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 ARHGEF16 27237 broad.mit.edu 37 1 3390011 3390011 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:3390011G>T uc001akg.3 + 8 1478 c.1230G>T c.(1228-1230)GCG>GCT p.A410A ARHGEF16_uc001aki.2_Silent_p.A122A|ARHGEF16_uc001akj.2_Silent_p.A122A|ARHGEF16_uc009vli.1_Silent_p.A114A|ARHGEF16_uc010nzh.1_Silent_p.A114A NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 410 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GGCGGCCGGCGTGCGGGGGCC 0.662 6 30 --- --- --- --- PASS CASZ1 54897 broad.mit.edu 37 1 10715789 10715789 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:10715789G>A uc001aro.2 - 9 1902 c.1582C>T c.(1582-1584)CGT>TGT p.R528C CASZ1_uc001arp.1_Missense_Mutation_p.R528C|CASZ1_uc009vmx.2_Missense_Mutation_p.R552C NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 528 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGGCTGAAACGCATGAAGCCG 0.607 6 46 --- --- --- --- PASS FBLIM1 54751 broad.mit.edu 37 1 16101265 16101265 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:16101265G>T uc001axd.1 + 8 1307 c.864G>T c.(862-864)GAG>GAT p.E288D FBLIM1_uc001axe.1_Missense_Mutation_p.E288D|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.E288D|FBLIM1_uc001axh.1_Missense_Mutation_p.E191D|FBLIM1_uc001axi.1_Missense_Mutation_p.E191D NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN filamin-binding LIM protein-1 isoform a 288 PLEKHC1-binding.|LIM zinc-binding 2. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding skin(1) 1 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) GCCAGAACGAGGTGTACTGCC 0.632 8 108 --- --- --- --- PASS NBPF1 55672 broad.mit.edu 37 1 16907280 16907280 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:16907280G>T uc009vos.1 - 16 2439 c.1551C>A c.(1549-1551)TCC>TCA p.S517S NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Silent_p.S246S NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 517 NBPF 2. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CATCATGAGAGGATTCTCTGT 0.453 15 740 --- --- --- --- PASS PADI1 29943 broad.mit.edu 37 1 17566199 17566199 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:17566199G>T uc001bah.1 + 14 1645 c.1553G>T c.(1552-1554)GGG>GTG p.G518V PADI1_uc010oco.1_Missense_Mutation_p.G75V|PADI1_uc010ocp.1_Missense_Mutation_p.G75V|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'UTR NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 518 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CTTCTTGCAGGGTTAAAACAC 0.522 6 62 --- --- --- --- PASS ACTL8 81569 broad.mit.edu 37 1 18152822 18152822 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:18152822C>A uc001bat.2 + 3 1125 c.909C>A c.(907-909)CTC>CTA p.L303L NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 303 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GCAACACCCTCTATCCCGGGT 0.612 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 51 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21009181 21009181 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:21009181C>T uc001bdr.3 - 11 2546 c.2428G>A c.(2428-2430)GCC>ACC p.A810T KIF17_uc001bdp.3_Missense_Mutation_p.A88T|KIF17_uc001bdq.3_Missense_Mutation_p.A88T|KIF17_uc009vpx.2_Missense_Mutation_p.A180T|KIF17_uc001bds.3_Missense_Mutation_p.A810T NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 810 Potential. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TTGCTCTTGGCCCGCACTTCC 0.637 6 79 --- --- --- --- PASS USP48 84196 broad.mit.edu 37 1 22079485 22079485 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:22079485C>A uc001bfb.2 - 4 778 c.540G>T c.(538-540)CAG>CAT p.Q180H USP48_uc010odq.1_Missense_Mutation_p.Q180H|USP48_uc009vqc.2_Missense_Mutation_p.Q180H|USP48_uc001bfc.2_Missense_Mutation_p.Q180H|USP48_uc001bfe.1_Missense_Mutation_p.Q180H|USP48_uc001bff.2_Missense_Mutation_p.Q180H NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 180 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CAGTTCTTACCTGCTGTTGTC 0.353 9 24 --- --- --- --- PASS S100PBP 64766 broad.mit.edu 37 1 33291859 33291859 + Silent SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:33291859C>T uc001bvz.2 + 3 436 c.159C>T c.(157-159)TAC>TAT p.Y53Y S100PBP_uc001bwa.1_Silent_p.Y53Y|S100PBP_uc001bwb.1_Silent_p.Y53Y|S100PBP_uc001bwc.2_Silent_p.Y53Y|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 53 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) ATGTAAATTACACAGAGGAAG 0.473 7 58 --- --- --- --- PASS THRAP3 9967 broad.mit.edu 37 1 36755023 36755023 + Nonsense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:36755023C>A uc001cae.3 + 5 1627 c.1403C>A c.(1402-1404)TCA>TAA p.S468* THRAP3_uc001caf.3_Nonsense_Mutation_p.S468*|THRAP3_uc001cag.1_Nonsense_Mutation_p.S468* NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 468 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(5)|lung(3)|breast(1) 9 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGGAGAAGTCAGGCAAATGG 0.453 T USP6 aneurysmal bone cysts 14 61 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39801599 39801599 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:39801599C>A uc010oiu.1 + 1 4790 c.4659C>A c.(4657-4659)CAC>CAA p.H1553Q MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3118 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAGGATTGCACTACCAGGAAT 0.468 4 72 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 42048104 42048104 + Missense_Mutation SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:42048104C>G uc001cgz.3 - 4 3578 c.2365G>C c.(2365-2367)GAG>CAG p.E789Q HIVEP3_uc001cha.3_Missense_Mutation_p.E789Q|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 789 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GTTCTCCTCTCCTTCCCTGAT 0.542 11 43 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43782880 43782880 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:43782880C>T uc001ciu.2 + 15 2499 c.2420C>T c.(2419-2421)ACC>ATC p.T807I TIE1_uc010oke.1_Missense_Mutation_p.T762I|TIE1_uc009vwq.2_Missense_Mutation_p.T763I|TIE1_uc010okg.1_Missense_Mutation_p.T452I NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 807 Cytoplasmic (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGCGAGGAGACCATCCTGCAG 0.607 5 48 --- --- --- --- PASS STIL 6491 broad.mit.edu 37 1 47717149 47717149 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:47717149G>T uc001crc.1 - 17 3678 c.3523C>A c.(3523-3525)CAT>AAT p.H1175N TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.H1129N|STIL_uc010omo.1_Missense_Mutation_p.H1158N|STIL_uc001crd.1_Missense_Mutation_p.H1176N|STIL_uc001cre.1_Missense_Mutation_p.H1175N NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 1175 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ATTATTTCATGGTCATTCTTA 0.383 6 91 --- --- --- --- PASS LRP8 7804 broad.mit.edu 37 1 53728158 53728158 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:53728158C>A uc001cvi.1 - 11 1876 c.1734G>T c.(1732-1734)CTG>CTT p.L578L LRP8_uc001cvh.1_Silent_p.L131L|LRP8_uc001cvk.1_Silent_p.L408L|LRP8_uc001cvj.1_Silent_p.L578L|LRP8_uc001cvl.1_Silent_p.L449L|LRP8_uc001cvm.1_Silent_p.L163L NM_004631 NP_004622 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 578 LDL-receptor class B 3.|Extracellular (Potential). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity 0 TGTCTGACACCAGTGTTTGCC 0.512 10 236 --- --- --- --- PASS C8B 732 broad.mit.edu 37 1 57409428 57409428 + Missense_Mutation SNP A T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:57409428A>T uc001cyp.2 - 8 1242 c.1175T>A c.(1174-1176)GTC>GAC p.V392D C8B_uc010oon.1_Missense_Mutation_p.V330D|C8B_uc010ooo.1_Missense_Mutation_p.V340D NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 392 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 ACTGACGTAGACCTCTTCAAT 0.408 13 85 --- --- --- --- PASS PHGDH 26227 broad.mit.edu 37 1 120263815 120263815 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:120263815G>C uc001ehz.2 + 2 388 c.161G>C c.(160-162)CGC>CCC p.R54P PHGDH_uc009whl.2_5'UTR|PHGDH_uc009whm.2_5'UTR|PHGDH_uc001eia.2_Missense_Mutation_p.R54P|PHGDH_uc009whn.2_Missense_Mutation_p.R54P|PHGDH_uc001eib.2_Missense_Mutation_p.R20P NM_006623 NP_006614 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 54 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity ovary(1) 1 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) CTTATTGTTCGCTCTGCCACC 0.522 22 81 --- --- --- --- PASS ANKRD35 148741 broad.mit.edu 37 1 145561622 145561622 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:145561622G>T uc001eob.1 + 10 1418 c.1310G>T c.(1309-1311)AGG>ATG p.R437M NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R280M NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 437 ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAGACCATCAGGAAAGCCACA 0.572 6 85 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152128552 152128552 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:152128552G>T uc001ezs.1 - 3 1088 c.1023C>A c.(1021-1023)TCC>TCA p.S341S NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 341 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 GACCATAGTGGGAACTCTGAC 0.498 12 476 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152285911 152285911 + Missense_Mutation SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:152285911C>G uc001ezu.1 - 3 1487 c.1451G>C c.(1450-1452)CGG>CCG p.R484P uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 484 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGTCCCGGTCCGTCCATGGGC 0.607 Ichthyosis 37 201 --- --- --- --- PASS LCE3D 84648 broad.mit.edu 37 1 152552178 152552178 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:152552178C>A uc001fab.2 - 2 292 c.235G>T c.(235-237)GGC>TGC p.G79C NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 79 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GAGCCCCCGCCTTGCTGACCA 0.647 9 49 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155448861 155448861 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:155448861C>A uc009wqq.2 - 3 4280 c.3800G>T c.(3799-3801)AGG>ATG p.R1267M ASH1L_uc001fkt.2_Missense_Mutation_p.R1267M|ASH1L_uc009wqr.1_Missense_Mutation_p.R1267M NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1267 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCGTTTCTGCCTTTTCATCTT 0.408 27 108 --- --- --- --- PASS KIRREL 55243 broad.mit.edu 37 1 158057651 158057651 + Splice_Site SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:158057651G>C uc001frn.3 + 6 1171 c.767_splice c.e6+1 p.R256_splice KIRREL_uc010pib.1_Splice_Site_p.R156_splice|KIRREL_uc009wsq.2_Splice_Site_p.R92_splice|KIRREL_uc001fro.3_Splice_Site_p.R54_splice NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor integral to membrane ovary(1) 1 all_hematologic(112;0.0378) TGGGCTACAGGTGAGGGGGTC 0.587 OREG0013906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 23 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158815425 158815425 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:158815425C>T uc001fsz.1 + 5 819 c.619C>T c.(619-621)CCC>TCC p.P207S NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 207 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) AAGAAATGTTCCCCAAAACGA 0.443 6 40 --- --- --- --- PASS MYOC 4653 broad.mit.edu 37 1 171621186 171621186 + Missense_Mutation SNP C A A rs144579767 TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:171621186C>A uc001ghu.2 - 1 588 c.566G>T c.(565-567)CGA>CTA p.R189L MYOC_uc010pmk.1_Missense_Mutation_p.R131L NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 189 R -> Q. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGCAGTGTCTCGGGTCTGGGG 0.567 52 164 --- --- --- --- PASS MRPS14 63931 broad.mit.edu 37 1 174987652 174987652 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:174987652G>T uc001gkk.2 - 2 123 c.106C>A c.(106-108)CGC>AGC p.R36S MRPS14_uc009wwr.2_Missense_Mutation_p.R21S NM_022100 NP_071383 O60783 RT14_HUMAN mitochondrial ribosomal protein S14 36 translation mitochondrial ribosome protein binding|structural constituent of ribosome 0 TTCACATCGCGCCACATTCTC 0.443 4 61 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175053048 175053048 + Missense_Mutation SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:175053048C>G uc001gkl.1 + 5 1324 c.1211C>G c.(1210-1212)CCC>CGC p.P404R TNN_uc010pmx.1_Missense_Mutation_p.P404R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 404 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGCAGTGACCCCAAGAGCCGA 0.542 9 37 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 177001635 177001635 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:177001635G>T uc001glc.2 - 3 1034 c.822C>A c.(820-822)TCC>TCA p.S274S ASTN1_uc001glb.1_Silent_p.S274S|ASTN1_uc001gld.1_Silent_p.S274S|ASTN1_uc009wwx.1_Silent_p.S274S|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 274 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 AGCCCTGCAGGGAGTCGAGGG 0.587 6 75 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186147831 186147831 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:186147831C>A uc001grq.1 + 104 16456 c.16227C>A c.(16225-16227)TCC>TCA p.S5409S HMCN1_uc001grs.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5409 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CATCTCTCTCCAGGACTAGAA 0.438 6 100 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196871656 196871656 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:196871656G>T uc001gto.2 + 2 236 c.167G>T c.(166-168)TGT>TTT p.C56F CFHR4_uc009wyy.2_Missense_Mutation_p.C55F|CFHR4_uc001gtp.2_Missense_Mutation_p.C56F NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 56 Sushi 1. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 TCCTATTACTGTGATCAAAAT 0.403 4 43 --- --- --- --- PASS PIK3C2B 5287 broad.mit.edu 37 1 204433648 204433648 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:204433648C>A uc001haw.2 - 5 1598 c.1119G>T c.(1117-1119)GGG>GGT p.G373G PIK3C2B_uc010pqv.1_Silent_p.G373G|PIK3C2B_uc001hax.1_Silent_p.G373G|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 373 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TGACCTCATCCCCGAGGTGCT 0.527 16 77 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207643415 207643415 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:207643415C>A uc001hfw.2 + 6 1287 c.1193C>A c.(1192-1194)ACA>AAA p.T398K CR2_uc001hfv.2_Missense_Mutation_p.T398K|CR2_uc009xch.2_Missense_Mutation_p.T398K|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 398 Sushi 6.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GCCCAAGGCACATGGGAGCCA 0.458 8 28 --- --- --- --- PASS TATDN3 128387 broad.mit.edu 37 1 212988413 212988413 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:212988413G>T uc001hjo.2 + 10 834 c.740G>T c.(739-741)GGG>GTG p.G247V TATDN3_uc010ptj.1_3'UTR|TATDN3_uc010ptk.1_Missense_Mutation_p.G254V|TATDN3_uc001hjp.2_Missense_Mutation_p.G246V|TATDN3_uc010ptl.1_Missense_Mutation_p.G226V|TATDN3_uc010ptm.1_Missense_Mutation_p.G194V NM_001042552 NP_001036017 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 isoform 1 247 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) CAGGTGAAAGGGATCTCAGTG 0.423 7 98 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237666802 237666802 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:237666802C>A uc001hyl.1 + 22 2730 c.2610C>A c.(2608-2610)AGC>AGA p.S870R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 870 Cytoplasmic (By similarity).|1.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGATACCAGCCAGGTACCAA 0.418 18 66 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237670108 237670108 + Silent SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:237670108T>C uc001hyl.1 + 23 2832 c.2712T>C c.(2710-2712)TAT>TAC p.Y904Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 904 Cytoplasmic (By similarity).|1.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCTGGCAGTATGGTCCGGTAT 0.373 14 48 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237813369 237813369 + Missense_Mutation SNP A T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:237813369A>T uc001hyl.1 + 50 7825 c.7705A>T c.(7705-7707)ATA>TTA p.I2569L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2569 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCGGGATTCCATAGAAGTTTG 0.398 16 86 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247768907 247768907 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:247768907G>T uc010pyz.1 + 1 20 c.20G>T c.(19-21)AGT>ATT p.S7I NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGCAATGAGAGTTCCCTAATG 0.463 5 27 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248039414 248039414 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr1:248039414G>T uc001ido.2 + 6 1132 c.1084G>T c.(1084-1086)GTC>TTC p.V362F OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 362 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGGTTTAGGGGTCTGTCAAGA 0.552 6 26 --- --- --- --- PASS YIPF4 84272 broad.mit.edu 37 2 32526505 32526505 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:32526505G>C uc002rok.2 + 5 805 c.538G>C c.(538-540)GTA>CTA p.V180L NM_032312 NP_115688 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 180 Helical; (Potential). endoplasmic reticulum|integral to membrane protein binding 0 Acute lymphoblastic leukemia(172;0.155) TCCTCTCATTGTAATAGCCCC 0.318 18 57 --- --- --- --- PASS TTC27 55622 broad.mit.edu 37 2 32855589 32855589 + Splice_Site SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:32855589G>T uc002rom.2 + 2 320 c.89_splice c.e2-1 p.E30_splice TTC27_uc010ymx.1_Splice_Site NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 protein binding central_nervous_system(1) 1 TTATATTACAGAGAGTGGATC 0.303 8 36 --- --- --- --- PASS C2orf61 285051 broad.mit.edu 37 2 47378423 47378423 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:47378423G>C uc002rvs.2 - 3 500 c.373C>G c.(373-375)CCC>GCC p.P125A C2orf61_uc010fbd.2_RNA|C2orf61_uc010yog.1_Missense_Mutation_p.P125A NM_173649 NP_775920 Q8N801 CB061_HUMAN hypothetical protein LOC285051 isoform 2 125 p.0?(2) 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) AGTGTGCTGGGGCTTGGCCGT 0.453 8 57 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80529786 80529786 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:80529786G>A uc002sok.1 - 2 1429 c.1159C>T c.(1159-1161)CCT>TCT p.P387S CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 387 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GAGCTGGCAGGGGGCCCCAGA 0.726 HNSCC(69;0.2) 7 11 --- --- --- --- PASS EIF2AK3 9451 broad.mit.edu 37 2 88874860 88874860 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:88874860G>T uc002stc.3 - 13 2343 c.2141C>A c.(2140-2142)CCT>CAT p.P714H NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 714 Cytoplasmic (Potential).|Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TTGTGGTGAAGGAGCTATGAT 0.453 7 117 --- --- --- --- PASS BUB1 699 broad.mit.edu 37 2 111398613 111398613 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:111398613G>T uc002tgc.2 - 23 3065 c.2953C>A c.(2953-2955)CAG>AAG p.Q985K BUB1_uc010yxh.1_Missense_Mutation_p.Q965K|BUB1_uc010fkb.2_Missense_Mutation_p.Q928K NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 985 Protein kinase. 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) TTTTATACCTGGTAGTTCCAT 0.368 5 49 --- --- --- --- PASS INHBB 3625 broad.mit.edu 37 2 121106938 121106938 + Missense_Mutation SNP T G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:121106938T>G uc002tmn.2 + 2 758 c.712T>G c.(712-714)TTG>GTG p.L238V NM_002193 NP_002184 P09529 INHBB_HUMAN inhibin beta B subunit preproprotein 238 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity pancreas(2)|skin(1) 3 Prostate(154;0.122) CATCCAGGCCTTGTTTGAGCG 0.647 7 82 --- --- --- --- PASS GLI2 2736 broad.mit.edu 37 2 121742113 121742113 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:121742113C>A uc010flp.2 + 11 1780 c.1750C>A c.(1750-1752)CAT>AAT p.H584N GLI2_uc002tmq.1_Missense_Mutation_p.H256N|GLI2_uc002tmr.1_Missense_Mutation_p.H239N|GLI2_uc002tmt.3_Missense_Mutation_p.H256N|GLI2_uc002tmu.3_Missense_Mutation_p.H239N|GLI2_uc002tmw.1_Missense_Mutation_p.H567N NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 584 C2H2-type 5. axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) TCTCCGGAAGCATGTGAAAAC 0.572 20 199 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155158018 155158018 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:155158018G>T uc002tyr.3 + 9 1639 c.1072G>T c.(1072-1074)GGT>TGT p.G358C GALNT13_uc002tyt.3_Missense_Mutation_p.G358C|GALNT13_uc010foc.1_Missense_Mutation_p.G177C|GALNT13_uc010fod.2_Missense_Mutation_p.G111C NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 358 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TGGTGGCACTGGTCATGTCAT 0.438 7 85 --- --- --- --- PASS GPD2 2820 broad.mit.edu 37 2 157425354 157425354 + Silent SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:157425354C>T uc002tzf.3 + 10 1543 c.1183C>T c.(1183-1185)CTG>TTG p.L395L GPD2_uc010zch.1_Silent_p.L168L|GPD2_uc002tzd.3_Silent_p.L395L|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 395 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 AGGGGATGTCCTGGCAGCATG 0.398 8 34 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168097247 168097247 + Splice_Site SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:168097247G>A uc002udx.2 + 6 1060 c.1042_splice c.e6+1 p.V348_splice XIRP2_uc010fpn.2_Splice_Site_p.V381_splice|XIRP2_uc010fpo.2_Splice_Site_p.V348_splice|XIRP2_uc010fpp.2_Splice_Site_p.V348_splice|XIRP2_uc002udy.2_Splice_Site_p.V173_splice|XIRP2_uc010fpq.2_Splice_Site_p.V126_splice|XIRP2_uc010fpr.2_Splice_Site_p.V126_splice NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAAGAAACTGGTAAGAGTCTG 0.373 5 48 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170030452 170030452 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:170030452G>T uc002ues.2 - 56 11204 c.10991C>A c.(10990-10992)TCG>TAG p.S3664* NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3664 LDL-receptor class A 29.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGGCTCATCCGAGTGGTCTCC 0.577 5 69 --- --- --- --- PASS HJURP 55355 broad.mit.edu 37 2 234762542 234762542 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:234762542G>C uc002vvg.2 - 2 198 c.132C>G c.(130-132)TTC>TTG p.F44L HJURP_uc010znd.1_Missense_Mutation_p.F37L|HJURP_uc010zne.1_Missense_Mutation_p.F37L NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 44 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GGGTGTCCTCGAAGGGCTGGT 0.642 4 69 --- --- --- --- PASS FARP2 9855 broad.mit.edu 37 2 242373648 242373648 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr2:242373648G>T uc002wbi.1 + 10 1060 c.943G>T c.(943-945)GAG>TAG p.E315* FARP2_uc010zoq.1_Nonsense_Mutation_p.E315*|FARP2_uc010zor.1_Nonsense_Mutation_p.E315* NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 315 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GATTTGTGTGGAGTATCACAC 0.428 6 74 --- --- --- --- PASS EDEM1 9695 broad.mit.edu 37 3 5249922 5249922 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:5249922G>T uc003bqi.2 + 8 1615 c.1483G>T c.(1483-1485)GTG>TTG p.V495L EDEM1_uc011asz.1_Missense_Mutation_p.V273L|EDEM1_uc003bqh.2_Missense_Mutation_p.V495L NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 495 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) ACCAGAGTTAGTGGAATCCAC 0.463 17 37 --- --- --- --- PASS SH3BP5 9467 broad.mit.edu 37 3 15301308 15301308 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:15301308G>T uc003bzp.1 - 6 818 c.629C>A c.(628-630)CCT>CAT p.P210H SH3BP5_uc010hem.1_Intron|SH3BP5_uc003bzq.1_Missense_Mutation_p.P53H|SH3BP5_uc003bzr.1_Missense_Mutation_p.P53H|uc003bzo.1_RNA NM_004844 NP_004835 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 210 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding 0 TTCAAAATAAGGCCTGCAGAA 0.448 9 164 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38805039 38805039 + Silent SNP T G G rs150977149 byFrequency TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:38805039T>G uc003ciq.2 - 5 648 c.648A>C c.(646-648)ACA>ACC p.T216T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 216 I.|Helical; Voltage-sensor; Name=S4 of repeat I; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GAACTCTGAATGTCCGCAGGC 0.403 11 54 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48664368 48664368 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:48664368T>C uc003cuf.1 - 53 12172 c.12172A>G c.(12172-12174)ATC>GTC p.I4058V SLC26A6_uc003cug.2_Missense_Mutation_p.I651V|SLC26A6_uc003cuh.2_Missense_Mutation_p.I672V|SLC26A6_uc010hke.2_Missense_Mutation_p.I504V|SLC26A6_uc003cuk.2_Missense_Mutation_p.I564V|SLC26A6_uc003cui.2_Missense_Mutation_p.I671V|SLC26A6_uc003cuj.2_Missense_Mutation_p.I653V|SLC26A6_uc011bbp.1_Missense_Mutation_p.I636V NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGTCCAGGATGAGGCTGTGG 0.597 10 50 --- --- --- --- PASS IQCF2 389123 broad.mit.edu 37 3 51895936 51895936 + Silent SNP A C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:51895936A>C uc003dbt.1 + 2 119 c.81A>C c.(79-81)ACA>ACC p.T27T IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA NM_203424 NP_982248 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 27 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AATGGAAGACATTGCAGAAGA 0.328 10 43 --- --- --- --- PASS GNL3 26354 broad.mit.edu 37 3 52724612 52724612 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:52724612G>T uc003dfd.2 + 7 719 c.546G>T c.(544-546)CTG>CTT p.L182L GNL3_uc011beh.1_RNA|GNL3_uc003dfe.2_Silent_p.L170L|GNL3_uc003dff.2_Silent_p.L170L|SNORD19B_uc010hml.1_5'Flank|SNORD69_uc003dfh.1_5'Flank NM_014366 NP_055181 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 182 regulation of cell proliferation nucleolus GTP binding|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) TATCAGATCTGGTACCAAAGG 0.254 8 284 --- --- --- --- PASS CACNA2D3 55799 broad.mit.edu 37 3 54905622 54905622 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:54905622G>T uc003dhf.2 + 18 1731 c.1683G>T c.(1681-1683)GAG>GAT p.E561D CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E467D|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E295D NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 561 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACCTCTCTGAGGTGGAGTGGG 0.473 6 86 --- --- --- --- PASS C3orf63 23272 broad.mit.edu 37 3 56661628 56661628 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:56661628G>T uc003did.3 - 19 3930 c.3829C>A c.(3829-3831)CCA>ACA p.P1277T C3orf63_uc003dib.3_Missense_Mutation_p.P396T|C3orf63_uc003dic.3_Missense_Mutation_p.P901T|C3orf63_uc003die.3_Missense_Mutation_p.P1338T NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 1338 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) ACAACCTCTGGGTTTAGAATT 0.353 5 49 --- --- --- --- PASS DZIP3 9666 broad.mit.edu 37 3 108373066 108373066 + Missense_Mutation SNP A T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:108373066A>T uc003dxd.2 + 19 2530 c.2108A>T c.(2107-2109)AAA>ATA p.K703I DZIP3_uc003dxf.1_Missense_Mutation_p.K703I|DZIP3_uc011bhm.1_Missense_Mutation_p.K154I|DZIP3_uc003dxg.1_Missense_Mutation_p.K426I NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 703 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AGACTTATAAAAGATGATGCA 0.403 11 37 --- --- --- --- PASS SLC35A5 55032 broad.mit.edu 37 3 112300035 112300035 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:112300035G>T uc003dze.2 + 6 1316 c.1071G>T c.(1069-1071)CTG>CTT p.L357L NM_017945 NP_060415 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 357 Helical; (Potential). Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 GGCCCTCCCTGGAATTTTTCT 0.458 5 31 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112357818 112357818 + Missense_Mutation SNP T A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:112357818T>A uc003dzf.2 - 2 1153 c.935A>T c.(934-936)AAA>ATA p.K312I CCDC80_uc011bhv.1_Missense_Mutation_p.K312I|CCDC80_uc003dzg.2_Missense_Mutation_p.K312I|CCDC80_uc003dzh.1_Missense_Mutation_p.K312I NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 312 ovary(2) 2 TGGGTCCTCTTTCTTCTTCTC 0.607 21 62 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121206859 121206859 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:121206859G>T uc003eee.3 - 16 5048 c.4919C>A c.(4918-4920)CCA>CAA p.P1640Q POLQ_uc003eed.2_Missense_Mutation_p.P812Q NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1640 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TTGCAGTCCTGGACTTAGATC 0.348 DNA_polymerases_(catalytic_subunits) 6 90 --- --- --- --- PASS SEMA5B 54437 broad.mit.edu 37 3 122641184 122641184 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:122641184C>A uc003efz.1 - 11 1687 c.1383G>T c.(1381-1383)GAG>GAT p.E461D SEMA5B_uc011bju.1_Missense_Mutation_p.E403D|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E461D|SEMA5B_uc010hro.1_Missense_Mutation_p.E403D|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 461 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TGACACAGGGCTCGGGTGTCA 0.637 7 19 --- --- --- --- PASS MYLK 4638 broad.mit.edu 37 3 123339143 123339143 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:123339143G>T uc003ego.2 - 32 5561 c.5279C>A c.(5278-5280)TCT>TAT p.S1760Y uc003egk.2_Intron|MYLK_uc003egl.2_5'UTR|MYLK_uc003egm.2_5'UTR|MYLK_uc010hrr.2_Missense_Mutation_p.S195Y|MYLK_uc011bjv.1_Missense_Mutation_p.S560Y|MYLK_uc011bjw.1_Missense_Mutation_p.S1760Y|MYLK_uc003egp.2_Missense_Mutation_p.S1691Y|MYLK_uc003egq.2_Missense_Mutation_p.S1709Y|MYLK_uc003egr.2_Missense_Mutation_p.S1640Y|MYLK_uc003egs.2_Missense_Mutation_p.S1584Y NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1760 Calmodulin-binding. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CATTGCCATAGAGGACAGTCT 0.522 8 219 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124380707 124380707 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:124380707G>T uc003ehg.2 + 45 6401 c.6274G>T c.(6274-6276)GAG>TAG p.E2092* KALRN_uc003ehi.2_Nonsense_Mutation_p.E433*|KALRN_uc003ehk.2_Nonsense_Mutation_p.E395*|KALRN_uc011bjz.1_Nonsense_Mutation_p.E184* NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2091 DH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GAAAGCAGTGGAGTTAATGTG 0.483 13 104 --- --- --- --- PASS SEC61A1 29927 broad.mit.edu 37 3 127786843 127786843 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:127786843G>T uc003ekb.2 + 11 1369 c.1185G>T c.(1183-1185)AAG>AAT p.K395N RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Missense_Mutation_p.K342N|SEC61A1_uc003ekd.2_Missense_Mutation_p.K275N|SEC61A1_uc003ekg.2_Missense_Mutation_p.K89N NM_013336 NP_037468 P61619 S61A1_HUMAN Sec61 alpha 1 subunit 395 Cytoplasmic (Potential). protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding ovary(1) 1 AGCAGCTGAAGGAGCAGCAGA 0.567 OREG0015775 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 80 --- --- --- --- PASS RAB43 339122 broad.mit.edu 37 3 128848948 128848948 + Missense_Mutation SNP T G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:128848948T>G uc003elo.1 - 11 1045 c.834A>C c.(832-834)GAA>GAC p.E278D ISY1_uc010hsz.1_Missense_Mutation_p.E98D|ISY1_uc003elp.1_Missense_Mutation_p.E278D|ISY1_uc010hta.1_Missense_Mutation_p.E300D NM_020701 NP_065752 Q86YS6 RAB43_HUMAN ISY1 splicing factor homolog Error:Variant_position_missing_in_Q86YS6_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding lung(1) 1 GCCTTCTGGCTTCTTCACTTT 0.552 29 48 --- --- --- --- PASS MRPL3 11222 broad.mit.edu 37 3 131181652 131181652 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:131181652G>T uc003eoh.2 - 10 1126 c.962C>A c.(961-963)CCT>CAT p.P321H MRPL3_uc011blo.1_Missense_Mutation_p.P216H|MRPL3_uc011blp.1_Missense_Mutation_p.P348H NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 321 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 ATCTCCATCAGGAAAATATGT 0.413 5 35 --- --- --- --- PASS SOX14 8403 broad.mit.edu 37 3 137484005 137484005 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:137484005G>A uc003erm.1 + 1 427 c.379G>A c.(379-381)GCC>ACC p.A127T NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 127 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 GAAAGCCCGGGCCTTCTTGCC 0.716 5 13 --- --- --- --- PASS PHC3 80012 broad.mit.edu 37 3 169835124 169835124 + Missense_Mutation SNP T A A rs138410529 by1000genomes TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:169835124T>A uc010hws.1 - 10 2111 c.2047A>T c.(2047-2049)AGT>TGT p.S683C PHC3_uc003fgl.2_Missense_Mutation_p.S695C|PHC3_uc011bpq.1_Missense_Mutation_p.S642C NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 683 multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GGAATGCTACTGTGCATAGAT 0.433 23 43 --- --- --- --- PASS ZNF639 51193 broad.mit.edu 37 3 179051978 179051978 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr3:179051978G>T uc003fjq.1 + 6 1569 c.1226G>T c.(1225-1227)GGG>GTG p.G409V ZNF639_uc003fjr.1_Missense_Mutation_p.G409V NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 409 Interaction with CTNNA2.|C2H2-type 6. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GATGACTGTGGGAAAGGCTTT 0.328 6 62 --- --- --- --- PASS BEND4 389206 broad.mit.edu 37 4 42145654 42145654 + Missense_Mutation SNP A C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:42145654A>C uc003gwn.2 - 3 1425 c.845T>G c.(844-846)CTG>CGG p.L282R BEND4_uc003gwm.2_Missense_Mutation_p.L282R|BEND4_uc011byy.1_Missense_Mutation_p.L282R NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 282 0 AGAGGTTGACAGAGGATCCAC 0.498 10 24 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 55131190 55131190 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:55131190C>A uc003han.3 + 5 1064 c.733C>A c.(733-735)CTT>ATT p.L245I PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.L139I|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 245 Ig-like C2-type 3.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GGTGGTTGACCTTCAATGGAC 0.333 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 5 48 --- --- --- --- PASS SMR3A 26952 broad.mit.edu 37 4 71232555 71232555 + Silent SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:71232555C>G uc003hfg.1 + 3 330 c.249C>G c.(247-249)CCC>CCG p.P83P SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 83 Pro-rich.|Poly-Pro. extracellular region 0 all_hematologic(202;0.196) CTCCTCCACCCTATGGTCCAG 0.567 8 38 --- --- --- --- PASS CDS1 1040 broad.mit.edu 37 4 85525418 85525418 + Missense_Mutation SNP A G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:85525418A>G uc011ccv.1 + 2 638 c.140A>G c.(139-141)TAT>TGT p.Y47C NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 47 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GATGACAGATATGGAGATTTG 0.348 15 31 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96761394 96761394 + Missense_Mutation SNP C A A rs143281239 TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:96761394C>A uc003htr.3 + 1 156 c.93C>A c.(91-93)GAC>GAA p.D31E NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 31 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCTCAAATGACGCTACATTTG 0.502 5 15 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126242434 126242434 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:126242434G>T uc003ifj.3 + 1 4868 c.4868G>T c.(4867-4869)GGC>GTC p.G1623V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1623 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATTCTTCAGGGCCTTGATGGA 0.433 16 37 --- --- --- --- PASS INTU 27152 broad.mit.edu 37 4 128564999 128564999 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:128564999G>T uc003ifk.1 + 2 540 c.470G>T c.(469-471)CGG>CTG p.R157L INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 157 ovary(1) 1 GTCCAACAGCGATACAAAGAT 0.393 4 45 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 4 165981199 165981199 + Silent SNP T A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:165981199T>A uc011cjl.1 + 1 900 c.900T>A c.(898-900)CCT>CCA p.P300P NM_001105575 NP_001099045 tripartite motif-containing 75 TTCTAGACCCTGAAACAGCAC 0.343 12 33 --- --- --- --- PASS ZFP42 132625 broad.mit.edu 37 4 188924324 188924324 + Missense_Mutation SNP A T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:188924324A>T uc003izg.1 + 3 608 c.363A>T c.(361-363)GAA>GAT p.E121D ZFP42_uc003izh.1_Missense_Mutation_p.E121D|ZFP42_uc003izi.1_Missense_Mutation_p.E121D NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 121 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GTTCTTTGGAATACATGAAAA 0.408 26 74 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9202246 9202246 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:9202246G>T uc003jek.2 - 9 1465 c.753C>A c.(751-753)GCC>GCA p.A251A NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 251 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TGCACACCCGGGCAGCTCTGG 0.502 5 31 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13719032 13719032 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:13719032G>T uc003jfd.2 - 72 12500 c.12458C>A c.(12457-12459)CCT>CAT p.P4153H DNAH5_uc003jfc.2_Missense_Mutation_p.P321H NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4153 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCCTTGTGGAGGATCGTTGGC 0.453 Kartagener_syndrome 11 39 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13719033 13719033 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:13719033G>T uc003jfd.2 - 72 12499 c.12457C>A c.