAGAGGCTCCGGCAATGAGA 0.687 13 22 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85446684 85446684 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:85446684G>C uc003pkl.1 - 8 1543 c.1543C>G c.(1543-1545)CAG>GAG p.Q515E TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 515 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TAGGAACCCTGATGGGTCTGG 0.483 41 193 --- --- --- --- PASS FUT9 10690 broad.mit.edu 37 6 96651713 96651713 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:96651713G>A uc003pop.3 + 3 1023 c.682G>A c.(682-684)GAT>AAT p.D228N NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 228 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ATATGTCAATGATAAAAATTT 0.348 4 19 --- --- --- --- PASS NR2E1 7101 broad.mit.edu 37 6 108502128 108502128 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:108502128C>T uc003psg.2 + 7 1612 c.857C>T c.(856-858)GCC>GTC p.A286V NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 286 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) ACTGAATTTGCCTGTCTAAAA 0.458 5 219 --- --- --- --- PASS CD164 8763 broad.mit.edu 37 6 109700790 109700790 + Missense_Mutation SNP T C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:109700790T>C uc003pte.2 - 2 432 c.251A>G c.(250-252)GAA>GGA p.E84G CD164_uc003ptd.2_Missense_Mutation_p.E84G|CD164_uc003ptf.2_Missense_Mutation_p.E84G|CD164_uc011eap.1_Missense_Mutation_p.E84G|CD164_uc010kdn.2_Missense_Mutation_p.E84G NM_006016 NP_006007 Q04900 MUC24_HUMAN CD164 molecule, sialomucin isoform 1 84 Extracellular (Potential). hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane protein binding 0 all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175) Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16) ACCTTTACATTCTATCCAAAA 0.378 14 67 --- --- --- --- PASS GPR6 2830 broad.mit.edu 37 6 110300475 110300475 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:110300475C>G uc011eaw.1 + 2 340 c.160C>G c.(160-162)CTG>GTG p.L54V GPR6_uc011eav.1_Missense_Mutation_p.L69V|GPR6_uc003ptu.2_Missense_Mutation_p.L54V NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 54 Extracellular (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) TAATGGGTCTCTGGAGCTGTC 0.572 34 238 --- --- --- --- PASS WISP3 8838 broad.mit.edu 37 6 112389443 112389443 + Missense_Mutation SNP T A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:112389443T>A uc003pvm.2 + 5 735 c.625T>A c.(625-627)TGT>AGT p.C209S WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.C227S NM_003880 NP_003871 O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 209 TSP type-1. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding 0 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) GAAAAAAAAATGTCTTGTGCA 0.333 14 21 --- --- --- --- PASS PHACTR2 9749 broad.mit.edu 37 6 144086763 144086763 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:144086763G>A uc003qjq.3 + 6 1157 c.1027G>A c.(1027-1029)GAG>AAG p.E343K PHACTR2_uc010khh.2_Missense_Mutation_p.E263K|PHACTR2_uc010khi.2_Missense_Mutation_p.E354K|PHACTR2_uc003qjr.3_Missense_Mutation_p.E274K NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 343 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TCTCCCTCTTGAGGATCAGTG 0.592 14 83 --- --- --- --- PASS RMND1 55005 broad.mit.edu 37 6 151766679 151766679 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:151766679C>G uc003qoi.2 - 2 448 c.268G>C c.(268-270)GAT>CAT p.D90H RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.D90H|RMND1_uc011eer.1_Missense_Mutation_p.D90H NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog 90 0 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) GCCTTTTCATCTTGGCAACGA 0.393 7 322 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152690680 152690680 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:152690680C>T uc010kiw.2 - 60 10179 c.9577G>A c.(9577-9579)GAG>AAG p.E3193K SYNE1_uc003qot.3_Missense_Mutation_p.E3200K|SYNE1_uc003qou.3_Missense_Mutation_p.E3193K|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.E271K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3193 Spectrin 6.|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) ACCATCTTCTCAGTTTTACTC 0.502 HNSCC(10;0.0054) 14 50 --- --- --- --- PASS RBM16 22828 broad.mit.edu 37 6 155152162 155152162 + Silent SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:155152162C>A uc003qqa.2 + 20 2479 c.2247C>A c.(2245-2247)TCC>TCA p.S749S TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Silent_p.S815S|RBM16_uc011efk.1_Silent_p.S794S|RBM16_uc003qpz.2_Silent_p.S749S|RBM16_uc010kji.2_Silent_p.S770S NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 749 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) TTGCTACTTCCGCTCTGCCAG 0.448 3 76 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165809938 165809938 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr6:165809938C>T uc003qun.2 - 15 1500 c.1259G>A c.(1258-1260)AGA>AAA p.R420K PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R350K|PDE10A_uc003quo.2_Missense_Mutation_p.R430K NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 420 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GTGGCGAATTCTATGATACAT 0.373 9 80 --- --- --- --- PASS CHN2 1124 broad.mit.edu 37 7 29552201 29552201 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr7:29552201C>A uc003szz.2 + 13 1694 c.1257C>A c.(1255-1257)GAC>GAA p.D419E CHN2_uc011jzs.1_Missense_Mutation_p.D494E|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.D384E|CHN2_uc011jzt.1_Missense_Mutation_p.D432E|CHN2_uc010kvd.2_Missense_Mutation_p.D275E|CHN2_uc011jzu.1_Missense_Mutation_p.D404E|CHN2_uc010kvg.2_Missense_Mutation_p.D237E|CHN2_uc010kvh.2_Missense_Mutation_p.D179E|CHN2_uc010kvi.2_Missense_Mutation_p.D211E|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.D283E|CHN2_uc010kvf.2_Missense_Mutation_p.D225E|CHN2_uc010kvj.2_Missense_Mutation_p.D192E|CHN2_uc010kvk.2_Missense_Mutation_p.D94E|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.D238E|CHN2_uc011jzv.1_Missense_Mutation_p.D212E NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 419 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 ATGAAAAAGACAATTTCATGA 0.428 4 61 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38502604 38502604 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr7:38502604C>T uc003tgu.2 - 10 928 c.859G>A c.(859-861)GCA>ACA p.A287T AMPH_uc003tgv.2_Missense_Mutation_p.A287T|AMPH_uc003tgt.2_Missense_Mutation_p.A40T NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 287 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CGTGCTGGTGCGGGAGACGCA 0.547 14 103 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 71175772 71175772 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr7:71175772C>A uc003tvy.2 + 10 1527 c.1527C>A c.(1525-1527)TTC>TTA p.F509L WBSCR17_uc003tvz.2_Missense_Mutation_p.F208L NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 509 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGGAAGGCTTCCTGCACTTGG 0.632 22 102 --- --- --- --- PASS MGC26647 219557 broad.mit.edu 37 7 88423766 88423766 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr7:88423766G>A uc003ujv.2 - 2 673 c.491C>T c.(490-492)TCA>TTA p.S164L ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 164 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) TAGGGACTGTGACTGTGTCAC 0.398 19 98 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91631106 91631106 + Silent SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr7:91631106G>C uc003ulg.2 + 8 2100 c.1875G>C c.(1873-1875)CTG>CTC p.L625L AKAP9_uc003ule.2_Silent_p.L637L|AKAP9_uc003ulf.2_Silent_p.L625L|AKAP9_uc003uli.2_Silent_p.L250L NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 637 Glu-rich.|Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TAGAGAGGCTGAGAACACAGC 0.308 T BRAF papillary thyroid 7 60 --- --- --- --- PASS ARPC1A 10552 broad.mit.edu 37 7 98951667 98951667 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr7:98951667C>G uc003upx.1 + 6 783 c.636C>G c.(634-636)TTC>TTG p.F212L ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.F198L|ARPC1A_uc011kit.1_RNA NM_006409 NP_006400 Q92747 ARC1A_HUMAN actin related protein 2/3 complex subunit 1A 212 WD 4. actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding ovary(1) 1 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) GGGTAAGCTTCTCTGCCAGTG 0.592 35 138 --- --- --- --- PASS PILRA 29992 broad.mit.edu 37 7 99971947 99971947 + Silent SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr7:99971947G>T uc003uuo.1 + 2 557 c.345G>T c.(343-345)CTG>CTT p.L115L PILRA_uc011kjn.1_Silent_p.L115L|PILRA_uc011kjo.1_Silent_p.L115L|PILRA_uc003uup.1_Silent_p.L115L|PILRA_uc003uuq.1_Silent_p.L115L NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 115 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTCCAACCTGCAGAAGCAGG 0.557 10 249 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103124174 103124174 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr7:103124174G>A uc003vca.2 - 62 10267 c.10107C>T c.