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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample VWA1 64856 broad.mit.edu 37 1 1374720 1374720 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:1374720G>T uc001afs.2 + 3 1111 c.891G>T c.(889-891)CTG>CTT p.L297L VWA1_uc001afr.2_Silent_p.L85L NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 297 Fibronectin type-III 1. basement membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCCAGATCCTGCGGGTGCGCA 0.766 NaN 1 0 0.004672 0.004672 0.00475046 3 0 CLCNKA 1187 broad.mit.edu 37 1 16353844 16353844 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:16353844C>A uc001axu.2 + 8 775 c.695C>A c.(694-696)TCT>TAT p.S232Y CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.S232Y|CLCNKA_uc010obw.1_Missense_Mutation_p.S189Y|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 232 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TCCCACTTCTCTGTCCGGGAT 0.647 NaN 1 0 3.00167e-28 0.00361 3.47672e-28 57 4 ECE1 1889 broad.mit.edu 37 1 21582529 21582529 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:21582529C>G uc001bek.2 - 8 1006 c.931G>C c.(931-933)GAG>CAG p.E311Q ECE1_uc001bem.2_Missense_Mutation_p.E295Q|ECE1_uc001bej.2_Missense_Mutation_p.E299Q|ECE1_uc001bei.2_Missense_Mutation_p.E308Q|ECE1_uc010odl.1_Missense_Mutation_p.E311Q|ECE1_uc009vqa.1_Missense_Mutation_p.E311Q NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 311 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) AGTGCCGTCTCAAAGTCCAAG 0.602 NaN 0 0 0 0.010771 0 36 8 NBPF3 84224 broad.mit.edu 37 1 21795335 21795335 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:21795335G>T uc001ber.2 + 3 638 c.288G>T c.(286-288)CAG>CAT p.Q96H NBPF3_uc001bes.2_Missense_Mutation_p.Q40H|NBPF3_uc009vqb.2_Missense_Mutation_p.Q96H|NBPF3_uc010odm.1_Intron NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 96 cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACCTCAAACAGAAATGTCTTG 0.458 NaN OREG0013205 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.5997e-14 0.002299 3.9692e-14 16 0 NBPF3 84224 broad.mit.edu 37 1 21795351 21795351 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:21795351C>G uc001ber.2 + 3 654 c.304C>G c.(304-306)CAA>GAA p.Q102E NBPF3_uc001bes.2_Missense_Mutation_p.Q46E|NBPF3_uc009vqb.2_Missense_Mutation_p.Q102E|NBPF3_uc010odm.1_Intron NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 102 cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCTTGTAACTCAAGTGGCCTA 0.453 NaN OREG0013205 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003163 0 10 0 FGR 2268 broad.mit.edu 37 1 27949568 27949568 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:27949568T>C uc001boj.2 - 2 460 c.314A>G c.(313-315)CAC>CGC p.H105R FGR_uc001bok.2_Missense_Mutation_p.H105R|FGR_uc001bol.2_Missense_Mutation_p.H105R|FGR_uc001bom.2_Missense_Mutation_p.H105R NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 105 SH3. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GTTCAGGATGTGGAACTTCTC 0.383 NaN 0 0 0 0.00361 0 38 0 CSMD2 114784 broad.mit.edu 37 1 34083156 34083156 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:34083156C>A uc001bxn.1 - 38 5798 c.5769G>T c.(5767-5769)GAG>GAT p.E1923D CSMD2_uc001bxm.1_Missense_Mutation_p.E1963D|CSMD2_uc001bxo.1_Missense_Mutation_p.E836D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1923 Sushi 11.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCAAGTAGCGCTCGCCAGTCT 0.567 NaN 1 0 4.3181e-19 0.002836 4.9076e-19 30 1 THRAP3 9967 broad.mit.edu 37 1 36769407 36769407 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:36769407G>A uc001cae.3 + 12 2881 c.2657G>A c.(2656-2658)CGT>CAT p.R886H THRAP3_uc001caf.3_Missense_Mutation_p.R886H|C1orf113_uc010oia.1_5'Flank NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 886 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) CATGATGACCGTGAAGGCGAA 0.587 NaN T USP6 aneurysmal bone cysts 0 0 0 0.00361 0 68 8 MACF1 23499 broad.mit.edu 37 1 39800781 39800781 + Nonsense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:39800781G>T uc010oiu.1 + 1 3972 c.3841G>T c.(3841-3843)GAA>TAA p.E1281* 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 2846 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) AAAGAGCAGGGAAATTTCCTT 0.363 NaN 1 0 1.33834e-09 0.007413 1.42385e-09 16 3 NT5C1A 84618 broad.mit.edu 37 1 40131301 40131301 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:40131301G>A uc001cdq.1 - 3 325 c.325C>T c.(325-327)CGG>TGG p.R109W NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 109 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCCCGCAGCCGCCTGTTCACG 0.562 NaN 0 0 0 0.003271 0 27 1 RNF11 26994 broad.mit.edu 37 1 51702486 51702486 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:51702486C>G uc001csi.3 + 1 542 c.58C>G c.(58-60)CAG>GAG p.Q20E NM_014372 NP_055187 Q9Y3C5 RNF11_HUMAN ring finger protein 11 20 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex DNA binding|protein binding|zinc ion binding 0 TCACGAGTCTCAGTCCGACCG 0.637 NaN 0 0 0 0.004878 0 33 2 MRPL37 51253 broad.mit.edu 37 1 54670971 54670971 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:54670971G>A uc001cxa.3 + 3 611 c.534G>A c.(532-534)CCG>CCA p.P178P MRPL37_uc009vzp.2_Intron|MRPL37_uc001cxb.1_Silent_p.P178P|MRPL37_uc001cxc.3_5'UTR|MRPL37_uc010oob.1_RNA NM_016491 NP_057575 Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 precursor 178 translation mitochondrial ribosome structural constituent of ribosome 0 CTTCAAGCCCGGTCATCGTGG 0.448 NaN 0 0 0 0.00499 0 16 3 C1orf173 127254 broad.mit.edu 37 1 75039034 75039034 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:75039034T>A uc001dgg.2 - 14 2579 c.2360A>T c.(2359-2361)GAC>GTC p.D787V NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 787 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTGTACTATGTCAGCATCTCT 0.517 NaN 0 0 0 0.00361 0 60 2 LRRC8D 55144 broad.mit.edu 37 1 90398656 90398656 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:90398656T>A uc001dnm.2 + 3 454 c.29T>A c.(28-30)CTT>CAT p.L10H LRRC8D_uc001dnn.2_Missense_Mutation_p.L10H NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 10 integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GTTGCATCACTTAATGACATT 0.378 NaN 0 0 0 0.004482 0 5 46 ZNF644 84146 broad.mit.edu 37 1 91404364 91404364 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:91404364C>G uc001dnw.2 - 3 2689 c.2547G>C c.(2545-2547)AAG>AAC p.K849N ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.K849N NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 849 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AACTATCTTTCTTTTCAGCAG 0.358 NaN 0 0 0 0.001368 0 10 3 HFM1 164045 broad.mit.edu 37 1 91784664 91784664 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:91784664A>G uc001doa.3 - 25 2883 c.2783T>C c.(2782-2784)CTG>CCG p.L928P HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.L607P|HFM1_uc001dob.3_Intron|HFM1_uc010osv.1_Missense_Mutation_p.L612P NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 928 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GGATACATGCAGAGAGTTTTC 0.338 NaN 0 0 0 0.007291 0 20 5 NTNG1 22854 broad.mit.edu 37 1 107979293 107979293 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:107979293A>T uc001dvh.3 + 7 1980 c.1262A>T c.(1261-1263)TAT>TTT p.Y421F NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Missense_Mutation_p.Y387F|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 421 Laminin EGF-like 3. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ACAGAGTGTTATTGTAACCCT 0.453 NaN 0 0 0 0.008871 0 15 18 PTPN22 26191 broad.mit.edu 37 1 114380599 114380599 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:114380599G>C uc001eds.2 - 13 1553 c.1423C>G c.(1423-1425)CAA>GAA p.Q475E PTPN22_uc009wgq.2_Missense_Mutation_p.Q420E|PTPN22_uc010owo.1_Missense_Mutation_p.Q231E|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.Q475E|PTPN22_uc009wgs.2_Missense_Mutation_p.Q348E|PTPN22_uc001edu.2_Missense_Mutation_p.Q475E NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 475 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCATGTGGTTGAGATTCCAAA 0.393 NaN 0 0 0 0.00874 0 34 2 PDE4DIP 9659 broad.mit.edu 37 1 144864173 144864173 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:144864173G>A uc001elw.3 - 36 6213 c.5922C>T c.(5920-5922)TTC>TTT p.F1974F NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1868F|PDE4DIP_uc001elv.3_Silent_p.F981F|PDE4DIP_uc001ema.2_Silent_p.F161F NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1974 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTCCTCCCTGAAATGCAAGA 0.458 NaN T PDGFRB MPD 0 0 0 0.006214 0 8 321 PDE4DIP 9659 broad.mit.edu 37 1 144877097 144877097 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:144877097G>A uc001elw.3 - 28 4881 c.4590C>T c.(4588-4590)TTC>TTT p.F1530F NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1486F|PDE4DIP_uc001elv.3_Silent_p.F537F NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1530 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTGCTCCCGGAAGCTCTGTC 0.493 NaN T PDGFRB MPD 0 0 0 0.010729 0 10 13 NBPF10 100132406 broad.mit.edu 37 1 146399628 146399628 + Splice_Site SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:146399628G>T uc001emp.3 + 14 2577 c.1379_splice c.e14+1 p.R460_splice uc010ozk.1_Splice_Site NM_017940 NP_060410 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC55672 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTGCCCCCAGGTAACACTGAA 0.418 NaN 1 0 2.79145e-41 0.00361 3.29629e-41 40 485 TARS2 80222 broad.mit.edu 37 1 150478109 150478109 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:150478109G>C uc001euq.2 + 17 1943 c.1936G>C c.(1936-1938)GAT>CAT p.D646H TARS2_uc001eur.2_Missense_Mutation_p.D564H|TARS2_uc009wlt.2_Missense_Mutation_p.D272H|TARS2_uc009wls.2_Missense_Mutation_p.D516H|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 646 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGTGACCTGGATGCAGACTC 0.532 NaN 0 0 0 0.00361 0 40 185 PRUNE 58497 broad.mit.edu 37 1 151006538 151006538 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:151006538G>A uc001ewh.1 + 8 1326 c.1190G>A c.(1189-1191)GGA>GAA p.G397E PRUNE_uc001ewi.1_Missense_Mutation_p.G215D|PRUNE_uc010pco.1_Missense_Mutation_p.G165D|PRUNE_uc001ewj.1_Missense_Mutation_p.G112D|PRUNE_uc001ewk.1_Missense_Mutation_p.G162D|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN prune 397 Essential for homodimerization. cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGATTTCTGGCCTGAGTCAA 0.562 NaN 0 0 0 0.002299 0 18 102 FLG2 388698 broad.mit.edu 37 1 152328035 152328035 + Missense_Mutation SNP A A C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:152328035A>C uc001ezw.3 - 3 2300 c.2227T>G c.(2227-2229)TCT>GCT p.S743A uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 743 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAAAGCCAGAGGACTGACCT 0.507 NaN 0 0 0 0.008291 0 11 621 CRTC2 200186 broad.mit.edu 37 1 153921785 153921785 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:153921785C>G uc010ped.1 - 12 1550 c.1480G>C c.(1480-1482)GTT>CTT p.V494L DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.V30L NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 494 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GTAGGCAGAACCAGACTTGGG 0.582 NaN 0 0 0 0.010504 0 16 119 NUP210L 91181 broad.mit.edu 37 1 153998045 153998045 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:153998045G>A uc001fdw.2 - 30 4167 c.4095C>T c.(4093-4095)GTC>GTT p.V1365V NUP210L_uc009woq.2_Silent_p.V274V|NUP210L_uc010peh.1_Silent_p.V1365V NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1365 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTGTTTGGTTGACTCCAAAAG 0.413 NaN 0 0 0 0.00361 0 113 50 PYGO2 90780 broad.mit.edu 37 1 154932130 154932130 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:154932130G>A uc001fft.2 - 3 552 c.346C>T c.(346-348)CCA>TCA p.P116S NM_138300 NP_612157 Q9BRQ0 PYGO2_HUMAN pygopus homolog 2 116 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding skin(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTGTAGCCTGGGGGTACCTGG 0.682 NaN 0 0 0 0.004007 0 12 2 ADAM15 8751 broad.mit.edu 37 1 155030787 155030787 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:155030787G>A uc001fgr.1 + 15 1888 c.1787G>A c.(1786-1788)CGG>CAG p.R596Q ADAM15_uc001fgq.1_Missense_Mutation_p.R281Q|ADAM15_uc010pet.1_Missense_Mutation_p.R580Q|ADAM15_uc010peu.1_Missense_Mutation_p.R613Q|ADAM15_uc001fgt.1_Missense_Mutation_p.R596Q|ADAM15_uc010pev.1_Missense_Mutation_p.R606Q|ADAM15_uc001fgs.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgu.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgw.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgv.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgx.1_Missense_Mutation_p.R596Q|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'UTR NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 596 Extracellular (Potential).|Cys-rich. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GGCTCCATCCGGGATCTACTC 0.597 NaN 0 0 0 0.007413 0 13 65 NES 10763 broad.mit.edu 37 1 156640230 156640230 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:156640230C>T uc001fpq.2 - 4 3883 c.3750G>A c.(3748-3750)CAG>CAA p.Q1250Q NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1250 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGCCCTCCCCTGCACCCCCC 0.662 NaN 0 0 0 0.00361 0 49 216 OR10R2 343406 broad.mit.edu 37 1 158450082 158450082 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:158450082G>C uc010pik.1 + 1 415 c.415G>C c.(415-417)GGT>CGT p.G139R uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 139 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) GGGTGTGATGGGTTATGATCG 0.488 NaN 0 0 0 0.00361 0 341 134 OR6N2 81442 broad.mit.edu 37 1 158747267 158747267 + Silent SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:158747267T>C uc010pir.1 - 1 159 c.159A>G c.(157-159)GCA>GCG p.A53A NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TGTGCAGAGCTGCATCCAGTC 0.463 NaN 0 0 0 0.00361 0 174 58 CADM3 57863 broad.mit.edu 37 1 159166685 159166685 + Nonsense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:159166685C>T uc001ftl.2 + 7 929 c.787C>T c.(787-789)CAG>TAG p.Q263* CADM3_uc009wsy.1_Nonsense_Mutation_p.Q217*|CADM3_uc001ftk.2_Nonsense_Mutation_p.Q297*|uc001ftm.1_RNA NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 263 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) CGACAGCCCCCAGCAGTACCT 0.527 NaN 0 0 0 0.00361 0 92 30 CRP 1401 broad.mit.edu 37 1 159683378 159683378 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:159683378G>A uc001ftw.2 - 2 716 c.612C>T c.(610-612)AAC>AAT p.N204N CRP_uc001ftx.1_Silent_p.N71N|CRP_uc001fty.1_RNA NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 204 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GTGCCCGCCAGTTCAGGACAT 0.532 NaN 0 0 0 0.012319 0 20 120 NCSTN 23385 broad.mit.edu 37 1 160326392 160326392 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:160326392G>T uc001fvx.2 + 15 1766 c.1642G>T c.(1642-1644)GAC>TAC p.D548Y NCSTN_uc001fvy.2_Missense_Mutation_p.D528Y|NCSTN_uc010pjf.1_Missense_Mutation_p.D410Y|NCSTN_uc001fvz.2_Missense_Mutation_p.D328Y|NCSTN_uc010pjg.1_Missense_Mutation_p.D290Y NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 548 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCACTCAGGTGACGGGCCTCT 0.512 NaN 1 0 2.93687e-30 0.00361 3.4315e-30 48 251 SLAMF6 114836 broad.mit.edu 37 1 160466111 160466111 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:160466111G>A uc001fwe.1 - 2 182 c.122C>T c.(121-123)CCC>CTC p.P41L SLAMF6_uc001fwd.1_Missense_Mutation_p.P41L|SLAMF6_uc010pjh.1_Intron|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Intron NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 41 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) AAACTCCAGGGGAAGAGTTAC 0.438 NaN 0 0 0 0.00361 0 47 412 NDUFS2 4720 broad.mit.edu 37 1 161176202 161176202 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:161176202G>A uc001fyv.2 + 4 656 c.208G>A c.(208-210)GAC>AAC p.D70N NDUFS2_uc010pki.1_5'UTR|NDUFS2_uc001fyw.2_Missense_Mutation_p.D70N|NDUFS2_uc010pkj.1_Missense_Mutation_p.D19N|NDUFS2_uc001fyx.2_Missense_Mutation_p.D70N|NDUFS2_uc001fyy.1_Missense_Mutation_p.D19N NM_004550 NP_004541 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2 70 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding skin(1) 1 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) CTCAGATGTGGACCCTCCAAA 0.473 NaN 0 0 0 0.004007 0 12 98 RXRG 6258 broad.mit.edu 37 1 165414106 165414106 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:165414106T>C uc001gda.2 - 1 325 c.25A>G c.(25-27)ATG>GTG p.M9V RXRG_uc001gdb.1_Missense_Mutation_p.M9V NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 9 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GGAAACTTCATGAAGTGAGAA 0.473 NaN 0 0 0 0.00361 0 51 108 LRRC52 440699 broad.mit.edu 37 1 165532930 165532930 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:165532930G>C uc001gde.2 + 2 867 c.811G>C c.(811-813)GTG>CTG p.V271L LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 271 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TGTGTGTGCTGTGCTCTACCA 0.582 NaN 0 0 0 0.001368 0 12 95 ILDR2 387597 broad.mit.edu 37 1 166891923 166891923 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:166891923T>C uc001gdx.1 - 8 1174 c.1118A>G c.(1117-1119)TAT>TGT p.Y373C NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 373 Cytoplasmic (Potential). integral to membrane ovary(1) 1 ACCTGACCAATAGTCAGGATT 0.552 NaN 0 0 0 0.00361 0 313 252 CD247 919 broad.mit.edu 37 1 167487650 167487650 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:167487650A>T uc001gei.3 - 1 198 c.53T>A c.(52-54)ATT>AAT p.I18N CD247_uc001gej.3_Missense_Mutation_p.I18N|CD247_uc001gek.2_Missense_Mutation_p.I18N NM_198053 NP_932170 P20963 CD3Z_HUMAN T-cell receptor zeta chain isoform 1 precursor 18 interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity 0 LUSC - Lung squamous cell carcinoma(543;0.236) CCTACCTGTAATCGGCAACTG 0.587 NaN 0 0 0 0.002299 0 15 145 DCAF6 55827 broad.mit.edu 37 1 167962475 167962475 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:167962475G>A uc001gew.2 + 7 942 c.700G>A c.(700-702)GGT>AGT p.G234S DCAF6_uc001gev.2_Missense_Mutation_p.G234S|DCAF6_uc001gex.2_Missense_Mutation_p.G234S|DCAF6_uc010plk.1_Missense_Mutation_p.G203S|DCAF6_uc001gey.2_Missense_Mutation_p.G87S NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 234 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GAATTATGCAGGTCGAGGGAC 0.303 NaN 0 0 0 0.00361 0 44 57 FMO2 2327 broad.mit.edu 37 1 171162616 171162616 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:171162616G>A uc001ghk.1 + 3 392 c.275G>A c.(274-276)AGG>AAG p.R92K FMO2_uc010pmd.1_5'UTR NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 92 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAATATTTCAGGATTTTTGCT 0.343 NaN 0 0 0 0.00308 0 7 58 TNN 63923 broad.mit.edu 37 1 175086217 175086217 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:175086217G>A uc001gkl.1 + 10 2375 c.2262G>A c.(2260-2262)CCG>CCA p.P754P NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 754 Fibronectin type-III 6. 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) GGGAGGTTCCGGTGGGGAAGG 0.637 NaN 0 0 0 0.001855 0 5 146 KIF14 9928 broad.mit.edu 37 1 200558410 200558410 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:200558410G>T uc010ppk.1 - 18 3488 c.3049C>A c.(3049-3051)CAT>AAT p.H1017N KIF14_uc010ppj.1_Missense_Mutation_p.H526N NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1017 Potential.|Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TGTTCAAGATGCTGCTTTGCC 0.323 NaN 1 0 6.49762e-13 0.006122 7.09412e-13 16 33 GOLT1A 127845 broad.mit.edu 37 1 204170901 204170901 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:204170901C>T uc001has.1 - 3 342 c.156G>A c.(154-156)CTG>CTA p.L52L GOLT1A_uc001hat.1_Silent_p.L52L NM_198447 NP_940849 Q6ZVE7 GOT1A_HUMAN golgi transport 1 homolog A 52 Helical; Name=2; (Potential). protein transport|vesicle-mediated transport Golgi membrane|integral to membrane 0 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) AGGTCTTCCTCAGGCCAATGA 0.592 NaN 0 0 0 0.00361 0 66 24 MFSD4 148808 broad.mit.edu 37 1 205561360 205561360 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:205561360C>T uc001hcv.3 + 7 1328 c.1242C>T c.