(12457-12459)CCT>ACT p.P4153T DNAH5_uc003jfc.2_Missense_Mutation_p.P321T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4153 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CCTTGTGGAGGATCGTTGGCA 0.453 Kartagener_syndrome 10 40 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23523402 23523402 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:23523402C>A uc003jgo.2 + 9 1067 c.885C>A c.(883-885)ATC>ATA p.I295I NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 295 SET. I -> VRRACHF (in Ref. 4; AAF87242). meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AAACTCAGATCACCAAGGGGA 0.443 HNSCC(3;0.000094) 14 47 --- --- --- --- PASS LMBRD2 92255 broad.mit.edu 37 5 36105250 36105250 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:36105250T>C uc003jkb.1 - 17 2362 c.1947A>G c.(1945-1947)ATA>ATG p.I649M uc003jka.1_5'Flank NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 649 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAGAAGTTCTATCCGGTCCC 0.408 9 31 --- --- --- --- PASS NIPBL 25836 broad.mit.edu 37 5 37024753 37024753 + Missense_Mutation SNP A G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:37024753A>G uc003jkl.3 + 30 6140 c.5641A>G c.(5641-5643)ACA>GCA p.T1881A NIPBL_uc003jkk.3_Missense_Mutation_p.T1881A NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1881 HEAT 2. brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGAACAACCAACATTTCCAAA 0.313 11 19 --- --- --- --- PASS GHR 2690 broad.mit.edu 37 5 42695076 42695076 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:42695076G>T uc003jmt.2 + 5 367 c.324G>T c.(322-324)GGG>GGT p.G108G GHR_uc011cpq.1_5'UTR NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 108 Extracellular (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTTCTGCTGGGGAAAACAGCT 0.308 4 14 --- --- --- --- PASS GZMA 3001 broad.mit.edu 37 5 54401310 54401310 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:54401310G>A uc003jpm.2 + 2 116 c.79G>A c.(79-81)GAA>AAA p.E27K NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 27 cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AGATGTCTGTGAAAAAATTAT 0.413 9 32 --- --- --- --- PASS DDX4 54514 broad.mit.edu 37 5 55075836 55075836 + Missense_Mutation SNP A G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:55075836A>G uc003jqg.3 + 8 513 c.439A>G c.(439-441)AGA>GGA p.R147G DDX4_uc010ivz.2_Missense_Mutation_p.R127G|DDX4_uc003jqh.3_Intron|DDX4_uc003jqj.2_Intron NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 147 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) GCCATACAGAAGAGGTGGAAG 0.373 4 18 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70806897 70806897 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:70806897C>A uc003kbp.1 + 17 4241 c.3978C>A c.(3976-3978)ACC>ACA p.T1326T BDP1_uc003kbn.1_Silent_p.T1326T|BDP1_uc003kbo.2_Silent_p.T1326T NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1326 9; approximate.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TAGAGGAGACCAGTACCTCAA 0.423 6 57 --- --- --- --- PASS PDE8B 8622 broad.mit.edu 37 5 76646894 76646894 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:76646894G>T uc003kfa.2 + 9 1067 c.1022G>T c.(1021-1023)TGG>TTG p.W341L PDE8B_uc003kfb.2_Missense_Mutation_p.W321L|PDE8B_uc003kfc.2_Missense_Mutation_p.W341L|PDE8B_uc003kfd.2_Missense_Mutation_p.W294L|PDE8B_uc003kfe.2_Intron NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 341 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) ATGTAGGAGTGGCAGGGGGTT 0.517 9 20 --- --- --- --- PASS DDX46 9879 broad.mit.edu 37 5 134153324 134153324 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:134153324G>T uc003kzw.2 + 20 2917 c.2749G>T c.(2749-2751)GAA>TAA p.E917* NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 917 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAGAAACAAGAAGAAGAGAG 0.408 7 51 --- --- --- --- PASS PCDHB11 56125 broad.mit.edu 37 5 140579904 140579904 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:140579904C>A uc003liy.2 + 1 557 c.557C>A c.(556-558)CCA>CAA p.P186Q PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 186 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGTCATTCCAGACAATAGG 0.438 5 51 --- --- --- --- PASS PCDH12 51294 broad.mit.edu 37 5 141337102 141337102 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:141337102C>A uc003llx.2 - 1 1526 c.315G>T c.(313-315)CTG>CTT p.L105L NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 105 Cadherin 1.|Extracellular (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAAGGAAACCAGGCAGGGAT 0.587 6 83 --- --- --- --- PASS ADRB2 154 broad.mit.edu 37 5 148207268 148207268 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:148207268G>A uc003lpr.1 + 1 1113 c.874G>A c.(874-876)GTT>ATT p.V292I SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN adrenergic, beta-2-, receptor, surface 292 Helical; Name=6.|Agonist and antagonist binding. activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) CTTCTTCATCGTTAACATTGT 0.463 8 65 --- --- --- --- PASS GFPT2 9945 broad.mit.edu 37 5 179757699 179757699 + Splice_Site SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:179757699C>A uc003mlw.1 - 6 632 c.534_splice c.e6+1 p.L178_splice NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TTGTAACTCACCAACTGCTGA 0.378 15 74 --- --- --- --- PASS GFPT2 9945 broad.mit.edu 37 5 179757700 179757700 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:179757700C>A uc003mlw.1 - 6 632 c.534G>T c.(532-534)TTG>TTT p.L178F NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 178 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TGTAACTCACCAACTGCTGAA 0.373 15 74 --- --- --- --- PASS KAAG1 353219 broad.mit.edu 37 6 24358065 24358065 + Silent SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:24358065G>A uc003ndz.1 + 1 935 c.198G>A c.(196-198)GCG>GCA p.A66A DCDC2_uc003ndx.2_5'UTR|DCDC2_uc003ndy.2_5'UTR NM_181337 NP_851854 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 66 immune response 0 CCCAGGGCGCGGGATCGCCTC 0.662 6 25 --- --- --- --- PASS SLC17A1 6568 broad.mit.edu 37 6 25819768 25819768 + Missense_Mutation SNP C A A rs146175657 byFrequency TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:25819768C>A uc003nfh.3 - 5 616 c.500G>T c.(499-501)CGA>CTA p.R167L SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.R165L|SLC17A1_uc010jqc.1_Missense_Mutation_p.R165L NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 167 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 AAGTCGGCCTCGTTCCAGGGG 0.393 4 50 --- --- --- --- PASS TRIM38 10475 broad.mit.edu 37 6 25967109 25967109 + Missense_Mutation SNP A T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:25967109A>T uc003nfm.2 + 3 794 c.359A>T c.(358-360)CAG>CTG p.Q120L TRIM38_uc003nfn.2_Missense_Mutation_p.Q120L NM_006355 NP_006346 O00635 TRI38_HUMAN tripartite motif-containing 38 120 B box-type. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding 0 CGGGCACCACAGCACAAAGGG 0.557 12 49 --- --- --- --- PASS C2 717 broad.mit.edu 37 6 31902047 31902047 + Missense_Mutation SNP A G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:31902047A>G uc003nyf.2 + 6 1084 c.820A>G c.(820-822)AAG>GAG p.K274E C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.K274E|C2_uc010jtk.2_Missense_Mutation_p.K142E|C2_uc011doq.1_Missense_Mutation_p.K245E|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank NM_000063 NP_000054 P06681 CO2_HUMAN complement component 2 isoform 1 preproprotein 274 VWFA. complement activation, classical pathway|innate immune response|proteolysis extracellular space serine-type endopeptidase activity ovary(1)|skin(1) 2 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) TCTCATCTTCAAGGAGAGCGC 0.547 38 177 --- --- --- --- PASS SPDEF 25803 broad.mit.edu 37 6 34507062 34507062 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:34507062T>C uc003ojq.1 - 5 1209 c.794A>G c.(793-795)TAT>TGT p.Y265C SPDEF_uc011dsq.1_Missense_Mutation_p.Y249C NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 265 ETS. negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(3)|ovary(1)|central_nervous_system(1) 5 GAAGCGGCCATAGCTGTGGGG 0.617 15 114 --- --- --- --- PASS SCUBE3 222663 broad.mit.edu 37 6 35214015 35214015 + Nonsense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:35214015C>T uc003okf.1 + 21 2791 c.2785C>T c.(2785-2787)CGA>TGA p.R929* SCUBE3_uc003okg.1_Nonsense_Mutation_p.R928*|SCUBE3_uc003okh.1_Nonsense_Mutation_p.R816* NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 929 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 AGACATTGTGCGAGATGGCCG 0.418 24 151 --- --- --- --- PASS PI16 221476 broad.mit.edu 37 6 36931007 36931007 + Silent SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:36931007C>T uc003ona.2 + 5 1217 c.889C>T c.(889-891)CTG>TTG p.L297L PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Silent_p.L68L NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 297 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 AGCTCACAGCCTGCCCTCCTT 0.532 22 65 --- --- --- --- PASS TREML2 79865 broad.mit.edu 37 6 41168703 41168703 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:41168703C>A uc010jxm.1 - 1 223 c.44G>T c.(43-45)GGT>GTT p.G15V NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 15 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) TGAGACGCAACCCTGTGGCCA 0.622 4 7 --- --- --- --- PASS TREML2 79865 broad.mit.edu 37 6 41168707 41168707 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:41168707G>T uc010jxm.1 - 1 219 c.40C>A c.(40-42)CAG>AAG p.Q14K NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 14 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) ACGCAACCCTGTGGCCACAGC 0.622 4 8 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51774224 51774224 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:51774224G>T uc003pah.1 - 40 6815 c.6539C>A c.(6538-6540)TCC>TAC p.S2180Y PKHD1_uc010jzn.1_Missense_Mutation_p.S205Y|PKHD1_uc003pai.2_Missense_Mutation_p.S2180Y NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2180 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CATATCCCTGGATCCTAGCAT 0.483 13 76 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55264165 55264165 + Splice_Site SNP A G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:55264165A>G uc003pcm.1 + 8 1135 c.1049_splice c.e8-2 p.G350_splice NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTCTTTTTCTAGGAGAAGTAA 0.313 4 14 --- --- --- --- PASS IBTK 25998 broad.mit.edu 37 6 82909856 82909856 + Splice_Site SNP A C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:82909856A>C uc003pjl.1 - 21 3552 c.3025_splice c.e21+1 p.G1009_splice IBTK_uc011dyu.1_Splice_Site|IBTK_uc011dyv.1_Splice_Site_p.E1009_splice|IBTK_uc011dyw.1_Splice_Site_p.G808_splice|IBTK_uc010kbi.1_Splice_Site_p.G703_splice|IBTK_uc003pjm.2_Splice_Site_p.G1009_splice NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CTTTCCACGAACCTGTAGATG 0.378 12 42 --- --- --- --- PASS PRSS35 167681 broad.mit.edu 37 6 84234230 84234230 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:84234230C>A uc003pjz.2 + 2 1233 c.1070C>A c.(1069-1071)CCA>CAA p.P357Q PRSS35_uc010kbm.2_Missense_Mutation_p.P357Q NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 357 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CTGAAAGATCCAGACAAAAAG 0.517 18 52 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90471376 90471376 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:90471376G>T uc003pnn.1 - 17 2564 c.2448C>A c.(2446-2448)TTC>TTA p.F816L MDN1_uc003pno.1_Missense_Mutation_p.F234L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 816 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTACAAATGCGAACAATAAGG 0.333 4 31 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90499528 90499528 + Nonsense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:90499528C>A uc003pnn.1 - 7 1317 c.1201G>T c.(1201-1203)GAG>TAG p.E401* MDN1_uc003pnp.1_Nonsense_Mutation_p.E401* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 401 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCAATATCCTCCAGAAGGATC 0.468 5 56 --- --- --- --- PASS BACH2 60468 broad.mit.edu 37 6 90718521 90718521 + Missense_Mutation SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:90718521C>G uc011eab.1 - 6 852 c.43G>C c.(43-45)GAG>CAG p.E15Q BACH2_uc003pnw.2_Missense_Mutation_p.E15Q|BACH2_uc010kch.2_Missense_Mutation_p.E15Q NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 15 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ACTGTGGACTCATACACATAC 0.423 8 54 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136597032 136597032 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:136597032C>T uc003qgx.1 - 5 1884 c.1631G>A c.(1630-1632)CGT>CAT p.R544H BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 544 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GACTTCAGGACGGTGAGAATC 0.433 7 67 --- --- --- --- PASS TNFAIP3 7128 broad.mit.edu 37 6 138200413 138200413 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:138200413G>A uc003qhr.2 + 7 1897 c.1831G>A c.(1831-1833)GGC>AGC p.G611S TNFAIP3_uc003qhs.2_Missense_Mutation_p.G611S NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 611 Interaction with NAF1 (By similarity).|A20-type 4. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CAGAAAAGCCGGCTGCGTGTA 0.532 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 13 110 --- --- --- --- PASS TAB2 23118 broad.mit.edu 37 6 149700403 149700403 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:149700403C>A uc003qmj.2 + 3 1530 c.1352C>A c.(1351-1353)CCT>CAT p.P451H TAB2_uc011eec.1_Missense_Mutation_p.P419H|TAB2_uc010kia.1_Missense_Mutation_p.P451H|TAB2_uc010kib.1_Missense_Mutation_p.P451H|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 451 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 GCAACCTCTCCTCGAGTGGTA 0.507 6 79 --- --- --- --- PASS FTSJ2 29960 broad.mit.edu 37 7 2275030 2275030 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:2275030C>A uc003slm.2 - 3 497 c.468G>T c.(466-468)GCG>GCT p.A156A MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_Silent_p.A2A|FTSJ2_uc003sll.2_Silent_p.A2A|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_Silent_p.A2A NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN FtsJ homolog 2 156 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) TGGCATTGGGCGCCATGTCGC 0.592 10 46 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23793980 23793980 + Missense_Mutation SNP A C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:23793980A>C uc003sws.3 + 10 1247 c.1180A>C c.(1180-1182)ATA>CTA p.I394L STK31_uc003swt.3_Missense_Mutation_p.I371L|STK31_uc011jze.1_Missense_Mutation_p.I394L|STK31_uc010kuq.2_Missense_Mutation_p.I371L NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 394 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TTCAGATGCTATACAAGTGTT 0.373 16 42 --- --- --- --- PASS HOXA3 3200 broad.mit.edu 37 7 27150165 27150165 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:27150165G>T uc011jzl.1 - 2 295 c.95C>A c.(94-96)CCG>CAG p.P32Q HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Missense_Mutation_p.P32Q NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 32 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 CGCCGGGTACGGCTGCTGATT 0.657 3 6 --- --- --- --- PASS HOXA7 3204 broad.mit.edu 37 7 27194745 27194745 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:27194745C>A uc003sys.2 - 2 608 c.476G>T c.(475-477)CGC>CTC p.R159L HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR NM_006896 NP_008827 P31268 HXA7_HUMAN homeobox A7 159 Poly-Arg.|Homeobox. angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding 0 TTCAATGCGGCGGCGCCGCGT 0.602 29 120 --- --- --- --- PASS FAM188B 84182 broad.mit.edu 37 7 30831048 30831048 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:30831048G>T uc003tbt.2 + 5 1008 c.931G>T c.(931-933)GAG>TAG p.E311* FAM188B_uc010kwe.2_Nonsense_Mutation_p.E282* NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 311 0 GGATCCCTCCGAGGACACCCC 0.622 4 39 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45725621 45725621 + Missense_Mutation SNP T A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:45725621T>A uc003tne.3 + 13 2152 c.2134T>A c.(2134-2136)TCT>ACT p.S712T NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 712 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGTCCTTTCGTCTGGGGGCCA 0.652 5 25 --- --- --- --- PASS GTF2IRD1 9569 broad.mit.edu 37 7 74016709 74016709 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:74016709G>T uc003uaq.2 + 27 3222 c.2829G>T c.(2827-2829)ATG>ATT p.M943I GTF2IRD1_uc010lbq.2_Missense_Mutation_p.M960I|GTF2IRD1_uc003uap.2_Missense_Mutation_p.M928I|GTF2IRD1_uc003uar.1_3'UTR NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 943 Missing: Cytoplasmic localization. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CAATGTACATGGTGGACTATG 0.478 5 68 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100680080 100680080 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:100680080G>T uc003uxp.1 + 3 5436 c.5383G>T c.(5383-5385)GGT>TGT p.G1795C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1795 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|28. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACTGCTGAAGGTACCAGCAT 0.517 11 318 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100685234 100685234 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:100685234G>T uc003uxp.1 + 3 10590 c.10537G>T c.(10537-10539)GGT>TGT p.G3513C MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3513 Extracellular (Potential).|Ser-rich.|57.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.G3513V(1) ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ATCAACTGCTGGTGAAGGAAG 0.493 12 418 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135277850 135277850 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:135277850G>T uc003vsw.2 + 12 1771 c.1740G>T c.(1738-1740)CAG>CAT p.Q580H NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 580 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 ATAGTGTCCAGTACCGTCACC 0.488 14 70 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146805264 146805264 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:146805264C>A uc003weu.1 + 5 1092 c.576C>A c.(574-576)GGC>GGA p.G192G NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 192 Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACTTTGATGGCCATGTTGTAT 0.358 HNSCC(39;0.1) 5 12 --- --- --- --- PASS INTS9 55756 broad.mit.edu 37 8 28651468 28651468 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:28651468G>T uc003xha.2 - 10 1192 c.893C>A c.(892-894)CCC>CAC p.P298H INTS9_uc011lav.1_Missense_Mutation_p.P274H|INTS9_uc011law.1_Missense_Mutation_p.P277H|INTS9_uc011lax.1_Missense_Mutation_p.P191H|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.P298H NM_018250 NP_060720 Q9NV88 INT9_HUMAN integrator complex subunit 9 isoform 1 298 snRNA processing integrator complex protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) AGGGTAGCAGGGAACCAACAC 0.483 6 65 --- --- --- --- PASS RB1CC1 9821 broad.mit.edu 37 8 53573532 53573532 + Silent SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:53573532T>C uc003xre.3 - 11 2139 c.1581A>G c.