(10105-10107)ATC>ATT p.I3369I RELN_uc010liz.2_Silent_p.I3369I NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3369 BNR 16. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CATGCCAGGTGATCCCGTTGT 0.562 62 123 --- --- --- --- PASS SND1 27044 broad.mit.edu 37 7 127528043 127528043 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr7:127528043G>C uc003vmi.2 + 13 1658 c.1432G>C c.(1432-1434)GAA>CAA p.E478Q SND1_uc010lle.2_Missense_Mutation_p.E131Q NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 478 TNase-like 3. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 ACACTACGATGAACTGCTTGC 0.468 3 32 --- --- --- --- PASS LPL 4023 broad.mit.edu 37 8 19797007 19797007 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr8:19797007C>A uc003wzk.3 + 1 426 c.56C>A c.(55-57)ACC>AAC p.T19N NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 19 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) CAGAGTCTGACCGCCTCCCGC 0.692 3 17 --- --- --- --- PASS KCTD9 54793 broad.mit.edu 37 8 25293004 25293004 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr8:25293004G>C uc003xeo.2 - 9 846 c.688C>G c.(688-690)CTT>GTT p.L230V PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_5'Flank NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 230 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) AAACGAGAAAGATCAGCACCA 0.358 6 19 --- --- --- --- PASS GPR124 25960 broad.mit.edu 37 8 37672477 37672477 + Silent SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr8:37672477G>T uc003xkj.2 + 2 693 c.330G>T c.(328-330)CTG>CTT p.L110L GPR124_uc003xki.2_Silent_p.L110L|GPR124_uc010lvy.2_Silent_p.L110L NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 110 Extracellular (Potential).|LRR 2. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGTCACTGCTGGAGAAGCTGT 0.602 5 299 --- --- --- --- PASS HOOK3 84376 broad.mit.edu 37 8 42821647 42821647 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr8:42821647C>T uc003xpr.2 + 10 1053 c.811C>T c.(811-813)CGT>TGT p.R271C HOOK3_uc010lxq.1_Missense_Mutation_p.R271C NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 271 Potential. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) TTATCGAATACGTTGTGAAGA 0.398 T RET papillary thyroid 43 63 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43157168 43157168 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr8:43157168C>G uc003xpz.1 + 5 791 c.748C>G c.(748-750)CTA>GTA p.L250V POTEA_uc003xqa.1_Intron NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 250 ANK 5. ovary(1) 1 AGTTAGTCTTCTACTTCAGCA 0.328 9 31 --- --- --- --- PASS MCM4 4173 broad.mit.edu 37 8 48877253 48877253 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr8:48877253G>A uc003xqk.1 + 8 908 c.813G>A c.(811-813)ATG>ATA p.M271I MCM4_uc003xql.1_Missense_Mutation_p.M271I|MCM4_uc011ldi.1_Missense_Mutation_p.M258I|MCM4_uc010lxw.1_RNA NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 271 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CTAAGAATATGAGAAACCTGA 0.338 13 45 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89180185 89180185 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr8:89180185G>C uc003yeb.3 - 4 704 c.422C>G c.(421-423)CCA>CGA p.P141R MMP16_uc003yec.2_Missense_Mutation_p.P141R NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 141 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TCCTACTTTTGGAGTTACGTT 0.363 14 44 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113697958 113697958 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr8:113697958G>A uc003ynu.2 - 15 2318 c.2159C>T c.(2158-2160)CCC>CTC p.P720L CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.P680L|CSMD3_uc011lhx.1_Missense_Mutation_p.P616L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 720 Extracellular (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 AGACAGGCAGGGAACTGGTGA 0.318 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 54 --- --- --- --- PASS RHPN1 114822 broad.mit.edu 37 8 144459598 144459598 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr8:144459598G>C uc003yyb.2 + 4 487 c.354G>C c.(352-354)AAG>AAC p.K118N NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 118 BRO1. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) AGGAGACCAAGGAGCTGGACT 0.522 10 49 --- --- --- --- PASS FOXD4 2298 broad.mit.edu 37 9 117745 117745 + Silent SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr9:117745G>C uc003zfz.2 - 1 673 c.375C>G c.(373-375)CTC>CTG p.L125L NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 125 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CGCTGAGCGTGAGGCGCTTGT 0.647 13 271 --- --- --- --- PASS KIAA2026 158358 broad.mit.edu 37 9 5921511 5921511 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr9:5921511C>T uc003zjq.3 - 8 4701 c.4485G>A c.(4483-4485)GCG>GCA p.A1495A KIAA2026_uc010mht.2_Silent_p.A670A NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1495 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TAGATGTCAGCGCAGGTGTCA 0.413 10 23 --- --- --- --- PASS ECM2 1842 broad.mit.edu 37 9 95264875 95264875 + Silent SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr9:95264875G>C uc004ash.2 - 8 1589 c.1524C>G c.(1522-1524)ACC>ACG p.T508T CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.T486T|ECM2_uc011lty.1_Silent_p.T508T|ECM2_uc004asg.2_Silent_p.T486T|ECM2_uc010mqz.1_Intron NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 508 cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 TGATCTTTCTGGTATGATTGA 0.274 4 20 --- --- --- --- PASS GALNT12 79695 broad.mit.edu 37 9 101611252 101611252 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr9:101611252G>A uc004ayz.2 + 10 1624 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN N-acetylgalactosaminyltransferase 12 542 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(62;0.0559) TTTATTTCACGAACAGTCCAA 0.423 OREG0019361 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 22 --- --- --- --- PASS MAPKAP1 79109 broad.mit.edu 37 9 128419946 128419946 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr9:128419946G>C uc004bpv.2 - 4 815 c.482C>G c.(481-483)TCC>TGC p.S161C MAPKAP1_uc011lzv.1_5'UTR|MAPKAP1_uc004bpw.2_5'UTR|MAPKAP1_uc004bpx.2_5'UTR|MAPKAP1_uc004bpy.2_Missense_Mutation_p.S161C|MAPKAP1_uc004bpz.2_Missense_Mutation_p.S161C|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.S161C|MAPKAP1_uc010mxc.1_5'UTR NM_001006617 NP_001006618 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated 161 Interaction with MAP3K2. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding ovary(2)|lung(2) 4 ATCAAATTTGGAATACTCGTT 0.378 10 43 --- --- --- --- PASS PRDM12 59335 broad.mit.edu 37 9 133556880 133556880 + Nonsense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr9:133556880C>T uc004bzt.1 + 5 988 c.928C>T c.(928-930)CAG>TAG p.Q310* NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN PR domain containing 12 310 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) CGCCTACTCGCAGCTGGCCGG 0.751 4 11 --- --- --- --- PASS VAV2 7410 broad.mit.edu 37 9 136671274 136671274 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr9:136671274C>T uc004ces.2 - 9 811 c.765G>A c.(763-765)CTG>CTA p.L255L VAV2_uc004cer.2_Silent_p.L250L NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 255 DH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CGATGGCCCTCAGGAAGCTGT 0.627 6 20 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137677895 137677895 + Splice_Site SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr9:137677895G>C uc004cfe.2 + 31 3028 c.2646_splice c.e31+1 p.K882_splice NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 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) AGGACCAAAGGTAACTTCTGG 0.592 5 17 --- --- --- --- PASS DIP2C 22982 broad.mit.edu 37 10 436246 436246 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:436246G>A uc001ifp.2 - 12 1542 c.1452C>T c.(1450-1452)TTC>TTT p.F484F DIP2C_uc009xhj.1_Silent_p.F180F NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 484 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TAATGTGTGGGAACCAGTCTC 0.488 37 120 --- --- --- --- PASS PITRM1 10531 broad.mit.edu 37 10 3202450 3202450 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:3202450G>A uc010qah.1 - 7 800 c.768C>T c.(766-768)TTC>TTT p.F256F PITRM1_uc001igr.1_Silent_p.F288F|PITRM1_uc001igt.1_Silent_p.F288F|PITRM1_uc009xhv.1_5'Flank|PITRM1_uc001igu.1_Silent_p.F280F|PITRM1_uc010qai.1_Silent_p.F259F|PITRM1_uc001igw.1_Silent_p.F288F E7ES23 E7ES23_HUMAN SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA; 256 proteolysis metalloendopeptidase activity|zinc ion binding pancreas(1) 1 CAATTTTCTGGAATTTGCTCA 0.438 10 32 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15639281 15639281 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:15639281G>T uc001ioc.1 - 21 2136 c.2136C>A c.