(1240-1242)CTC>CTT p.L414L MFSD4_uc010prk.1_Silent_p.L327L|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Silent_p.L359L|MFSD4_uc009xbn.2_RNA NM_181644 NP_857595 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 414 Helical; (Potential). transmembrane transport integral to membrane skin(2)|central_nervous_system(1) 3 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCCTGTTTCTCAGCAGCACCT 0.622 NaN OREG0014160 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 35 13 SRGAP2 23380 broad.mit.edu 37 1 206566186 206566186 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:206566186C>T uc001hdy.2 + 3 699 c.366C>T c.(364-366)TCC>TCT p.S122S SRGAP2_uc009xbt.2_Silent_p.S46S|SRGAP2_uc010prt.1_Silent_p.S46S|SRGAP2_uc001hdx.2_Silent_p.S122S|SRGAP2_uc010pru.1_Silent_p.S46S|SRGAP2_uc010prv.1_Silent_p.S46S NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 209 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) CCCCTGACTCCACGGCCAACG 0.532 NaN 0 0 0 0.000602 0 3 39 TRAF3IP3 80342 broad.mit.edu 37 1 209935923 209935923 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:209935923G>T uc001hho.2 + 4 699 c.409G>T c.(409-411)GAT>TAT p.D137Y TRAF3IP3_uc001hhl.2_Missense_Mutation_p.D117Y|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.D137Y|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.D117Y|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.D137Y NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 137 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) CATCTGCAGGGATCTGTCTGA 0.587 NaN 1 0 7.38237e-10 0.00632 7.86665e-10 20 5 ESRRG 2104 broad.mit.edu 37 1 216737663 216737663 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:216737663C>T uc001hkw.1 - 5 926 c.760G>A c.(760-762)GAC>AAC p.D254N ESRRG_uc001hky.1_Missense_Mutation_p.D231N|ESRRG_uc009xdp.1_Missense_Mutation_p.D231N|ESRRG_uc001hkz.1_Missense_Mutation_p.D192N|ESRRG_uc010puc.1_Missense_Mutation_p.D231N|ESRRG_uc001hla.1_Missense_Mutation_p.D231N|ESRRG_uc001hlb.1_Missense_Mutation_p.D231N|ESRRG_uc010pud.1_Missense_Mutation_p.D62N|ESRRG_uc001hlc.1_Missense_Mutation_p.D231N|ESRRG_uc001hld.1_Missense_Mutation_p.D231N|ESRRG_uc001hkx.1_Missense_Mutation_p.D266N|ESRRG_uc009xdo.1_Missense_Mutation_p.D231N|ESRRG_uc001hle.1_Missense_Mutation_p.D231N NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 254 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) ACAGTAGGGTCAGGCATGGCA 0.493 NaN 0 0 0 0.011902 0 37 4 LYST 1130 broad.mit.edu 37 1 235964228 235964228 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:235964228C>T uc001hxj.2 - 9 4057 c.3882G>A c.(3880-3882)GAG>GAA p.E1294E LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.E1294E NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1294 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCAAAAAACTCTCAAATACAT 0.313 NaN Chediak-Higashi_syndrome 0 0 0 0.001984 0 7 23 MTR 4548 broad.mit.edu 37 1 237016251 237016251 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:237016251G>A uc001hyi.3 + 18 2239 c.1816G>A c.(1816-1818)GGC>AGC p.G606S MTR_uc010pxw.1_Missense_Mutation_p.G199S|MTR_uc010pxx.1_Missense_Mutation_p.G606S|MTR_uc010pxy.1_Intron NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 606 Pterin-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CCCTTAGTCTGGCATGGACAT 0.299 NaN 0 0 0 0.004656 0 18 67 CHRM3 1131 broad.mit.edu 37 1 240072203 240072203 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:240072203C>G uc001hyp.2 + 5 2231 c.1452C>G c.(1450-1452)GTC>GTG p.V484V NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 484 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGTCCCTGGTCAAGGAGAAGA 0.517 NaN 0 0 0 0.002299 0 19 77 CHRM3 1131 broad.mit.edu 37 1 240072271 240072271 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:240072271A>T uc001hyp.2 + 5 2299 c.1520A>T c.(1519-1521)TAC>TTC p.Y507F NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 507 Helical; Name=6; (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGGACCCCATACAACATCATG 0.502 NaN 0 0 0 0.011902 0 33 106 OR6F1 343169 broad.mit.edu 37 1 247875858 247875858 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:247875858G>T uc001idj.1 - 1 200 c.200C>A c.(199-201)TCC>TAC p.S67Y NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CTCCAGGAAGGAGAGGTTGCT 0.478 NaN 1 0 1.76689e-08 0.006214 1.85901e-08 8 65 OR2T10 127069 broad.mit.edu 37 1 248756394 248756394 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:248756394G>C uc010pzn.1 - 1 676 c.676C>G c.(676-678)CAT>GAT p.H226D NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCATCTTATGGATGGTGAGG 0.443 NaN 0 0 0 0.00632 0 22 78 FBXO18 84893 broad.mit.edu 37 10 5951204 5951204 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:5951204G>A uc001iis.2 + 5 1062 c.967G>A c.(967-969)GAG>AAG p.E323K FBXO18_uc001iir.2_Missense_Mutation_p.E249K|FBXO18_uc009xig.2_Missense_Mutation_p.E249K|FBXO18_uc001iit.2_Missense_Mutation_p.E374K NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 323 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 CCTCCTCCCCGAGGCTGAGGC 0.617 NaN 0 0 0 0.00361 0 50 22 BEND7 222389 broad.mit.edu 37 10 13481367 13481367 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:13481367G>A uc001imm.2 - 9 1509 c.1212C>T c.(1210-1212)CTC>CTT p.L404L BEND7_uc001iml.2_RNA NM_152751 NP_689964 Q8N7W2 BEND7_HUMAN BEN domain containing 7 isoform 1 455 protein binding ovary(1)|breast(1) 2 TCAGGAGCACGAGATGCTGCT 0.493 NaN 0 0 0 0.00245 0 13 41 FAM188A 80013 broad.mit.edu 37 10 15875631 15875631 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:15875631A>G uc001iod.1 - 8 949 c.728T>C c.(727-729)ATG>ACG p.M243T FAM188A_uc001ioe.1_Missense_Mutation_p.M70T|FAM188A_uc001iof.1_Missense_Mutation_p.M243T NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 243 apoptosis nucleus calcium ion binding ovary(1) 1 ATACTTACTCATTCCTGAGCA 0.249 NaN 0 0 0 0.00361 0 49 25 ABI1 10006 broad.mit.edu 37 10 27052865 27052865 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:27052865G>T uc001isx.2 - 8 1012 c.845C>A c.(844-846)TCT>TAT p.S282Y ABI1_uc001ite.2_Intron|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Intron|ABI1_uc001ita.2_Intron|ABI1_uc001isz.2_Intron|ABI1_uc001itb.2_Missense_Mutation_p.S299Y|ABI1_uc001itc.2_Intron|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Intron|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Intron NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN abl-interactor 1 isoform a 282 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1) 1 TGGAGCTCCAGAAGGAGGAGG 0.413 NaN 1 0 2.98393e-07 0.00278 3.11978e-07 21 41 ARHGAP12 94134 broad.mit.edu 37 10 32197606 32197606 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:32197606T>C uc001ivz.1 - 3 448 c.178A>G c.(178-180)AAA>GAA p.K60E ARHGAP12_uc001ivy.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xls.2_Missense_Mutation_p.K58E|ARHGAP12_uc001iwb.1_Missense_Mutation_p.K58E|ARHGAP12_uc001iwc.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xlq.1_Missense_Mutation_p.K58E|ARHGAP12_uc001iwd.1_Missense_Mutation_p.K58E|ARHGAP12_uc009xlr.1_Missense_Mutation_p.K58E NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 60 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) TAAAACGCTTTGGAGTTTTCA 0.468 NaN 0 0 0 0.008291 0 10 6 ITGB1 3688 broad.mit.edu 37 10 33211203 33211203 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:33211203C>T uc001iws.3 - 9 1246 c.1110G>A c.(1108-1110)TTG>TTA p.L370L ITGB1_uc001iwp.3_Silent_p.L370L|ITGB1_uc001iwq.3_Silent_p.L370L|ITGB1_uc001iwr.3_Silent_p.L370L|ITGB1_uc001iwt.3_Silent_p.L370L|ITGB1_uc001iwu.1_Silent_p.L370L NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 370 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) CATCAATGATCAACTGAATTA 0.323 NaN 0 0 0 0.00623 0 28 84 SLC18A3 6572 broad.mit.edu 37 10 50820268 50820268 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:50820268C>T uc001jhw.2 + 1 1922 c.1482C>T c.(1480-1482)TAC>TAT p.Y494Y CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 494 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 AAGGTCTGTACGATGCGGTGC 0.647 NaN 0 0 0 0.010504 0 17 25 PCDH15 65217 broad.mit.edu 37 10 55782693 55782693 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:55782693C>T uc001jju.1 - 19 2880 c.2485G>A c.(2485-2487)GAA>AAA p.E829K PCDH15_uc010qhq.1_Missense_Mutation_p.E834K|PCDH15_uc010qhr.1_Missense_Mutation_p.E829K|PCDH15_uc010qhs.1_Missense_Mutation_p.E841K|PCDH15_uc010qht.1_Missense_Mutation_p.E836K|PCDH15_uc010qhu.1_Missense_Mutation_p.E829K|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.E829K|PCDH15_uc010qhw.1_Missense_Mutation_p.E792K|PCDH15_uc010qhx.1_Missense_Mutation_p.E758K|PCDH15_uc010qhy.1_Missense_Mutation_p.E834K|PCDH15_uc010qhz.1_Missense_Mutation_p.E829K|PCDH15_uc010qia.1_Missense_Mutation_p.E807K|PCDH15_uc010qib.1_Missense_Mutation_p.E807K|PCDH15_uc001jjw.2_Missense_Mutation_p.E829K NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 829 Extracellular (Potential).|Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AAATTCTCTTCAACAAGGACA 0.393 NaN HNSCC(58;0.16) 0 0 0 0.00361 0 99 5 DNA2 1763 broad.mit.edu 37 10 70206090 70206090 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:70206090C>T uc001jof.2 - 7 1278 c.1278G>A c.(1276-1278)CAG>CAA p.Q426Q DNA2_uc001jog.1_Silent_p.Q340Q|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 340 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 CAGGGTACATCTGACCAGTCT 0.453 NaN 0 0 0 0.001168 0 5 4 TSPAN14 81619 broad.mit.edu 37 10 82269119 82269119 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:82269119G>A uc001kcj.3 + 5 449 c.342G>A c.(340-342)CTG>CTA p.L114L TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.L97L NM_030927 NP_112189 Q8NG11 TSN14_HUMAN tetraspanin 14 isoform 1 114 integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(32;0.229) TGGCCTTCCTGTTCCAGGACT 0.592 NaN 0 0 0 0.00278 0 20 16 PDCD4 27250 broad.mit.edu 37 10 112650398 112650398 + Silent SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:112650398G>C uc001kzh.2 + 8 1203 c.960G>C c.(958-960)GGG>GGC p.G320G PDCD4_uc001kzg.2_Silent_p.G309G|PDCD4_uc010qre.1_Silent_p.G306G NM_014456 NP_055271 Q53EL6 PDCD4_HUMAN programmed cell death 4 isoform 1 320 apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding ovary(1)|breast(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) CTGGAGGTGGGCAGCAATCTG 0.398 NaN 0 0 0 0.00278 0 15 25 PNLIP 5406 broad.mit.edu 37 10 118327270 118327270 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:118327270C>T uc001lcm.2 + 13 1401 c.1358C>T c.(1357-1359)ACC>ATC p.T453I NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 453 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AGTCCAGAAACCGTCAGGGAG 0.433 NaN 0 0 0 0.004878 0 27 3 PNLIPRP1 5407 broad.mit.edu 37 10 118352009 118352009 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:118352009T>A uc001lco.1 + 4 304 c.286T>A c.(286-288)TTC>ATC p.F96I PNLIPRP1_uc001lcp.2_Missense_Mutation_p.F96I|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.F96I|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 96 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) CATCCATGGCTTCATAGACAA 0.488 NaN 0 0 0 0.00361 0 49 3 EIF3A 8661 broad.mit.edu 37 10 120802195 120802195 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:120802195C>G uc001ldu.2 - 19 2983 c.2837G>C c.(2836-2838)AGA>ACA p.R946T EIF3A_uc010qsu.1_Missense_Mutation_p.R912T|EIF3A_uc009xzg.1_5'UTR NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 946 3.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) AGAGGGCTCTCTATCTTCATC 0.567 NaN 0 0 0 0.00361 0 84 2 DMBT1 1755 broad.mit.edu 37 10 124357509 124357509 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr10:124357509C>G uc001lgk.1 + 25 3043 c.2937C>G c.(2935-2937)ACC>ACG p.T979T DMBT1_uc001lgl.1_Silent_p.T969T|DMBT1_uc001lgm.1_Silent_p.T480T|DMBT1_uc009xzz.1_Silent_p.T979T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 979 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CGACCATCACCTTGCCTGCAT 0.453 NaN 0 0 0 0.00361 0 122 5 OR51G2 81282 broad.mit.edu 37 11 4936589 4936589 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:4936589C>T uc001lzr.1 - 1 305 c.305G>A c.(304-306)TGC>TAC p.C102Y NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 102 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGAGCAAAGCAGGCATCATG 0.522 NaN 0 0 0 0.009096 0 4 11 OR52E6 390078 broad.mit.edu 37 11 5863035 5863035 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:5863035G>C uc010qzq.1 - 1 93 c.93C>G c.(91-93)TTC>TTG p.F31L TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAAAAAGGGAATCCAATCC 0.458 NaN 0 0 0 0.012319 0 13 35 IPO7 10527 broad.mit.edu 37 11 9450663 9450663 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:9450663G>A uc001mho.2 + 14 1653 c.1511G>A c.(1510-1512)TGT>TAT p.C504Y NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 504 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) ACAAGAAGATGTCTGATTGAT 0.378 NaN 0 0 0 0.005443 0 18 4 DKK3 27122 broad.mit.edu 37 11 11987391 11987391 + Nonsense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:11987391G>T uc001mju.2 - 6 852 c.795C>A c.(793-795)TGC>TGA p.C265* DKK3_uc010rcf.1_Nonsense_Mutation_p.C237*|DKK3_uc001mjv.2_Nonsense_Mutation_p.C265*|DKK3_uc001mjw.2_Nonsense_Mutation_p.C265*|DKK3_uc010rcg.1_Nonsense_Mutation_p.C265* NM_001018057 NP_001018067 Q9UBP4 DKK3_HUMAN dickkopf homolog 3 precursor 265 DKK-type Cys-2. adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(1) 1 Epithelial(150;0.000502) TGGCACAAGGGCATCGGTCCA 0.672 NaN 1 0 1.75199e-13 0.007291 1.91912e-13 21 1 DKK3 27122 broad.mit.edu 37 11 12020244 12020244 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:12020244T>A uc001mju.2 - 3 491 c.434A>T c.(433-435)CAC>CTC p.H145L DKK3_uc010rcf.1_Intron|DKK3_uc001mjv.2_Missense_Mutation_p.H145L|DKK3_uc001mjw.2_Missense_Mutation_p.H145L|DKK3_uc010rcg.1_Missense_Mutation_p.H145L NM_001018057 NP_001018067 Q9UBP4 DKK3_HUMAN dickkopf homolog 3 precursor 145 adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(1) 1 Epithelial(150;0.000502) ACAACTTACGTGGCTCCTTCT 0.473 NaN 0 0 0 0.003755 0 32 1 MICAL2 9645 broad.mit.edu 37 11 12247859 12247859 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:12247859G>A uc001mjz.2 + 14 2118 c.1830G>A c.(1828-1830)ATG>ATA p.M610I MICAL2_uc010rch.1_Missense_Mutation_p.M610I|MICAL2_uc001mka.2_Missense_Mutation_p.M610I|MICAL2_uc010rci.1_Missense_Mutation_p.M610I|MICAL2_uc001mkb.2_Missense_Mutation_p.M610I|MICAL2_uc001mkc.2_Missense_Mutation_p.M610I|MICAL2_uc001mkd.2_Missense_Mutation_p.M439I|MICAL2_uc010rcj.1_Missense_Mutation_p.M12I NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 610 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) AGCTCAGCATGGTCATGTACC 0.582 NaN 0 0 0 0.00361 0 47 7 PDE3B 5140 broad.mit.edu 37 11 14856593 14856593 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:14856593C>T uc001mln.2 + 11 2625 c.2272C>T c.(2272-2274)CCT>TCT p.P758S PDE3B_uc010rcr.1_Missense_Mutation_p.P707S NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 758 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 ACGGCCAGTTCCTGGCTTACA 0.383 NaN 0 0 0 0.00361 0 41 40 LDHC 3948 broad.mit.edu 37 11 18434294 18434294 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:18434294G>A uc001mon.3 + 2 142 c.30G>A c.(28-30)GAG>GAA p.E10E LDHC_uc001mom.3_Silent_p.E10E|LDHC_uc009yhp.2_Silent_p.E10E|LDHC_uc001moo.3_5'UTR|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_5'UTR NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 10 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) AGCTAATTGAGAAGCTAATTG 0.393 NaN 0 0 0 0.00245 0 12 52 NELL1 4745 broad.mit.edu 37 11 20940866 20940866 + Nonsense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:20940866A>T uc001mqe.2 + 7 898 c.745A>T c.(745-747)AAG>TAG p.K249* NELL1_uc001mqf.2_Nonsense_Mutation_p.K249*|NELL1_uc009yid.2_Nonsense_Mutation_p.K277*|NELL1_uc010rdo.1_Nonsense_Mutation_p.K192*|NELL1_uc010rdp.1_Nonsense_Mutation_p.K9* NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 249 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GCTTTTGGCCAAGATGACTGC 0.318 NaN 0 0 0 0.003271 0 26 40 CCDC73 493860 broad.mit.edu 37 11 32781668 32781668 + Nonsense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:32781668A>T uc001mtv.2 - 2 166 c.122T>A c.(121-123)TTG>TAG p.L41* CCDC73_uc001mtw.1_Nonsense_Mutation_p.L41*|CCDC73_uc009yjt.2_Nonsense_Mutation_p.L41* NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 41 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TCTCATACGCAATTCTTCTAA 0.289 NaN 0 0 0 0.001168 0 5 111 HIPK3 10114 broad.mit.edu 37 11 33370305 33370305 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:33370305C>T uc001mul.1 + 13 2877 c.2607C>T c.(2605-2607)GTC>GTT p.V869V HIPK3_uc001mum.1_Silent_p.V848V|HIPK3_uc009yjv.1_Silent_p.V848V NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 869 SUMO interaction motifs (SIM); required for nuclear localization and kinase activity (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).|Interaction with AR (By similarity). anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 CAGTGAGTGTCATCACTATCA 0.473 NaN 0 0 0 0.00361 0 56 84 ABTB2 25841 broad.mit.edu 37 11 34226117 34226117 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:34226117G>A uc001mvl.1 - 2 676 c.446C>T c.(445-447)ACC>ATC p.T149I NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 149 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GCCCACGCAGGTGGCCAGGAG 0.642 NaN 0 0 0 0.00361 0 36 33 LRRC4C 57689 broad.mit.edu 37 11 40136115 40136115 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:40136115C>A uc001mxa.1 - 2 3692 c.1728G>T c.(1726-1728)ACG>ACT p.T576T LRRC4C_uc001mxc.1_Silent_p.T572T|LRRC4C_uc001mxd.1_Silent_p.T572T|LRRC4C_uc001mxb.1_Silent_p.T572T NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 576 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) GTGTGTCTCCCGTAATCTCAT 0.458 NaN 1 0 1.42923e-14 0.00361 1.58117e-14 44 59 EXT2 2132 broad.mit.edu 37 11 44255775 44255775 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:44255775G>T uc001mxz.2 + 12 2251 c.1917G>T c.(1915-1917)ACG>ACT p.T639T EXT2_uc010rfo.1_Silent_p.T667T|EXT2_uc001mxy.2_Silent_p.T652T|EXT2_uc009ykt.2_Silent_p.T649T|EXT2_uc001mya.2_Silent_p.T672T NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 639 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 CCAACGTCACGGGAAAAGCAG 0.284 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 1 0 8.24728e-16 0.004656 9.1851e-16 23 16 CKAP5 9793 broad.mit.edu 37 11 46802036 46802036 + Splice_Site SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:46802036C>T uc001ndi.1 - 19 2360 c.2250_splice c.e19-1 p.G750_splice CKAP5_uc009ylg.1_Splice_Site_p.G636_splice|CKAP5_uc001ndj.1_Splice_Site_p.G750_splice NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 GACATTCAACCTAGAAGAAAC 0.338 NaN 0 0 0 0.00245 0 11 10 OR4C3 256144 broad.mit.edu 37 11 48346740 48346740 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:48346740C>T uc010rhv.1 + 1 248 c.248C>T c.(247-249)CCT>CTT p.P83L NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTGGCTTCCCCTGTGTATTTT 0.458 NaN 0 0 0 0.001168 0 3 35 OR5AS1 219447 broad.mit.edu 37 11 55798291 55798291 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:55798291A>G uc010riw.1 + 1 397 c.397A>G c.(397-399)ACT>GCT p.T133A NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 133 Cytoplasmic (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) ACTGCTCTATACTACACTGAT 0.463 NaN 0 0 0 0.009535 0 33 25 OR8H3 390152 broad.mit.edu 37 11 55890516 55890516 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:55890516C>T uc001nii.1 + 1 668 c.668C>T c.(667-669)TCT>TTT p.S223F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TCCATTCTCTCTACCATCCTG 0.418 NaN 0 0 0 0.00361 0 53 57 OR5R1 219479 broad.mit.edu 37 11 56185025 56185025 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:56185025G>A uc010rji.1 - 1 684 c.684C>T c.(682-684)ATC>ATT p.I228I NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GAGTAGAGCGGATCCTTAGGA 0.443 NaN 0 0 0 0.005524 0 29 41 OR5M10 390167 broad.mit.edu 37 11 56345172 56345172 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:56345172A>G uc001niz.1 - 1 26 c.26T>C c.(25-27)GTG>GCG p.V9A NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAATTCTGTCACTATGGTGTG 0.433 NaN 0 0 0 0.010771 0 38 59 VWCE 220001 broad.mit.edu 37 11 61026169 61026170 + Missense_Mutation DNP CG CG GA rs143205377 byFrequency TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:61026169_61026170CG>GA uc001nra.2 - 20 3124_3125 c.2845_2846CG>TC c.(2845-2847)CGG>TCG p.R949S VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 949 extracellular region calcium ion binding ovary(1) 1 CTCTTCCCCCCGAGAAGCCCCC 0.663 NaN 0 0 0 0.004672 0 15 27 AHNAK 79026 broad.mit.edu 37 11 62292550 62292550 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:62292550C>A uc001ntl.2 - 5 9639 c.9339G>T c.