(1579-1581)TTA>TTG p.L527L RB1CC1_uc003xrf.3_Silent_p.L527L NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 527 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CTGCTTCATATAATCTCTTTC 0.279 6 15 --- --- --- --- PASS RB1CC1 9821 broad.mit.edu 37 8 53573823 53573823 + Missense_Mutation SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:53573823C>G uc003xre.3 - 10 1935 c.1377G>C c.(1375-1377)ATG>ATC p.M459I RB1CC1_uc003xrf.3_Missense_Mutation_p.M459I NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 459 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAGCATGAAGCATTACAAAGC 0.358 5 22 --- --- --- --- PASS ARFGEF1 10565 broad.mit.edu 37 8 68204208 68204208 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:68204208C>A uc003xxo.1 - 6 1180 c.790G>T c.(790-792)GAC>TAC p.D264Y NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 264 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGGTCAAGGTCCCCTTCGTGT 0.423 13 59 --- --- --- --- PASS CRISPLD1 83690 broad.mit.edu 37 8 75941732 75941732 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:75941732G>T uc003yan.2 + 14 1806 c.1431G>T c.(1429-1431)CAG>CAT p.Q477H CRISPLD1_uc011lfk.1_Missense_Mutation_p.Q289H|CRISPLD1_uc011lfl.1_Missense_Mutation_p.Q289H NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 477 LCCL 2. extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) CTTCTTTTCAGAATGGAATCT 0.373 5 21 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77766784 77766784 + Missense_Mutation SNP A C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:77766784A>C uc003yav.2 + 10 7879 c.7492A>C c.(7492-7494)AAC>CAC p.N2498H ZFHX4_uc003yau.1_Missense_Mutation_p.N2543H|ZFHX4_uc003yaw.1_Missense_Mutation_p.N2498H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2498 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATTTGACCCCAACAATCCGCT 0.547 HNSCC(33;0.089) 31 153 --- --- --- --- PASS PEX2 5828 broad.mit.edu 37 8 77895842 77895842 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:77895842C>A uc003yax.2 - 4 1031 c.573G>T c.(571-573)ATG>ATT p.M191I PEX2_uc003yay.2_Missense_Mutation_p.M191I|PEX2_uc003yaz.2_Missense_Mutation_p.M191I NM_000318 NP_000309 P28328 PEX2_HUMAN peroxin 2 191 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding ovary(1) 1 GTTCCCTATTCATGTATTCAA 0.388 10 78 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103301779 103301779 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:103301779T>C uc003ykr.1 - 35 4648 c.4615A>G c.(4615-4617)ATC>GTC p.I1539V UBR5_uc003yks.1_Missense_Mutation_p.I1539V NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1539 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTCCTGATGATGTAGGATGAC 0.468 8 55 --- --- --- --- PASS SLC30A8 169026 broad.mit.edu 37 8 118184797 118184797 + Silent SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:118184797G>A uc003yoh.2 + 8 1217 c.987G>A c.(985-987)GTG>GTA p.V329V SLC30A8_uc010mcz.2_Silent_p.V280V|SLC30A8_uc011lia.1_Silent_p.V280V|SLC30A8_uc003yog.2_Silent_p.V280V NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 329 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ACAGCCAAGTGGTTCGGAGAG 0.507 12 46 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139190841 139190841 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:139190841C>A uc003yuy.2 - 10 1137 c.966G>T c.(964-966)CTG>CTT p.L322L FAM135B_uc003yux.2_Silent_p.L223L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 322 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGACTGTGTCCAGGAACTGGG 0.532 HNSCC(54;0.14) 6 31 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139606266 139606266 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr8:139606266G>T uc003yvd.2 - 63 5056 c.4609C>A c.(4609-4611)CCC>ACC p.P1537T COL22A1_uc011ljo.1_Missense_Mutation_p.P817T NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1537 Pro-rich.|Gly-rich.|Collagen-like 15. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCACCTTTGGGACCTATGGGT 0.632 HNSCC(7;0.00092) 6 34 --- --- --- --- PASS MPDZ 8777 broad.mit.edu 37 9 13176150 13176150 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr9:13176150G>T uc010mia.1 - 19 2973 c.2916C>A c.(2914-2916)CCC>CCA p.P972P MPDZ_uc003zkz.3_5'Flank|MPDZ_uc010mhy.2_Silent_p.P972P|MPDZ_uc010mhz.2_Silent_p.P972P|MPDZ_uc011lmn.1_Silent_p.P972P|MPDZ_uc003zlb.3_Silent_p.P972P NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 972 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) CAGCTGAATCGGGTAGCACAG 0.348 3 6 --- --- --- --- PASS FAM154A 158297 broad.mit.edu 37 9 18928305 18928305 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr9:18928305C>A uc003zni.1 - 4 1448 c.1170G>T c.(1168-1170)AAG>AAT p.K390N FAM154A_uc010mip.1_Missense_Mutation_p.K198N NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 390 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) ACCAATGAGGCTTACAGCTTT 0.577 5 22 --- --- --- --- PASS IFNA16 3449 broad.mit.edu 37 9 21217192 21217192 + Missense_Mutation SNP A G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr9:21217192A>G uc003zor.1 - 1 119 c.113T>C c.(112-114)TTG>TCG p.L38S IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN interferon, alpha 16 precursor 38 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding skin(1) 1 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CAGGAGTATCAAGGCCCTCCT 0.498 7 25 --- --- --- --- PASS ZNF782 158431 broad.mit.edu 37 9 99580443 99580443 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr9:99580443T>C uc004awp.1 - 6 2143 c.1862A>G c.(1861-1863)AAT>AGT p.N621S ZNF782_uc011lup.1_Missense_Mutation_p.N489S NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 621 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) TCCACATTCATTACATTCATA 0.433 9 22 --- --- --- --- PASS TMEM38B 55151 broad.mit.edu 37 9 108467943 108467943 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr9:108467943G>T uc004bcu.1 + 2 295 c.178G>T c.(178-180)GGT>TGT p.G60C TMEM38B_uc010mtn.1_Missense_Mutation_p.G60C NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 60 Helical; (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 CCACTGTTTTGGTGGAGGAAT 0.418 6 64 --- --- --- --- PASS GDI2 2665 broad.mit.edu 37 10 5836916 5836916 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr10:5836916C>A uc001iil.3 - 4 611 c.320G>T c.(319-321)GGG>GTG p.G107V GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Missense_Mutation_p.G111V NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 107 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 GACAAAGCTCCCTTCAGTCAC 0.373 6 70 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31809717 31809717 + Missense_Mutation SNP T A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr10:31809717T>A uc001ivs.3 + 7 1517 c.1454T>A c.(1453-1455)CTT>CAT p.L485H ZEB1_uc001ivr.3_Missense_Mutation_p.L267H|ZEB1_uc010qee.1_Missense_Mutation_p.L267H|ZEB1_uc010qef.1_Missense_Mutation_p.L267H|ZEB1_uc009xlj.1_Missense_Mutation_p.L411H|ZEB1_uc010qeg.1_Missense_Mutation_p.L344H|ZEB1_uc009xlk.1_Missense_Mutation_p.L267H|ZEB1_uc001ivt.3_Missense_Mutation_p.L267H|ZEB1_uc001ivu.3_Missense_Mutation_p.L486H|ZEB1_uc001ivv.3_Missense_Mutation_p.L465H|ZEB1_uc010qeh.1_Missense_Mutation_p.L418H|ZEB1_uc009xlo.1_Missense_Mutation_p.L468H|ZEB1_uc009xlp.2_Missense_Mutation_p.L469H NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 485 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) CCTAGCCAACTTCAAGTTGTT 0.373 10 51 --- --- --- --- PASS GDF10 2662 broad.mit.edu 37 10 48429216 48429216 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr10:48429216G>C uc001jfb.2 - 2 1126 c.670C>G c.(670-672)CAG>GAG p.Q224E GDF10_uc009xnp.2_Missense_Mutation_p.Q223E|GDF10_uc009xnq.1_Missense_Mutation_p.Q224E NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 224 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 GAATCCAGCTGGGCGGAGAGG 0.697 3 4 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61835767 61835767 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr10:61835767G>T uc001jky.2 - 37 5064 c.4872C>A c.(4870-4872)ACC>ACA p.T1624T ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1624 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TCACTGGAGAGGTTCGAGAGG 0.478 5 44 --- --- --- --- PASS ZNF365 22891 broad.mit.edu 37 10 64159292 64159292 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr10:64159292G>T uc001jly.3 + 5 1075 c.1013G>T c.(1012-1014)CGA>CTA p.R338L ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Missense_Mutation_p.R323L|ZNF365_uc001jma.3_RNA NM_014951 NP_055766 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform A Error:Variant_position_missing_in_Q70YC4_after_alignment ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) TGTAGAAGCCGAGGGCACCCG 0.483 4 84 --- --- --- --- PASS TCF7L2 6934 broad.mit.edu 37 10 114911628 114911628 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr10:114911628G>T uc001lae.3 + 10 1653 c.1146G>T c.(1144-1146)CAG>CAT p.Q382H TCF7L2_uc001lac.3_Missense_Mutation_p.Q359H|TCF7L2_uc010qrk.1_Missense_Mutation_p.Q359H|TCF7L2_uc010qrl.1_Missense_Mutation_p.Q359H|TCF7L2_uc010qrm.1_Missense_Mutation_p.Q382H|TCF7L2_uc010qrn.1_Missense_Mutation_p.Q325H|TCF7L2_uc001lad.3_Missense_Mutation_p.Q355H|TCF7L2_uc001lag.3_Missense_Mutation_p.Q406H|TCF7L2_uc001laf.3_Missense_Mutation_p.Q359H|TCF7L2_uc010qro.1_Missense_Mutation_p.Q359H|TCF7L2_uc001lah.2_Missense_Mutation_p.Q364H|TCF7L2_uc010qrp.1_Missense_Mutation_p.Q359H|TCF7L2_uc010qrq.1_Missense_Mutation_p.Q355H|TCF7L2_uc010qrr.1_Missense_Mutation_p.Q297H|TCF7L2_uc010qrs.1_Missense_Mutation_p.Q253H|TCF7L2_uc010qrt.1_Missense_Mutation_p.Q253H|TCF7L2_uc010qru.1_Missense_Mutation_p.Q281H|TCF7L2_uc010qrv.1_Missense_Mutation_p.Q199H|TCF7L2_uc010qrw.1_Missense_Mutation_p.Q86H|TCF7L2_uc010qrx.1_Missense_Mutation_p.Q239H NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 382 Mediates interaction with MAD2L2.|HMG box. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CCATCAACCAGATCCTTGGGC 0.532 8 50 --- --- --- --- PASS CLRN3 119467 broad.mit.edu 37 10 129676511 129676511 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr10:129676511C>A uc001lka.1 - 3 746 c.583G>T c.(583-585)GTA>TTA p.V195L CLRN3_uc001ljz.1_Missense_Mutation_p.V127L NM_152311 NP_689524 Q8NCR9 CLRN3_HUMAN clarin 3 195 Helical; (Potential). integral to membrane skin(1) 1 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) ATGATGGTTACAGTGACTATA 0.453 18 99 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 10 134650410 134650410 + Silent SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr10:134650410T>C uc010qux.1 - 37 5625 c.5625A>G c.(5623-5625)CAA>CAG p.Q1875Q NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. CGCAGAGATTTTGCCAAGCCT 0.537 10 69 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1016592 1016592 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:1016592C>A uc001lsw.2 - 31 6260 c.6209G>T c.(6208-6210)GGG>GTG p.G2070V NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2070 Ser-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGGCTGGTCCCACTGGTGGT 0.577 9 143 --- --- --- --- PASS KRTAP5-3 387266 broad.mit.edu 37 11 1629296 1629296 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:1629296G>A uc001ltw.1 - 1 398 c.320C>T c.(319-321)TCC>TTC p.S107F NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 107 11 X 4 AA repeats of C-C-X-P. keratin filament ovary(2) 2 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GACCCCCTTGGAACCCCCACA 0.662 10 53 --- --- --- --- PASS OR56B4 196335 broad.mit.edu 37 11 6129132 6129132 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:6129132C>A uc010qzx.1 + 1 124 c.124C>A c.(124-126)CTC>ATC p.L42I NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGCTCTACCTCTTAGCTCT 0.502 6 42 --- --- --- --- PASS OR2AG2 338755 broad.mit.edu 37 11 6789336 6789336 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:6789336G>C uc001meq.1 - 1 853 c.853C>G c.(853-855)CTG>GTG p.L285V NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 285 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGTGGATTCAGGGCTGGAGTG 0.502 6 47 --- --- --- --- PASS STK33 65975 broad.mit.edu 37 11 8414154 8414154 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:8414154C>A uc001mgi.1 - 12 2367 c.1448G>T c.(1447-1449)GGA>GTA p.G483V STK33_uc001mgj.1_Missense_Mutation_p.G483V|STK33_uc001mgk.1_Missense_Mutation_p.G483V|STK33_uc010rbn.1_Missense_Mutation_p.G442V|STK33_uc001mgl.3_Missense_Mutation_p.G296V NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 483 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CTCCATTTCTCCCTTGATTTC 0.448 7 89 --- --- --- --- PASS ASCL3 56676 broad.mit.edu 37 11 8959439 8959439 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:8959439G>T uc001mhd.1 - 2 330 c.270C>A c.(268-270)TAC>TAA p.Y90* NM_020646 NP_065697 Q9NQ33 ASCL3_HUMAN ASCL3 89 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding 0 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) AGGCTGGCCCGTAGGAGTACT 0.542 18 90 --- --- --- --- PASS MRGPRX1 259249 broad.mit.edu 37 11 18956275 18956275 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:18956275C>A uc001mpg.2 - 1 275 c.57G>T c.(55-57)GAG>GAT p.E19D NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 19 Extracellular (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 AAAGAGTCTCCTCAGTTCCGT 0.527 10 373 --- --- --- --- PASS TTC17 55761 broad.mit.edu 37 11 43515348 43515348 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:43515348G>T uc001mxi.2 + 24 3334 c.3320G>T c.(3319-3321)TGG>TTG p.W1107L TTC17_uc010rfj.1_Missense_Mutation_p.W1107L|TTC17_uc001mxl.2_Missense_Mutation_p.W163L|TTC17_uc001mxm.2_Missense_Mutation_p.W88L NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1107 TPR 6. binding ovary(5) 5 GCACTGGTGTGGTATGAATCC 0.478 8 178 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47307069 47307069 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:47307069C>A uc001ner.1 + 14 2670 c.2479C>A c.(2479-2481)CGG>AGG p.R827R MADD_uc001neq.2_Silent_p.R827R|MADD_uc001nev.1_Silent_p.R784R|MADD_uc001nes.1_Silent_p.R784R|MADD_uc001net.1_Silent_p.R827R|MADD_uc009yln.1_Silent_p.R784R|MADD_uc001neu.1_Silent_p.R784R|MADD_uc001nex.2_Silent_p.R827R|MADD_uc001nez.2_Silent_p.R784R|MADD_uc001new.2_Silent_p.R827R NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 827 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) GTCAGACTCTCGGGCAAGCTC 0.567 7 204 --- --- --- --- PASS OR5AS1 219447 broad.mit.edu 37 11 55798388 55798388 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:55798388G>C uc010riw.1 + 1 494 c.494G>C c.(493-495)AGG>ACG p.R165T NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) CTCACATTCAGGCTGTCATTT 0.428 6 65 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861505 55861505 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:55861505C>A uc010rix.1 + 1 722 c.722C>A c.(721-723)GCA>GAA p.A241E NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) TCCACCTGCGCATCCCACCTC 0.498 4 29 --- --- --- --- PASS OR10V1 390201 broad.mit.edu 37 11 59481101 59481101 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:59481101T>C uc001nof.1 - 1 218 c.218A>G c.(217-219)TAT>TGT p.Y73C NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGAAGATGTATAGAAGATTTC 0.453 6 36 --- --- --- --- PASS MS4A7 58475 broad.mit.edu 37 11 60160167 60160167 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:60160167G>T uc001npe.2 + 6 701 c.556G>T c.(556-558)GTG>TTG p.V186L MS4A7_uc001npf.2_Missense_Mutation_p.V186L|MS4A7_uc001npg.2_Missense_Mutation_p.V141L|MS4A7_uc001nph.2_Missense_Mutation_p.V141L|MS4A14_uc001npi.2_Intron NM_206939 NP_996822 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 186 Helical; (Potential). integral to membrane receptor activity ovary(1)|central_nervous_system(1) 2 GGGTGTCCTAGTGGTGATGCT 0.512 24 83 --- --- --- --- PASS DDB1 1642 broad.mit.edu 37 11 61083759 61083759 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:61083759G>T uc001nrc.3 - 12 1634 c.1408C>A c.(1408-1410)CAG>AAG p.Q470K DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.Q470K|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.Q470K NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 470 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 GTTATCACCTGGATAAGCTGC 0.438 NER 10 295 --- --- --- --- PASS KDM2A 22992 broad.mit.edu 37 11 66947553 66947553 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:66947553G>T uc001ojw.2 + 3 910 c.46G>T c.(46-48)GGT>TGT p.G16C KDM2A_uc001ojx.2_RNA NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 TTCCTAGCGTGGTACCATGCG 0.398 5 54 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117307860 117307860 + Silent SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:117307860G>A uc001prh.1 - 26 4880 c.4878C>T c.(4876-4878)TTC>TTT p.F1626F NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1566 Extracellular (Potential).|Fibronectin type-III 6. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCAGGGTGGCGAACTGGGCTG 0.617 13 58 --- --- --- --- PASS BCL9L 283149 broad.mit.edu 37 11 118769284 118769284 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:118769284C>A uc001pug.2 - 8 5305 c.4340G>T c.(4339-4341)AGC>ATC p.S1447I BCL9L_uc009zal.2_Missense_Mutation_p.S1442I NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1447 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGGCGGCTGGCTGTAGACCTC 0.672 3 9 --- --- --- --- PASS UBASH3B 84959 broad.mit.edu 37 11 122653771 122653771 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:122653771G>T uc001pyi.3 + 5 972 c.612G>T c.(610-612)GTG>GTT p.V204V NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing, 204 cytoplasm|nucleus protein tyrosine phosphatase activity central_nervous_system(1) 1 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AAGTGCATGTGGAACCTCATA 0.463 9 280 --- --- --- --- PASS GRAMD1B 57476 broad.mit.edu 37 11 123489412 123489412 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:123489412T>C uc001pyx.2 + 18 2242 c.1913T>C c.(1912-1914)CTG>CCG p.L638P GRAMD1B_uc001pyw.2_Missense_Mutation_p.L645P|GRAMD1B_uc010rzw.1_Missense_Mutation_p.L594P|GRAMD1B_uc010rzx.1_Missense_Mutation_p.L598P|GRAMD1B_uc001pyy.2_Missense_Mutation_p.L325P NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 638 Helical; (Potential). integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CTGGTGCTGCTGGTCATCCTT 0.522 5 17 --- --- --- --- PASS OR6M1 390261 broad.mit.edu 37 11 123676931 123676931 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:123676931T>C uc010rzz.1 - 1 127 c.127A>G c.(127-129)ATC>GTC p.I43V NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AGGGAGATGATGGTGATGTTT 0.418 10 65 --- --- --- --- PASS OR8B4 283162 broad.mit.edu 37 11 124294684 124294684 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:124294684G>T uc010sak.1 - 1 84 c.84C>A c.