(2134-2136)AGC>AGA p.S712R ITGA8_uc010qcb.1_Missense_Mutation_p.S697R NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 712 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TGTACTCACAGCTCAGTGGTC 0.488 22 69 --- --- --- --- PASS EPC1 80314 broad.mit.edu 37 10 32581966 32581966 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:32581966C>T uc001iwg.1 - 4 886 c.616G>A c.(616-618)GAT>AAT p.D206N EPC1_uc001iwi.3_Missense_Mutation_p.D156N|EPC1_uc009xlt.2_Missense_Mutation_p.D156N|EPC1_uc001iwh.1_Missense_Mutation_p.D206N NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 206 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) ACATAAGGATCATTTGTGCTG 0.303 7 35 --- --- --- --- PASS SLC18A3 6572 broad.mit.edu 37 10 50819868 50819868 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:50819868C>T uc001jhw.2 + 1 1522 c.1082C>T c.(1081-1083)GCG>GTG p.A361V CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 361 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CTGTACGGCGCGCTTGGGCTG 0.682 18 85 --- --- --- --- PASS SFTPA1 653509 broad.mit.edu 37 10 81371658 81371658 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:81371658G>T uc001kap.2 + 3 198 c.77G>T c.(76-78)TGT>TTT p.C26F SFTPA1_uc001kao.2_RNA|SFTPA1_uc001kaq.2_Missense_Mutation_p.C26F|SFTPA1_uc009xry.2_Missense_Mutation_p.C41F|SFTPA1_uc001kar.2_Missense_Mutation_p.C26F|SFTPA1_uc010qlt.1_Intron|SFTPA1_uc009xrz.2_Missense_Mutation_p.C36F|SFTPA1_uc009xsa.2_Missense_Mutation_p.C26F|SFTPA1_uc009xsf.2_5'Flank NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 26 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) AAGGACGTTTGTGTTGGAAGC 0.622 4 257 --- --- --- --- PASS MMS19 64210 broad.mit.edu 37 10 99221792 99221792 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:99221792G>A uc001kns.3 - 21 2322 c.2097C>T c.(2095-2097)AGC>AGT p.S699S MMS19_uc001knq.2_5'Flank|MMS19_uc009xvs.2_Silent_p.S284S|MMS19_uc009xvt.2_Silent_p.S443S|MMS19_uc001knr.2_Silent_p.S540S|MMS19_uc010qox.1_Silent_p.S677S|MMS19_uc001knt.2_Silent_p.S699S|MMS19_uc001knu.1_RNA NM_022362 NP_071757 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog 699 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity 0 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) GCTGGAATCTGCTCGGGAAGC 0.493 Direct_reversal_of_damage|NER 3 10 --- --- --- --- PASS CHUK 1147 broad.mit.edu 37 10 101980409 101980409 + Missense_Mutation SNP T C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:101980409T>C uc001kqp.2 - 5 465 c.410A>G c.(409-411)GAA>GGA p.E137G NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 137 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) AATTTTGTTTTCATGCAAATA 0.308 5 28 --- --- --- --- PASS PDCD11 22984 broad.mit.edu 37 10 105184879 105184879 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:105184879G>C uc001kwy.1 + 20 2989 c.2902G>C c.(2902-2904)GAG>CAG p.E968Q NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 968 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTTTGACTCAGAGAAATTGCA 0.572 25 68 --- --- --- --- PASS C10orf118 55088 broad.mit.edu 37 10 115910894 115910894 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:115910894G>T uc001lbb.1 - 4 1497 c.845C>A c.(844-846)GCA>GAA p.A282E C10orf118_uc001lbc.1_Missense_Mutation_p.A282E|C10orf118_uc009xye.1_RNA NM_018017 NP_060487 Q7Z3E2 CJ118_HUMAN CTCL tumor antigen L14-2 282 Potential. ovary(2) 2 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) CTGCTGAACTGCATTTTTAGC 0.343 4 76 --- --- --- --- PASS C10orf119 79892 broad.mit.edu 37 10 121616948 121616948 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:121616948G>C uc001ler.2 - 5 629 c.331C>G c.(331-333)CAA>GAA p.Q111E C10orf119_uc001les.1_5'UTR NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN chromosome 10 open reading frame 119 111 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding 0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.0044) AGTTCTTGTTGAGGCTGTGAT 0.318 9 37 --- --- --- --- PASS C10orf88 80007 broad.mit.edu 37 10 124708165 124708165 + Silent SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr10:124708165C>G uc001lgw.2 - 4 873 c.648G>C c.(646-648)CGG>CGC p.R216R C10orf88_uc001lgx.2_Silent_p.R118R NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 216 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TTCTACTTACCCGCTGCTGAC 0.378 8 38 --- --- --- --- PASS LDLRAD3 143458 broad.mit.edu 37 11 36248660 36248660 + Silent SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:36248660G>T uc001mwk.1 + 5 517 c.480G>T c.(478-480)GTG>GTT p.V160V LDLRAD3_uc010rey.1_Silent_p.V111V|LDLRAD3_uc010rez.1_Silent_p.V39V|LDLRAD3_uc010rfa.1_Intron NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 160 Extracellular (Potential). integral to membrane receptor activity central_nervous_system(1) 1 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) AGGTGTTTGTGACTTCAGAGA 0.507 7 209 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55873016 55873016 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:55873016G>T uc010riy.1 + 1 498 c.498G>T c.(496-498)TTG>TTT p.L166F NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 166 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TGAGCAGATTGCATTTCTACG 0.423 HNSCC(53;0.14) 4 181 --- --- --- --- PASS OR1S2 219958 broad.mit.edu 37 11 57971290 57971290 + Missense_Mutation SNP C T T rs138124206 TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:57971290C>T uc010rkb.1 - 1 364 c.364G>A c.(364-366)GTC>ATC p.V122I NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 122 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) TTGTCAGTGACGACAAACACA 0.473 19 79 --- --- --- --- PASS OR10W1 81341 broad.mit.edu 37 11 58035329 58035329 + Missense_Mutation SNP A T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:58035329A>T uc001nmq.1 - 1 404 c.2T>A c.(1-3)ATG>AAG p.M1K NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) CACAAATTCCATCAACACTGA 0.428 7 19 --- --- --- --- PASS VWCE 220001 broad.mit.edu 37 11 61048621 61048621 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:61048621C>T uc001nra.2 - 8 1153 c.874G>A c.(874-876)GGC>AGC p.G292S VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 292 extracellular region calcium ion binding ovary(1) 1 GCAGGCCGGCCGGCCTCAGGA 0.657 4 134 --- --- --- --- PASS PPP2R5B 5526 broad.mit.edu 37 11 64694350 64694350 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:64694350C>T uc001oby.2 + 3 951 c.366C>T c.(364-366)ATC>ATT p.I122I PPP2R5B_uc001obz.2_Silent_p.I122I NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 122 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 GTGTCCTCATCGAGCCCGTCT 0.662 20 78 --- --- --- --- PASS ARHGEF17 9828 broad.mit.edu 37 11 73066920 73066920 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:73066920G>A uc001otu.2 + 5 3606 c.3585G>A c.(3583-3585)GAG>GAA p.E1195E NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1195 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 GCATGCGTGAGAACAAGGAGA 0.577 53 238 --- --- --- --- PASS GPR83 10888 broad.mit.edu 37 11 94134045 94134045 + Silent SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:94134045G>C uc001pet.2 - 1 541 c.369C>G c.(367-369)CTC>CTG p.L123L NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 123 Helical; Name=2; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGGGGGTGTTGAGCAGCGTGA 0.438 16 43 --- --- --- --- PASS PIWIL4 143689 broad.mit.edu 37 11 94300723 94300723 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:94300723C>T uc001pfa.2 + 1 250 c.39C>T c.(37-39)GCC>GCT p.A13A PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_Intron NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 13 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GAGGCATCGCCCGCAGCCCCA 0.552 4 14 --- --- --- --- PASS PPP2R1B 5519 broad.mit.edu 37 11 111618706 111618706 + Silent SNP A G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:111618706A>G uc001plx.1 - 11 1455 c.1371T>C c.(1369-1371)TCT>TCC p.S457S PPP2R1B_uc001plw.1_Silent_p.S457S|PPP2R1B_uc010rwi.1_Silent_p.S393S|PPP2R1B_uc010rwj.1_Silent_p.S296S|PPP2R1B_uc010rwk.1_Silent_p.S412S|PPP2R1B_uc010rwl.1_Silent_p.S330S NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 457 HEAT 12. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) CCATACATAAAGAATTCAGCT 0.333 10 31 --- --- --- --- PASS PHLDB1 23187 broad.mit.edu 37 11 118509911 118509911 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:118509911G>A uc001ptr.1 + 13 3031 c.2678G>A c.(2677-2679)AGA>AAA p.R893K PHLDB1_uc001pts.2_Missense_Mutation_p.R893K|PHLDB1_uc001ptt.2_Missense_Mutation_p.R893K|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.R693K|PHLDB1_uc001ptw.1_Missense_Mutation_p.R295K|PHLDB1_uc009zai.1_5'UTR|PHLDB1_uc001ptx.1_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 893 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CTGGAAAGGAGATACCACTCA 0.582 16 92 --- --- --- --- PASS FOXR1 283150 broad.mit.edu 37 11 118851317 118851317 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr11:118851317C>T uc001pui.2 + 5 954 c.729C>T c.