(9337-9339)CTG>CTT p.L3113L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3113 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCACTTTTGGCAGAGACACAT 0.473 NaN 1 0 2.68928e-46 0.00361 3.18128e-46 96 127 CDCA5 113130 broad.mit.edu 37 11 64847132 64847132 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:64847132G>A uc001ocp.2 - 5 536 c.371C>T c.(370-372)TCC>TTC p.S124F NM_080668 NP_542399 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 124 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding 0 CTTGGAGCTGGACTCGGCCTC 0.607 NaN 0 0 0 0.001168 0 5 2 PELI3 246330 broad.mit.edu 37 11 66236342 66236342 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:66236342G>C uc001oic.3 + 3 355 c.191G>C c.(190-192)AGA>ACA p.R64T PELI3_uc001oib.2_Missense_Mutation_p.R64T|PELI3_uc001oid.3_Intron|PELI3_uc001oie.3_Intron NM_145065 NP_659502 Q8N2H9 PELI3_HUMAN pellino 3 alpha isoform 1 64 cytosol protein binding ovary(1) 1 gaggctcagagaggggaagtg 0 NaN 0 0 0 0.00308 0 8 8 RBM14 10432 broad.mit.edu 37 11 66392723 66392723 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:66392723G>T uc001oit.2 + 2 1515 c.1376G>T c.(1375-1377)GGC>GTC p.G459V RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 459 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 CCAATGGCTGGCTCCTATGGG 0.622 NaN 1 0 4.15467e-78 0.00361 4.9588e-78 84 107 CTTN 2017 broad.mit.edu 37 11 70277332 70277332 + Silent SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:70277332G>C uc001opv.3 + 15 1418 c.1212G>C c.(1210-1212)GTG>GTC p.V404V CTTN_uc001opu.2_Silent_p.V367V|CTTN_uc001opw.3_Silent_p.V367V|CTTN_uc010rqm.1_Silent_p.V88V|CTTN_uc001opx.2_Silent_p.V88V NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 404 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) CGCCCCCTGTGTCGCCCGCAC 0.562 NaN 0 0 0 0.00361 0 71 82 NADSYN1 55191 broad.mit.edu 37 11 71169536 71169536 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:71169536T>C uc001oqn.2 + 3 335 c.209T>C c.(208-210)CTA>CCA p.L70P NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 70 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTTCAAGTCCTAGCGGCCCTT 0.542 NaN 0 0 0 0.012213 0 27 67 SLCO2B1 11309 broad.mit.edu 37 11 74911311 74911311 + Missense_Mutation SNP G G A rs149242910 byFrequency TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:74911311G>A uc001owb.2 + 11 2029 c.1642G>A c.(1642-1644)GTG>ATG p.V548M SLCO2B1_uc010rrq.1_Missense_Mutation_p.V293M|SLCO2B1_uc010rrr.1_Missense_Mutation_p.V404M|SLCO2B1_uc010rrs.1_Missense_Mutation_p.V432M|SLCO2B1_uc001owc.2_Missense_Mutation_p.V321M|SLCO2B1_uc001owd.2_Missense_Mutation_p.V526M NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 548 Extracellular (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) GGGCAACCCCGTGCTGGCAGG 0.632 NaN 0 0 0 0.00361 0 82 110 PRKRIR 5612 broad.mit.edu 37 11 76062849 76062849 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:76062849C>G uc001oxh.1 - 5 1345 c.1345G>C c.(1345-1347)GAT>CAT p.D449H PRKRIR_uc010rrz.1_Missense_Mutation_p.D274H NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 449 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 TTTATACCATCTAAACATAAA 0.383 NaN 0 0 0 0.010818 0 24 24 CAPN5 726 broad.mit.edu 37 11 76826502 76826502 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:76826502A>G uc001oxx.2 + 6 946 c.761A>G c.(760-762)TAC>TGC p.Y254C CAPN5_uc009yup.2_Missense_Mutation_p.Y294C|CAPN5_uc009yuq.2_Missense_Mutation_p.Y290C|CAPN5_uc001oxy.2_Missense_Mutation_p.Y294C NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 254 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 GGCCACGCATACGCCGTCACT 0.642 NaN 0 0 0 0.008291 0 8 17 GRM5 2915 broad.mit.edu 37 11 88780576 88780576 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:88780576G>T uc001pcq.2 - 1 665 c.465C>A c.(463-465)GCC>GCA p.A155A GRM5_uc009yvm.2_Silent_p.A155A|GRM5_uc009yvn.1_Silent_p.A155A NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 155 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGACCTGAATGGCTACAGAAC 0.493 NaN 1 0 7.11191e-15 0.002836 7.88108e-15 27 21 FAT3 120114 broad.mit.edu 37 11 92532922 92532922 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:92532922A>G uc001pdj.3 + 9 6760 c.6743A>G c.(6742-6744)TAT>TGT p.Y2248C NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2248 Cadherin 20.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCTTTGGATTATGAAGTTACA 0.423 NaN TCGA Ovarian(4;0.039) 0 0 0 0.004482 0 9 4 AMOTL1 154810 broad.mit.edu 37 11 94597966 94597966 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:94597966C>T uc001pfb.2 + 10 2372 c.2202C>T c.(2200-2202)ATC>ATT p.I734I AMOTL1_uc001pfc.2_Silent_p.I684I NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 734 Potential. cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) AGGCCCACATCTGGCAAGAGG 0.557 NaN 0 0 0 0.006999 0 30 134 ATM 472 broad.mit.edu 37 11 108175524 108175524 + Silent SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:108175524T>C uc001pkb.1 + 37 6004 c.5619T>C c.(5617-5619)TGT>TGC p.C1873C ATM_uc009yxr.1_Silent_p.C1873C|ATM_uc001pke.1_Silent_p.C525C|ATM_uc001pkg.1_Silent_p.C230C|ATM_uc009yxt.1_Missense_Mutation_p.S17P NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1873 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCACCAGCTGTCTTCGACACT 0.368 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.010729 0 11 23 C11orf57 55216 broad.mit.edu 37 11 111951225 111951225 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:111951225T>C uc001pmr.3 + 4 944 c.263T>C c.(262-264)CTT>CCT p.L88P C11orf57_uc001pmu.2_Missense_Mutation_p.L88P|C11orf57_uc001pmw.3_Missense_Mutation_p.L88P|C11orf57_uc001pmt.3_Missense_Mutation_p.L88P|C11orf57_uc001pmv.3_Missense_Mutation_p.L88P|C11orf57_uc001pms.3_Missense_Mutation_p.L59P NM_001082970 NP_001076439 Q6ZUT1 CK057_HUMAN hypothetical protein LOC55216 isoform b 88 breast(2)|ovary(1) 3 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) GATGATTTTCTTAAGGCTAAA 0.373 NaN 0 0 0 0.008291 0 9 31 BUD13 84811 broad.mit.edu 37 11 116643573 116643573 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:116643573T>A uc001ppn.2 - 1 142 c.108A>T c.(106-108)AAA>AAT p.K36N BUD13_uc001ppo.2_Missense_Mutation_p.K36N|BUD13_uc009yzc.2_Missense_Mutation_p.K36N NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 36 large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) TCGGCCGCTTTTTGCGACGCT 0.692 NaN 0 0 0 0.004482 0 6 3 OR8B8 26493 broad.mit.edu 37 11 124310918 124310918 + Nonsense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:124310918C>A uc010sal.1 - 1 64 c.64G>T c.(64-66)GGA>TGA p.G22* NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATCTGGACTCCCGGTTGGTCA 0.502 NaN 1 0 6.55177e-30 0.007291 7.64182e-30 20 42 OR8A1 390275 broad.mit.edu 37 11 124440003 124440003 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:124440003C>T uc010san.1 + 1 39 c.39C>T c.(37-39)CCC>CCT p.P13P NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GCAGGCCTCCCACCCAGAGGA 0.522 NaN 0 0 0 0.00499 0 16 11 NFRKB 4798 broad.mit.edu 37 11 129758510 129758510 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:129758510T>A uc001qfi.2 - 4 517 c.316A>T c.(316-318)ATT>TTT p.I106F NFRKB_uc001qfg.2_Missense_Mutation_p.I119F|NFRKB_uc001qfh.2_Missense_Mutation_p.I129F|NFRKB_uc010sbw.1_Missense_Mutation_p.I106F NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 106 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTCTGGGCAATGTGCAGAGGG 0.493 NaN 0 0 0 0.00623 0 28 46 SNX19 399979 broad.mit.edu 37 11 130785171 130785171 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:130785171C>T uc001qgk.3 - 1 1212 c.664G>A c.(664-666)GGG>AGG p.G222R SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.G222R|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 222 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GGCACCAGCCCTTGAAGCAAC 0.567 NaN 0 0 0 0.007413 0 14 12 B4GALNT3 283358 broad.mit.edu 37 12 662804 662804 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:662804A>T uc001qii.1 + 14 1715 c.1715A>T c.(1714-1716)CAG>CTG p.Q572L B4GALNT3_uc001qij.1_Missense_Mutation_p.Q475L|B4GALNT3_uc001qik.1_Missense_Mutation_p.Q121L NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 572 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) ATCGCAGAGCAGAGACGGGGT 0.637 NaN 0 0 0 0.012213 0 24 23 C12orf4 57102 broad.mit.edu 37 12 4599748 4599748 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:4599748C>T uc001qms.2 - 13 1594 c.1506G>A c.(1504-1506)ATG>ATA p.M502I C12orf4_uc001qmt.2_Missense_Mutation_p.M502I NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 502 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) CCATTTCCATCATGAAACCTA 0.388 NaN 0 0 0 0.007835 0 31 37 LAG3 3902 broad.mit.edu 37 12 6882428 6882428 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:6882428C>A uc001qqt.3 + 2 478 c.129C>A c.(127-129)CCC>CCA p.P43P LAG3_uc001qqs.2_Silent_p.P43P|LAG3_uc001qqu.2_Translation_Start_Site NM_002286 NP_002277 P18627 LAG3_HUMAN lymphocyte-activation protein 3 precursor 43 Ig-like V-type.|Extracellular (Potential). integral to membrane antigen binding|MHC class II protein binding 0 CCCAGCTCCCCTGCAGCCCCA 0.637 NaN 1 0 6.2361e-21 0.007835 7.12392e-21 38 23 APOBEC1 339 broad.mit.edu 37 12 7805283 7805283 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:7805283T>C uc001qtb.2 - 3 227 c.193A>G c.(193-195)AAT>GAT p.N65D APOBEC1_uc001qtc.2_Missense_Mutation_p.N20D|APOBEC1_uc010sgf.1_Missense_Mutation_p.N65D NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 65 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 tttataaaattaaCTTCCACG 0.473 NaN 0 0 0 0.004672 0 2 10 SLC2A3 6515 broad.mit.edu 37 12 8083210 8083210 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:8083210G>T uc001qtr.2 - 5 801 c.539C>A c.(538-540)TCT>TAT p.S180Y SLC2A3_uc001qts.2_Missense_Mutation_p.S180Y NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 180 Extracellular (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) TAGCTCTTCAGACCCAAGGAT 0.438 NaN 1 0 6.53348e-20 0.003755 7.43811e-20 29 25 MFAP5 8076 broad.mit.edu 37 12 8800748 8800748 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:8800748G>A uc001qut.1 - 10 674 c.461C>T c.(460-462)TCC>TTC p.S154F MFAP5_uc001qus.2_Missense_Mutation_p.S144F|MFAP5_uc009zge.1_Missense_Mutation_p.S129F NM_003480 NP_003471 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 precursor 154 microfibril extracellular matrix structural constituent breast(1) 1 Lung SC(5;0.184) GAAGTAATTGGAGCGACGGAG 0.453 NaN 0 0 0 0.005524 0 26 29 PRB3 5544 broad.mit.edu 37 12 11420862 11420862 + Silent SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:11420862T>G uc001qzs.2 - 3 359 c.321A>C c.(319-321)GGA>GGC p.G107G PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 107 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) GGGACTGGTTTCCTCCTTGTG 0.632 NaN 0 0 0 0.010729 0 4 162 STRAP 11171 broad.mit.edu 37 12 16036570 16036570 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:16036570G>T uc001rdc.3 + 2 562 c.208G>T c.(208-210)GAT>TAT p.D70Y STRAP_uc010shw.1_Missense_Mutation_p.D83Y|STRAP_uc001rdd.3_Intron NM_007178 NP_009109 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated 70 WD 2. mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding skin(1) 1 Hepatocellular(102;0.121) ACTGAATAAGGATGCCACCAA 0.458 NaN 1 0 5.91797e-21 0.012213 6.77211e-21 25 17 SLCO1C1 53919 broad.mit.edu 37 12 20886039 20886039 + Splice_Site SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:20886039G>C uc001rej.3 + 11 1737 c.1382_splice c.e11+1 p.G461_splice SLCO1C1_uc010sii.1_Splice_Site_p.G461_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G412_splice|SLCO1C1_uc009zip.2_Splice_Site_p.G295_splice|SLCO1C1_uc001rei.2_Splice_Site_p.G461_splice|SLCO1C1_uc010sik.1_Splice_Site_p.G343_splice NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) CCTACCAAGGGTATGTTCCCT 0.363 NaN 0 0 0 0.00361 0 72 63 NELL2 4753 broad.mit.edu 37 12 44926364 44926364 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:44926364C>T uc001rog.2 - 16 2399 c.1804G>A c.(1804-1806)GAT>AAT p.D602N NELL2_uc001rof.3_Missense_Mutation_p.D601N|NELL2_uc001roh.2_Missense_Mutation_p.D602N|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Missense_Mutation_p.D652N|NELL2_uc010sla.1_Missense_Mutation_p.D625N|NELL2_uc001roi.1_Missense_Mutation_p.D602N|NELL2_uc010slb.1_3'UTR NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 602 EGF-like 6; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.D602N(1) skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TTGTACTGACCTTCACACGAT 0.403 NaN 0 0 0 0.00361 0 75 67 HDAC7 51564 broad.mit.edu 37 12 48191920 48191920 + Silent SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:48191920G>C uc009zkv.1 - 3 530 c.315C>G c.(313-315)GTC>GTG p.V105V HDAC7_uc010slo.1_Silent_p.V144V|HDAC7_uc001rqj.3_Silent_p.V144V|HDAC7_uc001rqk.3_Silent_p.V127V Q8WUI4 HDAC7_HUMAN Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system. 105 Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) TGTTGGGATGGACTGTTCTTT 0.602 NaN 0 0 0 0.00361 0 188 214 COL2A1 1280 broad.mit.edu 37 12 48375906 48375906 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:48375906C>A uc001rqu.2 - 35 2520 c.2339G>T c.(2338-2340)GGA>GTA p.G780V COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G711V NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 780 Triple-helical region. G -> R (in ACG2). axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) ACCATCCTTTCCAGGGGCTCC 0.617 NaN 1 0 1.33835e-49 0.00361 1.58602e-49 79 126 ZNF641 121274 broad.mit.edu 37 12 48739259 48739259 + Splice_Site SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:48739259T>A uc001rrn.1 - 4 484 c.319_splice c.e4-1 p.G107_splice ZNF641_uc001rro.1_Splice_Site_p.G93_splice|ZNF641_uc010sls.1_Intron NM_152320 NP_689533 Q96N77 ZN641_HUMAN zinc finger protein 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 TACCAGGCCCTGAAACAAAAT 0.448 NaN 0 0 0 0.00361 0 33 34 MLL2 8085 broad.mit.edu 37 12 49420164 49420164 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:49420164C>G uc001rta.3 - 48 15585 c.15585G>C c.(15583-15585)CAG>CAC p.Q5195H NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5195 FYR N-terminal. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGTCAGCCATCTGGTGAGGCA 0.587 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.00278 0 19 26 MLL2 8085 broad.mit.edu 37 12 49420438 49420438 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:49420438C>T uc001rta.3 - 48 15311 c.15311G>A c.(15310-15312)TGC>TAC p.C5104Y NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5104 RING-type 4; degenerate. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CATGCGATTGCAGCTGCTGGT 0.562 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.003271 0 32 32 TUBA1A 7846 broad.mit.edu 37 12 49579351 49579351 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:49579351G>C uc009zlf.2 - 4 1070 c.798C>G c.(796-798)CAC>CAG p.H266Q TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Missense_Mutation_p.H266Q|TUBA1A_uc001rtq.2_Missense_Mutation_p.H113Q|TUBA1A_uc001rtr.2_Missense_Mutation_p.H113Q|TUBA1A_uc009zlg.2_Missense_Mutation_p.H113Q NM_006009 NP_006000 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 266 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity 0 CCAGAGGGAAGTGGATGCGGG 0.512 NaN 0 0 0 0.003954 0 18 95 DNAJC22 79962 broad.mit.edu 37 12 49745187 49745187 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:49745187C>A uc001rua.2 + 3 1329 c.928C>A c.(928-930)CTG>ATG p.L310M DNAJC22_uc001rub.2_Missense_Mutation_p.L310M NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 310 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1) 1 AGACCACAACCTGGACCAGAC 0.542 NaN 1 0 1.13719e-10 0.008361 1.22354e-10 25 33 NCKAP5L 57701 broad.mit.edu 37 12 50189721 50189721 + Nonsense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:50189721G>T uc009zlk.2 - 8 2124 c.1922C>A c.(1921-1923)TCA>TAA p.S641* NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Nonsense_Mutation_p.S234* NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 637 central_nervous_system(1) 1 CTTCTTGGATGAGTTGCCTGG 0.652 NaN 1 0 2.0095e-06 0.001984 2.08462e-06 6 2 ACVRL1 94 broad.mit.edu 37 12 52312784 52312784 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:52312784A>G uc001rzj.2 + 9 1545 c.1262A>G c.(1261-1263)TAT>TGT p.Y421C ACVRL1_uc001rzk.2_Missense_Mutation_p.Y421C|ACVRL1_uc010snm.1_Missense_Mutation_p.Y247C NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 421 Cytoplasmic (Potential).|Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GTGGAGGACTATAGACCACCC 0.532 NaN Hereditary_Hemorrhagic_Telangiectasia 0 0 0 0.00361 0 52 54 KRT85 3891 broad.mit.edu 37 12 52758771 52758771 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:52758771C>T uc001sag.2 - 2 724 c.604G>A c.(604-606)GAG>AAG p.E202K NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 202 Rod.|Coil 1B. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCCAGCACCTCCTGCACATGG 0.622 NaN 0 0 0 0.00361 0 99 157 GDF11 10220 broad.mit.edu 37 12 56143318 56143318 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:56143318C>G uc001shq.2 + 3 913 c.876C>G c.(874-876)AAC>AAG p.N292K GDF11_uc010spv.1_Missense_Mutation_p.N292K NM_005811 NP_005802 O95390 GDF11_HUMAN growth differentiation factor 11 precursor 292 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity kidney(1) 1 TCCTAGAGAACACAAAACGTT 0.547 NaN 0 0 0 0.008361 0 25 74 PAN2 9924 broad.mit.edu 37 12 56713447 56713447 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:56713447C>A uc001skx.2 - 22 3433 c.3060G>T c.(3058-3060)GAG>GAT p.E1020D PAN2_uc001skw.2_Missense_Mutation_p.E168D|PAN2_uc001skz.2_Missense_Mutation_p.E1019D|PAN2_uc001sky.2_Missense_Mutation_p.E1016D NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 1020 Exonuclease. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 AGGGGATACCCTCATTGGGTC 0.498 NaN 1 0 9.31168e-06 0.001855 9.58513e-06 13 50 ATP5B 506 broad.mit.edu 37 12 57033894 57033894 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:57033894G>A uc001slr.2 - 8 1262 c.1157C>T c.(1156-1158)TCG>TTG p.S386L NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 386 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 AATGGCACGCGACAGTACAGT 0.512 NaN 0 0 0 0.004656 0 23 44 BEST3 144453 broad.mit.edu 37 12 70070964 70070964 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:70070964G>A uc001svg.2 - 6 937 c.710C>T c.(709-711)ACC>ATC p.T237I BEST3_uc001svd.1_Missense_Mutation_p.T237I|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Missense_Mutation_p.T75I|BEST3_uc010stm.1_Missense_Mutation_p.T131I|BEST3_uc001svh.2_Missense_Mutation_p.T75I NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 237 chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TCTTACCTGGGTGTAAACCAG 0.478 NaN 0 0 0 0.009096 0 4 16 ALX1 8092 broad.mit.edu 37 12 85695132 85695132 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:85695132C>T uc001tae.3 + 4 864 c.860C>T c.(859-861)ACT>ATT p.T287I NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 287 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) TCTCTTCTTACTGGGGCAACC 0.493 NaN 0 0 0 0.008871 0 18 51 CEP290 80184 broad.mit.edu 37 12 88482860 88482860 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:88482860C>A uc001tar.2 - 31 4322 c.3978G>T c.(3976-3978)AAG>AAT p.K1326N CEP290_uc001taq.2_Missense_Mutation_p.K386N NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1326 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 CTTCCAGGCCCTTTAATTTTA 0.259 NaN 1 0 3.62473e-10 0.012319 3.88114e-10 17 12 ATP2B1 490 broad.mit.edu 37 12 90004246 90004246 + Nonsense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:90004246G>A uc001tbh.2 - 13 2468 c.2287C>T c.(2287-2289)CGA>TGA p.R763* ATP2B1_uc001tbg.2_Nonsense_Mutation_p.R763*|ATP2B1_uc001tbf.2_Nonsense_Mutation_p.R433* NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 763 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 GCAAGTACTCGAAGTTTTGGC 0.323 NaN 0 0 0 0.00361 0 43 123 ANKS1B 56899 broad.mit.edu 37 12 100048914 100048914 + Silent SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:100048914T>A uc001tge.1 - 9 1620 c.1203A>T c.(1201-1203)CCA>CCT p.P401P ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Silent_p.P367P NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 401 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AAAGTCCTGATGGCCCACACG 0.393 NaN 0 0 0 0.008871 0 16 12 GLTP 51228 broad.mit.edu 37 12 110290444 110290444 + Silent SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:110290444G>C uc001tpm.2 - 5 660 c.546C>G c.