(82-84)TTC>TTA p.F28L NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGAATAGAAGGAAAAGAGGGA 0.468 14 48 --- --- --- --- PASS OR8B8 26493 broad.mit.edu 37 11 124310527 124310527 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:124310527C>T uc010sal.1 - 1 455 c.455G>A c.(454-456)GGG>GAG p.G152E NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CCCAGCAAACCCCATCCCATA 0.522 10 82 --- --- --- --- PASS KIRREL3 84623 broad.mit.edu 37 11 126333056 126333056 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:126333056G>T uc001qea.2 - 6 1099 c.738C>A c.(736-738)ATC>ATA p.I246I KIRREL3_uc001qeb.2_Silent_p.I246I|KIRREL3_uc001qec.1_Silent_p.I246I NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 246 Extracellular (Potential). hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) ACTCACGCTGGATGTCAATGG 0.607 6 21 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 132177606 132177606 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr11:132177606G>T uc001qgp.2 + 4 1214 c.550G>T c.(550-552)GAA>TAA p.E184* NTM_uc001qgm.2_Nonsense_Mutation_p.E184*|NTM_uc010sch.1_Nonsense_Mutation_p.E175*|NTM_uc010sci.1_Nonsense_Mutation_p.E184*|NTM_uc010scj.1_Nonsense_Mutation_p.E143*|NTM_uc001qgo.2_Nonsense_Mutation_p.E184*|NTM_uc001qgq.2_Nonsense_Mutation_p.E184*|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 184 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GAGTGAAGACGAATACTTGGA 0.493 4 57 --- --- --- --- PASS DCP1B 196513 broad.mit.edu 37 12 2062441 2062441 + Missense_Mutation SNP T G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:2062441T>G uc001qjx.1 - 7 745 c.665A>C c.(664-666)GAA>GCA p.E222A DCP1B_uc010sdy.1_Missense_Mutation_p.E120A NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 222 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) GTGTTGGGGTTCAGGGTCTAA 0.398 6 46 --- --- --- --- PASS NDUFA9 4704 broad.mit.edu 37 12 4791398 4791398 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:4791398G>T uc001qnc.2 + 9 838 c.828G>T c.(826-828)CTG>CTT p.L276L NDUFA9_uc010ses.1_Silent_p.L57L NM_005002 NP_004993 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 276 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) TTTTCCACCTGGTGAAGTACA 0.418 5 54 --- --- --- --- PASS PRB3 5544 broad.mit.edu 37 12 11420857 11420857 + Missense_Mutation SNP T A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:11420857T>A uc001qzs.2 - 3 364 c.326A>T c.(325-327)CAG>CTG p.Q109L PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 109 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) ACCTTGGGACTGGTTTCCTCC 0.627 28 160 --- --- --- --- PASS GUCY2C 2984 broad.mit.edu 37 12 14766078 14766078 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:14766078G>T uc001rcd.2 - 27 3332 c.3195C>A c.(3193-3195)ACC>ACA p.T1065T NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 1065 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 CCTTGTCTGTGGTATTCAGCT 0.438 5 73 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15733040 15733040 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:15733040C>A uc001rcv.1 + 21 3162 c.2988C>A c.(2986-2988)AAC>AAA p.N996K PTPRO_uc001rcw.1_Missense_Mutation_p.N968K|PTPRO_uc001rcx.1_Missense_Mutation_p.N185K|PTPRO_uc001rcy.1_Missense_Mutation_p.N185K|PTPRO_uc001rcz.1_Missense_Mutation_p.N157K|PTPRO_uc001rda.1_Missense_Mutation_p.N157K NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 996 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) TCAATGCCAACTATATTCCTG 0.378 6 20 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32138230 32138230 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:32138230G>T uc001rks.2 + 4 4755 c.4341G>T c.(4339-4341)AAG>AAT p.K1447N C12orf35_uc001rkt.2_5'Flank NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1447 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TAACTCCTAAGGAGTATTTAC 0.353 7 71 --- --- --- --- PASS PLEKHA9 51054 broad.mit.edu 37 12 45568068 45568068 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:45568068G>T uc001rom.1 - 3 618 c.81C>A c.(79-81)TCC>TCA p.S27S PLEKHA9_uc009zke.2_Silent_p.S27S NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) CCTCAGAATTGGACACACCAG 0.408 7 179 --- --- --- --- PASS ASB8 140461 broad.mit.edu 37 12 48547277 48547277 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:48547277C>A uc001rrh.2 - 2 172 c.3G>T c.(1-3)ATG>ATT p.M1I ASB8_uc010slr.1_5'UTR NM_024095 NP_077000 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box-containing 8 1 intracellular signal transduction cytoplasm|nucleus kidney(1) 1 TACTGGAACTCATCAAGGCTC 0.448 5 51 --- --- --- --- PASS GRASP 160622 broad.mit.edu 37 12 52404685 52404685 + Missense_Mutation SNP A T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:52404685A>T uc001rzo.1 + 3 373 c.317A>T c.(316-318)AAG>ATG p.K106M GRASP_uc001rzp.1_Translation_Start_Site NM_181711 NP_859062 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 106 PDZ. cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.0967) ACGTTGGAGAAGGAGGATAAC 0.532 26 161 --- --- --- --- PASS DGKA 1606 broad.mit.edu 37 12 56330863 56330863 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:56330863G>A uc001sij.2 + 3 391 c.127G>A c.(127-129)GTC>ATC p.V43I DGKA_uc009zoc.1_Missense_Mutation_p.V43I|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Intron|DGKA_uc009zoe.1_Missense_Mutation_p.V43I|DGKA_uc001sik.2_Missense_Mutation_p.V43I|DGKA_uc001sil.2_Missense_Mutation_p.V43I|DGKA_uc001sim.2_Missense_Mutation_p.V43I|DGKA_uc001sin.2_Missense_Mutation_p.V43I|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 43 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) GGCTAAATATGTCCAAGGAGA 0.448 27 86 --- --- --- --- PASS ATP5B 506 broad.mit.edu 37 12 57039026 57039026 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:57039026G>T uc001slr.2 - 2 344 c.239C>A c.(238-240)CCA>CAA p.P80Q SNORD59B_uc001sls.1_5'Flank|SNORD59A_uc001slt.1_5'Flank NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 80 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 TAGAATTGGTGGTAGTCCCTC 0.557 5 72 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57595586 57595586 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:57595586G>T uc001snd.2 + 67 10958 c.10492G>T c.(10492-10494)GAG>TAG p.E3498* NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3498 Extracellular (Potential).|LDL-receptor class A 25. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGGTGTGGACGAGTTCCGCTG 0.632 4 78 --- --- --- --- PASS DPY19L2 283417 broad.mit.edu 37 12 64061895 64061895 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:64061895C>A uc001srp.1 - 1 460 c.279G>T c.(277-279)CGG>CGT p.R93R DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 93 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GCACCTTTTCCCGGAGCTGCG 0.607 22 61 --- --- --- --- PASS DPY19L2 283417 broad.mit.edu 37 12 64061896 64061896 + Missense_Mutation SNP C T T rs111719532 TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:64061896C>T uc001srp.1 - 1 459 c.278G>A c.(277-279)CGG>CAG p.R93Q DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 93 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CACCTTTTCCCGGAGCTGCGC 0.607 20 61 --- --- --- --- PASS ACTR6 64431 broad.mit.edu 37 12 100617613 100617613 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:100617613G>T uc001thb.1 + 11 1167 c.1111G>T c.(1111-1113)GAT>TAT p.D371Y ACTR6_uc001thc.1_Missense_Mutation_p.D263Y|ACTR6_uc001thd.1_Missense_Mutation_p.D351Y|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Missense_Mutation_p.D289Y|ACTR6_uc001thf.1_Missense_Mutation_p.D269Y|uc001thg.1_5'Flank NM_022496 NP_071941 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog 371 cytoplasm|cytoskeleton ovary(1) 1 AGAGAATGATGATTTTGAAGA 0.328 6 63 --- --- --- --- PASS CMKLR1 1240 broad.mit.edu 37 12 108686289 108686289 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:108686289G>A uc009zuw.2 - 3 642 c.451C>T c.(451-453)CGC>TGC p.R151C CMKLR1_uc001tmw.2_Missense_Mutation_p.R151C|CMKLR1_uc001tmv.2_Missense_Mutation_p.R149C|CMKLR1_uc009zuv.2_Missense_Mutation_p.R151C NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 151 Cytoplasmic (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 CGAACGCTGCGGTGGTTCTGG 0.572 6 65 --- --- --- --- PASS NAA25 80018 broad.mit.edu 37 12 112486193 112486193 + Nonsense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:112486193C>A uc001ttm.2 - 16 1803 c.1783G>T c.(1783-1785)GAG>TAG p.E595* NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.E567*|NAA25_uc009zwa.1_Nonsense_Mutation_p.E595* NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 595 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 GCGATAAACTCTGGGATCTTC 0.373 9 58 --- --- --- --- PASS PTPN11 5781 broad.mit.edu 37 12 112926888 112926888 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:112926888G>T uc001ttx.2 + 13 1888 c.1508G>T c.(1507-1509)GGG>GTG p.G503V NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 507 Tyrosine-protein phosphatase. G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia). axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.G503A(14)|p.G503V(8)|p.G503E(2)|p.G503L(1)|p.G503R(1) haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 CAGAGGTCAGGGATGGTCCAG 0.468 Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome 31 174 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117768764 117768764 + Missense_Mutation SNP A T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr12:117768764A>T uc001twm.1 - 2 797 c.111T>A c.(109-111)AGT>AGA p.S37R NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 37 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CGGGCGGCTTACTGACCCGCT 0.577 8 41 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32900678 32900678 + Nonsense_Mutation SNP G T T rs80358780 TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr13:32900678G>T uc001uub.1 + 7 786 c.559G>T c.(559-561)GAG>TAG p.E187* BRCA2_uc001uua.1_Nonsense_Mutation_p.E64* NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 187 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding p.E187K(1) ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCTAGGAGCTGAGGTGGATCC 0.378 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 5 66 --- --- --- --- PASS LCP1 3936 broad.mit.edu 37 13 46730577 46730577 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr13:46730577G>T uc001vaz.3 - 5 613 c.487C>A c.(487-489)CTT>ATT p.L163I LCP1_uc001vba.3_Missense_Mutation_p.L163I NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 163 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) ATTTACCAAAGGACAATGCCA 0.383 T BCL6 NHL 6 92 --- --- --- --- PASS UTP14C 9724 broad.mit.edu 37 13 52603078 52603078 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr13:52603078G>T uc001vgb.2 + 2 673 c.138G>T c.(136-138)CTG>CTT p.L46L UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 46 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) AAAAGCTTCTGGAAGCAATCA 0.453 8 149 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77699588 77699588 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr13:77699588C>T uc001vkf.2 - 55 7877 c.7786G>A c.(7786-7788)GGG>AGG p.G2596R MYCBP2_uc010aev.2_Missense_Mutation_p.G2000R|MYCBP2_uc001vkg.1_Missense_Mutation_p.G59R NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACCCATGTCCCTTCAGAATTG 0.443 8 43 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92346109 92346109 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr13:92346109C>A uc010tif.1 + 3 1360 c.994C>A c.(994-996)CTC>ATC p.L332I NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 332 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ACAGGCTCACCTCAATGGACA 0.393 5 60 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 102029299 102029299 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr13:102029299G>T uc001vox.1 - 5 673 c.484C>A c.(484-486)CTG>ATG p.L162M NALCN_uc001voy.2_Translation_Start_Site|NALCN_uc001voz.2_Missense_Mutation_p.L162M|NALCN_uc001vpa.2_Missense_Mutation_p.L162M NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 162 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTCCTTGGCAGTTCAAATCGG 0.368 5 34 --- --- --- --- PASS HECTD1 25831 broad.mit.edu 37 14 31585550 31585550 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:31585550G>C uc001wrc.1 - 30 5999 c.5510C>G c.(5509-5511)ACC>AGC p.T1837S HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.T1305S NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1837 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TCTGAAATTGGTGAGTGGTAA 0.408 3 41 --- --- --- --- PASS SEC23A 10484 broad.mit.edu 37 14 39565184 39565184 + Nonsense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:39565184C>A uc001wup.1 - 2 362 c.139G>T c.(139-141)GAG>TAG p.E47* SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Nonsense_Mutation_p.E47* NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 47 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TCAGGTCTCTCTTTCAGTGGT 0.428 8 72 --- --- --- --- PASS RPL10L 140801 broad.mit.edu 37 14 47120931 47120931 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:47120931G>T uc001wwg.2 - 1 98 c.9C>A c.(7-9)CGC>CGA p.R3R NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 3 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 GAGCTGGACGGCGCCCCATGG 0.557 5 51 --- --- --- --- PASS ATXN3 4287 broad.mit.edu 37 14 92548666 92548666 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:92548666C>A uc001yac.3 - 8 822 c.753G>T c.(751-753)AGG>AGT p.R251S ATXN3_uc010aug.2_Missense_Mutation_p.R236S|ATXN3_uc001yad.3_Missense_Mutation_p.R196S|ATXN3_uc010auh.2_Missense_Mutation_p.R185S|ATXN3_uc001yae.3_Missense_Mutation_p.R153S|ATXN3_uc010twl.1_RNA NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 251 UIM 2. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) GCTGAATAGCCCTGCGGAGAT 0.413 12 49 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95560326 95560326 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:95560326G>T uc001ydw.2 - 25 5445 c.5263C>A c.(5263-5265)CAC>AAC p.H1755N DICER1_uc010avh.1_Missense_Mutation_p.H653N|DICER1_uc001ydv.2_Missense_Mutation_p.H1745N|DICER1_uc001ydx.2_Missense_Mutation_p.H1755N NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1755 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AAGTACTTGTGGTAGTCGTAC 0.507 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 6 77 --- --- --- --- PASS CLMN 79789 broad.mit.edu 37 14 95669862 95669862 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:95669862C>A uc001yef.2 - 9 1940 c.1824G>T c.(1822-1824)AGG>AGT p.R608S NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 608 integral to membrane actin binding 0 Epithelial(152;0.193) ATTTAATACTCCTTTTACCTA 0.443 18 46 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96771996 96771996 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:96771996G>T uc001yfi.2 - 31 5028 c.4663C>A c.(4663-4665)CTT>ATT p.L1555I NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1555 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGCCAGACAAGAGAGACCTCC 0.408 5 54 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106110271 106110271 + RNA SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:106110271C>T uc010tyt.1 - 3642 c.60980G>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_RNA Parts of antibodies, mostly variable regions. 0 GACTGACGGTCCTGCCACAGG 0.627 10 51 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106494206 106494206 + RNA SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:106494206T>C uc010tyt.1 - 1760 c.34792A>G Parts of antibodies, mostly variable regions. 0 ACCTGGTTTTTGGAGGTGTCC 0.517 20 57 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106494324 106494324 + RNA SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr14:106494324G>C uc010tyt.1 - 1760 c.34674C>G Parts of antibodies, mostly variable regions. 0 GACGGATCCAGCCCACACCCA 0.562 5 51 --- --- --- --- PASS TUBGCP5 114791 broad.mit.edu 37 15 22853811 22853811 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:22853811G>T uc001yur.3 + 12 1579 c.1449G>T c.(1447-1449)GGG>GGT p.G483G TUBGCP5_uc001yuq.2_Silent_p.G483G|TUBGCP5_uc010axz.1_Silent_p.G70G NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 483 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TCGTGCACGGGCACCTGTGGG 0.602 4 18 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27222171 27222171 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:27222171G>A uc001zbg.1 + 2 242 c.76G>A c.(76-78)GAA>AAA p.E26K GABRG3_uc001zbf.2_Missense_Mutation_p.E26K NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 26 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GGAAGAGGATGAATATGAAGA 0.428 8 52 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34032134 34032134 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:34032134G>T uc001zhi.2 + 51 7828 c.7758G>T c.(7756-7758)TTG>TTT p.L2586F RYR3_uc010bar.2_Missense_Mutation_p.L2586F NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2586 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGCCACGTTGGAGAAACAGA 0.463 10 49 --- --- --- --- PASS TYRO3 7301 broad.mit.edu 37 15 41856430 41856430 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:41856430G>A uc001zof.1 + 5 853 c.629G>A c.(628-630)GGC>GAC p.G210D NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 210 Ig-like C2-type 2.|Extracellular (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) AACCTAAAAGGCCTGGCCTCT 0.597 12 62 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42742724 42742724 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:42742724G>T uc001zpw.2 - 2 2012 c.1677C>A c.(1675-1677)ACC>ACA p.T559T ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Silent_p.T342T|ZFP106_uc001zpy.1_Silent_p.T582T NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 559 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) CATAGTTCCTGGTACTTTTAG 0.368 6 80 --- --- --- --- PASS WDR76 79968 broad.mit.edu 37 15 44143306 44143306 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:44143306G>T uc001zti.1 + 9 1077 c.1054G>T c.(1054-1056)GGA>TGA p.G352* NM_024908 NP_079184 Q9H967 WDR76_HUMAN WD repeat domain 76 352 WD 1. 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TAAAGAAGATGGAGTTTATGT 0.433 6 87 --- --- --- --- PASS CTDSPL2 51496 broad.mit.edu 37 15 44816320 44816320 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:44816320G>T uc001ztr.2 + 13 1765 c.1349G>T c.