(727-729)AGC>AGT p.S243S FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_Silent_p.S74S NM_181721 NP_859072 Q6PIV2 FOXR1_HUMAN forkhead box R1 243 Fork-head. embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GCGGGGCCAGCACACGGCCTC 0.607 30 121 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 1009828 1009828 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:1009828C>A uc001qio.3 + 26 7142 c.6635C>A c.(6634-6636)CCA>CAA p.P2212Q WNK1_uc001qip.3_Missense_Mutation_p.P1964Q|WNK1_uc001qir.3_Missense_Mutation_p.P1385Q|WNK1_uc009zdm.1_RNA|WNK1_uc009zdn.1_RNA|uc009zdo.1_5'Flank NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2212 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTTTCTGCTCCAGGTCAAGGT 0.473 4 187 --- --- --- --- PASS PRPF40B 25766 broad.mit.edu 37 12 50037728 50037728 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:50037728G>C uc001rur.1 + 24 2528 c.2464G>C c.(2464-2466)GAG>CAG p.E822Q FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Missense_Mutation_p.E809Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E764Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 822 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CAAGGACAGGGAGCTCCAACA 0.552 16 64 --- --- --- --- PASS KRT72 140807 broad.mit.edu 37 12 52992774 52992774 + Silent SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:52992774C>A uc001sar.2 - 2 635 c.549G>T c.(547-549)CTG>CTT p.L183L KRT72_uc001saq.2_Silent_p.L183L|KRT72_uc010sns.1_Silent_p.L183L|KRT72_uc010snt.1_5'UTR NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 183 Coil 1B.|Rod. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) GCTGCTTCTGCAGGTTGCTGA 0.537 13 169 --- --- --- --- PASS MYL6 4637 broad.mit.edu 37 12 56553920 56553920 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:56553920C>G uc001sjw.1 + 4 423 c.337C>G c.(337-339)CTT>GTT p.L113V MYL6_uc001sjv.2_Missense_Mutation_p.L113V|MYL6_uc001sjx.1_Missense_Mutation_p.L113V|MYL6_uc010sqd.1_Missense_Mutation_p.L206V|MYL6_uc001sjz.2_Missense_Mutation_p.L78V|MYL6_uc010sqe.1_Missense_Mutation_p.L78V NM_021019 NP_066299 P60660 MYL6_HUMAN myosin, light chain 6, alkali, smooth muscle and 113 EF-hand 2. axon guidance|muscle filament sliding|skeletal muscle tissue development cytosol|unconventional myosin complex actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(18;0.0979) CCGGCATGTTCTTGTCACACT 0.502 22 60 --- --- --- --- PASS BAZ2A 11176 broad.mit.edu 37 12 57008797 57008797 + Splice_Site SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:57008797C>A uc001slq.1 - 3 930 c.736_splice c.e3+1 p.E246_splice BAZ2A_uc001slp.1_Splice_Site_p.E244_splice|BAZ2A_uc010sqr.1_Missense_Mutation_p.G246V|BAZ2A_uc009zow.1_Splice_Site_p.E214_splice NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 CCCAGTTATACCTGGCTGCTC 0.512 3 12 --- --- --- --- PASS C12orf61 283416 broad.mit.edu 37 12 62996892 62996892 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:62996892G>C uc001sri.1 - 1 323 c.227C>G c.(226-228)TCG>TGG p.S76W MIRLET7I_hsa-let-7i|MI0000434_5'Flank|uc001srj.1_5'Flank NM_175895 NP_787091 Q8N7H1 CL061_HUMAN hypothetical protein LOC283416 76 0 BRCA - Breast invasive adenocarcinoma(9;0.0399) GBM - Glioblastoma multiforme(28;0.134) TATCGGCGCCGAGAGCGGGCC 0.766 5 11 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81762563 81762563 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:81762563C>G uc001szo.1 - 13 1584 c.1423G>C c.(1423-1425)GAA>CAA p.E475Q PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 401 ovary(3)|lung(2)|pancreas(1) 6 TCATTGGATTCAGTCAGAAGT 0.343 26 82 --- --- --- --- PASS UHRF1BP1L 23074 broad.mit.edu 37 12 100452907 100452907 + Missense_Mutation SNP T C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:100452907T>C uc001tgq.2 - 14 2377 c.2148A>G c.(2146-2148)ATA>ATG p.I716M UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.I366M NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 716 ovary(2) 2 CTACAAAACTTATTGGCCGTC 0.398 20 56 --- --- --- --- PASS GNPTAB 79158 broad.mit.edu 37 12 102158641 102158641 + Nonsense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:102158641G>C uc001tit.2 - 13 2233 c.2054C>G c.(2053-2055)TCA>TGA p.S685* NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 685 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 TCTCCTTGTTGAGTTAACATC 0.423 5 44 --- --- --- --- PASS HCFC2 29915 broad.mit.edu 37 12 104487212 104487212 + Nonsense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:104487212G>T uc001tkj.3 + 10 1436 c.1333G>T c.(1333-1335)GAA>TAA p.E445* HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 445 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 AGCCACAAAAGAAACTTCAAT 0.313 5 21 --- --- --- --- PASS BRAP 8315 broad.mit.edu 37 12 112087808 112087808 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:112087808C>G uc001tsn.3 - 11 1544 c.1350G>C c.(1348-1350)GAG>GAC p.E450D BRAP_uc010syh.1_Missense_Mutation_p.E271D|BRAP_uc009zvv.2_Missense_Mutation_p.E420D NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 450 Potential. MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 TATCACACTTCTCAATTGTTT 0.358 10 37 --- --- --- --- PASS SFRS9 8683 broad.mit.edu 37 12 120903553 120903553 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:120903553C>G uc001tyi.2 - 2 372 c.226G>C c.(226-228)GAT>CAT p.D76H SFRS9_uc009zwy.2_Missense_Mutation_p.D76H NM_003769 NP_003760 Q13242 SRSF9_HUMAN splicing factor, arginine/serine-rich 9 76 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|RNA binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCCATAATCATAACCATTT 0.483 6 28 --- --- --- --- PASS RNF10 9921 broad.mit.edu 37 12 120995234 120995234 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:120995234C>G uc001typ.3 + 5 1278 c.795C>G c.(793-795)ATC>ATG p.I265M RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.I171M NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 265 RING-type. negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AATGTCCCATCTGTTACAGTT 0.458 50 95 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132445647 132445647 + Silent SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:132445647C>G uc001ujn.2 + 1 518 c.483C>G c.(481-483)CTC>CTG p.L161L EP400_uc001ujl.2_Silent_p.L161L|EP400_uc001ujm.2_Silent_p.L161L|EP400_uc001ujj.1_Silent_p.L161L|EP400_uc001ujk.2_Silent_p.L161L NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 161 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGCTGGGCCTCTGCAGCAGCA 0.667 4 18 --- --- --- --- PASS GOLGA3 2802 broad.mit.edu 37 12 133372731 133372731 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:133372731G>C uc001ukz.1 - 11 2735 c.2176C>G c.(2176-2178)CTC>GTC p.L726V GOLGA3_uc001ula.1_Missense_Mutation_p.L726V|GOLGA3_uc001ulb.2_Missense_Mutation_p.L726V NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 726 Gln-rich.|Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GTCAAGGTGAGCTGTTTCATC 0.587 12 49 --- --- --- --- PASS ZNF10 7556 broad.mit.edu 37 12 133733132 133733132 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr12:133733132G>C uc009zzb.2 + 5 1747 c.1300G>C c.(1300-1302)GAG>CAG p.E434Q ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.E434Q NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 434 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AAAACCTTTTGAGTGTAAGGA 0.413 25 84 --- --- --- --- PASS FKBP3 2287 broad.mit.edu 37 14 45587322 45587322 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr14:45587322C>T uc010tqf.1 - 6 602 c.529G>A c.(529-531)GAA>AAA p.E177K NM_002013 NP_002004 Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa 177 PPIase FKBP-type. protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity 0 AAGAGAGCTTCATCCCACTAA 0.393 11 66 --- --- --- --- PASS FRMD6 122786 broad.mit.edu 37 14 52182111 52182111 + Nonsense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr14:52182111C>A uc001wzd.2 + 10 1203 c.918C>A c.(916-918)TGC>TGA p.C306* FRMD6_uc001wzb.2_Nonsense_Mutation_p.C298*|FRMD6_uc001wzc.2_Nonsense_Mutation_p.C298*|FRMD6_uc001wze.2_Nonsense_Mutation_p.C229*|FRMD6_uc001wzf.2_5'UTR|FRMD6_uc001wzg.2_5'Flank NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 306 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) ACACGGGGTGCCCCATGCGCT 0.512 13 25 --- --- --- --- PASS ZBTB1 22890 broad.mit.edu 37 14 64988550 64988550 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr14:64988550C>G uc001xhh.3 + 4 759 c.328C>G c.