(544-546)CTC>CTG p.L182L GLTP_uc010sxt.1_RNA NM_016433 NP_057517 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 182 cytoplasm glycolipid binding|glycolipid transporter activity 0 Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122) BRCA - Breast invasive adenocarcinoma(302;0.0025) TGACTAGGAAGAGGCGGATCT 0.537 NaN OREG0022112 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 140 213 C12orf51 283450 broad.mit.edu 37 12 112720937 112720937 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:112720937T>C uc009zwc.2 - 2 341 c.323A>G c.(322-324)AAC>AGC p.N108S NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TTTCAGTGTGTTGGAGATGGT 0.478 NaN 0 0 0 0.00623 0 27 18 RASAL1 8437 broad.mit.edu 37 12 113565880 113565880 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:113565880C>A uc001tum.1 - 4 519 c.226G>T c.(226-228)GAC>TAC p.D76Y RASAL1_uc010syp.1_Missense_Mutation_p.D76Y|RASAL1_uc001tul.2_Missense_Mutation_p.D76Y|RASAL1_uc001tun.1_Missense_Mutation_p.D76Y|RASAL1_uc010syq.1_Missense_Mutation_p.D76Y|RASAL1_uc001tuo.3_Missense_Mutation_p.D76Y|RASAL1_uc010syr.1_Missense_Mutation_p.D76Y NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 76 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 CCGACAGTGTCCTCATCCAGC 0.617 NaN 1 0 1.72433e-176 0.00361 2.07293e-176 309 201 NOS1 4842 broad.mit.edu 37 12 117724011 117724011 + Silent SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:117724011A>G uc001twm.1 - 6 1874 c.1188T>C c.(1186-1188)ACT>ACC p.T396T NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 396 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) GGTAAGTGCTAGTGGTGTCGA 0.562 NaN 0 0 0 0.003163 0 14 31 KSR2 283455 broad.mit.edu 37 12 118293355 118293355 + Missense_Mutation SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:118293355T>G uc001two.2 - 3 318 c.263A>C c.(262-264)GAG>GCG p.E88A NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 117 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAAGAGGTCCTCCAGGCTCAG 0.612 NaN 0 0 0 0.009535 0 26 20 VSIG10 54621 broad.mit.edu 37 12 118511557 118511557 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:118511557C>G uc001tws.2 - 5 1500 c.1166G>C c.(1165-1167)CGA>CCA p.R389P NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 389 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane 0 GCTGTCAGCTCGGCAGATGTA 0.577 NaN 0 0 0 0.00361 0 48 36 CIT 11113 broad.mit.edu 37 12 120195199 120195199 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:120195199C>T uc001txi.1 - 21 2609 c.2556G>A c.(2554-2556)CTG>CTA p.L852L CIT_uc001txh.1_Silent_p.L386L|CIT_uc001txj.1_Silent_p.L894L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 852 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCTCCAGTTCCAGCAGCCGAT 0.557 NaN 0 0 0 0.00361 0 189 308 HIP1R 9026 broad.mit.edu 37 12 123333067 123333067 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:123333067C>T uc001udj.1 + 3 271 c.212C>T c.(211-213)GCC>GTC p.A71V HIP1R_uc001udg.1_Missense_Mutation_p.A59V|HIP1R_uc001udi.1_Missense_Mutation_p.A71V|HIP1R_uc001udh.2_Missense_Mutation_p.A71V NM_003959 NP_003950 O75146 HIP1R_HUMAN huntingtin interacting protein-1-related 71 ENTH. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) TGGTCCTACGCCATTGGGCTG 0.597 NaN 0 0 0 0.012319 0 18 46 SBNO1 55206 broad.mit.edu 37 12 123782653 123782653 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:123782653T>A uc010tap.1 - 30 3911 c.3911A>T c.(3910-3912)TAT>TTT p.Y1304F SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.Y1303F|SBNO1_uc010taq.1_Missense_Mutation_p.Y255F NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1304 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TAATACATAATATGTACGGCA 0.438 NaN 0 0 0 0.003755 0 30 56 DNAH10 196385 broad.mit.edu 37 12 124403343 124403343 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:124403343C>T uc001uft.3 + 64 11024 c.10999C>T c.(10999-11001)CTG>TTG p.L3667L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3667 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGAGATGGCCCTGGTGAACTC 0.577 NaN 0 0 0 0.006214 0 7 16 ZNF664 144348 broad.mit.edu 37 12 124497333 124497333 + Silent SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:124497333G>C uc001ufz.2 + 6 2472 c.642G>C c.(640-642)CTG>CTC p.L214L ZNF664_uc001uga.2_Silent_p.L214L|ZNF664_uc001ugb.2_Silent_p.L214L NM_152437 NP_689650 Q8N3J9 ZN664_HUMAN zinc finger protein 664 214 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) GTTCGAGCCTGTGCATCCACC 0.527 NaN 0 0 0 0.001168 0 3 94 SFRS8 6433 broad.mit.edu 37 12 132241141 132241141 + Nonsense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:132241141A>T uc001uja.1 + 11 1812 c.1672A>T c.(1672-1674)AAG>TAG p.K558* SFRS8_uc010tbn.1_Nonsense_Mutation_p.K558*|SFRS8_uc001ujb.1_Nonsense_Mutation_p.K351* NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 558 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) AGGCGGGAAGAAGGAGGCATC 0.607 NaN 0 0 0 0.008291 0 9 14 RNF17 56163 broad.mit.edu 37 13 25362208 25362208 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr13:25362208G>C uc001upr.2 + 7 735 c.694G>C c.(694-696)GAG>CAG p.E232Q RNF17_uc010tdd.1_Missense_Mutation_p.E91Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.E232Q|RNF17_uc001ups.2_Missense_Mutation_p.E171Q|RNF17_uc001upq.1_Missense_Mutation_p.E232Q NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 232 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTACATTGAAGAGAAAAAAAA 0.303 NaN 0 0 0 0.007413 0 19 14 FRY 10129 broad.mit.edu 37 13 32869562 32869562 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr13:32869562C>G uc001utx.2 + 61 9503 c.9007C>G c.(9007-9009)CTT>GTT p.L3003V FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.L534V|FRY_uc010tdx.1_Missense_Mutation_p.L373V NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 3003 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CACTACTTTTCTTCCAGACTC 0.567 NaN 0 0 0 0.010818 0 27 25 FREM2 341640 broad.mit.edu 37 13 39265823 39265823 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr13:39265823G>C uc001uwv.2 + 1 4651 c.4342G>C c.(4342-4344)GAC>CAC p.D1448H NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1448 Extracellular (Potential).|CSPG 10. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AAGCACTAGTGACTTGAACAG 0.488 NaN 0 0 0 0.005524 0 31 30 ZIC2 7546 broad.mit.edu 37 13 100634920 100634920 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr13:100634920G>C uc001von.2 + 1 602 c.602G>C c.(601-603)CGG>CCG p.R201P NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 201 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCCAGCCCGCGGACCGACCCC 0.627 NaN 0 0 0 0.001984 0 7 24 TMTC4 84899 broad.mit.edu 37 13 101315400 101315400 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr13:101315400C>A uc001vou.2 - 4 473 c.313G>T c.(313-315)GTG>TTG p.V105L TMTC4_uc001vot.2_Missense_Mutation_p.V124L|TMTC4_uc010tja.1_Intron NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 105 integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGAAAGCCCACGGGGTGGAAG 0.562 NaN 1 0 4.10826e-27 0.00361 4.75018e-27 37 50 ACIN1 22985 broad.mit.edu 37 14 23528466 23528466 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:23528466C>T uc001wit.3 - 19 4245 c.3917G>A c.(3916-3918)AGG>AAG p.R1306K CDH24_uc001wil.2_5'Flank|CDH24_uc010akf.2_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R548K|ACIN1_uc001wiq.3_Missense_Mutation_p.R548K|ACIN1_uc001wir.3_Missense_Mutation_p.R579K|ACIN1_uc001wis.3_Missense_Mutation_p.R987K|ACIN1_uc010akg.2_Missense_Mutation_p.R1293K NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1306 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GTCCCTTTCCCTATCCCGATC 0.507 NaN OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010818 0 25 95 RABGGTA 5875 broad.mit.edu 37 14 24738749 24738749 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:24738749G>A uc001wof.2 - 5 1001 c.579C>T c.(577-579)CCC>CCT p.P193P RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Silent_p.P193P|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 193 PFTA 4. visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) AATCCGGCTGGGGGTGCAGCT 0.592 NaN 0 0 0 0.00361 0 40 156 ADCY4 196883 broad.mit.edu 37 14 24800296 24800296 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:24800296G>A uc001wov.2 - 6 864 c.858C>T c.(856-858)GCC>GCT p.A286A ADCY4_uc001wow.2_Silent_p.A286A|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.A286A|ADCY4_uc001woy.2_Silent_p.A286A NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 286 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) AACACTCGCTGGCCAGCCGCG 0.602 NaN 0 0 0 0.012213 0 21 29 FOXG1 2290 broad.mit.edu 37 14 29237880 29237880 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:29237880G>A uc001wqe.2 + 1 1594 c.1395G>A c.(1393-1395)ACG>ACA p.T465T NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 465 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GTTTTACGACGGGACTGTCTG 0.547 NaN 0 0 0 0.00361 0 41 50 SOS2 6655 broad.mit.edu 37 14 50649252 50649252 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:50649252C>T uc001wxs.3 - 6 885 c.787G>A c.(787-789)GAC>AAC p.D263N SOS2_uc010tql.1_Missense_Mutation_p.D263N|SOS2_uc001wxt.2_5'Flank NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 263 DH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) TCAACTGTGTCTTCAATCAAA 0.333 NaN 0 0 0 0.001855 0 11 19 C14orf101 54916 broad.mit.edu 37 14 57083924 57083924 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:57083924T>C uc001xcm.2 + 9 1087 c.965T>C c.(964-966)GTA>GCA p.V322A C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_Intron|C14orf101_uc010trf.1_5'UTR|C14orf101_uc001xco.2_5'UTR NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 322 Helical; (Potential). integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) CCATCATTAGTATGGCTTTTT 0.284 NaN 0 0 0 0.001368 0 9 29 SLC38A6 145389 broad.mit.edu 37 14 61486258 61486258 + Splice_Site SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:61486258G>C uc001xfg.1 + 5 480 c.364_splice c.e5-1 p.L122_splice SLC38A6_uc001xfh.1_Splice_Site_p.L122_splice|SLC38A6_uc001xfi.2_Splice_Site|SLC38A6_uc001xfj.1_Splice_Site|SLC38A6_uc001xfk.2_Splice_Site|SLC38A6_uc010trz.1_Splice_Site_p.L99_splice NM_153811 NP_722518 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 amino acid transport|sodium ion transport integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TTCTTTTACAGTTGGTGGTGG 0.323 NaN 0 0 0 0.00278 0 20 86 SGPP1 81537 broad.mit.edu 37 14 64153045 64153045 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:64153045C>A uc001xgj.2 - 3 1198 c.1104G>T c.(1102-1104)CGG>CGT p.R368R NM_030791 NP_110418 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 368 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) CTATGAGGATCCGCAATATGG 0.378 NaN 1 0 1.64113e-05 0.010504 1.68672e-05 19 40 MTHFD1 4522 broad.mit.edu 37 14 64898301 64898301 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:64898301C>T uc001xhb.2 + 14 1750 c.1363C>T c.(1363-1365)CTC>TTC p.L455F MTHFD1_uc010aqe.2_Missense_Mutation_p.L491F|MTHFD1_uc010aqf.2_Missense_Mutation_p.L511F NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 455 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) AGCTAATAACCTCGTTGCTGC 0.463 NaN 0 0 0 0.00361 0 40 28 TMEM229B 161145 broad.mit.edu 37 14 67940532 67940532 + Silent SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:67940532A>G uc001xjk.2 - 3 519 c.109T>C c.(109-111)TTG>CTG p.L37L TMEM229B_uc001xjj.1_RNA NM_182526 NP_872332 Q8NBD8 T229B_HUMAN transmembrane protein 229B 37 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 TTCCAGTTCAAGTTCACCACG 0.632 NaN 0 0 0 0.003163 0 10 17 ZFYVE26 23503 broad.mit.edu 37 14 68264756 68264756 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:68264756C>G uc001xka.2 - 11 2362 c.2223G>C c.(2221-2223)AAG>AAC p.K741N ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.K741N|ZFYVE26_uc010tta.1_Missense_Mutation_p.K741N NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 741 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TTGTCACCACCTTGTGTCTCC 0.542 NaN 0 0 0 0.00361 0 83 36 KIAA0317 9870 broad.mit.edu 37 14 75142403 75142403 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:75142403T>A uc001xqb.2 - 8 1584 c.1079A>T c.(1078-1080)AAG>ATG p.K360M KIAA0317_uc010tut.1_Missense_Mutation_p.K199M|KIAA0317_uc001xqc.2_Missense_Mutation_p.K360M NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 360 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) AGGTCCAACCTTTGGTGACAC 0.478 NaN 0 0 0 0.00361 0 356 202 C14orf102 55051 broad.mit.edu 37 14 90767622 90767622 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:90767622G>C uc001xyi.1 - 7 1537 c.1506C>G c.(1504-1506)TTC>TTG p.F502L C14orf102_uc010atp.1_Missense_Mutation_p.F7L|C14orf102_uc001xyj.1_Missense_Mutation_p.F271L NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 502 protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) TGTCGGGTTTGAAGAAGGTGA 0.562 NaN 0 0 0 0.00361 0 42 24 TTC7B 145567 broad.mit.edu 37 14 91077094 91077094 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:91077094G>A uc001xyp.2 - 17 2080 c.1958C>T c.(1957-1959)CCC>CTC p.P653L TTC7B_uc001xyo.2_Missense_Mutation_p.P80L|TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 653 binding ovary(2) 2 Melanoma(154;0.222) ACCTGTCTCGGGATCGCTGAA 0.498 NaN 0 0 0 0.004482 0 8 106 ASB2 51676 broad.mit.edu 37 14 94404063 94404063 + Silent SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:94404063G>C uc001ycc.1 - 7 2097 c.1608C>G c.(1606-1608)GCC>GCG p.A536A ASB2_uc001ycb.1_Silent_p.A230A|ASB2_uc001ycd.2_Silent_p.A584A|ASB2_uc001yce.1_Silent_p.A482A NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 536 SOCS box. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CCTTGATGACGGCCCAGTCCT 0.617 NaN 0 0 0 0.00361 0 49 28 EML1 2009 broad.mit.edu 37 14 100402395 100402395 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:100402395G>A uc001ygs.2 + 18 2008 c.1939G>A c.(1939-1941)GAC>AAC p.D647N EML1_uc010tww.1_Missense_Mutation_p.D635N|EML1_uc001ygr.2_Missense_Mutation_p.D666N NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 647 WD 8. cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) AGGCTCACATGACAACTGCAT 0.423 NaN 0 0 0 0.012319 0 15 51 WDR20 91833 broad.mit.edu 37 14 102675273 102675273 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:102675273G>A uc001ykz.2 + 3 815 c.766G>A c.(766-768)GGT>AGT p.G256S WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_Missense_Mutation_p.G132S|WDR20_uc001ylb.2_Missense_Mutation_p.G195S|WDR20_uc010txu.1_Missense_Mutation_p.G287S|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.G256S|WDR20_uc001yle.2_Missense_Mutation_p.G195S|WDR20_uc001ylf.2_Missense_Mutation_p.G268S NM_144574 NP_653175 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 isoform 2 256 WD 2. 0 GGAGCTGCACGGTACGATGAA 0.557 NaN 0 0 0 0.00632 0 24 1 RCOR1 23186 broad.mit.edu 37 14 103188691 103188691 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:103188691A>T uc001ymb.2 + 11 1348 c.1348A>T c.(1348-1350)AGT>TGT p.S450C NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 450 blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 CAATGGGCCCAGTAACCAGAA 0.418 NaN 0 0 0 0.00361 0 53 44 AHNAK2 113146 broad.mit.edu 37 14 105410488 105410488 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:105410488G>A uc010axc.1 - 7 11420 c.11300C>T c.(11299-11301)CCC>CTC p.P3767L AHNAK2_uc001ypx.2_Missense_Mutation_p.P3667L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3767 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTCCACGCTGGGCAGAGACAC 0.617 NaN 0 0 0 0.00361 0 82 97 C15orf55 256646 broad.mit.edu 37 15 34640693 34640693 + Silent SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:34640693A>G uc001zif.2 + 2 695 c.540A>G c.(538-540)CCA>CCG p.P180P C15orf55_uc010ucc.1_Silent_p.P208P|C15orf55_uc010ucd.1_Silent_p.P198P NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 180 Pro-rich. cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) AAGCTTGGCCAGGGCCACATG 0.582 NaN T BRD3|BRD4 lethal midline carcinoma 0 0 0 0.003163 0 10 7 GJD2 57369 broad.mit.edu 37 15 35045148 35045148 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:35045148G>A uc001zis.1 - 2 497 c.497C>T c.(496-498)CCA>CTA p.P166L uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 166 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TAAACAATCTGGCTCTGTCTC 0.507 NaN 0 0 0 0.00361 0 61 122 TP53BP1 7158 broad.mit.edu 37 15 43712625 43712625 + Missense_Mutation SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:43712625T>G uc001zrs.2 - 21 4692 c.4544A>C c.(4543-4545)TAT>TCT p.Y1515S TP53BP1_uc010udp.1_Missense_Mutation_p.Y1515S|TP53BP1_uc001zrq.3_Missense_Mutation_p.Y1520S|TP53BP1_uc001zrr.3_Missense_Mutation_p.Y1520S|TP53BP1_uc010udq.1_Missense_Mutation_p.Y1520S NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1515 Interaction with dimethylated histone H4. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GAGCAATTTATACTTCCCAGC 0.488 NaN Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 0 0 0 0.004656 0 19 289 SPATA5L1 79029 broad.mit.edu 37 15 45713304 45713304 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:45713304C>T uc001zve.2 + 8 2267 c.2158C>T c.(2158-2160)CTA>TTA p.L720L SPATA5L1_uc001zvf.2_RNA NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 720 cytoplasm ATP binding|nucleoside-triphosphatase activity ovary(3)|skin(1) 4 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) AGAGCACTTTCTAAAATCACT 0.348 NaN 0 0 0 0.000602 0 5 9 UNC13C 440279 broad.mit.edu 37 15 54306784 54306784 + Missense_Mutation SNP G G C rs142320070 by1000genomes TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:54306784G>C uc002ack.2 + 1 1684 c.1684G>C c.(1684-1686)GAA>CAA p.E562Q NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 562 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) GTCTTACTCAGAAGATTTTTC 0.423 NaN 0 0 0 0.003163 0 12 4 PIGB 9488 broad.mit.edu 37 15 55647054 55647054 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:55647054A>G uc002act.2 + 11 1712 c.1396A>G c.(1396-1398)AAA>GAA p.K466E PIGB_uc010ugg.1_Missense_Mutation_p.K271E NM_004855 NP_004846 Q92521 PIGB_HUMAN phosphatidylinositol glycan, class B 466 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity 0 all cancers(107;0.0255) CCTGACTGGAAAAAGTCATTA 0.378 NaN 0 0 0 0.004007 0 10 5 PAQR5 54852 broad.mit.edu 37 15 69677081 69677081 + Nonsense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:69677081G>A uc002arz.2 + 5 623 c.245G>A c.(244-246)TGG>TAG p.W82* PAQR5_uc002asa.2_Nonsense_Mutation_p.W82* NM_017705 NP_060175 Q9NXK6 MPRG_HUMAN progestin and adipoQ receptor family member V 82 Helical; Name=2; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane receptor activity|steroid binding ovary(2) 2 AGCTACTCCTGGCCCATGCTT 0.527 NaN 0 0 0 0.00361 0 53 139 TLE3 7090 broad.mit.edu 37 15 70389121 70389121 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:70389121C>G uc002asm.2 - 1 1136 c.17G>C c.(16-18)AGA>ACA p.R6T TLE3_uc002ask.2_5'Flank|TLE3_uc002asl.2_5'Flank|TLE3_uc010ukd.1_5'Flank|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.R6T|TLE3_uc002asn.2_Missense_Mutation_p.R6T|TLE3_uc002asp.2_Missense_Mutation_p.R6T|TLE3_uc002aso.2_Missense_Mutation_p.R6T NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 6 Gln-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 CACCGGATGTCTGCCCTGCGG 0.592 NaN 0 0 0 0.001855 0 9 29 CYP1A1 1543 broad.mit.edu 37 15 75013618 75013618 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:75013618G>T uc002ayp.3 - 5 1210 c.1088C>A c.(1087-1089)TCC>TAC p.S363Y CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.S99Y|CYP1A1_uc010bjx.2_Missense_Mutation_p.S99Y|CYP1A1_uc002ayq.3_Missense_Mutation_p.S363Y|CYP1A1_uc010bjy.2_Missense_Mutation_p.S363Y|CYP1A1_uc010bjz.1_Missense_Mutation_p.S99Y NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 363 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GGGCAGATGGGATCTGTCAGA 0.607 NaN Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 1 0 2.70639e-06 0.002299 2.8032e-06 19 43 KIAA1024 23251 broad.mit.edu 37 15 79748439 79748439 + Splice_Site SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:79748439G>A uc002bew.1 + 2 26 c.-49_splice c.e2-1 KIAA1024_uc010unk.1_5'Flank NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 TGCCACCACAGAACTGACCTG 0.403 NaN 0 0 0 0.008291 0 8 6 ADAMTSL3 57188 broad.mit.edu 37 15 84706492 84706492 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:84706492A>T uc002bjz.3 + 30 5234 c.5010A>T c.(5008-5010)AAA>AAT p.K1670N ADAMTSL3_uc010bmu.1_Intron NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1670 PLAC. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TGTTTGTAAAACATCTTAATT 0.373 NaN 0 0 0 0.00623 0 30 38 TXNDC11 51061 broad.mit.edu 37 16 11794368 11794368 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:11794368T>A uc010buu.1 - 7 989 c.927A>T c.