(1348-1350)CGA>CTA p.R450L CTDSPL2_uc001zts.2_Missense_Mutation_p.R450L|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R450L|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R378L NM_016396 NP_057480 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 450 phosphoprotein phosphatase activity 0 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) GAAGATGTTCGACCACACATC 0.388 4 50 --- --- --- --- PASS DUOX2 50506 broad.mit.edu 37 15 45402882 45402882 + Silent SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:45402882G>A uc010bea.2 - 8 1112 c.909C>T c.(907-909)CCC>CCT p.P303P DUOX2_uc001zun.2_Silent_p.P303P NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 303 Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GCAGGAAGCTGGGCAGCCACT 0.612 6 21 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54306924 54306924 + Silent SNP A C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:54306924A>C uc002ack.2 + 1 1824 c.1824A>C c.(1822-1824)GGA>GGC p.G608G NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 608 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATTTGAATGGAGGTGTTCAGG 0.512 15 63 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63014652 63014652 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:63014652C>T uc002alb.3 + 23 3092 c.3092C>T c.(3091-3093)ACC>ATC p.T1031I NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1031 Ala-rich. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AACCTGGCCACCAGCTTGGCG 0.627 7 25 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63045984 63045984 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:63045984G>T uc002alb.3 + 33 4345 c.4345G>T c.(4345-4347)GTT>TTT p.V1449F TLN2_uc002alc.3_5'UTR NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1449 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TGCATACTTGGTTGGCATCTC 0.577 6 52 --- --- --- --- PASS PML 5371 broad.mit.edu 37 15 74326832 74326832 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:74326832G>T uc002awv.2 + 7 1811 c.1671G>T c.(1669-1671)GTG>GTT p.V557V PML_uc002awm.2_Silent_p.V557V|PML_uc002awl.2_Missense_Mutation_p.W423L|PML_uc002awj.1_3'UTR|PML_uc002awk.2_Silent_p.V557V|PML_uc002awn.2_Missense_Mutation_p.W560L|PML_uc002awo.2_Silent_p.V509V|PML_uc002awp.2_Intron|PML_uc002awq.2_Missense_Mutation_p.W560L|PML_uc002awr.2_Silent_p.V557V|PML_uc002aws.2_Silent_p.V509V|PML_uc002awt.2_Missense_Mutation_p.W423L|PML_uc002awu.2_Silent_p.V509V|PML_uc010ule.1_Silent_p.V118V|PML_uc002awx.2_Missense_Mutation_p.W270L|PML_uc002awy.2_5'UTR NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 557 Interaction with SUMO1 and sumoylated proteins. VVVI->AAAS: Abolishes SUMO1 binding. cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 AACGCGTTGTGGTGATCAGCA 0.582 T RARA|PAX5 APL|ALL 8 145 --- --- --- --- PASS TMED3 23423 broad.mit.edu 37 15 79606180 79606180 + Nonsense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:79606180C>T uc002beu.2 + 2 351 c.250C>T c.(250-252)CAG>TAG p.Q84* TMED3_uc010unj.1_Nonsense_Mutation_p.Q84*|TMED3_uc002bev.2_RNA NM_007364 NP_031390 Q9Y3Q3 TMED3_HUMAN transmembrane emp24 domain containing 3 84 Lumenal (Potential).|GOLD. protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane ovary(1)|skin(1) 2 AACGAAGAAGCAGTACGACAG 0.473 20 74 --- --- --- --- PASS ARNT2 9915 broad.mit.edu 37 15 80872871 80872871 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:80872871G>T uc002bfr.2 + 16 1899 c.1733G>T c.(1732-1734)CGT>CTT p.R578L ARNT2_uc010unm.1_Missense_Mutation_p.R567L|ARNT2_uc002bfs.2_Missense_Mutation_p.R567L NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 578 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) ACAGGGAGTCGTCCGCCCTTT 0.562 7 38 --- --- --- --- PASS ISG20 3669 broad.mit.edu 37 15 89182735 89182735 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:89182735G>C uc002bmv.1 + 2 431 c.138G>C c.(136-138)GAG>GAC p.E46D ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA NM_002201 NP_002192 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease 46 cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity 0 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) TCCGGCCTGAGGGAGAGATCA 0.637 7 46 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100339997 100339997 + RNA SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:100339997G>C uc010urx.1 - 4 c.930C>G C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|uc002bvq.2_RNA|uc002bvt.1_5'Flank NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 GTGTCTTCTCGTTCCCACGCG 0.612 4 43 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101528851 101528851 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:101528851C>A uc002bwr.2 + 5 765 c.446C>A c.(445-447)CCC>CAC p.P149H LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Missense_Mutation_p.P149H NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 149 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCTGCAGTCCCCAGCGGCTT 0.607 7 130 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2160565 2160565 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr16:2160565G>A uc002cos.1 - 15 4812 c.4603C>T c.(4603-4605)CGC>TGC p.R1535C PKD1_uc002cot.1_Missense_Mutation_p.R1535C NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1535 Extracellular (Potential).|PKD 10. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GCCTCGCTGCGGCTCACCTCA 0.657 12 18 --- --- --- --- PASS TMC5 79838 broad.mit.edu 37 16 19481080 19481080 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr16:19481080G>C uc002dgc.3 + 10 2464 c.1715G>C c.(1714-1716)TGG>TCG p.W572S TMC5_uc010vaq.1_Missense_Mutation_p.W572S|TMC5_uc002dgb.3_Missense_Mutation_p.W572S|TMC5_uc010var.1_Missense_Mutation_p.W572S|TMC5_uc002dgd.1_Missense_Mutation_p.W326S|TMC5_uc002dge.3_Missense_Mutation_p.W326S|TMC5_uc002dgf.3_Missense_Mutation_p.W255S|TMC5_uc002dgg.3_Missense_Mutation_p.W213S NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 572 Cytoplasmic (Potential). integral to membrane skin(1) 1 ATCTTTTGCTGGGACTTCACT 0.448 11 67 --- --- --- --- PASS TMC5 79838 broad.mit.edu 37 16 19481081 19481081 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr16:19481081G>T uc002dgc.3 + 10 2465 c.1716G>T c.(1714-1716)TGG>TGT p.W572C TMC5_uc010vaq.1_Missense_Mutation_p.W572C|TMC5_uc002dgb.3_Missense_Mutation_p.W572C|TMC5_uc010var.1_Missense_Mutation_p.W572C|TMC5_uc002dgd.1_Missense_Mutation_p.W326C|TMC5_uc002dge.3_Missense_Mutation_p.W326C|TMC5_uc002dgf.3_Missense_Mutation_p.W255C|TMC5_uc002dgg.3_Missense_Mutation_p.W213C NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 572 Cytoplasmic (Potential). integral to membrane skin(1) 1 TCTTTTGCTGGGACTTCACTG 0.448 13 67 --- --- --- --- PASS ATXN2L 11273 broad.mit.edu 37 16 28841356 28841356 + Silent SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr16:28841356G>C uc002drc.2 + 8 1179 c.1011G>C c.(1009-1011)CGG>CGC p.R337R uc010vct.1_Intron|ATXN2L_uc010byl.1_Silent_p.R337R|ATXN2L_uc002drb.2_Silent_p.R337R|ATXN2L_uc002dqy.2_Silent_p.R337R|ATXN2L_uc002dra.2_Silent_p.R337R|ATXN2L_uc002dqz.2_Silent_p.R337R|ATXN2L_uc010vdb.1_Silent_p.R337R|ATXN2L_uc002dre.2_Silent_p.R337R|ATXN2L_uc002drf.2_5'UTR NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 337 R -> RG (in Ref. 6; AAB19201). membrane upper_aerodigestive_tract(1)|ovary(1) 2 GCTCAGGGCGGGAGAGCCCCA 0.612 4 16 --- --- --- --- PASS STX1B 112755 broad.mit.edu 37 16 31012876 31012876 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr16:31012876G>T uc010cad.2 - 2 191 c.79C>A c.(79-81)CAC>AAC p.H27N STX1B_uc010vfd.1_Missense_Mutation_p.H27N NM_052874 NP_443106 P61266 STX1B_HUMAN syntaxin 1B 27 Cytoplasmic (Potential). intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity 0 TCCATGAAGTGGTCCCGATCC 0.408 6 36 --- --- --- --- PASS ATP2A3 489 broad.mit.edu 37 17 3850763 3850763 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:3850763C>A uc002fxb.1 - 8 1168 c.1017G>T c.(1015-1017)GTG>GTT p.V339V ATP2A3_uc002fwx.1_Silent_p.V339V|ATP2A3_uc002fwy.1_Silent_p.V339V|ATP2A3_uc002fwz.1_Silent_p.V339V|ATP2A3_uc002fxa.1_Silent_p.V339V|ATP2A3_uc002fxc.1_Silent_p.V339V|ATP2A3_uc002fxd.1_Silent_p.V339V NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 339 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CCAGGGTCTCCACGGACGGCA 0.652 5 59 --- --- --- --- PASS PLD2 5338 broad.mit.edu 37 17 4712418 4712418 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:4712418C>T uc002fzc.2 + 5 508 c.407C>T c.(406-408)GCC>GTC p.A136V PLD2_uc010vsj.1_5'UTR|PLD2_uc002fzd.2_Missense_Mutation_p.A136V NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 136 PX. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) TATTCTCCAGCCCGAGATGCA 0.582 29 76 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577534 7577534 + Missense_Mutation SNP C A A rs28934571 TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:7577534C>A uc002gim.2 - 7 941 c.747G>T c.(745-747)AGG>AGT p.R249S TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 249 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.P250fs*14(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) TGAGGATGGGCCTCCGGTTCA 0.572 111 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) 15 30 --- --- --- --- PASS CHD3 1107 broad.mit.edu 37 17 7806032 7806032 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:7806032C>A uc002gje.2 + 21 3507 c.3357C>A c.(3355-3357)ATC>ATA p.I1119I CHD3_uc002gjd.2_Silent_p.I1178I|CHD3_uc002gjf.2_Silent_p.I1119I|CHD3_uc002gjh.2_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1119 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) AGGAGGCCATCGATCGGTTTA 0.547 4 53 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10298626 10298626 + Missense_Mutation SNP C G G rs61730807 byFrequency TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:10298626C>G uc002gmm.2 - 34 4881 c.4786G>C c.(4786-4788)GTC>CTC p.V1596L uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1596 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GTCTCCACGACTCTAGTGTGG 0.428 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 11 43 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11514974 11514974 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:11514974G>T uc002gne.2 + 4 849 c.781G>T c.(781-783)GAT>TAT p.D261Y DNAH9_uc002gnd.1_Missense_Mutation_p.D261Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 261 Stem (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) CAGGTATGAAGATCTGAAATA 0.458 12 45 --- --- --- --- PASS FLII 2314 broad.mit.edu 37 17 18149711 18149711 + Silent SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:18149711G>A uc002gsr.1 - 24 3168 c.3117C>T c.(3115-3117)ATC>ATT p.I1039I FLII_uc002gsq.1_Silent_p.I910I|FLII_uc010cpy.1_Silent_p.I1028I|FLII_uc010vxn.1_Silent_p.I1008I|FLII_uc010vxo.1_Silent_p.I984I NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 1039 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) CCCGGTGGATGATGAACTTCC 0.632 15 106 --- --- --- --- PASS FBXW10 10517 broad.mit.edu 37 17 18682490 18682490 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:18682490T>C uc002guk.2 + 14 3270 c.3038T>C c.(3037-3039)GTT>GCT p.V1013A FBXW10_uc002guj.2_Missense_Mutation_p.V1012A|FBXW10_uc002gul.2_Missense_Mutation_p.V1022A|FBXW10_uc010cqh.1_Missense_Mutation_p.V960A|FAM18B_uc002gum.2_5'Flank NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 1013 ovary(1) 1 ACTGGAGTGGTTGATCCAGGA 0.502 9 40 --- --- --- --- PASS RAB34 83871 broad.mit.edu 37 17 27042864 27042864 + Nonsense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:27042864C>A uc002hce.2 - 4 892 c.268G>T c.(268-270)GAG>TAG p.E90* RAB34_uc002hcg.2_Nonsense_Mutation_p.E90*|RAB34_uc002hcf.2_Nonsense_Mutation_p.E91*|RAB34_uc010was.1_Nonsense_Mutation_p.E147*|RAB34_uc010wat.1_Nonsense_Mutation_p.E147*|RAB34_uc002hch.2_Nonsense_Mutation_p.E90*|RAB34_uc010wau.1_Nonsense_Mutation_p.E68*|RAB34_uc010wav.1_Nonsense_Mutation_p.E148* NM_031934 NP_114140 Q9BZG1 RAB34_HUMAN Ras-related protein RAB34 isoform 1 90 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 Lung NSC(42;0.00431) CGTTCCATCTCGAAGTCCACT 0.547 5 115 --- --- --- --- PASS SLFN5 162394 broad.mit.edu 37 17 33592328 33592328 + Silent SNP C T T rs149671075 by1000genomes TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:33592328C>T uc002hjf.3 + 5 2214 c.2097C>T c.(2095-2097)CCC>CCT p.P699P SLFN5_uc010wcg.1_3'UTR NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 699 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TCCCCCCTCCCTCAGACCAGT 0.493 16 63 --- --- --- --- PASS TUBG2 27175 broad.mit.edu 37 17 40812318 40812318 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:40812318C>A uc010wgr.1 + 3 570 c.314C>A c.(313-315)GCC>GAC p.A105D TUBG2_uc002iaq.2_5'UTR|TUBG2_uc002iar.2_5'UTR|TUBG2_uc002ias.2_5'UTR|TUBG2_uc002iap.2_5'UTR NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 105 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) AACAACTGGGCCAGCGGATTC 0.542 4 44 --- --- --- --- PASS C17orf57 124989 broad.mit.edu 37 17 45507265 45507265 + Missense_Mutation SNP A G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:45507265A>G uc002iln.2 + 24 2987 c.2576A>G c.(2575-2577)GAC>GGC p.D859G C17orf57_uc002ilm.2_Missense_Mutation_p.D763G NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 859 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 TTATTGATGGACAAGGACCTT 0.383 3 45 --- --- --- --- PASS HOXB3 3213 broad.mit.edu 37 17 46629716 46629716 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:46629716T>C uc002inn.2 - 1 521 c.121A>G c.(121-123)ACG>GCG p.T41A HOXB3_uc010wlm.1_5'UTR|HOXB3_uc010dbf.2_Missense_Mutation_p.T41A|HOXB3_uc010dbg.2_Missense_Mutation_p.T41A|HOXB3_uc002ino.2_Missense_Mutation_p.T41A|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_5'UTR NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 41 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCCAGGTGCGTGGCGGCCTGA 0.647 3 25 --- --- --- --- PASS CA10 56934 broad.mit.edu 37 17 50008357 50008357 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:50008357C>A uc002itw.3 - 3 1258 c.272G>T c.(271-273)GGC>GTC p.G91V CA10_uc002itv.3_Missense_Mutation_p.G97V|CA10_uc002itx.3_Missense_Mutation_p.G91V|CA10_uc002ity.3_Missense_Mutation_p.G91V|CA10_uc002itz.2_Missense_Mutation_p.G91V NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 91 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TACCTTCCTGCCCCCCGTGTT 0.493 20 117 --- --- --- --- PASS MED13 9969 broad.mit.edu 37 17 60042580 60042580 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:60042580G>T uc002izo.2 - 20 4708 c.4631C>A c.(4630-4632)TCC>TAC p.S1544Y NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1544 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 ATTCAAGTTGGAGGATGATGA 0.418 6 72 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62036742 62036742 + Silent SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:62036742G>A uc002jds.1 - 12 1979 c.1902C>T c.(1900-1902)CCC>CCT p.P634P NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 634 II. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) AATACTCGTAGGGGTCCATGG 0.572 8 38 --- --- --- --- PASS ST6GALNAC1 55808 broad.mit.edu 37 17 74622817 74622817 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr17:74622817G>T uc002jsh.2 - 5 1401 c.1227C>A c.(1225-1227)TCC>TCA p.S409S ST6GALNAC1_uc002jsi.2_Silent_p.S277S|ST6GALNAC1_uc002jsj.2_RNA NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 409 Lumenal (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 AGCCGTAGAAGGATGTCCGAG 0.532 11 323 --- --- --- --- PASS EMILIN2 84034 broad.mit.edu 37 18 2892094 2892094 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr18:2892094C>A uc002kln.2 + 4 2128 c.1969C>A c.(1969-1971)CCG>ACG p.P657T NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 657 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) GGACACCCTGCCGTCCCCCCA 0.552 6 46 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13073110 13073110 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr18:13073110C>A uc010xac.1 + 30 5622 c.5542C>A c.(5542-5544)CGA>AGA p.R1848R CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.R1373R|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.R270R|CEP192_uc002krw.2_5'UTR|CEP192_uc002krx.2_5'UTR NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1848 ovary(4)|pancreas(1) 5 TGCACCTACTCGATTATCTTG 0.383 6 87 --- --- --- --- PASS DSG3 1830 broad.mit.edu 37 18 29045295 29045295 + Missense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr18:29045295G>A uc002kws.2 + 10 1395 c.1286G>A c.(1285-1287)CGT>CAT p.R429H NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 429 Cadherin 4.|Extracellular (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTCATGGGACGTAACGATGGT 0.269 9 48 --- --- --- --- PASS CNDP1 84735 broad.mit.edu 37 18 72245452 72245452 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr18:72245452G>T uc002llq.2 + 9 1268 c.1057G>T c.(1057-1059)GAG>TAG p.E353* CNDP1_uc002lls.2_Nonsense_Mutation_p.E156* NM_032649 NP_116038 Q96KN2 CNDP1_HUMAN carnosinase 1 precursor 353 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity 0 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TCATGGGATCGAGGGCGCGTT 0.423 4 58 --- --- --- --- PASS AP3D1 8943 broad.mit.edu 37 19 2121290 2121290 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:2121290C>A uc002luz.2 - 13 1345 c.1122G>T c.(1120-1122)ATG>ATT p.M374I AP3D1_uc002luy.2_Missense_Mutation_p.M283I|AP3D1_uc002lva.2_Missense_Mutation_p.M374I NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 374 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCACGATCTCCATCAGGTTCT 0.562 6 83 --- --- --- --- PASS PLIN4 729359 broad.mit.edu 37 19 4511796 4511796 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:4511796G>T uc002mar.1 - 3 2134 c.2134C>A c.(2134-2136)CTA>ATA p.L712I PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 712 19.|27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane 0 GTACCAGTTAGGACAGTCTTG 0.592 10 344 --- --- --- --- PASS ARRDC5 645432 broad.mit.edu 37 19 4891523 4891523 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:4891523G>T uc002mbm.2 - 3 564 c.564C>A c.(562-564)GTC>GTA p.V188V NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 188 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) TTTGCAAACAGACAGTGCCCT 0.537 6 32 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9048368 9048368 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:9048368G>T uc002mkp.2 - 5 33467 c.33263C>A c.(33262-33264)CCA>CAA p.P11088Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11090 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGAAACAGTTGGAGTTGGAAC 0.483 5 70 --- --- --- --- PASS ELAVL3 1995 broad.mit.edu 37 19 11565633 11565633 + Missense_Mutation SNP G T T rs144639070 TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:11565633G>T uc002mry.1 - 7 1192 c.812C>A c.(811-813)GCG>GAG p.A271E ELAVL3_uc002mrx.1_Missense_Mutation_p.A264E NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 271 cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 GCCCACGCCCGCCAGGCCGCT 0.577 20 58 --- --- --- --- PASS ZNF491 126069 broad.mit.edu 37 19 11917126 11917126 + Nonsense_Mutation SNP A T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:11917126A>T uc002mso.1 + 3 643 c.358A>T c.