(328-330)CCT>GCT p.P110A ZBTB1_uc010aqg.2_Missense_Mutation_p.P110A|ZBTB1_uc001xhi.2_Missense_Mutation_p.P110A NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) ATACAATGTTCCTGACTGTTT 0.378 33 51 --- --- --- --- PASS ZBTB1 22890 broad.mit.edu 37 14 64988812 64988812 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr14:64988812C>T uc001xhh.3 + 4 1021 c.590C>T c.(589-591)TCC>TTC p.S197F ZBTB1_uc010aqg.2_Missense_Mutation_p.S197F|ZBTB1_uc001xhi.2_Missense_Mutation_p.S197F NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) AAAAAAAGTTCCGTGTCCAAA 0.378 26 53 --- --- --- --- PASS SPATA7 55812 broad.mit.edu 37 14 88904590 88904590 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr14:88904590G>A uc001xwq.2 + 12 1775 c.1624G>A c.(1624-1626)GAA>AAA p.E542K SPATA7_uc001xwr.2_Missense_Mutation_p.E510K|SPATA7_uc001xws.2_Missense_Mutation_p.E478K|SPATA7_uc001xwt.2_Missense_Mutation_p.E436K|SPATA7_uc001xwu.2_Intron NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 542 response to stimulus|visual perception ovary(1) 1 GAATGTCATTGAAGGTGATAG 0.388 6 51 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105409872 105409872 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr14:105409872C>T uc010axc.1 - 7 12036 c.11916G>A c.(11914-11916)AAG>AAA p.K3972K AHNAK2_uc001ypx.2_Silent_p.K3872K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3972 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) GCATCTTGAACTTGGGCATTT 0.622 27 705 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105409902 105409902 + Silent SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr14:105409902C>A uc010axc.1 - 7 12006 c.11886G>T c.(11884-11886)ACG>ACT p.T3962T AHNAK2_uc001ypx.2_Silent_p.T3862T NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3962 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) TGTCTTTGGCCGTCATGTCCT 0.622 48 679 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105419662 105419662 + Missense_Mutation SNP A T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr14:105419662A>T uc010axc.1 - 7 2246 c.2126T>A c.(2125-2127)GTG>GAG p.V709E AHNAK2_uc001ypx.2_Missense_Mutation_p.V609E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 709 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) GAGGAGGCTCACGTCGGCCTC 0.607 138 151 --- --- --- --- PASS C15orf56 644809 broad.mit.edu 37 15 40544699 40544699 + Silent SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr15:40544699C>G uc001zla.1 - 2 294 c.273G>C c.(271-273)GCG>GCC p.A91A PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron|PAK6_uc001zky.3_Intron|PAK6_uc010bbn.2_Intron|PAK6_uc001zlb.2_5'Flank NM_001039905 NP_001034994 Q8N910 CO056_HUMAN hypothetical protein LOC644809 91 0 all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503) CAACTTCTCCCGCGCTCTGGG 0.662 6 23 --- --- --- --- PASS LIPC 3990 broad.mit.edu 37 15 58834752 58834752 + Missense_Mutation SNP G A A rs145742763 TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr15:58834752G>A uc010bga.1 + 6 1084 c.476G>A c.(475-477)CGA>CAA p.R159Q LIPC_uc010bfz.1_Missense_Mutation_p.R159Q|LIPC_uc002afa.1_Missense_Mutation_p.R159Q|LIPC_uc010bgb.1_Missense_Mutation_p.R57Q|LIPC_uc010ugy.1_Missense_Mutation_p.R98Q NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 159 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CAACTCTCTCGAAGCCATGTT 0.562 36 197 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62223364 62223364 + Nonsense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr15:62223364G>C uc002agz.2 - 50 6037 c.5963C>G c.(5962-5964)TCA>TGA p.S1988* VPS13C_uc002aha.2_Nonsense_Mutation_p.S1945*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.S1988*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.S1945* NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1988 protein localization ovary(2) 2 GACATTCATTGAGCCATCCTT 0.423 35 33 --- --- --- --- PASS PTPN9 5780 broad.mit.edu 37 15 75762273 75762273 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr15:75762273G>A uc002bal.2 - 12 1935 c.1427C>T c.(1426-1428)TCA>TTA p.S476L NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 476 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 GGAAGCTGCTGAGGAAGGGAC 0.522 54 30 --- --- --- --- PASS HAPLN3 145864 broad.mit.edu 37 15 89424863 89424863 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr15:89424863C>T uc002bnc.2 - 3 346 c.218G>A c.(217-219)CGC>CAC p.R73H HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R135H NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 73 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) CGGCTCGTAGCGGTAGCGGCA 0.647 60 90 --- --- --- --- PASS CLCN7 1186 broad.mit.edu 37 16 1499072 1499072 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:1499072C>T uc002clv.2 - 19 1802 c.1692G>A c.(1690-1692)CTG>CTA p.L564L CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_Silent_p.L12L|CLCN7_uc002clw.2_Silent_p.L540L NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 564 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) CGGTCAGGCTCAGTGTCATCC 0.617 37 31 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3652259 3652259 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:3652259C>G uc002cvp.2 - 4 1437 c.810G>C c.(808-810)TTG>TTC p.L270F BTBD12_uc002cvq.1_Missense_Mutation_p.L270F NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 270 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 GCTGCAGGGTCAAGGCCACCG 0.537 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 4 182 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9857426 9857426 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:9857426G>A uc002czo.3 - 13 4523 c.3975C>T c.(3973-3975)TAC>TAT p.Y1325Y GRIN2A_uc010uym.1_Silent_p.Y1325Y|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1325 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACAGGCTGCCGTAAAAATTTC 0.527 51 68 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15831356 15831356 + Silent SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:15831356G>C uc002ddy.2 - 25 3350 c.3243C>G c.(3241-3243)CTC>CTG p.L1081L MYH11_uc002ddv.2_Silent_p.L1088L|MYH11_uc002ddw.2_Silent_p.L1081L|MYH11_uc002ddx.2_Silent_p.L1088L|MYH11_uc010bvg.2_Silent_p.L913L NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1081 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GCTGCATCTTGAGCTCTGCGA 0.627 T CBFB AML 55 196 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15841585 15841585 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:15841585G>C uc002ddy.2 - 19 2360 c.2253C>G c.(2251-2253)ATC>ATG p.I751M MYH11_uc002ddv.2_Missense_Mutation_p.I758M|MYH11_uc002ddw.2_Missense_Mutation_p.I751M|MYH11_uc002ddx.2_Missense_Mutation_p.I758M|MYH11_uc010bvg.2_Missense_Mutation_p.I583M NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 751 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CCAGGGCTTTGATCTGCAAAA 0.522 T CBFB AML 22 95 --- --- --- --- PASS ABCC1 4363 broad.mit.edu 37 16 16110447 16110447 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:16110447C>T uc010bvi.2 + 5 759 c.584C>T c.(583-585)TCA>TTA p.S195L ABCC1_uc010bvj.2_Missense_Mutation_p.S195L|ABCC1_uc010bvk.2_Missense_Mutation_p.S195L|ABCC1_uc010bvl.2_Missense_Mutation_p.S195L|ABCC1_uc010bvm.2_Missense_Mutation_p.S195L|ABCC1_uc002del.3_Missense_Mutation_p.S79L|ABCC1_uc010bvn.2_Missense_Mutation_p.S58L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 195 Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCAGATCGCTCACCCCTGTTC 0.502 166 508 --- --- --- --- PASS CLN3 1201 broad.mit.edu 37 16 28497729 28497729 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:28497729C>T uc002dpo.2 - 8 939 c.616G>A c.(616-618)GGC>AGC p.G206S uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.G128S|CLN3_uc010vcu.1_Missense_Mutation_p.G106S|CLN3_uc002dpn.2_Intron|CLN3_uc002dpm.2_Missense_Mutation_p.G152S|CLN3_uc010vcv.1_Missense_Mutation_p.G182S|CLN3_uc010byd.2_Missense_Mutation_p.G206S|CLN3_uc002dpp.2_Missense_Mutation_p.G206S|CLN3_uc002dpt.1_Missense_Mutation_p.G106S|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Missense_Mutation_p.G206S|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Missense_Mutation_p.G152S|CLN3_uc002dqa.2_Missense_Mutation_p.G257S|CLN3_uc010vcx.1_Missense_Mutation_p.G106S|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_RNA NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 206 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 GGGGAGAGGCCGGCCTGGGTG 0.687 28 21 --- --- --- --- PASS TUFM 7284 broad.mit.edu 37 16 28856350 28856350 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:28856350G>A uc002drh.2 - 4 580 c.441C>T c.(439-441)CTC>CTT p.L147L uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 144 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity ovary(1) 1 TGCAGCCGTCGAGGGGTGCAG 0.542 22 44 --- --- --- --- PASS ZNF319 57567 broad.mit.edu 37 16 58030723 58030723 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:58030723C>T uc002emx.1 - 2 2070 c.1447G>A c.