(925-927)AAA>AAT p.K309N TXNDC11_uc002dbg.1_Missense_Mutation_p.K282N NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 309 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 AGGATACCAGTTTCGCAAGAT 0.328 NaN 0 0 0 0.00361 0 45 26 PDILT 204474 broad.mit.edu 37 16 20380853 20380853 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:20380853G>A uc002dhc.1 - 8 1300 c.1077C>T c.(1075-1077)CTC>CTT p.L359L NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 359 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CAAATTTCTTGAGGCTTTCGT 0.443 NaN 0 0 0 0.00361 0 52 31 SULT1A1 6817 broad.mit.edu 37 16 28617545 28617545 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:28617545C>G uc002dqi.2 - 6 1080 c.607G>C c.(607-609)GAG>CAG p.E203Q uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqk.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dql.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqm.2_Missense_Mutation_p.E125Q|SULT1A1_uc002dqn.2_Missense_Mutation_p.E294Q|SULT1A1_uc002dqo.2_Missense_Mutation_p.E203Q|SULT1A1_uc002dqp.2_Missense_Mutation_p.E203Q NM_177534 NP_803878 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, 203 PAPS. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 TTTTGAATCTCCCTTTTCGGG 0.542 NaN 0 0 0 0.001368 0 9 2 ATP2A1 487 broad.mit.edu 37 16 28911941 28911941 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:28911941C>A uc002dro.1 + 15 1988 c.1804C>A c.(1804-1806)CCT>ACT p.P602T uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.P602T|ATP2A1_uc002drp.1_Missense_Mutation_p.P477T NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 602 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CATGCTGGACCCTCCGCGCAA 0.612 NaN 1 0 2.78669e-64 0.00361 3.31417e-64 69 46 ATP2A1 487 broad.mit.edu 37 16 28911981 28911981 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:28911981G>A uc002dro.1 + 15 2028 c.1844G>A c.(1843-1845)CGT>CAT p.R615H uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R615H|ATP2A1_uc002drp.1_Missense_Mutation_p.R490H NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 615 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAGCTGTGCCGTGACGCCGGG 0.612 NaN 0 0 0 0.00361 0 50 42 CD19 930 broad.mit.edu 37 16 28947484 28947484 + Silent SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:28947484G>C uc002drs.2 + 6 1019 c.957G>C c.(955-957)CTG>CTC p.L319L uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L319L NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 319 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 CCCTGGTCCTGAGGAGGAAAA 0.547 NaN 0 0 0 0.007291 0 22 52 ZNF646 9726 broad.mit.edu 37 16 31090894 31090894 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:31090894C>T uc002eap.2 + 2 3538 c.3249C>T c.(3247-3249)GTC>GTT p.V1083V NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1083 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 TCTGCCCTGTCTGCTCCCGCT 0.627 NaN 0 0 0 0.00361 0 129 272 COX6A2 1339 broad.mit.edu 37 16 31439103 31439103 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:31439103G>T uc002ebx.1 - 3 361 c.286C>A c.(286-288)CAC>AAC p.H96N NM_005205 NP_005196 Q02221 CX6A2_HUMAN cytochrome c oxidase subunit VIa polypeptide 2 96 generation of precursor metabolites and energy mitochondrial respiratory chain complex IV cytochrome-c oxidase activity 0 CCTCAGGGGTGTTCGTAGCCC 0.682 NaN 1 0 2.7689e-08 0.001984 2.90865e-08 5 8 ARMC5 79798 broad.mit.edu 37 16 31476086 31476086 + Missense_Mutation SNP A A C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:31476086A>C uc002ecc.2 + 4 2271 c.1742A>C c.(1741-1743)GAG>GCG p.E581A ARMC5_uc010vfn.1_Missense_Mutation_p.E676A|ARMC5_uc010vfo.1_Missense_Mutation_p.E613A|ARMC5_uc002eca.3_Missense_Mutation_p.E581A|ARMC5_uc010vfp.1_Missense_Mutation_p.E389A|ARMC5_uc002ecb.2_Missense_Mutation_p.E581A NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 581 binding pancreas(1) 1 GCCTGCCTCGAGGCCTTCGTG 0.716 NaN 0 0 0 0.001168 0 5 13 CX3CL1 6376 broad.mit.edu 37 16 57416799 57416799 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:57416799G>T uc002eli.2 + 3 1116 c.1049G>T c.(1048-1050)GGC>GTC p.G350V NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 350 Helical; (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 GCCTTCCTTGGCCTCCTCTTC 0.667 NaN 1 0 0.000132079 0.008871 0.000135122 14 2 GPR56 9289 broad.mit.edu 37 16 57685294 57685294 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:57685294G>T uc002emb.2 + 4 539 c.247G>T c.(247-249)GAC>TAC p.D83Y GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.D83Y|GPR56_uc002emf.2_Missense_Mutation_p.D83Y|GPR56_uc010vhs.1_Missense_Mutation_p.D83Y|GPR56_uc002emd.2_Missense_Mutation_p.D83Y|GPR56_uc002eme.2_Missense_Mutation_p.D83Y|GPR56_uc010vht.1_Missense_Mutation_p.D88Y|GPR56_uc002emg.3_Missense_Mutation_p.D83Y|GPR56_uc010vhu.1_5'UTR NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 83 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 ATCCTTCCCTGACCCCAGGGG 0.577 NaN 1 0 1.52319e-26 0.00874 1.75813e-26 32 4 SLC9A5 6553 broad.mit.edu 37 16 67290524 67290524 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:67290524C>A uc002esm.2 + 6 1127 c.1064C>A c.(1063-1065)TCT>TAT p.S355Y SLC9A5_uc010cee.2_Missense_Mutation_p.S60Y|SLC9A5_uc010vji.1_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 355 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GTGGACTCTTCTAAGTGGGCC 0.537 NaN 1 0 5.41189e-41 0.00361 6.37933e-41 56 3 ACD 65057 broad.mit.edu 37 16 67693135 67693135 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:67693135C>T uc002etq.3 - 6 1085 c.748G>A c.(748-750)GCA>ACA p.A250T ACD_uc002etp.3_Missense_Mutation_p.A247T|ACD_uc002etr.3_Missense_Mutation_p.A247T|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 250 Interaction with POT1. intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding pancreas(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) ACAGTACCTGCATTGGACGAG 0.532 NaN 0 0 0 0.00361 0 67 4 NFAT5 10725 broad.mit.edu 37 16 69729203 69729203 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:69729203C>A uc002exm.1 + 13 5733 c.4525C>A c.(4525-4527)CAG>AAG p.Q1509K NFAT5_uc002exi.2_Missense_Mutation_p.Q1433K|NFAT5_uc002exj.1_Missense_Mutation_p.Q1433K|NFAT5_uc002exk.1_Missense_Mutation_p.Q1433K|NFAT5_uc002exl.1_Missense_Mutation_p.Q1527K|NFAT5_uc002exn.1_Missense_Mutation_p.Q1526K|NFAT5_uc002exo.1_Intron NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 1509 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AAACACCAACCAGAACATCGA 0.438 NaN 1 0 1.53716e-24 0.00361 1.77119e-24 45 0 VAT1L 57687 broad.mit.edu 37 16 77896683 77896683 + Silent SNP C C T rs147711332 TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:77896683C>T uc002ffg.1 + 4 715 c.618C>T c.(616-618)AAC>AAT p.N206N NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 206 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 CTGTCCCCAACGTGACTGTCT 0.478 NaN 0 0 0 0.00361 0 54 4 OR1A2 26189 broad.mit.edu 37 17 3100986 3100986 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:3100986C>T uc002fvd.1 + 1 174 c.174C>T c.(172-174)CCC>CCT p.P58P NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TTCACAACCCCATGTATTTTC 0.463 NaN 0 0 0 0.00361 0 112 168 TRPV1 7442 broad.mit.edu 37 17 3477062 3477062 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:3477062G>C uc010vrr.1 - 12 2495 c.1968C>G c.(1966-1968)TTC>TTG p.F656L TRPV1_uc010vro.1_Missense_Mutation_p.F667L|TRPV1_uc010vrp.1_Missense_Mutation_p.F596L|TRPV1_uc010vrq.1_Missense_Mutation_p.F654L|TRPV1_uc010vrs.1_Missense_Mutation_p.F656L|TRPV1_uc010vrt.1_Missense_Mutation_p.F656L|TRPV1_uc010vru.1_Missense_Mutation_p.F656L NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 656 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) AGACAGCCTTGAAGTCATAGT 0.527 NaN 0 0 0 0.00623 0 34 50 ZZEF1 23140 broad.mit.edu 37 17 3919633 3919633 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:3919633T>C uc002fxe.2 - 49 8193 c.8129A>G c.(8128-8130)AAC>AGC p.N2710S ZZEF1_uc002fxg.1_Missense_Mutation_p.N31S NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2710 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTTGGTGTTGTTGTTATACGG 0.612 NaN 0 0 0 0.00361 0 37 48 MINK1 50488 broad.mit.edu 37 17 4797304 4797304 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:4797304C>T uc010vsl.1 + 22 2782 c.2586C>T c.(2584-2586)AGC>AGT p.S862S MINK1_uc010vsk.1_Silent_p.S833S|MINK1_uc010vsm.1_Silent_p.S842S|MINK1_uc010vsn.1_Silent_p.S825S|MINK1_uc010vso.1_Silent_p.S770S|MINK1_uc010vsp.1_Silent_p.S323S NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 862 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 ATACAGACAGCGTCAGCACCA 0.657 NaN 0 0 0 0.008291 0 6 11 KIAA0753 9851 broad.mit.edu 37 17 6493200 6493200 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:6493200C>T uc002gde.3 - 18 3044 c.2685G>A c.(2683-2685)ATG>ATA p.M895I KIAA0753_uc010vtd.1_Missense_Mutation_p.M351I|KIAA0753_uc010clo.2_Missense_Mutation_p.M596I|KIAA0753_uc010vte.1_Missense_Mutation_p.M596I NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 895 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) TGCTGTGCTGCATACCCGGTG 0.522 NaN 0 0 0 0.009535 0 24 30 XAF1 54739 broad.mit.edu 37 17 6674105 6674105 + Silent SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:6674105A>T uc002gdn.2 + 6 893 c.651A>T c.(649-651)ATA>ATT p.I217I XAF1_uc002gdm.1_Silent_p.I157I|XAF1_uc002gdo.2_Silent_p.I198I|XAF1_uc002gdp.2_Silent_p.I166I|XAF1_uc002gdq.2_Silent_p.I49I|XAF1_uc002gdr.2_Silent_p.I147I NM_017523 NP_059993 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 isoform 1 217 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding 0 CAAGAAGTATAAACAGATTTC 0.398 NaN 0 0 0 0.012319 0 18 13 C17orf74 201243 broad.mit.edu 37 17 7330284 7330284 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:7330284C>A uc002ggw.2 + 3 1047 c.974C>A c.(973-975)CCT>CAT p.P325H FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 325 integral to membrane 0 Prostate(122;0.157) GAGCGCCCCCCTGCCTCGGTG 0.697 NaN 1 0 3.01185e-09 0.003954 3.19409e-09 23 12 CHD3 1107 broad.mit.edu 37 17 7800409 7800409 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:7800409C>G uc002gje.2 + 11 1866 c.1716C>G c.(1714-1716)ATC>ATG p.I572M CHD3_uc002gjd.2_Missense_Mutation_p.I631M|CHD3_uc002gjf.2_Missense_Mutation_p.I572M|CHD3_uc002gjg.1_Missense_Mutation_p.I400M NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 572 Chromo 1. 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) AGCTGGAAATCTTCCATTTGG 0.532 NaN 0 0 0 0.010729 0 9 43 COX10 1352 broad.mit.edu 37 17 13977769 13977769 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:13977769G>A uc002gof.3 + 2 377 c.173G>A c.(172-174)CGC>CAC p.R58H COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_5'UTR NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 58 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TTCCTCAAACGCATGGTATGT 0.348 NaN 0 0 0 0.00361 0 77 110 RAI1 10743 broad.mit.edu 37 17 17697690 17697690 + Missense_Mutation SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:17697690T>G uc002grm.2 + 3 1897 c.1428T>G c.(1426-1428)CAT>CAG p.H476Q RAI1_uc002grn.1_Missense_Mutation_p.H476Q NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 476 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CAGAGCAGCATAAAAGCCAGC 0.627 NaN 0 0 0 0.001855 0 9 27 CCDC144B 284047 broad.mit.edu 37 17 18513402 18513402 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:18513402C>A uc002gub.1 - 3 704 c.619G>T c.(619-621)GAC>TAC p.D207Y CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.D207Y NM_182568 NP_872374 coiled-coil domain containing 144B ovary(1)|skin(1) 2 TGGCACAGGTCATGGAGAGTA 0.433 NaN 1 0 1.61004e-24 0.00361 1.85196e-24 42 95 MAPK7 5598 broad.mit.edu 37 17 19286175 19286175 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:19286175G>A uc002gvn.2 + 6 2599 c.2213G>A c.(2212-2214)GGG>GAG p.G738E MAPK7_uc002gvo.2_Missense_Mutation_p.G599E|MAPK7_uc002gvq.2_Missense_Mutation_p.G738E|MAPK7_uc002gvp.2_Missense_Mutation_p.G738E|uc010vyt.1_5'Flank NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 738 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity). cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) AAGGGCAGTGGGGCTGGCTAC 0.577 NaN 0 0 0 0.00361 0 60 68 ACACA 31 broad.mit.edu 37 17 35454054 35454054 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:35454054C>G uc002hnm.2 - 54 6848 c.6657G>C c.(6655-6657)CTG>CTC p.L2219L ACACA_uc002hnk.2_Silent_p.L2141L|ACACA_uc002hnl.2_Silent_p.L2161L|ACACA_uc002hnn.2_Silent_p.L2219L|ACACA_uc002hno.2_Silent_p.L2256L|ACACA_uc010cuy.2_Silent_p.L864L|ACACA_uc010wdb.1_Silent_p.L257L|ACACA_uc010wdc.1_Silent_p.L345L NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 2219 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GAAGACGCCTCAGCCGCCAGT 0.488 NaN 0 0 0 0.00278 0 19 11 KRT222 125113 broad.mit.edu 37 17 38812797 38812797 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:38812797G>C uc002hvc.2 - 6 810 c.745C>G c.(745-747)CTT>GTT p.L249V KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.L209V NM_152349 NP_689562 Q8N1A0 KT222_HUMAN truncated type I keratin KA21 249 intermediate filament structural molecule activity central_nervous_system(1)|skin(1) 2 TCAAATCGAAGAGAAACAGAC 0.363 NaN 0 0 0 0.004656 0 23 34 KRTAP3-1 83896 broad.mit.edu 37 17 39165064 39165064 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:39165064G>A uc002hvt.1 - 1 303 c.263C>T c.(262-264)CCT>CTT p.P88L NM_031958 NP_114164 Q9BYR8 KRA31_HUMAN keratin associated protein 3.1 88 keratin filament structural molecule activity 0 Breast(137;0.00043) CTCACAGCCAGGCTGAACATA 0.582 NaN 0 0 0 0.002299 0 19 42 KRT36 8689 broad.mit.edu 37 17 39646100 39646100 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:39646100C>T uc002hwt.2 - 1 17 c.17G>A c.(16-18)TGC>TAC p.C6Y NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 6 Head. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) GGTAGGGGTGCAGGTCTGGGT 0.582 NaN 0 0 0 0.006214 0 9 37 ATP6V0A1 535 broad.mit.edu 37 17 40635081 40635081 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:40635081C>A uc002hzr.2 + 9 909 c.742C>A c.(742-744)CCT>ACT p.P248T ATP6V0A1_uc002hzq.2_Missense_Mutation_p.P248T|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.P255T|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.P205T|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.P205T|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.P107T NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 248 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CTATCCCTGTCCTGAGACACC 0.408 NaN 1 0 3.51602e-12 0.008871 3.82001e-12 16 50 IMP5 162540 broad.mit.edu 37 17 43922946 43922946 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:43922946G>A uc010wka.1 + 1 674 c.674G>A c.(673-675)GGT>GAT p.G225D LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 225 Cytoplasmic (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) GGGGGGTCTGGTGGTCACCAT 0.652 NaN 0 0 0 0.004482 0 9 12 MAPT 4137 broad.mit.edu 37 17 44067379 44067379 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:44067379A>G uc002ijr.3 + 8 1638 c.1318A>G c.(1318-1320)AAA>GAA p.K440E MAPT_uc010dau.2_Missense_Mutation_p.K440E|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 440 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) TTCCTCTCCTAAATACGTCTC 0.537 NaN 0 0 0 0.00361 0 107 117 KPNB1 3837 broad.mit.edu 37 17 45752045 45752045 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:45752045C>G uc002ilt.1 + 15 2145 c.1809C>G c.(1807-1809)ATC>ATG p.I603M KPNB1_uc010wkw.1_Missense_Mutation_p.I458M|KPNB1_uc010wkx.1_Missense_Mutation_p.I387M NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 603 HEAT 7. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CTTTGCAGATCTCTGATGTGG 0.463 NaN 0 0 0 0.004007 0 13 200 LPO 4025 broad.mit.edu 37 17 56327830 56327830 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:56327830G>A uc002ivt.2 + 7 944 c.628G>A c.(628-630)GAC>AAC p.D210N LPO_uc010dco.2_Missense_Mutation_p.D210N|LPO_uc010wnr.1_Missense_Mutation_p.D127N|LPO_uc010wns.1_Missense_Mutation_p.D151N|LPO_uc010dcp.2_Missense_Mutation_p.D127N|LPO_uc010dcq.2_5'UTR|LPO_uc010dcr.2_5'Flank NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 210 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 GGGTGTTCTGGACCAAAACAG 0.527 NaN 0 0 0 0.005443 0 24 47 MRC2 9902 broad.mit.edu 37 17 60755974 60755974 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:60755974A>T uc002jad.2 + 13 2564 c.2162A>T c.(2161-2163)CAC>CTC p.H721L MRC2_uc010ddq.1_RNA|MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 721 Extracellular (Potential).|C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 GAGGAGGAGCACTTTGTGGCC 0.647 NaN 0 0 0 0.010729 0 10 38 CCDC46 201134 broad.mit.edu 37 17 63848079 63848079 + Missense_Mutation SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:63848079T>G uc002jfl.2 - 21 2456 c.2237A>C c.(2236-2238)CAG>CCG p.Q746P CCDC46_uc010deo.2_Missense_Mutation_p.Q488P|CCDC46_uc002jfm.2_Missense_Mutation_p.Q746P|CCDC46_uc010dep.2_Missense_Mutation_p.Q704P NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 746 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) TACCAGCTGCTGTTTCCGCTG 0.403 NaN 0 0 0 0.005524 0 30 15 KCNJ2 3759 broad.mit.edu 37 17 68171368 68171368 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:68171368A>G uc010dfg.2 + 2 589 c.188A>G c.(187-189)GAG>GGG p.E63G KCNJ2_uc002jir.2_Missense_Mutation_p.E63G NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 63 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) AATGTGGGTGAGAAGGGGCAA 0.527 NaN 0 0 0 0.004482 0 6 75 ITGB4 3691 broad.mit.edu 37 17 73746222 73746222 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:73746222T>A uc002jpg.2 + 28 3534 c.3347T>A c.(3346-3348)ATG>AAG p.M1116K ITGB4_uc002jph.2_Missense_Mutation_p.M1116K|ITGB4_uc002jpi.3_Missense_Mutation_p.M1116K|ITGB4_uc002jpj.2_Missense_Mutation_p.M1116K NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1116 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACGAGTCAGATGTTGTCATCA 0.632 NaN OREG0024739 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 18 78 DNAH17 8632 broad.mit.edu 37 17 76554223 76554223 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:76554223G>A uc002jvv.1 - 10 1357 c.1251C>T c.(1249-1251)GGC>GGT p.G417G RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCTCCAGGTTGCCCACAAACT 0.433 NaN 0 0 0 0.008871 0 13 11 CARD14 79092 broad.mit.edu 37 17 78179329 78179329 + Splice_Site SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:78179329G>C uc002jxw.1 + 19 2765 c.2570_splice c.e19-1 p.E857_splice CARD14_uc002jxt.1_Splice_Site NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GTCACCTGTAGAGTACTTGAG 0.632 NaN 0 0 0 0.009096 0 3 8 PCYT2 5833 broad.mit.edu 37 17 79866776 79866776 + Missense_Mutation SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:79866776T>G uc002kcf.1 - 3 379 c.316A>C c.(316-318)AAC>CAC p.N106H PCYT2_uc010wva.1_Missense_Mutation_p.N74H|PCYT2_uc010wvb.1_Missense_Mutation_p.N74H|PCYT2_uc002kce.1_Missense_Mutation_p.N28H|PCYT2_uc002kcg.1_Missense_Mutation_p.N117H|PCYT2_uc002kch.1_Missense_Mutation_p.N106H|PCYT2_uc002kci.1_Missense_Mutation_p.N47H|PCYT2_uc010dii.1_Missense_Mutation_p.N106H|PCYT2_uc010wvc.1_Missense_Mutation_p.N28H NM_002861 NP_002852 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 106 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AAGTCACAGTTGTATTTGTCC 0.587 NaN 0 0 0 0.00632 0 20 44 TBCD 6904 broad.mit.edu 37 17 80772748 80772748 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:80772748G>T uc002kfz.2 + 13 1386 c.1256G>T c.(1255-1257)GGA>GTA p.G419V TBCD_uc002kfx.1_Missense_Mutation_p.G402V|TBCD_uc002kfy.1_Missense_Mutation_p.G419V NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 419 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TGGCATGGGGGATGTCTGGCG 0.602 NaN 1 0 5.04308e-16 0.00623 5.62595e-16 28 16 SMCHD1 23347 broad.mit.edu 37 18 2688390 2688390 + Splice_Site SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:2688390A>G uc002klm.3 + 6 828 c.639_splice c.e6-2 p.S213_splice NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible chromosome organization ATP binding 0 GTTTTATTTTAGTGATCATTC 0.358 NaN 0 0 0 0.005524 0 30 32 KIAA0802 23255 broad.mit.edu 37 18 8784103 8784103 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:8784103G>T uc002knr.2 + 6 1135 c.993G>T c.(991-993)GGG>GGT p.G331G KIAA0802_uc002knq.2_Silent_p.G331G|KIAA0802_uc010dkw.1_Silent_p.G169G NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 682 Potential. 