(358-360)AGA>TGA p.R120* NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 120 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AAGCATTCGAAGATATATGGT 0.398 16 58 --- --- --- --- PASS ZNF20 7568 broad.mit.edu 37 19 12244153 12244153 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:12244153T>C uc002mtf.1 - 4 991 c.848A>G c.(847-849)TAT>TGT p.Y283C ZNF20_uc002mte.1_Missense_Mutation_p.Y248C|ZNF20_uc002mtg.1_Missense_Mutation_p.Y283C NM_021143 NP_066966 P17024 ZNF20_HUMAN zinc finger protein 20 283 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTACACTCATAGGGTTTTTC 0.393 4 54 --- --- --- --- PASS CASP14 23581 broad.mit.edu 37 19 15164418 15164418 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:15164418C>A uc010dzv.1 + 3 461 c.153C>A c.(151-153)ACC>ACA p.T51T CASP14_uc002naf.2_Silent_p.T51T NM_012114 NP_036246 P31944 CASPE_HUMAN caspase 14 precursor 51 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity skin(2)|ovary(1)|lung(1) 4 TCGAAAGCACCATGAAAAGAG 0.552 7 135 --- --- --- --- PASS CYP4F12 66002 broad.mit.edu 37 19 15794350 15794350 + Missense_Mutation SNP T A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:15794350T>A uc002nbl.2 + 7 756 c.695T>A c.(694-696)GTA>GAA p.V232E NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) AGTGCCCTTGTAGAGAAAAGA 0.547 15 63 --- --- --- --- PASS OR10H2 26538 broad.mit.edu 37 19 15839195 15839195 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:15839195G>T uc002nbm.2 + 1 362 c.342G>T c.(340-342)CTG>CTT p.L114L NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) ACTCCTTCCTGCTCACCGTCA 0.647 5 24 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19338255 19338255 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:19338255C>A uc002nlz.2 + 8 1925 c.1826C>A c.(1825-1827)GCC>GAC p.A609D NCAN_uc010ecc.1_Missense_Mutation_p.A173D NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 609 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CCCTTGGAGGCCACTGTCTCA 0.652 5 23 --- --- --- --- PASS ZNF430 80264 broad.mit.edu 37 19 21205610 21205610 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:21205610G>T uc002npj.2 + 2 129 c.19G>T c.(19-21)GGA>TGA p.G7* ZNF430_uc002npk.2_Nonsense_Mutation_p.G7* NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 CCTGAAGTCTGGAGTGTATCC 0.443 5 66 --- --- --- --- PASS ZNF254 9534 broad.mit.edu 37 19 24309473 24309473 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:24309473C>T uc002nru.2 + 4 805 c.671C>T c.(670-672)ACC>ATC p.T224I ZNF254_uc010xrk.1_Missense_Mutation_p.T139I NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 224 C2H2-type 1; degenerate. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TGGTCCTCAACCCTTACTAAT 0.328 5 33 --- --- --- --- PASS DPY19L3 147991 broad.mit.edu 37 19 32923703 32923703 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:32923703C>T uc002ntg.2 + 4 495 c.319C>T c.(319-321)CTC>TTC p.L107F DPY19L3_uc002nth.1_Missense_Mutation_p.L107F NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 107 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) GGCTCCAACCCTCGTGCAAGG 0.413 5 34 --- --- --- --- PASS LGALS13 29124 broad.mit.edu 37 19 40097949 40097949 + Silent SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:40097949C>T uc002omb.2 + 4 430 c.390C>T c.(388-390)ATC>ATT p.I130I NM_013268 NP_037400 Q9UHV8 PP13_HUMAN galectin-13 130 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding ovary(1) 1 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CGAGAGATATCTCCCTGACCT 0.468 5 41 --- --- --- --- PASS ATP1A3 478 broad.mit.edu 37 19 42485885 42485885 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:42485885G>T uc002osg.2 - 10 1445 c.1291C>A c.(1291-1293)CCT>ACT p.P431T ATP1A3_uc010xwf.1_Missense_Mutation_p.P442T|ATP1A3_uc010xwg.1_Missense_Mutation_p.P401T|ATP1A3_uc010xwh.1_Missense_Mutation_p.P444T|ATP1A3_uc002osh.2_Missense_Mutation_p.P431T NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 431 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 TTGAGCACAGGGATGTTGTCC 0.592 7 33 --- --- --- --- PASS ZNF284 342909 broad.mit.edu 37 19 44590805 44590805 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:44590805G>T uc002oyg.1 + 5 1390 c.1174G>T c.(1174-1176)GTC>TTC p.V392F ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 392 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) ACATCAGCGGGTCCACAATGG 0.433 33 94 --- --- --- --- PASS SYT3 84258 broad.mit.edu 37 19 51133130 51133130 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:51133130C>A uc002pst.2 - 3 1607 c.973G>T c.(973-975)GAC>TAC p.D325Y SYT3_uc002psv.2_Missense_Mutation_p.D325Y|SYT3_uc010ycd.1_Missense_Mutation_p.D325Y NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 325 C2 1.|Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GCAGGGAGGTCCAGGGCCTGC 0.587 11 57 --- --- --- --- PASS LILRB4 11006 broad.mit.edu 37 19 55179385 55179385 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:55179385G>T uc002qgp.2 + 12 1624 c.1262G>T c.(1261-1263)AGA>ATA p.R421I LILRB4_uc002qgq.2_Missense_Mutation_p.R420I|LILRB4_uc002qgr.2_Missense_Mutation_p.R463I|LILRB4_uc010ert.2_Missense_Mutation_p.R462I|LILRB4_uc010eru.2_Missense_Mutation_p.R451I NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 421 Cytoplasmic (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) TTTACCCTCAGACAGAAGGCA 0.622 9 77 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57642748 57642748 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr19:57642748G>C uc002qny.2 + 4 3061 c.2705G>C c.(2704-2706)AGC>ACC p.S902T NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 902 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CGGCTACCTAGCACACAGGCA 0.498 11 55 --- --- --- --- PASS RRBP1 6238 broad.mit.edu 37 20 17610501 17610501 + Nonsense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:17610501C>A uc002wpv.1 - 10 1771 c.1417G>T c.(1417-1419)GAG>TAG p.E473* RRBP1_uc002wpu.2_Nonsense_Mutation_p.E247*|RRBP1_uc002wpw.1_Nonsense_Mutation_p.E473*|RRBP1_uc010gcl.1_Nonsense_Mutation_p.E247*|RRBP1_uc010gcm.1_Silent_p.P58P NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 906 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 TGGGCCTTCTCGGCATCCGCC 0.711 8 10 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20505152 20505152 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:20505152C>A uc002wrz.2 - 30 3941 c.3798G>T c.(3796-3798)TGG>TGT p.W1266C RALGAPA2_uc010gcx.2_Missense_Mutation_p.W970C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.W714C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W38C NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1266 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 ATGCCATGCACCAGTCCAAGA 0.502 12 49 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20505153 20505153 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:20505153C>A uc002wrz.2 - 30 3940 c.3797G>T c.(3796-3798)TGG>TTG p.W1266L RALGAPA2_uc010gcx.2_Missense_Mutation_p.W970L|RALGAPA2_uc010zsg.1_Missense_Mutation_p.W714L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W38L NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1266 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TGCCATGCACCAGTCCAAGAG 0.502 12 46 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 30956834 30956834 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:30956834G>T uc002wxs.2 + 3 586 c.160G>T c.(160-162)GCA>TCA p.A54S ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 54 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TTCCCCTCTCGCATGCCTCAA 0.438 F|N|Mis MDS|CMML 10 49 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33337933 33337933 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:33337933G>T uc002xav.2 - 10 4636 c.2065C>A c.(2065-2067)CCA>ACA p.P689T NCOA6_uc002xaw.2_Missense_Mutation_p.P689T NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 689 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 ATCATTTGTGGGCCCTGCTGG 0.547 5 56 --- --- --- --- PASS RBM12 10137 broad.mit.edu 37 20 34241817 34241817 + Silent SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:34241817T>C uc002xdq.2 - 3 1660 c.1428A>G c.(1426-1428)GTA>GTG p.V476V CPNE1_uc010zvj.1_5'UTR|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Silent_p.V476V|RBM12_uc002xds.2_Silent_p.V476V NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 476 RRM 2. nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TTCTGAACTCTACAAAGCCTT 0.373 OREG0004044 type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 33 107 --- --- --- --- PASS ACTR5 79913 broad.mit.edu 37 20 37384652 37384652 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:37384652C>A uc002xjd.2 + 5 1171 c.1146C>A c.(1144-1146)CTC>CTA p.L382L NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog 382 Potential. DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding 0 Myeloproliferative disorder(115;0.00878) AAGTCAACCTCGAGGTGGATG 0.532 4 39 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40735489 40735489 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:40735489C>A uc002xkg.2 - 24 3511 c.3327G>T c.(3325-3327)GTG>GTT p.V1109V PTPRT_uc010ggj.2_Silent_p.V1128V|PTPRT_uc010ggi.2_Silent_p.V312V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1109 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGATGTCCACCACCCCTTCAT 0.572 5 58 --- --- --- --- PASS R3HDML 140902 broad.mit.edu 37 20 42965955 42965955 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:42965955G>T uc002xls.1 + 1 330 c.158G>T c.(157-159)CGC>CTC p.R53L NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 53 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) CCCAGGTACCGCCGGAAGCGC 0.597 6 20 --- --- --- --- PASS PCK1 5105 broad.mit.edu 37 20 56137948 56137948 + Silent SNP T A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:56137948T>A uc002xyn.3 + 4 766 c.603T>A c.(601-603)CCT>CCA p.P201P PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 201 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GCCCTCTGCCTTTACAAAGTA 0.532 7 28 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57769790 57769790 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:57769790G>C uc002yan.2 + 1 3716 c.3716G>C c.(3715-3717)GGA>GCA p.G1239A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1239 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CCTGGAGAAGGAGGGCCGGCG 0.597 4 10 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57829123 57829123 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:57829123C>A uc002yan.2 + 5 4359 c.4359C>A c.(4357-4359)TCC>TCA p.S1453S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1453 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TGCTGGCCTCCCAGGATTCAG 0.522 6 63 --- --- --- --- PASS C20orf11 54994 broad.mit.edu 37 20 61576136 61576136 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:61576136G>T uc002ydy.2 + 5 736 c.559G>T c.(559-561)GAG>TAG p.E187* NM_017896 NP_060366 Q9NWU2 CT011_HUMAN chromosome 20 open reading frame 11 187 nucleus protein binding 0 Breast(26;5.68e-08) TGAAAATCGCGAGTCAACACC 0.418 4 71 --- --- --- --- PASS COL20A1 57642 broad.mit.edu 37 20 61959481 61959481 + Splice_Site SNP T A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:61959481T>A uc011aau.1 + 33 3713 c.3613_splice c.e33+2 p.S1205_splice COL20A1_uc011aav.1_Nonsense_Mutation_p.C1026* NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GCCAGGCCTGTGAGTCTGCCA 0.647 3 14 --- --- --- --- PASS ZNF512B 57473 broad.mit.edu 37 20 62595499 62595499 + Missense_Mutation SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr20:62595499C>G uc002yhl.1 - 8 1459 c.1405G>C c.(1405-1407)GCC>CCC p.A469P NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TTCTTCCGGGCGTCCTCAGGG 0.662 9 36 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47847543 47847543 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr21:47847543C>A uc002zji.3 + 34 7435 c.7328C>A c.(7327-7329)CCC>CAC p.P2443H PCNT_uc002zjj.2_Missense_Mutation_p.P2325H NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2443 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TAGGAAGTGCCCACCGCGTGC 0.458 6 47 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22735419 22735419 + RNA SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:22735419C>A uc011aim.1 + 46 c.5215C>A Parts of antibodies, mostly variable regions. 0 GGGTCCTGGGCCCAGTCTGTG 0.577 7 53 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22735420 22735420 + RNA SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:22735420C>A uc011aim.1 + 46 c.5216C>A Parts of antibodies, mostly variable regions. 0 GGTCCTGGGCCCAGTCTGTGC 0.577 6 52 --- --- --- --- PASS ZNF280B 140883 broad.mit.edu 37 22 22843151 22843151 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:22843151C>A uc002zwc.1 - 4 1349 c.573G>T c.(571-573)AGG>AGT p.R191S LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TAATTCCATCCCTGAGTTTAG 0.383 10 68 --- --- --- --- PASS CHCHD10 400916 broad.mit.edu 37 22 24108318 24108318 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:24108318G>T uc002zxw.2 - 3 486 c.406C>A c.(406-408)CAT>AAT p.H136N NM_213720 NP_998885 Q8WYQ3 CHC10_HUMAN coiled-coil-helix-coiled-coil-helix domain 136 mitochondrion 0 CACTCACCATGGTAGTACTTG 0.627 5 29 --- --- --- --- PASS RFPL1 5988 broad.mit.edu 37 22 29837623 29837623 + Missense_Mutation SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:29837623C>T uc003afn.2 + 2 675 c.466C>T c.(466-468)CGG>TGG p.R156W RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 156 B30.2/SPRY. zinc ion binding 0 CACACAGAATCGGCAAGACCT 0.552 21 64 --- --- --- --- PASS PATZ1 23598 broad.mit.edu 37 22 31741322 31741322 + Silent SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:31741322G>A uc003akq.2 - 1 928 c.267C>T c.(265-267)GGC>GGT p.G89G PATZ1_uc003akp.2_Silent_p.G89G|PATZ1_uc003akr.2_Silent_p.G89G|PATZ1_uc003aks.2_Silent_p.G89G|uc003akt.2_5'Flank NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 89 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 CTGCCGTCGCGCCCCCTACAT 0.682 5 9 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 34000433 34000433 + Silent SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:34000433T>C uc003and.3 - 6 1182 c.603A>G c.(601-603)GCA>GCG p.A201A LARGE_uc003ane.3_Silent_p.A201A|LARGE_uc010gwp.2_Silent_p.A201A|LARGE_uc011ame.1_Silent_p.A133A|LARGE_uc011amf.1_Silent_p.A201A NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 201 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) TGAGCTCGTCTGCATTGTAGA 0.547 8 71 --- --- --- --- PASS TOM1 10043 broad.mit.edu 37 22 35723368 35723368 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:35723368G>T uc003ann.2 + 7 878 c.753G>T c.(751-753)CTG>CTT p.L251L TOM1_uc011ami.1_Silent_p.L218L|TOM1_uc011amj.1_Silent_p.L94L|TOM1_uc003ans.2_Silent_p.L94L|TOM1_uc011amk.1_Silent_p.L213L|TOM1_uc003anp.2_Silent_p.L251L|TOM1_uc011aml.1_Silent_p.L206L|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Silent_p.L245L|TOM1_uc003anr.2_Silent_p.L94L NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 251 GAT. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 CCGCAGACCTGGAGCTGCTGC 0.627 9 20 --- --- --- --- PASS MB 4151 broad.mit.edu 37 22 36003352 36003352 + Nonsense_Mutation SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:36003352G>A uc003anz.2 - 3 537 c.457C>T c.(457-459)CAG>TAG p.Q153* MB_uc003aoa.2_Nonsense_Mutation_p.Q153*|MB_uc003aob.2_Nonsense_Mutation_p.Q153* NM_005368 NP_005359 P02144 MYG_HUMAN myoglobin 153 heme binding|oxygen transporter activity 0 GCCTAGCCCTGGAAGCCCAGC 0.622 6 42 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 40045840 40045840 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:40045840C>A uc003ayc.2 + 10 1902 c.1902C>A c.(1900-1902)CGC>CGA p.R634R CACNA1I_uc003ayd.2_Silent_p.R599R|CACNA1I_uc003aye.2_Silent_p.R549R|CACNA1I_uc003ayf.2_Silent_p.R514R NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 634 II.|Cytoplasmic (Potential). 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) CCAAGCTGCGCGGCATCGTGG 0.532 8 30 --- --- --- --- PASS ENTHD1 150350 broad.mit.edu 37 22 40217076 40217076 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:40217076G>T uc003ayg.2 - 5 1005 c.754C>A c.(754-756)CTA>ATA p.L252I NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 252 ovary(2)|skin(1) 3 Melanoma(58;0.0749) GGTGTTGCTAGTAAAGGCAGC 0.398 5 25 --- --- --- --- PASS RANGAP1 5905 broad.mit.edu 37 22 41647034 41647034 + Missense_Mutation SNP C A A rs139565299 TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:41647034C>A uc003azs.2 - 12 2930 c.1460G>T c.(1459-1461)AGG>ATG p.R487M RANGAP1_uc003azt.2_Missense_Mutation_p.R487M|RANGAP1_uc003azu.2_Missense_Mutation_p.R487M|RANGAP1_uc003azr.2_Translation_Start_Site|RANGAP1_uc010gyk.2_Translation_Start_Site|RANGAP1_uc011aoz.1_Missense_Mutation_p.R432M NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 487 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 CACTGCCATCCTCACAGTAGC 0.557 6 75 --- --- --- --- PASS TCF20 6942 broad.mit.edu 37 22 42609031 42609031 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr22:42609031G>T uc003bcj.1 - 1 2415 c.2281C>A c.(2281-2283)CAC>AAC p.H761N TCF20_uc003bck.1_Missense_Mutation_p.H761N|TCF20_uc003bnt.2_Missense_Mutation_p.H761N NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GGGTGGTGGTGGTAACCCTGA 0.502 5 66 --- --- --- --- PASS GYG2 8908 broad.mit.edu 37 X 2795308 2795308 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:2795308C>A uc004cqs.1 + 11 1586 c.1304C>A c.(1303-1305)GCT>GAT p.A435D GYG2_uc004cqt.1_Missense_Mutation_p.A404D|GYG2_uc004cqu.1_Missense_Mutation_p.A403D|GYG2_uc004cqv.1_Intron|GYG2_uc004cqw.1_Missense_Mutation_p.A395D|GYG2_uc004cqx.1_Intron|GYG2_uc010ndc.1_Intron NM_003918 NP_003909 O15488 GLYG2_HUMAN glycogenin 2 isoform b 435 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity ovary(1)|kidney(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAACTCCCTGCTGAGGCTCTC 0.547 8 56 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5821666 5821666 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:5821666G>T uc010ndh.2 - 5 1554 c.1053C>A c.(1051-1053)GAC>GAA p.D351E NLGN4X_uc004crp.2_Missense_Mutation_p.D371E|NLGN4X_uc004crq.2_Missense_Mutation_p.D351E|NLGN4X_uc010ndi.2_Missense_Mutation_p.D388E|NLGN4X_uc004crr.2_Missense_Mutation_p.D351E|NLGN4X_uc010ndj.2_Missense_Mutation_p.D351E NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 351 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCTGGGGGTCGTCTGGGATGA 0.597 11 62 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17743832 17743832 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:17743832G>T uc004cxx.2 + 6 1881 c.1543G>T c.