(1447-1449)GAG>AAG p.E483K NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTGGCTTCTCGCGGGCCGGA 0.642 7 15 --- --- --- --- PASS B3GNT9 84752 broad.mit.edu 37 16 67184165 67184165 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:67184165G>A uc002erf.2 - 2 545 c.224C>T c.(223-225)CCG>CTG p.P75L uc002erg.1_3'UTR NM_033309 NP_171608 Q6UX72 B3GN9_HUMAN UDP-GlcNAc:betaGal 75 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 AGGCGTGGGCGGCGCCGGTGT 0.716 14 33 --- --- --- --- PASS ZFP90 146198 broad.mit.edu 37 16 68598214 68598214 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:68598214G>C uc010cff.2 + 5 1816 c.1524G>C c.(1522-1524)AGG>AGC p.R508S ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Missense_Mutation_p.R508S|ZFP90_uc002ewe.2_Missense_Mutation_p.R508S NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 508 C2H2-type 9. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) CTTTCAAAAGGAGTACAAGTT 0.418 13 67 --- --- --- --- PASS CHST4 10164 broad.mit.edu 37 16 71570713 71570713 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:71570713G>A uc002fan.2 + 2 314 c.133G>A c.(133-135)GTG>ATG p.V45M CHST4_uc002fao.2_Missense_Mutation_p.V45M NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 45 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 GCGCATGCACGTGCTGGTTCT 0.552 5 108 --- --- --- --- PASS DPEP1 1800 broad.mit.edu 37 16 89704569 89704569 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr16:89704569G>A uc010cin.2 + 11 1378 c.1175G>A c.(1174-1176)CGC>CAC p.R392H DPEP1_uc002fnr.3_Missense_Mutation_p.R392H|DPEP1_uc002fns.3_Missense_Mutation_p.R392H NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 392 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) AGCCTCCATCGCCACTGGGGG 0.657 28 57 --- --- --- --- PASS KIAA0753 9851 broad.mit.edu 37 17 6499544 6499544 + Silent SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr17:6499544G>T uc002gde.3 - 15 2651 c.2292C>A c.(2290-2292)GCC>GCA p.A764A KIAA0753_uc010vtd.1_Silent_p.A220A|KIAA0753_uc010clo.2_Silent_p.A465A|KIAA0753_uc010vte.1_Silent_p.A465A NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 764 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) CCTCAACGGTGGCTAAGGTTT 0.507 5 132 --- --- --- --- PASS RNASEK 440400 broad.mit.edu 37 17 6916010 6916010 + Nonsense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr17:6916010C>A uc002gea.2 + 1 213 c.8C>A c.(7-9)TCG>TAG p.S3* uc002gdy.1_5'Flank|C17orf49_uc002geb.3_5'UTR|C17orf49_uc002gec.2_5'UTR|C17orf49_uc002ged.2_5'Flank|C17orf49_uc002gee.2_5'Flank|C17orf49_uc010vti.1_5'Flank NM_001004333 NP_001004333 Q6P5S7 RNK_HUMAN ribonuclease kappa 3 rRNA transcription integral to membrane endoribonuclease activity 0 TTTATGGCGTCGCTCCTGTGC 0.677 12 28 --- --- --- --- PASS CD68 968 broad.mit.edu 37 17 7484226 7484226 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr17:7484226C>G uc002ghv.2 + 5 964 c.773C>G c.(772-774)TCG>TGG p.S258W CD68_uc002ghu.2_Missense_Mutation_p.S231W|MPDU1_uc010vub.1_5'Flank|MPDU1_uc002ghw.2_5'Flank|MPDU1_uc002ghx.2_5'Flank|MPDU1_uc010vuc.1_5'Flank NM_001251 NP_001242 P34810 CD68_HUMAN CD68 antigen isoform A 258 Extracellular (Potential). endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane 0 TGGACATTCTCGGCTCAGAAT 0.557 26 65 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr17:7577127C>T uc002gim.2 - 8 1005 c.811G>A c.(811-813)GAG>AAG p.E271K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 271 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> 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.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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) ACACGCACCTCAAAGCTGTTC 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 20 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11711192 11711192 + Missense_Mutation SNP A C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr17:11711192A>C uc002gne.2 + 44 8632 c.8564A>C c.(8563-8565)TAC>TCC p.Y2855S DNAH9_uc010coo.2_Missense_Mutation_p.Y2149S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2855 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGCAAAGGCTACCAGATCCAG 0.562 3 38 --- --- --- --- PASS TUBG2 27175 broad.mit.edu 37 17 40818455 40818455 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr17:40818455C>A uc010wgr.1 + 10 1367 c.1111C>A c.(1111-1113)CAC>AAC p.H371N TUBG2_uc002iaq.2_Missense_Mutation_p.H213N|TUBG2_uc002iar.2_Missense_Mutation_p.H218N|TUBG2_uc002ias.2_Missense_Mutation_p.H213N|TUBG2_uc002iap.2_Missense_Mutation_p.H218N NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 371 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) GCCCTCGGCCCACCGGGTCAG 0.607 13 169 --- --- --- --- PASS CD300A 11314 broad.mit.edu 37 17 72469886 72469886 + Silent SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr17:72469886C>G uc002jkv.2 + 2 573 c.252C>G c.(250-252)CTC>CTG p.L84L CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN leukocyte membrane antigen 84 Extracellular (Potential).|Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 CTGCAAACCTCAGCTTCACAG 0.532 3 119 --- --- --- --- PASS ENPP7 339221 broad.mit.edu 37 17 77710932 77710932 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr17:77710932C>A uc002jxa.2 + 4 1139 c.1119C>A c.(1117-1119)TTC>TTA p.F373L NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 373 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCCCTAGCTTCAGGGCGGGCC 0.607 5 104 --- --- --- --- PASS TCEB3C 162699 broad.mit.edu 37 18 44554593 44554593 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr18:44554593C>G uc010xdb.1 - 1 1857 c.1621G>C c.(1621-1623)GGA>CGA p.G541R KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 GAGAATCTTCCCTTGTAGTCT 0.443 10 680 --- --- --- --- PASS SMAD4 4089 broad.mit.edu 37 18 48604754 48604754 + Nonsense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr18:48604754G>T uc010xdp.1 + 12 2114 c.1576G>T c.(1576-1578)GAA>TAA p.E526* SMAD4_uc002lfb.3_Nonsense_Mutation_p.E371* NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 526 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2)|p.E526*(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TTGCTGGATTGAAATTCACTT 0.488 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 15 31 --- --- --- --- PASS S1PR4 8698 broad.mit.edu 37 19 3179147 3179147 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:3179147C>T uc002lxg.2 + 1 382 c.357C>T c.(355-357)TTC>TTT p.F119F NM_003775 NP_003766 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 precursor 119 Helical; Name=3; (By similarity). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|skin(1) 2 CCCAGTGGTTCCTACGGGAGG 0.697 15 89 --- --- --- --- PASS SLC25A41 284427 broad.mit.edu 37 19 6433624 6433624 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:6433624G>C uc010dus.2 - 1 167 c.81C>G c.(79-81)ATC>ATG p.I27M SLC25A41_uc010dut.2_Translation_Start_Site NM_173637 NP_775908 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 27 transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 gcggggCTTTGATGAGTAAGG 0.428 6 38 --- --- --- --- PASS S1PR5 53637 broad.mit.edu 37 19 10624743 10624743 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:10624743G>A uc002mot.1 - 2 1002 c.945C>T c.(943-945)CAC>CAT p.H315H S1PR5_uc002mou.1_Silent_p.H315H NM_030760 NP_110387 Q9H228 S1PR5_HUMAN endothelial differentiation, sphingolipid 315 Cytoplasmic (By similarity). integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|pancreas(1) 2 GCAGGAGCGCGTGGCGCAGGT 0.682 11 60 --- --- --- --- PASS ZSWIM4 65249 broad.mit.edu 37 19 13930269 13930269 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:13930269C>G uc002mxh.1 + 9 1861 c.1672C>G c.(1672-1674)CCG>GCG p.P558A ZSWIM4_uc010xng.1_Missense_Mutation_p.P481A NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 558 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GCCTCATGACCCGGACCTGGC 0.672 4 21 --- --- --- --- PASS PKN1 5585 broad.mit.edu 37 19 14580255 14580255 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:14580255C>A uc002myp.2 + 16 2247 c.2079C>A c.(2077-2079)TTC>TTA p.F693L PKN1_uc002myq.2_Missense_Mutation_p.F699L|PKN1_uc002myr.2_Missense_Mutation_p.F33L NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 693 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 ACGTGTGCTTCGTGATGGAGT 0.627 4 277 --- --- --- --- PASS SLC27A1 376497 broad.mit.edu 37 19 17581502 17581502 + Silent SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:17581502G>C uc002ngu.1 + 1 203 c.153G>C c.(151-153)GCG>GCC p.A51A SLC27A1_uc002ngt.1_5'UTR|SLC27A1_uc010xpp.1_5'UTR NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 51 Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 GCAAGACCGCGAGGCGAGACC 0.741 6 4 --- --- --- --- PASS CRTC1 23373 broad.mit.edu 37 19 18864380 18864380 + Silent SNP A G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:18864380A>G uc002nkb.3 + 6 697 c.609A>G c.