0 CCGGGGGTGGGGCCCCCCTGC 0.642 NaN 1 0 3.43241e-23 0.009718 3.93458e-23 36 31 POTEC 388468 broad.mit.edu 37 18 14542642 14542642 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:14542642C>G uc010dln.2 - 1 958 c.504G>C c.(502-504)AAG>AAC p.K168N POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 168 ANK 1. skin(3) 3 GCTTGTCCCTCTTGTTCATGT 0.597 NaN 0 0 0 0.00361 0 102 114 SS18 6760 broad.mit.edu 37 18 23637560 23637560 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:23637560C>G uc002kvm.2 - 4 456 c.378G>C c.(376-378)CAG>CAC p.Q126H SS18_uc002kvn.2_Missense_Mutation_p.Q126H|SS18_uc010xbf.1_Missense_Mutation_p.Q44H|SS18_uc010xbg.1_Missense_Mutation_p.Q74H|SS18_uc010xbh.1_Missense_Mutation_p.Q74H|SS18_uc010xbi.1_Missense_Mutation_p.Q103H|SS18_uc010dlz.1_Missense_Mutation_p.Q74H NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 126 Transcriptional activation. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TACCAGGCATCTGGCCGTTCA 0.522 NaN T SSX1| SSX2 synovial sarcoma 0 0 0 0.011902 0 34 46 SS18 6760 broad.mit.edu 37 18 23637569 23637569 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:23637569C>T uc002kvm.2 - 4 447 c.369G>A c.(367-369)ATG>ATA p.M123I SS18_uc002kvn.2_Missense_Mutation_p.M123I|SS18_uc010xbf.1_Missense_Mutation_p.M41I|SS18_uc010xbg.1_Missense_Mutation_p.M71I|SS18_uc010xbh.1_Missense_Mutation_p.M71I|SS18_uc010xbi.1_Missense_Mutation_p.M100I|SS18_uc010dlz.1_Missense_Mutation_p.M71I NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 123 Transcriptional activation. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TCTGGCCGTTCATCTGGTTCT 0.522 NaN T SSX1| SSX2 synovial sarcoma 0 0 0 0.00361 0 39 49 DSG1 1828 broad.mit.edu 37 18 28926104 28926104 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:28926104G>C uc002kwp.2 + 14 2255 c.2043G>C c.(2041-2043)ATG>ATC p.M681I DSG1_uc010xbp.1_Missense_Mutation_p.M40I NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 681 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GAAATTCTATGAGGGAATGTA 0.418 NaN 0 0 0 0.00361 0 40 44 C18orf10 25941 broad.mit.edu 37 18 34378506 34378506 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:34378506G>C uc002kzw.1 - 6 991 c.563C>G c.(562-564)ACC>AGC p.T188S C18orf10_uc002kzv.1_Missense_Mutation_p.T188S|C18orf10_uc010xci.1_Missense_Mutation_p.T153S|C18orf10_uc002kzx.1_Missense_Mutation_p.T145S|C18orf10_uc002kzy.3_Missense_Mutation_p.T188S NM_015476 NP_056291 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 188 cytoplasm|microtubule skin(1) 1 GGCAGTAAAGGTGTCTGTGAG 0.493 NaN 0 0 0 0.00361 0 62 62 RNF165 494470 broad.mit.edu 37 18 44035973 44035973 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:44035973G>A uc002lcb.1 + 7 904 c.853G>A c.(853-855)GGG>AGG p.G285R RNF165_uc002lby.1_Missense_Mutation_p.G218R|RNF165_uc010dnn.1_Missense_Mutation_p.G81R NM_152470 NP_689683 Q6ZSG1 RN165_HUMAN ring finger protein 165 285 zinc ion binding 0 READ - Rectum adenocarcinoma(1;0.0873) GAAGGATGAGGGGGAGGAGTC 0.507 NaN 0 0 0 0.00278 0 17 20 SERPINB7 8710 broad.mit.edu 37 18 61465923 61465923 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:61465923G>C uc002ljl.2 + 6 636 c.540G>C c.(538-540)AAG>AAC p.K180N SERPINB7_uc002ljm.2_Missense_Mutation_p.K180N|SERPINB7_uc010xet.1_Missense_Mutation_p.K163N|SERPINB7_uc010dqg.2_Missense_Mutation_p.K180N NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 180 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) TCAAAGGCAAGTGGCAATCAG 0.393 NaN 0 0 0 0.010771 0 37 114 RTTN 25914 broad.mit.edu 37 18 67788894 67788894 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:67788894C>T uc002lkp.2 - 26 3494 c.3426G>A c.(3424-3426)CTG>CTA p.L1142L RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L230L NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1142 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TATCTATTAGCAGTTTCTCAT 0.308 NaN 0 0 0 0.004672 0 3 1 TSHZ1 10194 broad.mit.edu 37 18 72999303 72999303 + Silent SNP G G A rs141313878 byFrequency TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:72999303G>A uc002lly.2 + 2 2369 c.1806G>A c.(1804-1806)ACG>ACA p.T602T NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 647 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AGAAGGTCACGGGCAAGGTCA 0.602 NaN 0 0 0 0.003954 0 22 18 ZNF236 7776 broad.mit.edu 37 18 74580691 74580691 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:74580691G>A uc002lmi.2 + 4 606 c.408G>A c.(406-408)CTG>CTA p.L136L ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.L136L NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 136 C2H2-type 4. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGAGTCAGCTGGCCGTGCACA 0.557 NaN 0 0 0 0.00361 0 78 72 MBP 4155 broad.mit.edu 37 18 74700837 74700837 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr18:74700837C>T uc010xfd.1 - 6 977 c.713G>A c.(712-714)GGA>GAA p.G238E MBP_uc002lml.2_Missense_Mutation_p.G131E|MBP_uc002lmn.2_Missense_Mutation_p.G131E|MBP_uc002lmp.2_Missense_Mutation_p.G105E|MBP_uc010xfe.1_Missense_Mutation_p.G105E|MBP_uc010dqz.2_5'Flank NM_001025101 NP_001020272 P02686 MBP_HUMAN Golli-mbp isoform 1 238 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath haematopoietic_and_lymphoid_tissue(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) TCTTACCTTTCCCTGCGACGG 0.522 NaN 0 0 0 0.00361 0 82 104 PRSSL1 400668 broad.mit.edu 37 19 691938 691938 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:691938G>T uc002lpl.1 - 3 332 c.301C>A c.(301-303)CAG>AAG p.Q101K PRSSL1_uc010xfs.1_Missense_Mutation_p.Q100K NM_214710 NP_999875 Q6UWY2 PRS57_HUMAN protease, serine-like 1 precursor 101 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCAAACACCTGCTGGGTGGGC 0.672 NaN 1 0 6.94344e-10 0.006122 7.41079e-10 16 23 DOT1L 84444 broad.mit.edu 37 19 2216762 2216762 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:2216762G>A uc002lvb.3 + 20 2442 c.2406G>A c.(2404-2406)TCG>TCA p.S802S DOT1L_uc002lvc.1_Silent_p.S96S|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.S96S NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 802 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) AGCTGCATTCGAGGTGAGTGC 0.652 NaN 0 0 0 0.008361 0 23 96 CREB3L3 84699 broad.mit.edu 37 19 4168393 4168393 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:4168393A>G uc002lzl.2 + 6 876 c.760A>G c.(760-762)AAG>GAG p.K254E CREB3L3_uc002lzm.2_Missense_Mutation_p.K244E|CREB3L3_uc010xib.1_Missense_Mutation_p.K243E|CREB3L3_uc010xic.1_Intron NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 254 Basic motif.|Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) AATCCGGAACAAGCAGTCGGC 0.413 NaN 0 0 0 0.010504 0 19 16 SH3GL1 6455 broad.mit.edu 37 19 4361711 4361711 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:4361711G>A uc002maj.2 - 10 1099 c.993C>T c.(991-993)GAC>GAT p.D331D SH3GL1_uc002mak.2_Silent_p.D267D|SH3GL1_uc010xig.1_Silent_p.D283D NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 331 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) GCGTGATGACGTCGCCCTCAT 0.662 NaN T MLL AL 0 0 0 0.008291 0 6 120 PLIN4 729359 broad.mit.edu 37 19 4504533 4504533 + Nonsense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:4504533G>A uc002mar.1 - 6 4012 c.4012C>T c.(4012-4014)CAG>TAG p.Q1338* PLIN4_uc010dub.1_Nonsense_Mutation_p.Q362* NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 1338 lipid particle|plasma membrane 0 GGATTGTGCTGTAGGCCCTCC 0.701 NaN 0 0 0 0.010818 0 22 5 DENND1C 79958 broad.mit.edu 37 19 6479898 6479898 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:6479898C>A uc002mfe.2 - 3 190 c.98G>T c.(97-99)CGG>CTG p.R33L DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Intron NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 33 UDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 AGGGAACTGCCGCAGGATGGG 0.642 NaN 1 0 0.00448238 0.004482 0.00456463 6 4 TUBB4 10382 broad.mit.edu 37 19 6501571 6501571 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:6501571C>T uc002mfg.1 - 2 228 c.121G>A c.(121-123)GAC>AAC p.D41N TUBB4_uc002mff.1_5'UTR NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 41 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) AGTTGCAGGTCACTGTCCCCA 0.572 NaN 0 0 0 0.00361 0 127 36 ARHGEF18 23370 broad.mit.edu 37 19 7518383 7518383 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:7518383A>T uc002mgi.2 + 7 1575 c.1322A>T c.(1321-1323)CAG>CTG p.Q441L ARHGEF18_uc010xjm.1_Missense_Mutation_p.Q283L|ARHGEF18_uc002mgh.2_Missense_Mutation_p.Q283L|ARHGEF18_uc002mgj.1_Missense_Mutation_p.Q84L NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 441 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) GACCTGACCCAGGCCTTGAAC 0.507 NaN 0 0 0 0.004656 0 21 88 CD209 30835 broad.mit.edu 37 19 7810492 7810492 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:7810492G>A uc002mht.2 - 4 727 c.660C>T c.(658-660)ACC>ACT p.T220T CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T196T|CD209_uc002mhr.2_Silent_p.T196T|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T220T|CD209_uc002mhq.2_Silent_p.T220T|CD209_uc002mhv.2_Silent_p.T196T|CD209_uc002mhx.2_Silent_p.T176T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 220 Extracellular (Probable).|6.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 CCTTCAGCCGGGTCAGCTCCT 0.567 NaN 0 0 0 0.001168 0 4 108 CD209 30835 broad.mit.edu 37 19 7810561 7810561 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:7810561G>A uc002mht.2 - 4 658 c.591C>T c.(589-591)ACC>ACT p.T197T CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T173T|CD209_uc002mhr.2_Silent_p.T173T|CD209_uc002mhs.2_Silent_p.T173T|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Silent_p.T197T|CD209_uc002mhq.2_Silent_p.T197T|CD209_uc002mhv.2_Silent_p.T173T|CD209_uc002mhx.2_Silent_p.T153T|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 197 Extracellular (Probable).|5.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 CCTTCAGCCGGGTCAGCTCCT 0.567 NaN 0 0 0 0.00308 0 5 107 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:7810766C>T uc002mht.2 - 4 453 c.386G>A c.(385-387)CGG>CAG p.R129Q CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.R105Q|CD209_uc002mhr.2_Missense_Mutation_p.R105Q|CD209_uc002mhs.2_Missense_Mutation_p.R105Q|CD209_uc002mhu.2_Missense_Mutation_p.R129Q|CD209_uc010dvq.2_Missense_Mutation_p.R129Q|CD209_uc002mhq.2_Missense_Mutation_p.R129Q|CD209_uc002mhv.2_Missense_Mutation_p.R105Q|CD209_uc002mhx.2_Missense_Mutation_p.R85Q|CD209_uc002mhw.2_Missense_Mutation_p.R85Q|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 129 Extracellular (Probable).|2.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 AGCCTTCAGCCGGGTCAGCTC 0.567 NaN 0 0 0 0.006214 0 7 214 FBN3 84467 broad.mit.edu 37 19 8182137 8182137 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:8182137C>T uc002mjf.2 - 27 3523 c.3502G>A c.(3502-3504)GTG>ATG p.V1168M NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1168 EGF-like 16; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 ATACAGTGCACGTCACACCCA 0.473 NaN 0 0 0 0.009718 0 31 148 ZNF558 148156 broad.mit.edu 37 19 8922561 8922561 + Missense_Mutation SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:8922561T>G uc002mkn.1 - 6 835 c.605A>C c.(604-606)CAT>CCT p.H202P ZNF558_uc010xkh.1_Missense_Mutation_p.H131P|ZNF558_uc010dwg.1_Missense_Mutation_p.H202P NM_144693 NP_653294 Q96NG5 ZN558_HUMAN zinc finger protein 558 202 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 CTCCCCATTATGGATTCTCTT 0.413 NaN 0 0 0 0.006122 0 14 63 MUC16 94025 broad.mit.edu 37 19 8969284 8969284 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:8969284C>G uc002mkp.2 - 79 43264 c.43060G>C c.(43060-43062)GAG>CAG p.E14354Q MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E1154Q|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACCGCATCCTCAATATTCCTT 0.463 NaN 0 0 0 0.00361 0 46 222 MUC16 94025 broad.mit.edu 37 19 9058783 9058783 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:9058783T>C uc002mkp.2 - 3 28867 c.28663A>G c.(28663-28665)ATA>GTA p.I9555V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9557 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGTCTCTTATAGAGGAAGAG 0.488 NaN 0 0 0 0.00361 0 39 8 MUC16 94025 broad.mit.edu 37 19 9065491 9065491 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:9065491C>G uc002mkp.2 - 3 22159 c.21955G>C c.(21955-21957)GCA>CCA p.A7319P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7321 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GATGATTCTGCCAGGATGGGG 0.453 NaN 0 0 0 0.002836 0 30 10 MUC16 94025 broad.mit.edu 37 19 9086871 9086871 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:9086871G>T uc002mkp.2 - 1 5148 c.4944C>A c.(4942-4944)GCC>GCA p.A1648A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1648 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGGAAGGTGGGCTATGCCCA 0.517 NaN 1 0 3.47496e-60 0.00361 4.12536e-60 118 34 COL5A3 50509 broad.mit.edu 37 19 10084485 10084485 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:10084485C>T uc002mmq.1 - 49 3645 c.3559G>A c.(3559-3561)GGC>AGC p.G1187S NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1187 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCTGGAGTGCCCTGGAGAGAC 0.592 NaN 0 0 0 0.00361 0 93 39 COL5A3 50509 broad.mit.edu 37 19 10116261 10116261 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:10116261G>A uc002mmq.1 - 4 653 c.567C>T c.(565-567)ACC>ACT p.T189T NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 189 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CAAGGTCCTGGGTCCCCAGCA 0.562 NaN 0 0 0 0.001168 0 3 71 PPAN-P2RY11 692312 broad.mit.edu 37 19 10225253 10225253 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:10225253A>G uc002mna.2 + 13 2224 c.2224A>G c.(2224-2226)ATG>GTG p.M742V PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.M322V NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TCTACTCTACATGGCCGCAGT 0.682 NaN 0 0 0 0.004656 0 21 89 PRKCSH 5589 broad.mit.edu 37 19 11558507 11558507 + Splice_Site SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:11558507G>A uc002mrt.2 + 12 1345 c.1009_splice c.e12-1 p.E337_splice PRKCSH_uc002mru.2_Intron|PRKCSH_uc010xlz.1_Splice_Site_p.E344_splice|PRKCSH_uc010dya.2_Splice_Site_p.E119_splice|PRKCSH_uc010dyb.2_Intron NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 CCCTGCCCCAGGAGGCCCCAC 0.667 NaN 0 0 0 0.006214 0 7 4 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:12155673A>C uc002mta.1 - 5 684 c.684T>G c.(682-684)AGT>AGG p.S228R NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 181 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AACTGGGAAAACTGAATGCTT 0.403 NaN 0 0 0 0.00308 0 8 179 MAST1 22983 broad.mit.edu 37 19 12984213 12984213 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:12984213G>T uc002mvm.2 + 25 3467 c.3339G>T c.(3337-3339)TCG>TCT p.S1113S NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1113 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 CGCTGTCGTCGCTGAACCGCT 0.667 NaN 1 0 1.55795e-14 0.012319 1.72072e-14 17 14 FARSA 2193 broad.mit.edu 37 19 13039382 13039382 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:13039382C>A uc002mvs.2 - 6 740 c.692G>T c.(691-693)CGC>CTC p.R231L FARSA_uc002mvt.2_Intron|FARSA_uc010xmv.1_Missense_Mutation_p.R200L|FARSA_uc010dyy.1_Missense_Mutation_p.R152L NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 231 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) GAACTGGGAGCGGACCTTGAG 0.657 NaN 1 0 5.60225e-13 0.009535 6.1266e-13 25 13 NFIX 4784 broad.mit.edu 37 19 13201190 13201190 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:13201190C>A uc010xmx.1 + 10 1557 c.1504C>A c.(1504-1506)CCA>ACA p.P502T NFIX_uc002mwd.2_3'UTR|NFIX_uc002mwe.2_3'UTR|NFIX_uc002mwf.2_3'UTR|NFIX_uc002mwg.1_3'UTR Q14938 NFIX_HUMAN RecName: Full=Nuclear factor 1; 494 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) TCTGAACATCCCACAGCAGTC 0.622 NaN 1 0 2.21704e-12 0.00278 2.41266e-12 17 59 CACNA1A 773 broad.mit.edu 37 19 13325352 13325352 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:13325352G>T uc010dze.2 - 39 6041 c.5805C>A c.(5803-5805)TCC>TCA p.S1935S CACNA1A_uc010xnd.1_Silent_p.S640S|CACNA1A_uc002mwx.3_Silent_p.S640S|CACNA1A_uc010dzc.2_Silent_p.S1460S|CACNA1A_uc002mwy.3_Silent_p.S1934S|CACNA1A_uc002mwv.3_Silent_p.S451S NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1935 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCGTCTTCTGGGACAGATTGG 0.582 NaN 1 0 7.41945e-09 0.005443 7.8186e-09 19 13 LPHN1 22859 broad.mit.edu 37 19 14263685 14263685 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:14263685A>T uc010xnn.1 - 20 3645 c.3349T>A c.(3349-3351)TGC>AGC p.C1117S LPHN1_uc010xno.1_Missense_Mutation_p.C1112S|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 1117 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 CGGATGCAGCAGTAGGAGTGA 0.627 NaN 0 0 0 0.00361 0 41 109 TECR 9524 broad.mit.edu 37 19 14640523 14640523 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:14640523G>A uc002mza.2 + 1 142 c.15G>A c.(13-15)GAG>GAA p.E5E DNAJB1_uc010xnr.1_5'Flank|TECR_uc002mzb.2_5'UTR|TECR_uc010xns.1_5'UTR|TECR_uc002mzc.2_5'UTR|TECR_uc002mzd.2_Silent_p.E5E NM_138501 NP_612510 Q9NZ01 TECR_HUMAN glycoprotein, synaptic 2 5 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity 0 AGCATTACGAGGTAAGAAGCG 0.622 NaN 0 0 0 0.004482 0 5 36 MYO9B 4650 broad.mit.edu 37 19 17312810 17312810 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:17312810A>T uc010eak.2 + 27 4791 c.4639A>T c.(4639-4641)ATC>TTC p.I1547F MYO9B_uc002nfi.2_Missense_Mutation_p.I1547F|MYO9B_uc002nfj.1_Missense_Mutation_p.I1547F|MYO9B_uc002nfl.1_Missense_Mutation_p.I96F NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1547 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 CAGGAGCAACATCAAAACGAT 0.567 NaN 0 0 0 0.003163 0 11 7 ATP13A1 57130 broad.mit.edu 37 19 19756542 19756542 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:19756542C>G uc002nnh.3 - 25 3446 c.3418G>C c.(3418-3420)GTT>CTT p.V1140L GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Missense_Mutation_p.V280L|ATP13A1_uc002nnf.3_Missense_Mutation_p.V508L|ATP13A1_uc002nng.2_Missense_Mutation_p.V1022L NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 1140 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 AGGAGTGAAACTGCCAGACTC 0.637 NaN 0 0 0 0.004672 0 2 2 ZNF626 199777 broad.mit.edu 37 19 20808090 20808090 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:20808090C>T uc002npb.1 - 4 743 c.593G>A c.(592-594)GGG>GAG p.G198E ZNF626_uc002npc.1_Missense_Mutation_p.G122E NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GTAGGGTTTCCCTCCAGTATG 0.363 NaN 0 0 0 0.004672 0 3 15 ZNF493 284443 broad.mit.edu 37 19 21606522 21606522 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:21606522A>G uc002npx.2 + 2 957 c.677A>G c.(676-678)TAT>TGT p.Y226C ZNF493_uc002npw.2_Missense_Mutation_p.Y354C|ZNF493_uc002npy.2_Missense_Mutation_p.Y226C NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 226 C2H2-type 8; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTGAAGAATATTGCAAAGCT 0.358 NaN 0 0 0 0.004672 0 3 41 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:22155896A>C uc002nqp.2 - 5 1789 c.1640T>G c.(1639-1641)ATT>AGT p.I547S ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398 NaN 0 0 0 0.001168 0 3 63 ZNF507 22847 broad.mit.edu 37 19 32845599 32845599 + Missense_Mutation SNP C C G rs139741881 by1000genomes TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:32845599C>G uc002nte.2 + 3 2135 c.1863C>G c.(1861-1863)AGC>AGG p.S621R ZNF507_uc002ntc.2_Missense_Mutation_p.S621R|ZNF507_uc010xrn.1_Missense_Mutation_p.S621R|ZNF507_uc002ntd.2_Missense_Mutation_p.S621R NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) AACCCAACAGCGATACAAGTT 0.488 NaN 0 0 0 0.004007 0 12 165 ZFP14 57677 broad.mit.edu 37 19 36831467 36831467 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:36831467C>T uc002odx.1 - 4 1354 c.1261G>A c.(1261-1263)GAG>AAG p.E421K ZFP14_uc010xtd.1_Missense_Mutation_p.E422K|ZFP14_uc010eex.1_Missense_Mutation_p.E421K NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TAGGGTCTCTCACCAATATGA 0.403 NaN 0 0 0 0.009535 0 27 105 FCGBP 8857 broad.mit.edu 37 19 40354440 40354440 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:40354440C>T uc002omp.3 - 35 16037 c.16029G>A c.(16027-16029)AAG>AAA p.K5343K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5343 VWFD 13. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGACCCCTGCCTTCTGGCGGA 0.572 NaN 0 0 0 0.004656 0 19 1 LTBP4 8425 broad.mit.edu 37 19 41115484 41115484 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:41115484G>A uc002ooh.1 + 13 1676 c.1676G>A c.(1675-1677)GGA>GAA p.G559E LTBP4_uc002oog.1_Missense_Mutation_p.G522E|LTBP4_uc002ooi.1_Missense_Mutation_p.G492E|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 559 Pro-rich.