(1543-1545)GGT>TGT p.G515C NHS_uc011mix.1_Missense_Mutation_p.G536C|NHS_uc004cxy.2_Missense_Mutation_p.G359C|NHS_uc004cxz.2_Missense_Mutation_p.G338C|NHS_uc004cya.2_Missense_Mutation_p.G238C NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 515 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) GTCTTTTGTGGGTGACCATGA 0.547 7 107 --- --- --- --- PASS GPR64 10149 broad.mit.edu 37 X 19013118 19013118 + Missense_Mutation SNP T A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:19013118T>A uc004cyx.2 - 28 2929 c.2765A>T c.(2764-2766)CAA>CTA p.Q922L GPR64_uc004cyy.2_Missense_Mutation_p.Q919L|GPR64_uc004cyz.2_Missense_Mutation_p.Q908L|GPR64_uc004czb.2_Intron|GPR64_uc004czc.2_Missense_Mutation_p.Q906L|GPR64_uc004czd.2_Missense_Mutation_p.Q898L|GPR64_uc004cze.2_Missense_Mutation_p.Q892L|GPR64_uc004czf.2_Missense_Mutation_p.Q884L|GPR64_uc004cza.2_Missense_Mutation_p.Q900L|GPR64_uc004cyw.2_Intron|GPR64_uc010nfj.2_Missense_Mutation_p.Q803L NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 922 Cytoplasmic (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) GGACACTCCTTGGTTTACAGT 0.423 15 70 --- --- --- --- PASS GPR64 10149 broad.mit.edu 37 X 19018072 19018072 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:19018072G>T uc004cyx.2 - 25 2401 c.2237C>A c.(2236-2238)CCA>CAA p.P746Q GPR64_uc004cyy.2_Missense_Mutation_p.P743Q|GPR64_uc004cyz.2_Missense_Mutation_p.P732Q|GPR64_uc004czb.2_Missense_Mutation_p.P746Q|GPR64_uc004czc.2_Missense_Mutation_p.P730Q|GPR64_uc004czd.2_Missense_Mutation_p.P722Q|GPR64_uc004cze.2_Missense_Mutation_p.P716Q|GPR64_uc004czf.2_Missense_Mutation_p.P708Q|GPR64_uc004cza.2_Missense_Mutation_p.P724Q|GPR64_uc004cyw.2_Missense_Mutation_p.P730Q|GPR64_uc010nfj.2_Missense_Mutation_p.P627Q NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 746 Helical; Name=4; (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) AACCACAGCTGGTACCCCTGG 0.328 20 104 --- --- --- --- PASS PDHA1 5160 broad.mit.edu 37 X 19373469 19373469 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:19373469C>A uc004czg.3 + 7 751 c.606C>A c.(604-606)GGC>GGA p.G202G PDHA1_uc004czh.3_Silent_p.G237G|PDHA1_uc011mjc.1_Silent_p.G206G|PDHA1_uc011mjd.1_Silent_p.G168G|PDHA1_uc010nfk.2_Silent_p.G199G|PDHA1_uc010nfl.2_5'UTR NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 202 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) ACTTCCAGGGCCAGATATTCG 0.438 22 135 --- --- --- --- PASS TAB3 257397 broad.mit.edu 37 X 30873249 30873249 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:30873249G>T uc004dcj.2 - 6 1196 c.533C>A c.(532-534)CCA>CAA p.P178Q TAB3_uc004dck.2_Missense_Mutation_p.P178Q|TAB3_uc010ngl.2_Missense_Mutation_p.P178Q NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 178 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 AGGTGGCGGTGGTGGTGAAGG 0.488 19 81 --- --- --- --- PASS USP9X 8239 broad.mit.edu 37 X 40994071 40994071 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:40994071G>T uc004dfb.2 + 5 1049 c.416G>T c.(415-417)GGC>GTC p.G139V USP9X_uc004dfc.2_Missense_Mutation_p.G139V NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 139 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GCAGTGAGTGGCTGGAAGTTT 0.393 5 59 --- --- --- --- PASS WAS 7454 broad.mit.edu 37 X 48545326 48545326 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:48545326G>T uc004dkm.3 + 7 773 c.716G>T c.(715-717)GGT>GTT p.G239V NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 239 CRIB. blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) GCTGATATTGGTGCACCCAGT 0.542 Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome 5 23 --- --- --- --- PASS AKAP4 8852 broad.mit.edu 37 X 49958015 49958015 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:49958015G>T uc004dow.1 - 5 1473 c.1349C>A c.(1348-1350)TCT>TAT p.S450Y AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S272Y|AKAP4_uc004dou.1_Missense_Mutation_p.S441Y NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 450 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) AGCTTTTAAAGATGCATATGA 0.448 19 77 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53610791 53610791 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:53610791G>T uc004dsp.2 - 42 5649 c.5247C>A c.(5245-5247)GGC>GGA p.G1749G HUWE1_uc004dsn.2_Silent_p.G574G NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1749 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CTTCTGTCAAGCCCTGGATCA 0.498 11 38 --- --- --- --- PASS KLF8 11279 broad.mit.edu 37 X 56296637 56296637 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:56296637C>A uc004dur.2 + 5 1727 c.781C>A c.(781-783)CAG>AAG p.Q261K KLF8_uc011mop.1_Intron|KLF8_uc010nkh.2_RNA NM_007250 NP_009181 O95600 KLF8_HUMAN Kruppel-like factor 8 isoform 1 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGCCCAAATGCAGGGAGAAGA 0.418 13 46 --- --- --- --- PASS MSN 4478 broad.mit.edu 37 X 64957195 64957195 + Missense_Mutation SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:64957195C>G uc004dwf.2 + 10 1444 c.1246C>G c.(1246-1248)CAG>GAG p.Q416E NM_002444 NP_002435 P26038 MOES_HUMAN moesin 416 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 GACTCAGGAACAGCTGGTAAA 0.517 T ALK ALCL 7 23 --- --- --- --- PASS KIF4A 24137 broad.mit.edu 37 X 69510564 69510564 + Silent SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:69510564C>G uc004dyg.2 + 3 271 c.144C>G c.(142-144)TCC>TCG p.S48S KIF4A_uc010nkw.2_Silent_p.S48S|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.1_Silent_p.S48S NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 48 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 CAGATAAATCCTTCACCTACG 0.453 13 55 --- --- --- --- PASS MAGEE2 139599 broad.mit.edu 37 X 75003990 75003990 + Silent SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:75003990C>A uc004ecj.1 - 1 1082 c.897G>T c.(895-897)CTG>CTT p.L299L NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 299 ovary(1)|skin(1) 2 AGCCAGCAGTCAGGCTTCTTT 0.468 8 76 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79999630 79999630 + Silent SNP A G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:79999630A>G uc004edt.2 - 8 977 c.714T>C c.(712-714)GCT>GCC p.A238A BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Silent_p.A67A|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 238 WD 3. ovary(4) 4 AGCTGCCTGCAGCAATAAGAG 0.453 8 43 --- --- --- --- PASS ZNF711 7552 broad.mit.edu 37 X 84502603 84502603 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:84502603G>T uc004eeo.2 + 3 372 c.25G>T c.(25-27)GGA>TGA p.G9* ZNF711_uc004eep.2_Nonsense_Mutation_p.G9*|ZNF711_uc004eeq.2_Nonsense_Mutation_p.G9* NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 9 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 TGGAAGTCTTGGATTGCACAC 0.338 6 83 --- --- --- --- PASS CHM 1121 broad.mit.edu 37 X 85218784 85218784 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:85218784C>A uc004eet.2 - 5 618 c.588G>T c.(586-588)ATG>ATT p.M196I CHM_uc011mqz.1_Missense_Mutation_p.M48I NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 196 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) CATTTTCACTCATGTCTTCTG 0.373 6 37 --- --- --- --- PASS SYTL4 94121 broad.mit.edu 37 X 99955935 99955935 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:99955935C>A uc004egd.3 - 7 853 c.497G>T c.(496-498)TGG>TTG p.W166L SYTL4_uc010nnc.2_Missense_Mutation_p.W166L|SYTL4_uc004ege.3_Missense_Mutation_p.W166L|SYTL4_uc004egf.3_Missense_Mutation_p.W166L|SYTL4_uc004egg.3_Missense_Mutation_p.W166L NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 166 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTTCCTGGCCAGATGTCACC 0.423 15 71 --- --- --- --- PASS SERPINA7 6906 broad.mit.edu 37 X 105280734 105280734 + Missense_Mutation SNP C G G TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:105280734C>G uc004eme.1 - 1 332 c.316G>C c.(316-318)GTA>CTA p.V106L SERPINA7_uc010npd.2_Missense_Mutation_p.V106L|SERPINA7_uc010npe.1_Missense_Mutation_p.V106L NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 106 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) TGGATCTCTACCATTGGAGTG 0.478 15 51 --- --- --- --- PASS ACSL4 2182 broad.mit.edu 37 X 108926550 108926550 + Nonsense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:108926550C>A uc004eoi.2 - 4 671 c.166G>T c.(166-168)GGA>TGA p.G56* ACSL4_uc004eoj.2_Nonsense_Mutation_p.G15*|ACSL4_uc004eok.2_Nonsense_Mutation_p.G15*|ACSL4_uc010npp.1_Nonsense_Mutation_p.G56* NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 56 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) TATGGACTTCCAGGTTTGTCT 0.408 6 92 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123554415 123554415 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:123554415G>T uc004euj.2 - 24 4771 c.4707C>A c.(4705-4707)ACC>ACA p.T1569T ODZ1_uc011muj.1_Silent_p.T1575T|ODZ1_uc010nqy.2_Silent_p.T1576T NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1569 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CAGAATTGTAGGTGAAGTTAT 0.493 9 47 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128724198 128724198 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:128724198G>C uc004euq.2 + 24 2822 c.2657G>C c.(2656-2658)CGT>CCT p.R886P OCRL_uc004eur.2_Missense_Mutation_p.R878P|OCRL_uc010nrb.2_RNA NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 886 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 GACCGCCAGCGTGCTATTCAG 0.502 36 161 --- --- --- --- PASS ZDHHC9 51114 broad.mit.edu 37 X 128957775 128957775 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:128957775G>T uc004euv.2 - 4 736 c.367C>A c.(367-369)CCG>ACG p.P123T ZDHHC9_uc004euw.2_Missense_Mutation_p.P123T|ZDHHC9_uc004eux.1_Missense_Mutation_p.P123T|ZDHHC9_uc004euy.1_Missense_Mutation_p.P50T NM_001008222 NP_001008223 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC domain containing 9 123 Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 ATACGAGGCGGTGGTCGCTGG 0.488 12 81 --- --- --- --- PASS RBMX 27316 broad.mit.edu 37 X 135961564 135961564 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:135961564C>A uc004fae.1 - 2 233 c.23G>T c.(22-24)GGA>GTA p.G8V RBMX_uc011mwf.1_Missense_Mutation_p.G8V|RBMX_uc004fad.1_Missense_Mutation_p.G8V|RBMX_uc011mwg.1_5'UTR|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 8 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) GAAGAGCTTTCCTGGGCGATC 0.408 21 112 --- --- --- --- PASS RBMX 27316 broad.mit.edu 37 X 135961565 135961565 + Nonsense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:135961565C>A uc004fae.1 - 2 232 c.22G>T c.(22-24)GGA>TGA p.G8* RBMX_uc011mwf.1_Nonsense_Mutation_p.G8*|RBMX_uc004fad.1_Nonsense_Mutation_p.G8*|RBMX_uc011mwg.1_Translation_Start_Site|RBMX_uc004faf.1_Translation_Start_Site|RBMX_uc010nsf.1_Intron|RBMX_uc004fag.1_Intron|SNORD61_uc004fah.1_5'Flank NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 8 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) AAGAGCTTTCCTGGGCGATCT 0.408 21 113 --- --- --- --- PASS MAGEC2 51438 broad.mit.edu 37 X 141291217 141291217 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:141291217C>A uc004fbu.1 - 3 905 c.557G>T c.(556-558)CGT>CTT p.R186L NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 186 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CATGAACTCACGGGCTCTCTT 0.483 HNSCC(46;0.14) 30 201 --- --- --- --- PASS AFF2 2334 broad.mit.edu 37 X 148037578 148037578 + Missense_Mutation SNP G C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:148037578G>C uc004fcp.2 + 11 2482 c.2003G>C c.(2002-2004)AGA>ACA p.R668T AFF2_uc004fcq.2_Missense_Mutation_p.R658T|AFF2_uc004fcr.2_Missense_Mutation_p.R629T|AFF2_uc011mxb.1_Missense_Mutation_p.R633T|AFF2_uc004fcs.2_Missense_Mutation_p.R635T|AFF2_uc011mxc.1_Missense_Mutation_p.R309T NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 668 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GACCCACCAAGAGGCCGCAAC 0.517 34 163 --- --- --- --- PASS MTM1 4534 broad.mit.edu 37 X 149814185 149814185 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:149814185G>T uc004fef.3 + 9 784 c.708G>T c.(706-708)AAG>AAT p.K236N MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.K199N|MTM1_uc011mxz.1_Missense_Mutation_p.K121N|MTM1_uc010nte.2_Missense_Mutation_p.K104N NM_000252 NP_000243 Q13496 MTM1_HUMAN myotubularin 236 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAGAAAATAAGACGGTCATTG 0.378 9 45 --- --- --- --- PASS GPR50 9248 broad.mit.edu 37 X 150345263 150345263 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:150345263C>A uc010ntg.1 + 1 205 c.70C>A c.(70-72)CCA>ACA p.P24T uc004fes.1_Intron|GPR50_uc011myc.1_Missense_Mutation_p.P24T NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 24 Extracellular (Potential). cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GCCAGAATACCCACCGGCTCT 0.522 14 70 --- --- --- --- PASS GPR50 9248 broad.mit.edu 37 X 150349094 150349094 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:150349094C>A uc010ntg.1 + 2 1174 c.1039C>A c.(1039-1041)CGT>AGT p.R347S uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 347 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CGACCAAGCTCGTGAACAAGA 0.592 5 85 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150911903 150911903 + Missense_Mutation SNP C A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:150911903C>A uc004fey.1 + 7 1152 c.928C>A c.(928-930)CCA>ACA p.P310T NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 310 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTGGGTTTACCCAAACATCAC 0.493 8 175 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150912080 150912080 + Nonsense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:150912080G>T uc004fey.1 + 7 1329 c.1105G>T c.(1105-1107)GGA>TGA p.G369* NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 369 Helical; Name=H5; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CACCATCGTGGGAAATGTGGG 0.512 19 103 --- --- --- --- PASS MAGEA6 4105 broad.mit.edu 37 X 151870096 151870096 + Silent SNP C T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:151870096C>T uc004ffq.1 + 3 980 c.786C>T c.(784-786)CCC>CCT p.P262P MAGEA6_uc004ffr.1_Silent_p.P262P|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 262 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) GGCAGGTCCCCGGCAGTGATC 0.527 22 120 --- --- --- --- PASS PLXNB3 5365 broad.mit.edu 37 X 153043055 153043055 + Missense_Mutation SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:153043055G>T uc004fii.2 + 31 5347 c.5173G>T c.(5173-5175)GTC>TTC p.V1725F PLXNB3_uc010nuk.2_Missense_Mutation_p.V1748F|PLXNB3_uc011mzd.1_Missense_Mutation_p.V1364F|SRPK3_uc004fik.2_5'UTR NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1725 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCATCGCCGTCAAGTACCT 0.592 5 184 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153588595 153588595 + Missense_Mutation SNP T C C TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:153588595T>C uc004fkk.2 - 22 3817 c.3568A>G c.(3568-3570)AGC>GGC p.S1190G FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.S1190G NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1190 Filamin 10. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGCTCCGCGCTGCCCGCGCTC 0.642 OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 36 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153588596 153588596 + Silent SNP G T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:153588596G>T uc004fkk.2 - 22 3816 c.3567C>A c.(3565-3567)GGC>GGA p.G1189G FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.G1189G NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1189 Filamin 10. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTCCGCGCTGCCCGCGCTCG 0.642 OREG0003593 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 36 --- --- --- --- PASS PLXNA3 55558 broad.mit.edu 37 X 153689015 153689015 + Silent SNP G A A TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chrX:153689015G>A uc004flm.2 + 2 665 c.492G>A c.(490-492)AAG>AAA p.K164K NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 164 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGCCCAGCAAGCTGTTTGTGG 0.627 26 90 --- --- --- --- PASS FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA - - TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr4:1019055_1019056delCA uc003gce.2 + 7 1596_1597 c.1435_1436delCA c.(1435-1437)CACfs p.H479fs FGFRL1_uc003gcf.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.2_Frame_Shift_Del_p.H479fs NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich.|Cytoplasmic (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.460 4 2 --- --- --- --- LOC340094 340094 broad.mit.edu 37 5 5057794 5057795 + RNA INS - T T TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr5:5057794_5057795insT uc003jdg.2 + 3 c.428_429insT LOC340094_uc003jdh.2_RNA NR_026994 Homo sapiens hypothetical protein LOC340094, mRNA (cDNA clone IMAGE:5295461). 0 TCCAACACATATTTTTTTTGAA 0.361 7 7 --- --- --- --- TDRG1 732253 broad.mit.edu 37 6 40347103 40347104 + RNA INS - C C rs148319526 by1000genomes TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr6:40347103_40347104insC uc003opg.2 + 2 c.557_558insC NR_024015 Homo sapiens cDNA clone IMAGE:5297318. 0 GAACTGGGAAGCCCCCCCACCC 0.515 3 6 --- --- --- --- Unknown 0 broad.mit.edu 37 7 149578672 149578673 + RNA INS - G G rs147389970 by1000genomes TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr7:149578672_149578673insG uc003wgt.1 + 1 c.109_110insG Homo sapiens cDNA clone IMAGE:40014135. GCTGGCTGGGCGGTGGGGCGGA 0.604 3 7 --- --- --- --- Unknown 0 broad.mit.edu 37 9 102842 102842 + RNA DEL G - - TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr9:102842delG uc003zfy.2 - 1 c.100delC Homo sapiens chromosome 2 mRNA sequence. GTCAGCACGTGGCACTCAGCT 0.388 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 9 132106612 132106612 + RNA DEL A - - TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr9:132106612delA uc004bxu.2 + 1 c.918delA Homo sapiens cDNA clone IMAGE:6277875, partial cds. AGCGGCATTGAAAAAACCCTC 0.343 4 2 --- --- --- --- LOC84856 84856 broad.mit.edu 37 10 42990170 42990170 + RNA DEL G - - TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr10:42990170delG uc001izy.2 + 5 c.1691delG LOC84856_uc009xmf.2_RNA|LOC84856_uc001izz.1_RNA NR_026827 Homo sapiens cDNA FLJ33470 fis, clone BRAMY2002044. 0 taccacgtttggttTCAAATG 0.090 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 15 67155912 67155912 + RNA DEL A - - TCGA-66-2734-01A-01D-0983-08 TCGA-66-2734-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 9f7a24a2-10e2-4039-ad27-13d7ec28ff36 e18d5713-e75d-49ca-857e-0d974b3a0282 g.chr15:67155912delA uc002aqh.1 + 1 c.3272delA uc002aqi.2_5'Flank Homo sapiens mRNA; cDNA DKFZp686F0429 (from clone DKFZp686F0429). agatgtggctaaaatgccacc 0.025 OREG0023212 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 2 --- --- --- ---