(607-609)GCA>GCG p.A203A CRTC1_uc010ebv.2_Silent_p.A219A|CRTC1_uc010ebw.2_Silent_p.A68A|CRTC1_uc002nkc.3_Silent_p.A68A NM_015321 NP_056136 Q6UUV9 CRTC1_HUMAN mucoepidermoid carcinoma translocated 1 isoform 203 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1) 519 CCAAGCAAGCATGGGACACCA 0.463 57 219 --- --- --- --- PASS ZNF675 171392 broad.mit.edu 37 19 23845859 23845859 + Missense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:23845859C>A uc002nri.2 - 2 287 c.105G>T c.(103-105)GAG>GAT p.E35D NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 35 KRAB. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTCTGTAGTTCTCTAAAATCA 0.303 4 95 --- --- --- --- PASS ZNF565 147929 broad.mit.edu 37 19 36673603 36673603 + Missense_Mutation SNP T A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:36673603T>A uc002odn.2 - 5 1373 c.1265A>T c.(1264-1266)AAG>ATG p.K422M ZNF565_uc010ees.2_Missense_Mutation_p.K357M|ZNF565_uc002odo.2_Missense_Mutation_p.K422M NM_152477 NP_689690 Q8N9K5 ZN565_HUMAN zinc finger protein 565 422 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) CCCACATTCCTTACATTCGTA 0.443 11 63 --- --- --- --- PASS ZNF780A 284323 broad.mit.edu 37 19 40581535 40581535 + Missense_Mutation SNP A C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:40581535A>C uc002omy.2 - 6 1039 c.814T>G c.(814-816)TCT>GCT p.S272A ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.S272A|ZNF780A_uc010xvh.1_Missense_Mutation_p.S273A NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TTTACACCAGAATGAATACTC 0.388 3 201 --- --- --- --- PASS C19orf54 284325 broad.mit.edu 37 19 41248484 41248484 + Nonsense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:41248484G>A uc002oou.1 - 6 1030 c.910C>T c.(910-912)CAG>TAG p.Q304* C19orf54_uc002oow.1_Nonsense_Mutation_p.Q132*|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA NM_198476 NP_940878 Q5BKX5 CS054_HUMAN hypothetical protein LOC284325 304 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCCCGGACCTGGTCGTAGTCC 0.662 5 29 --- --- --- --- PASS MEGF8 1954 broad.mit.edu 37 19 42872647 42872647 + Missense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:42872647G>T uc002otl.3 + 35 6748 c.6113G>T c.(6112-6114)GGA>GTA p.G2038V MEGF8_uc002otm.3_Missense_Mutation_p.G1646V|MEGF8_uc002otn.3_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2105 Extracellular (Potential).|PSI 6. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) TGTATGGCCGGAGGCTGTGGG 0.642 6 24 --- --- --- --- PASS FBXO46 23403 broad.mit.edu 37 19 46215941 46215941 + Silent SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:46215941G>T uc002pcy.2 - 2 938 c.813C>A c.(811-813)CCC>CCA p.P271P FBXO46_uc002pcz.2_Silent_p.P271P NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN F-box protein 46 271 protein binding ovary(1)|lung(1)|breast(1) 3 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) CTGGTGCACGGGGCTCCCGGC 0.726 4 44 --- --- --- --- PASS SNRNP70 6625 broad.mit.edu 37 19 49601727 49601727 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:49601727G>C uc002pmk.2 + 5 748 c.309G>C c.(307-309)AAG>AAC p.K103N SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.K103N|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA NM_003089 NP_003080 P08621 RU17_HUMAN U1 small nuclear ribonucleoprotein 70 kDa 103 RRM. nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 ATGCCTTCAAGACTCTCTTCG 0.532 OREG0025616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 190 --- --- --- --- PASS PPFIA3 8541 broad.mit.edu 37 19 49631272 49631272 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:49631272G>A uc002pmr.2 + 2 474 c.142G>A c.(142-144)GAG>AAG p.E48K PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_5'Flank|PPFIA3_uc010yaj.1_5'Flank|PPFIA3_uc002pms.2_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 48 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GACGCTGCGCGAGGCACAGGA 0.736 8 58 --- --- --- --- PASS FCGRT 2217 broad.mit.edu 37 19 50017655 50017655 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:50017655C>T uc002poe.2 + 4 999 c.513C>T c.(511-513)GCC>GCT p.A171A FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.A171A|FCGRT_uc002pof.1_Silent_p.A76A|FCGRT_uc010yax.1_Silent_p.A171A|FCGRT_uc002poh.1_Silent_p.A31A NM_001136019 NP_001129491 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 171 Extracellular (Potential).|Alpha-2. antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity 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;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) ACAAGGCGGCCAACAAGGAGC 0.647 12 29 --- --- --- --- PASS SIGLEC8 27181 broad.mit.edu 37 19 51957955 51957955 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:51957955G>C uc002pwt.2 - 5 1198 c.1131C>G c.(1129-1131)TTC>TTG p.F377L SIGLEC8_uc010yda.1_Missense_Mutation_p.F268L|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.F284L NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 377 Helical; (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGATGATGCAGAAGGACAGGA 0.587 30 135 --- --- --- --- PASS ZNF256 10172 broad.mit.edu 37 19 58452800 58452800 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr19:58452800C>G uc002qqu.2 - 3 1611 c.1376G>C c.(1375-1377)GGA>GCA p.G459A ZNF256_uc010euj.2_Missense_Mutation_p.G306A NM_005773 NP_005764 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 459 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) TGGCCTTTCTCCTGTGTGAAC 0.398 17 50 --- --- --- --- PASS C20orf7 79133 broad.mit.edu 37 20 13782282 13782282 + Missense_Mutation SNP G C C rs149637004 TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr20:13782282G>C uc002wom.2 + 7 703 c.670G>C c.(670-672)GAC>CAC p.D224H C20orf7_uc002wol.1_3'UTR|C20orf7_uc002won.2_Missense_Mutation_p.D196H|C20orf7_uc002woo.2_RNA NM_024120 NP_077025 Q5TEU4 CT007_HUMAN hypothetical protein LOC79133 isoform 1 224 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity 0 Myeloproliferative disorder(85;0.00878) TGCTGTCAATGACCTGGGACA 0.438 7 51 --- --- --- --- PASS SPAG4 6676 broad.mit.edu 37 20 34204067 34204067 + Nonsense_Mutation SNP G T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr20:34204067G>T uc002xdb.1 + 1 259 c.142G>T c.(142-144)GAG>TAG p.E48* SPAG4_uc010zvi.1_5'UTR NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 48 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TGGGGAGCCCGAGGGCAGAAG 0.667 4 18 --- --- --- --- PASS SPAG4 6676 broad.mit.edu 37 20 34204119 34204119 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr20:34204119G>C uc002xdb.1 + 1 311 c.194G>C c.(193-195)GGA>GCA p.G65A SPAG4_uc010zvi.1_5'UTR NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 65 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TTGAGCGCGGGAGTGCCCGGA 0.716 6 8 --- --- --- --- PASS NDRG3 57446 broad.mit.edu 37 20 35312861 35312861 + Missense_Mutation SNP A G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr20:35312861A>G uc002xfw.2 - 6 420 c.338T>C c.(337-339)ATG>ACG p.M113T NDRG3_uc002xfx.2_Missense_Mutation_p.M101T|NDRG3_uc010zvq.1_Missense_Mutation_p.M18T|NDRG3_uc010zvr.1_Missense_Mutation_p.M1T NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN N-myc downstream regulated gene 3 isoform a 113 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm ovary(1) 1 Myeloproliferative disorder(115;0.00878) CAGCTCATCCATTGTGGGGTA 0.438 4 31 --- --- --- --- PASS PLTP 5360 broad.mit.edu 37 20 44538310 44538310 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr20:44538310G>A uc002xqn.1 - 5 410 c.330C>T c.(328-330)TTC>TTT p.F110F PLTP_uc002xql.1_Silent_p.F22F|PLTP_uc002xqm.1_Silent_p.F130F|PLTP_uc002xqo.1_Intron|PLTP_uc002xqp.1_Silent_p.F110F|PLTP_uc002xqq.1_Silent_p.F79F|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Silent_p.F110F NM_006227 NP_006218 P55058 PLTP_HUMAN phospholipid transfer protein isoform a 110 cellular lipid metabolic process|lipid transport extracellular region lipid binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) CCCCATCATAGCTGCCAGGGG 0.438 34 125 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51872765 51872765 + Missense_Mutation SNP A G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr20:51872765A>G uc002xwo.2 + 2 3724 c.2768A>G c.(2767-2769)CAC>CGC p.H923R NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 923 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GACAAAGGCCACCCCATCTTT 0.478 21 63 --- --- --- --- PASS PMEPA1 56937 broad.mit.edu 37 20 56227337 56227337 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr20:56227337C>T uc002xyq.2 - 4 1029 c.636G>A c.(634-636)TCG>TCA p.S212S PMEPA1_uc002xyr.2_Silent_p.S162S|PMEPA1_uc002xys.2_Silent_p.S177S|PMEPA1_uc002xyt.2_Silent_p.S162S NM_020182 NP_064567 Q969W9 PMEPA_HUMAN transmembrane prostate androgen-induced protein 212 Cytoplasmic (Potential). androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding pancreas(1) 1 CGCTGATGCCCGAGTTACTGC 0.692 13 53 --- --- --- --- PASS VAPB 9217 broad.mit.edu 37 20 57009745 57009745 + Nonsense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr20:57009745C>G uc002xza.2 + 3 570 c.299C>G c.