|EGF-like 3.|Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGCGGCCCAGGACGCTGCATT 0.667 NaN 0 0 0 0.00361 0 48 2 CEACAM21 90273 broad.mit.edu 37 19 42092192 42092192 + Splice_Site SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:42092192G>A uc002ore.3 + 6 947 c.851_splice c.e6-1 p.G284_splice CEACAM21_uc002orc.1_Splice_Site|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.3_Splice_Site_p.G283_splice NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion integral to membrane ovary(1) 1 TCTGTCCCCAGGCCATGGACC 0.587 NaN 0 0 0 0.010504 0 15 1 PRKD2 25865 broad.mit.edu 37 19 47178362 47178362 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:47178362G>C uc002pfh.2 - 18 2694 c.2352C>G c.(2350-2352)ATC>ATG p.I784M PRKD2_uc002pfd.2_Missense_Mutation_p.I158M|PRKD2_uc010eks.2_Missense_Mutation_p.I187M|PRKD2_uc010ekt.2_Missense_Mutation_p.I51M|PRKD2_uc002pfe.2_Missense_Mutation_p.I314M|PRKD2_uc002pff.2_Missense_Mutation_p.I304M|PRKD2_uc002pfg.2_Missense_Mutation_p.I627M|PRKD2_uc002pfi.2_Missense_Mutation_p.I784M|PRKD2_uc002pfj.2_Missense_Mutation_p.I784M|PRKD2_uc010xye.1_Missense_Mutation_p.I794M|PRKD2_uc002pfk.2_Missense_Mutation_p.I627M NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 784 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GCAGGTTGTTGATGAGGTCAA 0.572 NaN 0 0 0 0.003163 0 13 0 IL4I1 259307 broad.mit.edu 37 19 50393824 50393824 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:50393824C>A uc002pqt.1 - 8 885 c.807G>T c.(805-807)CTG>CTT p.L269L IL4I1_uc002pqv.1_Silent_p.L278L|IL4I1_uc010eno.1_Silent_p.L277L|IL4I1_uc002pqw.1_Silent_p.L277L|IL4I1_uc002pqu.1_Silent_p.L291L NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 isoform 1 precursor 269 lysosome L-amino-acid oxidase activity lung(1)|ovary(1)|prostate(1) 3 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) GCGCGCGCGGCAGCAGGTCCC 0.721 NaN 1 0 9.95505e-16 0.002299 1.10686e-15 14 1 SYT3 84258 broad.mit.edu 37 19 51140567 51140567 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:51140567C>T uc002pst.2 - 1 736 c.102G>A c.(100-102)CAG>CAA p.Q34Q SYT3_uc002psv.2_Silent_p.Q34Q|SYT3_uc010ycd.1_Silent_p.Q34Q NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 34 Vesicular (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) CATTGAACTCCTGGCACCTGT 0.627 NaN 0 0 0 0.00361 0 130 3 SHANK1 50944 broad.mit.edu 37 19 51205873 51205873 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:51205873C>T uc002psx.1 - 11 1617 c.1598G>A c.(1597-1599)GGC>GAC p.G533D NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 533 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GCCCCCTGAGCCCCCCGTGCC 0.716 NaN 0 0 0 0.004482 0 6 0 ACPT 93650 broad.mit.edu 37 19 51298162 51298162 + Missense_Mutation SNP C C T rs140557537 byFrequency TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:51298162C>T uc002pta.1 + 10 1106 c.1106C>T c.(1105-1107)GCC>GTC p.A369V NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN testicular acid phosphatase precursor 369 Extracellular (Potential). integral to membrane acid phosphatase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) ACTGCCCCGGCCCGGCCTCCC 0.692 NaN 0 0 0 0.00361 0 241 3 ZNF528 84436 broad.mit.edu 37 19 52918824 52918824 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:52918824C>T uc002pzh.2 + 7 1145 c.719C>T c.(718-720)CCT>CTT p.P240L ZNF528_uc002pzi.2_Missense_Mutation_p.P7L NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) GGAGAGAAGCCTTACAAATGT 0.388 NaN 0 0 0 0.010729 0 9 55 ZNF578 147660 broad.mit.edu 37 19 53014565 53014565 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:53014565G>A uc002pzp.3 + 6 1175 c.931G>A c.(931-933)GGT>AGT p.G311S NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATGTCACACTGGTGAGAAACC 0.418 NaN 0 0 0 0.004672 0 3 126 ZNF578 147660 broad.mit.edu 37 19 53014626 53014626 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:53014626C>G uc002pzp.3 + 6 1236 c.992C>G c.(991-993)ACA>AGA p.T331R NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 106 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TCATCCCTTACATGCCATCAT 0.423 NaN 0 0 0 0.009096 0 3 132 ZNF808 388558 broad.mit.edu 37 19 53057047 53057047 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:53057047G>C uc010epq.1 + 5 1055 c.878G>C c.(877-879)GGA>GCA p.G293A ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 293 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AAAGAGTGTGGAAAGTCCTTC 0.408 NaN 0 0 0 0.001168 0 4 180 VN1R4 317703 broad.mit.edu 37 19 53770252 53770252 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:53770252G>T uc010ydu.1 - 1 667 c.667C>A c.(667-669)CCC>ACC p.P223T NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 223 Cytoplasmic (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) GAGGCTCTGGGGGAGAGATTG 0.537 NaN HNSCC(26;0.072) 1 0 7.92952e-12 0.003954 8.58709e-12 21 2 ZNF761 388561 broad.mit.edu 37 19 53958879 53958879 + Missense_Mutation SNP A A G rs147132093 TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:53958879A>G uc010eqp.2 + 7 1576 c.1118A>G c.(1117-1119)CAT>CGT p.H373R ZNF761_uc010ydy.1_Missense_Mutation_p.H319R|ZNF761_uc002qbt.1_Missense_Mutation_p.H319R NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 373 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ACATGCCATCATAGACTTCAT 0.428 NaN 0 0 0 0.001368 0 10 288 LILRA4 23547 broad.mit.edu 37 19 54848849 54848849 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:54848849C>T uc002qfj.2 - 5 831 c.774G>A c.(772-774)GAG>GAA p.E258E LILRA4_uc002qfi.2_Silent_p.E192E NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 258 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CATCGGCCCCCTCCTTGTACA 0.677 NaN 0 0 0 0.00623 0 34 1 PTPRH 5794 broad.mit.edu 37 19 55718252 55718252 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:55718252G>T uc002qjq.2 - 3 230 c.157C>A c.(157-159)CCC>ACC p.P53T PTPRH_uc010esv.2_Missense_Mutation_p.P53T|PTPRH_uc002qjs.2_Missense_Mutation_p.P60T NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 53 Extracellular (Potential).|Fibronectin type-III 1. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AGGCCATCGGGGACCTCCCAG 0.567 NaN 1 0 5.12918e-33 0.00361 6.02475e-33 53 2 ZNF776 284309 broad.mit.edu 37 19 58265844 58265844 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:58265844A>G uc002qpx.2 + 3 1569 c.1346A>G c.(1345-1347)CAA>CGA p.Q449R ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.Q449R NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 449 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) AGTCTCATTCAACATCAGCAG 0.448 NaN 0 0 0 0.000602 0 4 133 ZNF776 284309 broad.mit.edu 37 19 58265857 58265857 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:58265857C>T uc002qpx.2 + 3 1582 c.1359C>T c.(1357-1359)ATC>ATT p.I453I ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I453I NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 453 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) ATCAGCAGATCCACTCTGGAG 0.453 NaN 0 0 0 0.000602 0 4 121 ROCK2 9475 broad.mit.edu 37 2 11333916 11333916 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:11333916T>C uc002rbd.1 - 30 4125 c.3676A>G c.(3676-3678)AGG>GGG p.R1226G NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 1226 PH. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TGGAATATCCTTGGAATTTCT 0.299 NaN 0 0 0 0.00333 0 15 30 ITSN2 50618 broad.mit.edu 37 2 24535214 24535214 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:24535214C>G uc002rfe.2 - 5 477 c.219G>C c.(217-219)AAG>AAC p.K73N ITSN2_uc002rff.2_Missense_Mutation_p.K73N|ITSN2_uc002rfg.2_Missense_Mutation_p.K73N|ITSN2_uc010eyd.2_Missense_Mutation_p.K73N NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 73 EH 1.|Potential.|EF-hand 1. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGATCCATCTTCCCATCCT 0.453 NaN 0 0 0 0.00361 0 35 137 EPT1 85465 broad.mit.edu 37 2 26587758 26587758 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:26587758T>A uc010ykz.1 + 3 332 c.185T>A c.(184-186)GTA>GAA p.V62E EPT1_uc010eyl.1_RNA NM_033505 NP_277040 Q9C0D9 EPT1_HUMAN selenoprotein I 62 Helical; (Potential). phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding 0 CTGCTGGTCGTATTCAATTTT 0.303 NaN 0 0 0 0.00623 0 26 17 CAD 790 broad.mit.edu 37 2 27448663 27448663 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:27448663A>G uc002rji.2 + 12 1873 c.1711A>G c.(1711-1713)AGG>GGG p.R571G CAD_uc010eyw.2_Missense_Mutation_p.R571G NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 571 CPSase (Carbamoyl-phosphate synthase).|CPSase A.|ATP-grasp 1. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TGCCTCTAACAGGGAGGAGCT 0.597 NaN 0 0 0 0.00361 0 42 18 SLC30A3 7781 broad.mit.edu 37 2 27480167 27480167 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:27480167C>T uc002rjk.2 - 5 818 c.632G>A c.(631-633)GGA>GAA p.G211E SLC30A3_uc002rjj.2_Missense_Mutation_p.E57K|SLC30A3_uc010ylh.1_Missense_Mutation_p.G206E NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 211 Cytoplasmic (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATACTCTGCTCCCCTAGACCC 0.677 NaN 0 0 0 0.001168 0 4 11 ZNF512 84450 broad.mit.edu 37 2 27821096 27821096 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:27821096G>A uc002rla.2 + 3 339 c.252G>A c.(250-252)AAG>AAA p.K84K ZNF512_uc010ylv.1_Silent_p.K5K|ZNF512_uc010ylw.1_Silent_p.K83K|ZNF512_uc002rlb.2_Silent_p.K5K|ZNF512_uc010ylx.1_Silent_p.K5K|ZNF512_uc002rlc.2_Silent_p.K5K|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Silent_p.K5K NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GAAGAATCAAGCCAGCTGCTA 0.408 NaN 0 0 0 0.002299 0 16 68 LTBP1 4052 broad.mit.edu 37 2 33589420 33589420 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:33589420A>G uc002ros.2 + 30 4540 c.4540A>G c.(4540-4542)AAC>GAC p.N1514D LTBP1_uc002rot.2_Missense_Mutation_p.N1188D|LTBP1_uc002rou.2_Missense_Mutation_p.N1187D|LTBP1_uc002rov.2_Missense_Mutation_p.N1134D|LTBP1_uc010ymz.1_Missense_Mutation_p.N1145D|LTBP1_uc010yna.1_Missense_Mutation_p.N1092D|LTBP1_uc010ynb.1_Missense_Mutation_p.N411D NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1513 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGCTGAGTCAAACGGTATGTT 0.398 NaN 0 0 0 0.00499 0 14 7 EML4 27436 broad.mit.edu 37 2 42552634 42552634 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:42552634G>C uc002rsi.2 + 20 2444 c.2182G>C c.(2182-2184)GAC>CAC p.D728H EML4_uc010fap.2_Missense_Mutation_p.D670H|EML4_uc002rsj.2_Missense_Mutation_p.D417H|EML4_uc010faq.2_Missense_Mutation_p.D73H|EML4_uc010ynv.1_5'UTR NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 728 WD 8. microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 CACACACCTTGACTGGTCCCC 0.313 NaN T ALK NSCLC 0 0 0 0.000602 0 3 10 C2orf63 130162 broad.mit.edu 37 2 55444968 55444968 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:55444968C>G uc002ryi.2 - 4 690 c.344G>C c.(343-345)AGA>ACA p.R115T C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_5'UTR NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 115 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) TTGGATTGTTCTTTTCCTGTA 0.358 NaN 0 0 0 0.001168 0 4 15 USP34 9736 broad.mit.edu 37 2 61416073 61416073 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:61416073C>T uc002sbe.2 - 79 10027 c.10005G>A c.(10003-10005)GAG>GAA p.E3335E USP34_uc002sbd.2_Silent_p.E137E NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3335 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TGGCTTCTTGCTCTTGGAGTG 0.413 NaN 0 0 0 0.012213 0 28 21 ATP6V1B1 525 broad.mit.edu 37 2 71191936 71191936 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:71191936C>A uc002shj.2 + 13 1406 c.1319C>A c.(1318-1320)TCT>TAT p.S440Y ATP6V1B1_uc010fdv.2_Missense_Mutation_p.S423Y|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.S398Y NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 440 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 GCGCTCACCTCTGAGGACCTG 0.597 NaN OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 8.16721e-17 0.010818 9.15717e-17 25 24 LRRTM4 80059 broad.mit.edu 37 2 77745525 77745525 + Silent SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:77745525A>T uc002snr.2 - 3 1885 c.1470T>A c.(1468-1470)CCT>CCA p.P490P LRRTM4_uc002snq.2_Silent_p.P490P|LRRTM4_uc002sns.2_Silent_p.P490P|LRRTM4_uc002snt.2_Silent_p.P491P NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 490 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CAGAGTTTGTAGGCTTGTAGT 0.468 NaN 0 0 0 0.003755 0 27 15 LRRTM4 80059 broad.mit.edu 37 2 77746266 77746266 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:77746266G>A uc002snr.2 - 3 1144 c.729C>T c.(727-729)TCC>TCT p.S243S LRRTM4_uc002snq.2_Silent_p.S243S|LRRTM4_uc002sns.2_Silent_p.S243S|LRRTM4_uc002snt.2_Silent_p.S244S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 243 LRR 8.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CTTGGCTAATGGAGCGAATCC 0.448 NaN 0 0 0 0.004007 0 14 25 SMYD1 150572 broad.mit.edu 37 2 88405960 88405960 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:88405960C>A uc002ssr.2 + 8 1100 c.1098C>A c.(1096-1098)GCC>GCA p.A366A SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.A62A NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 ACCTCCAGGCCTTTGAGGAGG 0.522 NaN 1 0 8.16721e-17 0.010818 9.15717e-17 26 39 CNGA3 1261 broad.mit.edu 37 2 98996644 98996644 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:98996644G>A uc002syt.2 + 4 639 c.222G>A c.(220-222)TCG>TCA p.S74S CNGA3_uc002syu.2_Silent_p.S74S|CNGA3_uc010fij.2_Silent_p.S78S NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 74 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 CCAGGCTGTCGCGCCTCATCT 0.527 NaN 0 0 0 0.010504 0 14 20 BUB1 699 broad.mit.edu 37 2 111423892 111423892 + Missense_Mutation SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:111423892T>G uc002tgc.2 - 9 1017 c.905A>C c.(904-906)CAG>CCG p.Q302P BUB1_uc010yxh.1_Missense_Mutation_p.Q282P|BUB1_uc010fkb.2_Missense_Mutation_p.Q302P|BUB1_uc002tgd.2_Missense_Mutation_p.Q302P NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 302 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) CTCCACCACCTGATGCAACTT 0.443 NaN 0 0 0 0.008871 0 18 19 SLC20A1 6574 broad.mit.edu 37 2 113420544 113420544 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:113420544C>G uc002tib.2 + 11 2428 c.1982C>G c.(1981-1983)TCT>TGT p.S661C NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 661 Helical; (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 GTCCCCATTTCTGGAGTTATC 0.458 NaN 0 0 0 0.00361 0 73 59 PTPN4 5775 broad.mit.edu 37 2 120639722 120639722 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:120639722C>G uc002tmf.1 + 7 1234 c.463C>G c.(463-465)CAG>GAG p.Q155E PTPN4_uc010flj.1_5'UTR NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 155 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) ATTTGCTGTTCAGTGTAAGTA 0.358 NaN 0 0 0 0.00361 0 58 44 GLI2 2736 broad.mit.edu 37 2 121747231 121747231 + Silent SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:121747231T>C uc010flp.2 + 13 3771 c.3741T>C c.(3739-3741)TAT>TAC p.Y1247Y GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.Y919Y|GLI2_uc002tmu.3_Silent_p.Y902Y NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1247 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) ATGCCTGCTATGGCCAAGTCC 0.622 NaN 0 0 0 0.010771 0 37 24 POTEF 728378 broad.mit.edu 37 2 130872849 130872849 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:130872849G>A uc010fmh.2 - 4 974 c.574C>T c.(574-576)CTG>TTG p.L192L NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 192 ANK 1. cell cortex ATP binding skin(3)|ovary(2) 5 CTGTCCAGCAGGAGTTTTACT 0.428 NaN 0 0 0 0.00361 0 26 81 RIF1 55183 broad.mit.edu 37 2 152330584 152330584 + Nonsense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:152330584C>G uc002txm.2 + 35 7332 c.7202C>G c.(7201-7203)TCA>TGA p.S2401* RIF1_uc002txl.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txn.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txo.2_Nonsense_Mutation_p.S2375*|RIF1_uc002txp.2_RNA|uc010fnw.1_5'Flank NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 2401 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) AGACTTGTCTCAGGTATATTT 0.299 NaN 0 0 0 0.007835 0 32 26 BAZ2B 29994 broad.mit.edu 37 2 160252303 160252303 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:160252303T>C uc002uao.2 - 20 3404 c.3052A>G c.(3052-3054)ATG>GTG p.M1018V BAZ2B_uc002uap.2_Missense_Mutation_p.M982V NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1018 Lys-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CGAGCTTCCATAGCTTTCATA 0.338 NaN 0 0 0 0.00308 0 5 12 FAP 2191 broad.mit.edu 37 2 163051256 163051256 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:163051256G>A uc002ucd.2 - 17 1613 c.1405C>T c.(1405-1407)CCA>TCA p.P469S FAP_uc010fpc.2_Missense_Mutation_p.P18S|FAP_uc010zct.1_Missense_Mutation_p.P444S|FAP_uc010fpd.2_5'UTR NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 469 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 GGGATGCCTGGGCCTGTGGGC 0.438 NaN 0 0 0 0.007413 0 14 49 GCA 25801 broad.mit.edu 37 2 163213345 163213345 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:163213345C>T uc002ucg.2 + 5 560 c.384C>T c.(382-384)TTC>TTT p.F128F GCA_uc010zcu.1_Silent_p.F109F NM_012198 NP_036330 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 128 EF-hand 3. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity 0 AGGAAAACTTCATGACTGTTG 0.368 NaN 0 0 0 0.00361 0 46 22 SCN2A 6326 broad.mit.edu 37 2 166245291 166245291 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:166245291G>C uc002udc.2 + 27 5265 c.4975G>C c.(4975-4977)GCG>CCG p.A1659P SCN2A_uc002udd.2_Missense_Mutation_p.A1659P|SCN2A_uc002ude.2_Missense_Mutation_p.A1659P NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1659 IV. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GTCCCTTCCTGCGTTGTTTAA 0.498 NaN 0 0 0 0.001855 0 13 94 SCN2A 6326 broad.mit.edu 37 2 166246148 166246148 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:166246148C>A uc002udc.2 + 27 6122 c.5832C>A c.(5830-5832)CCC>CCA p.P1944P SCN2A_uc002udd.2_Silent_p.P1944P|SCN2A_uc002ude.2_Silent_p.P1944P NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1944 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ATGGAACACCCATCAAAGAAG 0.403 NaN 1 0 5.2432e-18 0.00361 5.9186e-18 35 13 SCN1A 6323 broad.mit.edu 37 2 166859238 166859238 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:166859238G>T uc010zcz.1 - 21 4013 c.3995C>A c.(3994-3996)GCA>GAA p.A1332E SCN1A_uc002udo.3_Missense_Mutation_p.A1212E|SCN1A_uc010fpk.2_Missense_Mutation_p.A1184E NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1343 III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGATGGAATTGCTCCTAAAAG 0.348 NaN 1 0 5.73237e-09 0.00623 6.05993e-09 28 14 STK39 27347 broad.mit.edu 37 2 169020276 169020276 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:169020276T>C uc002uea.2 - 4 705 c.545A>G c.(544-546)TAT>TGT p.Y182C NM_013233 NP_037365 Q9UEW8 STK39_HUMAN serine threonine kinase 39 (STE20/SPS1 homolog, 182 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 TCTGTGTAGATAGTCTAAGCC 0.378 NaN 0 0 0 0.009096 0 4 35 LRP2 4036 broad.mit.edu 37 2 170060728 170060728 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:170060728T>A uc002ues.2 - 42 7982 c.7769A>T c.(7768-7770)AAT>ATT p.N2590I NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2590 LDL-receptor class B 28.|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) AACGGCTGCATTGACAATGAC 0.418 NaN 0 0 0 0.00361 0 167 101 PDE11A 50940 broad.mit.edu 37 2 178684974 178684974 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:178684974T>C uc002ulq.2 - 7 1867 c.1549A>G c.(1549-1551)ATT>GTT p.I517V PDE11A_uc002ulp.2_Missense_Mutation_p.I73V|PDE11A_uc002ulr.2_Missense_Mutation_p.I267V|PDE11A_uc002uls.1_Missense_Mutation_p.I159V|PDE11A_uc002ult.1_Missense_Mutation_p.I267V|PDE11A_uc002ulu.1_Missense_Mutation_p.I159V NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 517 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CTATTCCAAATAGGGACACAA 0.294 NaN Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 0 0 0 0.010771 0 29 16 TTN 7273 broad.mit.edu 37 2 179396043 179396043 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:179396043G>A uc010zfg.1 - 307 97819 c.97595C>T c.(97594-97596)GCA>GTA p.A32532V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A26227V|TTN_uc010zfi.1_Missense_Mutation_p.A26160V|TTN_uc010zfj.1_Missense_Mutation_p.A26035V|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33459 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTGCAGATGCAGAGTGTTC 0.408 NaN 0 0 0 0.004878 0 32 10 TTN 7273 broad.mit.edu 37 2 179428076 179428076 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:179428076T>A uc010zfg.1 - 275 75303 c.75079A>T c.