(298-300)TCA>TGA p.S100* VAPB_uc002xzb.2_Intron|VAPB_uc010zzo.1_Intron|VAPB_uc002xzc.2_Intron NM_004738 NP_004729 O95292 VAPB_HUMAN VAMP-associated protein B/C 100 Cytoplasmic (Potential).|MSP. cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(1) 1 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) ACTGACACTTCAGATATGGAA 0.333 8 37 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57769737 57769737 + Silent SNP C T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr20:57769737C>T uc002yan.2 + 1 3663 c.3663C>T c.(3661-3663)CCC>CCT p.P1221P NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1221 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) ATGAGGGTCCCAATGGCCCTC 0.632 8 32 --- --- --- --- PASS ITSN1 6453 broad.mit.edu 37 21 35127600 35127600 + Splice_Site SNP A T T TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr21:35127600A>T uc002yta.1 + 8 892 c.624_splice c.e8-2 p.S208_splice DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Splice_Site|ITSN1_uc002ysz.2_Splice_Site_p.S208_splice|ITSN1_uc010gmg.2_Splice_Site_p.S171_splice|ITSN1_uc010gmh.2_Splice_Site|ITSN1_uc002ysw.2_Splice_Site_p.S208_splice|ITSN1_uc010gmi.2_Splice_Site_p.S171_splice|ITSN1_uc010gmj.2_Splice_Site_p.S92_splice|ITSN1_uc002ysy.2_Splice_Site_p.S208_splice|ITSN1_uc002ysx.2_Splice_Site_p.S171_splice|ITSN1_uc002ytb.1_Splice_Site_p.S208_splice|ITSN1_uc002ytc.1_Splice_Site_p.S208_splice|ITSN1_uc002ytd.2_Splice_Site|ITSN1_uc010gmk.2_Splice_Site_p.S171_splice|ITSN1_uc010gml.2_Splice_Site|ITSN1_uc002ytj.2_Splice_Site_p.S208_splice|ITSN1_uc010gmm.1_Splice_Site|ITSN1_uc002yte.2_Splice_Site_p.S142_splice NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 TTTTCCCCACAGTGTCCCACC 0.403 6 14 --- --- --- --- PASS CLTCL1 8218 broad.mit.edu 37 22 19197964 19197964 + Missense_Mutation SNP T A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr22:19197964T>A uc002zpb.2 - 20 3196 c.3121A>T c.(3121-3123)ATG>TTG p.M1041L CLTCL1_uc011agv.1_Missense_Mutation_p.M1041L|CLTCL1_uc011agw.1_Missense_Mutation_p.M1041L|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpe.2_Missense_Mutation_p.M1L|CLTCL1_uc002zpd.1_Missense_Mutation_p.M1L NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1041 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) ATGTACTCCATGACCCGTGTG 0.562 T ? ALCL 13 46 --- --- --- --- PASS SFI1 9814 broad.mit.edu 37 22 32011205 32011205 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr22:32011205G>A uc003ale.2 + 29 3633 c.3240G>A c.(3238-3240)CCG>CCA p.P1080P SFI1_uc003alf.2_Silent_p.P1049P|SFI1_uc003alg.2_Silent_p.P998P|SFI1_uc011alp.1_Silent_p.P986P|SFI1_uc011alq.1_Silent_p.P1025P|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Silent_p.P172P|SFI1_uc003alj.2_Silent_p.P214P NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 1080 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 GCACAGGCCCGGAGCTGCTGC 0.711 10 19 --- --- --- --- PASS PICK1 9463 broad.mit.edu 37 22 38469093 38469093 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr22:38469093G>A uc003auq.2 + 10 1167 c.777G>A c.(775-777)GAG>GAA p.E259E PICK1_uc003aur.2_Silent_p.E259E|PICK1_uc003aus.2_Silent_p.E259E|PICK1_uc003aut.2_Silent_p.E259E NM_012407 NP_036539 Q9NRD5 PICK1_HUMAN protein interacting with C kinase 1 259 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding 0 Melanoma(58;0.045) TGAAGTTTGAGTACCTGGTGA 0.597 37 84 --- --- --- --- PASS SYNGR1 9145 broad.mit.edu 37 22 39777839 39777839 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr22:39777839G>A uc003axq.3 + 4 684 c.622G>A c.(622-624)GCC>ACC p.A208T TAB1_uc003axr.2_Intron NM_004711 NP_004702 O43759 SNG1_HUMAN synaptogyrin 1 isoform 1a 208 regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity cell junction|integral to plasma membrane|melanosome 0 Melanoma(58;0.04) GCCGGATCCCGCCGGTATGGG 0.687 13 25 --- --- --- --- PASS SMCR7L 54471 broad.mit.edu 37 22 39908484 39908484 + Silent SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr22:39908484C>G uc003axx.2 + 5 1068 c.570C>G c.(568-570)CTC>CTG p.L190L SMCR7L_uc003axw.2_Silent_p.L190L|SMCR7L_uc010gxz.1_Silent_p.L12L|SMCR7L_uc003axy.2_Silent_p.L12L NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN hypothetical protein LOC54471 190 integral to membrane|mitochondrion central_nervous_system(1) 1 Melanoma(58;0.04) GTGGCAGCCTCTACGATGACC 0.572 16 70 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 40061891 40061891 + Missense_Mutation SNP C G G TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr22:40061891C>G uc003ayc.2 + 23 3984 c.3984C>G c.(3982-3984)TTC>TTG p.F1328L CACNA1I_uc003ayd.2_Missense_Mutation_p.F1293L|CACNA1I_uc003aye.2_Missense_Mutation_p.F1243L|CACNA1I_uc003ayf.2_Missense_Mutation_p.F1208L NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1328 Extracellular (Potential).|III. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCCAGCTCTTCAAGGGCAAGT 0.567 39 147 --- --- --- --- PASS SMC1B 27127 broad.mit.edu 37 22 45789624 45789624 + Missense_Mutation SNP G C C TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr22:45789624G>C uc003bgc.2 - 9 1487 c.1435C>G c.(1435-1437)CTT>GTT p.L479V SMC1B_uc003bgd.2_Missense_Mutation_p.L479V|SMC1B_uc003bge.1_Missense_Mutation_p.L262V NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 479 Potential. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTTCTAATAAGATTCAATTCT 0.373 17 53 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46859695 46859695 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr22:46859695G>A uc003bhw.1 - 2 4092 c.4092C>T c.(4090-4092)ATC>ATT p.I1364I NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1364 Extracellular (Potential).|EGF-like 2; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGCAGAGGTCGATCTCCGTCT 0.697 8 20 --- --- --- --- PASS RBBP7 5931 broad.mit.edu 37 X 16881153 16881153 + Silent SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chrX:16881153G>A uc004cxt.2 - 3 590 c.232C>T c.(232-234)CTG>TTG p.L78L RBBP7_uc004cxs.1_Silent_p.L122L|RBBP7_uc004cxu.2_Silent_p.L78L NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 78 WD 1. cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) GCAACCACCAGATGATTCTGC 0.408 19 31 --- --- --- --- PASS SPANXN5 494197 broad.mit.edu 37 X 52825601 52825601 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chrX:52825601G>A uc004drc.1 - 2 146 c.146C>T c.(145-147)TCA>TTA p.S49L NM_001009616 NP_001009616 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 49 0 Ovarian(276;0.236) TAATACTGTTGAATATTCTGA 0.413 4 36 --- --- --- --- PASS NSDHL 50814 broad.mit.edu 37 X 152037559 152037559 + Missense_Mutation SNP G A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chrX:152037559G>A uc004fgt.1 + 9 1282 c.1021G>A c.(1021-1023)GAG>AAG p.E341K NSDHL_uc004fgs.1_Missense_Mutation_p.E341K NM_001129765 NP_001123237 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 341 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity 0 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) CTACAGCTGCGAGAGAGCCAA 0.582 17 24 --- --- --- --- PASS DUSP9 1852 broad.mit.edu 37 X 152915069 152915069 + Nonsense_Mutation SNP C A A TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chrX:152915069C>A uc004fhx.3 + 3 960 c.756C>A c.(754-756)TAC>TAA p.Y252* DUSP9_uc004fhy.3_Nonsense_Mutation_p.Y252* NM_001395 NP_001386 Q99956 DUS9_HUMAN dual specificity phosphatase 9 252 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACTTTCACTACAAGCAGATCC 0.557 9 232 --- --- --- --- PASS NRG2 9542 broad.mit.edu 37 5 139422532 139422534 + In_Frame_Del DEL GCT - - TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr5:139422532_139422534delGCT uc003lex.1 - 1 346_348 c.121_123delAGC c.(121-123)AGCdel p.S41del NRG2_uc003lev.1_In_Frame_Del_p.S41del|NRG2_uc003lew.1_In_Frame_Del_p.S41del|NRG2_uc003ley.1_In_Frame_Del_p.S41del NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 41 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgccgctctcgctgctgctgctg 0.291 6 3 --- --- --- --- TRAF3 7187 broad.mit.edu 37 14 103372057 103372063 + Frame_Shift_Del DEL ATATTAA - - TCGA-33-4547-01A-01D-1267-08 TCGA-33-4547-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7e622fc2-06c5-4686-a885-e407725c2f08 4bd53437-8c85-40cb-8f40-2eef0244a539 g.chr14:103372057_103372063delATATTAA uc001ymc.1 + 12 1996_2002 c.1643_1649delATATTAA c.(1642-1650)TATATTAAAfs p.Y548fs TRAF3_uc001yme.1_Frame_Shift_Del_p.Y523fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.Y548fs|TRAF3_uc010txy.1_Frame_Shift_Del_p.Y465fs NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 548_550 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) AATGGGACATATATTAAAGATGATACA 0.459 71 63 --- --- --- ---