(75079-75081)ATT>TTT p.I25027F uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I18722F|TTN_uc010zfi.1_Missense_Mutation_p.I18655F|TTN_uc010zfj.1_Missense_Mutation_p.I18530F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25954 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATCATAAATTGGCTTACTC 0.507 NaN 0 0 0 0.001368 0 10 22 TTN 7273 broad.mit.edu 37 2 179431369 179431369 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:179431369A>G uc010zfg.1 - 275 72010 c.71786T>C c.(71785-71787)GTA>GCA p.V23929A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17624A|TTN_uc010zfi.1_Missense_Mutation_p.V17557A|TTN_uc010zfj.1_Missense_Mutation_p.V17432A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24856 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTGGTGTCTACAATGTGTGC 0.443 NaN 0 0 0 0.00361 0 57 165 TTN 7273 broad.mit.edu 37 2 179440159 179440159 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:179440159T>C uc010zfg.1 - 275 63220 c.62996A>G c.(62995-62997)TAT>TGT p.Y20999C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y14694C|TTN_uc010zfi.1_Missense_Mutation_p.Y14627C|TTN_uc010zfj.1_Missense_Mutation_p.Y14502C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21926 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCAATCACATAGCCAGTGAT 0.493 NaN 0 0 0 0.002299 0 20 40 TTN 7273 broad.mit.edu 37 2 179621183 179621183 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:179621183C>T uc010zfh.1 - 44 10731 c.10507G>A c.(10507-10509)GGT>AGT p.G3503S TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3517 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCGTGTCACCGCACTTTACA 0.453 NaN 0 0 0 0.00333 0 22 8 HECW2 57520 broad.mit.edu 37 2 197183282 197183282 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:197183282T>A uc002utm.1 - 9 2515 c.2332A>T c.(2332-2334)ACT>TCT p.T778S HECW2_uc002utl.1_Missense_Mutation_p.T422S NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 778 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CTACCTCCAGTAGCGCCCTCC 0.592 NaN 0 0 0 0.007291 0 24 19 HSPE1 3336 broad.mit.edu 37 2 198367982 198367982 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:198367982G>A uc002uul.2 + 4 748 c.308G>A c.(307-309)TGA>TAA p.*103* HSPD1_uc002uuk.2_5'Flank NM_002157 NP_002148 P61604 CH10_HUMAN heat shock 10kDa protein 1 103 activation of caspase activity|protein folding|response to unfolded protein mitochondrial matrix ATP binding|chaperone binding|unfolded protein binding 0 Epithelial(96;0.225) TACGTAGACTGAAATAAGTCA 0.328 NaN 0 0 0 0.00361 0 38 9 ADAM23 8745 broad.mit.edu 37 2 207459510 207459510 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:207459510G>C uc002vbq.2 + 23 2351 c.2128G>C c.(2128-2130)GAT>CAT p.D710H ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 710 Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CTATGTAGAAGATGGAACGCC 0.428 NaN 0 0 0 0.00361 0 42 25 USP37 57695 broad.mit.edu 37 2 219324581 219324581 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:219324581C>G uc002vie.2 - 23 3028 c.2575G>C c.(2575-2577)GGA>CGA p.G859R USP37_uc010fvs.1_Missense_Mutation_p.G859R|USP37_uc010zkf.1_Missense_Mutation_p.G859R|USP37_uc002vif.2_Missense_Mutation_p.G859R|USP37_uc002vig.2_Missense_Mutation_p.G765R NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 859 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TCCTCATTTCCAGAGTCCTCA 0.358 NaN 0 0 0 0.00361 0 60 3 PAX3 5077 broad.mit.edu 37 2 223086063 223086063 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:223086063C>T uc010fwo.2 - 6 1202 c.836G>A c.(835-837)GGG>GAG p.G279E PAX3_uc002vmt.1_Missense_Mutation_p.G279E|PAX3_uc002vmy.1_Missense_Mutation_p.G278E|PAX3_uc002vmv.1_Missense_Mutation_p.G279E|PAX3_uc002vmw.1_Missense_Mutation_p.G279E|PAX3_uc002vmx.1_Missense_Mutation_p.G279E NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 279 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGATTGGCCCCAGCTTGCTT 0.473 NaN T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 0 0 0 0.00361 0 74 5 WDR69 164781 broad.mit.edu 37 2 228758558 228758558 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:228758558C>T uc002vpn.1 + 5 444 c.365C>T c.(364-366)GCG>GTG p.A122V WDR69_uc010zlw.1_Missense_Mutation_p.A107V|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 122 WD 1. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) TGGGACACTGCGTCTGGAGAG 0.433 NaN 0 0 0 0.00308 0 7 2 PSMD1 5707 broad.mit.edu 37 2 231927368 231927368 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr2:231927368G>A uc002vrn.1 + 4 414 c.283G>A c.(283-285)GAA>AAA p.E95K PSMD1_uc002vrm.1_Missense_Mutation_p.E95K|PSMD1_uc010fxu.1_Intron NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 95 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TGATAACTCTGAATATGTGGA 0.398 NaN 0 0 0 0.003954 0 20 3 HSPA12B 116835 broad.mit.edu 37 20 3730479 3730479 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:3730479C>T uc002wjd.2 + 10 1123 c.1020C>T c.(1018-1020)CTC>CTT p.L340L HSPA12B_uc010zqi.1_Silent_p.L339L|HSPA12B_uc002wje.2_Silent_p.L253L|HSPA12B_uc010zqj.1_Silent_p.L174L NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 340 ATP binding 0 ATGGCACCCTCAAGGAGCTCT 0.746 NaN 0 0 0 0.009096 0 4 13 SPTLC3 55304 broad.mit.edu 37 20 13052966 13052966 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:13052966C>G uc002wod.1 + 3 655 c.366C>G c.(364-366)ATC>ATG p.I122M NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 122 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) ACATGCGAATCAGAGACAACT 0.433 NaN 0 0 0 0.00361 0 34 83 ID1 3397 broad.mit.edu 37 20 30193268 30193268 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:30193268C>G uc002wwg.1 + 1 177 c.78C>G c.(76-78)AGC>AGG p.S26R ID1_uc002wwh.1_Missense_Mutation_p.S26R|hsa-mir-3193|MI0014238_5'Flank NM_002165 NP_002156 P41134 ID1_HUMAN inhibitor of DNA binding 1 isoform a 26 angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway cytoplasm protein binding ovary(1) 1 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) AGACAGCGAGCGGTGCGGGCG 0.607 NaN 0 0 0 0.001168 0 6 15 CEP250 11190 broad.mit.edu 37 20 34057721 34057721 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:34057721C>G uc002xcm.2 + 11 1529 c.858C>G c.(856-858)ACC>ACG p.T286T CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Silent_p.T93T NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 286 Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) TTAGGGTGACCGAGCTCTCTG 0.418 NaN 0 0 0 0.001168 0 5 27 FITM2 128486 broad.mit.edu 37 20 42935833 42935833 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:42935833G>C uc002xlr.1 - 2 322 c.221C>G c.(220-222)CCT>CGT p.P74R NM_001080472 NP_001073941 Q8N6M3 FITM2_HUMAN fat storage-inducing transmembrane protein 2 74 Helical; (Potential). cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process integral to endoplasmic reticulum membrane skin(2) 2 GGCAATGAAAGGCAGAAGGAG 0.577 NaN 0 0 0 0.005443 0 24 8 TTPAL 79183 broad.mit.edu 37 20 43115337 43115337 + Silent SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:43115337A>T uc002xmc.1 + 5 865 c.741A>T c.(739-741)ATA>ATT p.I247I TTPAL_uc002xmd.1_Silent_p.I247I|TTPAL_uc010ggr.1_Silent_p.I60I NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 247 CRAL-TRIO. intracellular transporter activity breast(1) 1 AGGAGAAAATAGCAAACAGAG 0.348 NaN 0 0 0 0.000602 0 5 8 ZSWIM1 90204 broad.mit.edu 37 20 44511647 44511647 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:44511647G>T uc010ghi.2 + 2 529 c.416G>T c.(415-417)TGG>TTG p.W139L ZSWIM1_uc010zxh.1_Missense_Mutation_p.W12L NM_080603 NP_542170 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 139 zinc ion binding skin(1) 1 Myeloproliferative disorder(115;0.028) AATCCAGCATGGGAGAGAGTC 0.527 NaN 1 0 7.92952e-12 0.003954 8.58709e-12 23 69 CD40 958 broad.mit.edu 37 20 44751393 44751393 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:44751393T>C uc002xrg.1 + 4 478 c.401T>C c.(400-402)ATT>ACT p.I134T CD40_uc002xrf.1_Missense_Mutation_p.I134T|CD40_uc002xrh.1_Missense_Mutation_p.I134T|CD40_uc002xri.1_Missense_Mutation_p.I134T|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA NM_001250 NP_001241 P25942 TNR5_HUMAN CD40 antigen isoform 1 precursor 134 Extracellular (Potential).|TNFR-Cys 3. B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity lung(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) GTCAAGCAGATTGGTAAGTGG 0.597 NaN Immune_Deficiency_with_Hyper-IgM 0 0 0 0.00361 0 57 22 ZNF334 55713 broad.mit.edu 37 20 45130608 45130608 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:45130608C>A uc002xsc.2 - 5 1554 c.1370G>T c.(1369-1371)GGA>GTA p.G457V ZNF334_uc002xsa.2_Missense_Mutation_p.G480V|ZNF334_uc002xsb.2_Missense_Mutation_p.G419V|ZNF334_uc002xsd.2_Missense_Mutation_p.G419V|ZNF334_uc010ghl.2_Missense_Mutation_p.G456V NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) AGACTTCTTTCCTCTATGAGT 0.388 NaN 1 0 1.3612e-06 0.003163 1.41429e-06 13 63 TSHZ2 128553 broad.mit.edu 37 20 51873094 51873094 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:51873094G>A uc002xwo.2 + 2 4053 c.3097G>A c.(3097-3099)GAA>AAA p.E1033K NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 1033 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AGACGTGGATGAAGAATAGCT 0.493 NaN 0 0 0 0.00361 0 85 41 CYP24A1 1591 broad.mit.edu 37 20 52788149 52788149 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:52788149C>A uc002xwv.2 - 3 908 c.510G>T c.(508-510)GGG>GGT p.G170G CYP24A1_uc002xwu.1_Silent_p.G28G|CYP24A1_uc002xww.2_Silent_p.G170G NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 170 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TCATCACTTCCCCTGGTTTCA 0.507 NaN 1 0 2.80507e-11 0.012213 3.03276e-11 29 153 NTSR1 4923 broad.mit.edu 37 20 61341220 61341220 + Missense_Mutation SNP G G A rs143560266 byFrequency TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr20:61341220G>A uc002ydf.2 + 1 1032 c.661G>A c.(661-663)GGC>AGC p.G221S NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 221 Extracellular (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) GCACGCCGGCGGCCTGGTGTG 0.672 NaN 0 0 0 0.010771 0 30 15 TPTE 7179 broad.mit.edu 37 21 10951423 10951423 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr21:10951423A>T uc002yip.1 - 10 657 c.289T>A c.(289-291)TTT>ATT p.F97I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.F79I|TPTE_uc002yir.1_Missense_Mutation_p.F59I|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 97 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAAACTCCAAATAGTCTAaaa 0.333 NaN 0 0 0 0.009096 0 3 42 KRTAP22-1 337979 broad.mit.edu 37 21 31973522 31973522 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr21:31973522G>A uc011add.1 + 1 83 c.83G>A c.(82-84)GGC>GAC p.G28D KRTAP6-2_uc011adc.1_5'Flank NM_181620 NP_853651 Q3MIV0 KR221_HUMAN keratin associated protein 22-1 28 intermediate filament 0 GGTCTTAGCGGCTATGGCTAT 0.488 NaN 0 0 0 0.00361 0 111 9 KRTAP8-1 337879 broad.mit.edu 37 21 32185477 32185477 + Missense_Mutation SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr21:32185477T>G uc002you.2 - 1 94 c.62A>C c.(61-63)TAC>TCC p.Y21S NM_175857 NP_787053 Q8IUC2 KRA81_HUMAN keratin associated protein 8-1 21 12 X 2 AA repeats of G-[YCGS]. intermediate filament 0 TCCCAGCGGGTAGCCATAGCT 0.602 NaN 0 0 0 0.00874 0 36 2 TIAM1 7074 broad.mit.edu 37 21 32617923 32617924 + Missense_Mutation DNP TG TG AA TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr21:32617923_32617924TG>AA uc002yow.1 - 7 1936_1937 c.1464_1465CA>TT c.(1462-1467)AACAGC>AATTGC p.S489C TIAM1_uc011adk.1_Missense_Mutation_p.S489C|TIAM1_uc011adl.1_Missense_Mutation_p.S489C|TIAM1_uc002yox.1_Missense_Mutation_p.S97C NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 489 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TTGGGGATGCTGTTGTGGTCTA 0.545 NaN 0 0 0 0.004672 0 18 3 DSCAM 1826 broad.mit.edu 37 21 41385013 41385013 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr21:41385013C>T uc002yyq.1 - 33 6439 c.5987G>A c.(5986-5988)CGG>CAG p.R1996Q DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1996 Cytoplasmic (Potential). HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAAATGGCCCCGGGAGTCGAG 0.517 NaN 0 0 0 0.003271 0 26 2 DSCAM 1826 broad.mit.edu 37 21 41416166 41416166 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr21:41416166G>T uc002yyq.1 - 31 5674 c.5222C>A c.(5221-5223)ACA>AAA p.T1741K DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1741 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTTTCTCGCTGTGGGCCCAGC 0.602 NaN 1 0 1.01871e-10 0.008871 1.09784e-10 16 1 KRTAP10-4 386672 broad.mit.edu 37 21 45994247 45994247 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr21:45994247C>T uc002zfk.1 + 1 642 c.612C>T c.(610-612)TGC>TGT p.C204C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 204 36 X 5 AA repeats of C-C-X(3). keratin filament 0 TCAGCTCCTGCACGCCCTCGT 0.662 NaN 0 0 0 0.00361 0 51 6 CCT8L2 150160 broad.mit.edu 37 22 17073279 17073279 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:17073279G>A uc002zlp.1 - 1 422 c.162C>T c.(160-162)CAC>CAT p.H54H NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 54 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCTGCCGGCCGTGGGGGCCAT 0.637 NaN 0 0 0 0.000602 0 3 94 C22orf29 79680 broad.mit.edu 37 22 19838758 19838758 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:19838758C>T uc002zqg.2 - 2 1626 c.1027G>A c.(1027-1029)GGT>AGT p.G343S GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Missense_Mutation_p.G343S|C22orf29_uc002zqi.2_Missense_Mutation_p.G343S|C22orf29_uc010grt.1_Intron NM_024627 NP_078903 Q7L3V2 CV029_HUMAN hypothetical protein LOC79680 343 0 Colorectal(54;0.0993) TGTGGGGTACCTAAGGACACC 0.602 NaN 0 0 0 0.009096 0 4 2 MED15 51586 broad.mit.edu 37 22 20937496 20937496 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:20937496C>A uc002zsp.2 + 12 1714 c.1634C>A c.(1633-1635)CCC>CAC p.P545H MED15_uc002zsq.2_Missense_Mutation_p.P505H|MED15_uc010gso.2_Missense_Mutation_p.P488H|MED15_uc002zsr.2_Missense_Mutation_p.P479H|MED15_uc011ahs.1_Missense_Mutation_p.P479H|MED15_uc002zss.2_Missense_Mutation_p.P424H|MED15_uc011ahu.1_Missense_Mutation_p.P255H|MED15_uc002zst.2_Missense_Mutation_p.P161H|MED15_uc002zsu.2_Missense_Mutation_p.P150H NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 545 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TACATCGAGCCCCTGCGCCGC 0.607 NaN 1 0 0.000442599 0.006214 0.000451411 10 9 LZTR1 8216 broad.mit.edu 37 22 21345960 21345960 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:21345960C>G uc002zto.2 + 9 938 c.835C>G c.(835-837)CCA>GCA p.P279A LZTR1_uc002ztn.2_Missense_Mutation_p.P238A|LZTR1_uc011ahy.1_Missense_Mutation_p.P260A|LZTR1_uc010gsr.1_Missense_Mutation_p.P150A NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 279 Kelch 4. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GGGCTCCCCACCACCCCCGCA 0.647 NaN 0 0 0 0.006214 0 7 19 PPM1F 9647 broad.mit.edu 37 22 22277628 22277628 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:22277628C>A uc002zvp.1 - 8 1316 c.1202G>T c.(1201-1203)GGC>GTC p.G401V PPM1F_uc011aik.1_Missense_Mutation_p.G297V NM_014634 NP_055449 P49593 PPM1F_HUMAN protein phosphatase 1F 401 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(2)|large_intestine(1)|breast(1)|kidney(1) 5 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) GTCGTGGGAGCCCCGCTCCCG 0.687 NaN 1 0 1.7489e-18 0.011902 1.98428e-18 35 35 CRYBA4 1413 broad.mit.edu 37 22 27021570 27021570 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:27021570G>A uc003acz.3 + 4 319 c.284G>A c.(283-285)CGG>CAG p.R95Q NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 95 Beta/gamma crystallin 'Greek key' 2. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 ACCTCCTTCCGGCCTGCGGCC 0.537 NaN 0 0 0 0.00361 0 56 64 AP1B1 162 broad.mit.edu 37 22 29763219 29763219 + Missense_Mutation SNP T T G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:29763219T>G uc003afj.2 - 2 198 c.14A>C c.(13-15)AAA>ACA p.K5T AP1B1_uc003afi.2_Missense_Mutation_p.K5T|AP1B1_uc003afk.2_Missense_Mutation_p.K5T|AP1B1_uc003afl.2_Missense_Mutation_p.K5T NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 5 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 GGTGAAATATTTTGAGTCAGT 0.443 NaN 0 0 0 0.004656 0 13 43 PLA2G3 50487 broad.mit.edu 37 22 31532738 31532738 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:31532738A>G uc003aka.2 - 6 1376 c.1247T>C c.(1246-1248)ATG>ACG p.M416T NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 416 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 CTCCCAAAGCATGTTGGTAAC 0.627 NaN 0 0 0 0.001168 0 5 157 TRIOBP 11078 broad.mit.edu 37 22 38119892 38119892 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:38119892C>G uc003atr.2 + 7 1600 c.1329C>G c.(1327-1329)CCC>CCG p.P443P TRIOBP_uc003atu.2_Silent_p.P271P|TRIOBP_uc003atq.1_Silent_p.P443P|TRIOBP_uc003ats.1_Silent_p.P271P NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 443 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CCTCCTCTCCCAGTAGAGCTA 0.582 NaN 0 0 0 0.00245 0 5 111 TRIOBP 11078 broad.mit.edu 37 22 38120039 38120039 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:38120039C>G uc003atr.2 + 7 1747 c.1476C>G c.(1474-1476)CCC>CCG p.P492P TRIOBP_uc003atu.2_Silent_p.P320P|TRIOBP_uc003atq.1_Silent_p.P492P|TRIOBP_uc003ats.1_Silent_p.P320P NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 492 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CCTCCTCTCCCAGTAGAGCTA 0.582 NaN 0 0 0 0.00361 0 49 58 DNAJB7 150353 broad.mit.edu 37 22 41257777 41257777 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:41257777G>A uc003azj.2 - 1 354 c.222C>T c.(220-222)AAC>AAT p.N74N XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 74 protein folding heat shock protein binding|unfolded protein binding ovary(1) 1 TTCCACCTCCGTTTAATCCTT 0.358 NaN 0 0 0 0.00361 0 66 1 EFCAB6 64800 broad.mit.edu 37 22 44031097 44031097 + Splice_Site SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:44031097C>T uc003bdy.1 - 18 2199 c.1984_splice c.e18-1 p.V662_splice EFCAB6_uc003bdz.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzi.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) CTTCCAGTACCTGACGAGGGA 0.572 NaN 0 0 0 0.00361 0 37 40 FBLN1 2192 broad.mit.edu 37 22 45972913 45972913 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr22:45972913A>G uc003bgj.1 + 16 2044 c.1897A>G c.(1897-1899)ATC>GTC p.I633V NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 633 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GGCTAACATCATCTTCGACAT 0.552 NaN 0 0 0 0.013114 0 36 101 SNRK 54861 broad.mit.edu 37 3 43384866 43384866 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:43384866C>G uc003cms.3 + 6 1307 c.975C>G c.(973-975)ATC>ATG p.I325M SNRK_uc003cmt.3_Missense_Mutation_p.I325M|SNRK_uc010hik.2_Missense_Mutation_p.I325M|SNRK_uc011azr.1_Missense_Mutation_p.I119M NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN SNF related kinase 325 UBA. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) ATAACCATATCACAGCCACAT 0.448 NaN 0 0 0 0.009096 0 3 87 TMIE 259236 broad.mit.edu 37 3 46751086 46751086 + Missense_Mutation SNP A A C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:46751086A>C uc010hjk.1 + 4 534 c.379A>C c.(379-381)AAG>CAG p.K127Q TMIE_uc010hjj.1_3'UTR NM_147196 NP_671729 Q8NEW7 TMIE_HUMAN transmembrane inner ear protein precursor 127 Cytoplasmic (Potential).|Lys-rich. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) gaagaagaagaagaagaagaa 0.458 NaN 0 0 0 0.008871 0 19 28 CELSR3 1951 broad.mit.edu 37 3 48699092 48699092 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:48699092G>A uc003cul.2 - 1 1257 c.976C>T c.(976-978)CCG>TCG p.P326S CELSR3_uc003cuf.1_Missense_Mutation_p.P396S NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 326 Extracellular (Potential).|Cadherin 1. 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) TTGTACTGCGGAAACTGCGGG 0.701 NaN 0 0 0 0.009535 0 25 80 BSN 8927 broad.mit.edu 37 3 49689154 49689154 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:49689154C>T uc003cxe.3 + 5 2279 c.2165C>T c.(2164-2166)TCC>TTC p.S722F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 722 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCAGCCCCTCCGAGATCCAC 0.647 NaN 0 0 0 0.00361 0 62 30 GRM2 2912 broad.mit.edu 37 3 51746972 51746972 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:51746972G>A uc010hlv.2 + 3 1173 c.934G>A c.(934-936)GAG>AAG p.E312K GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 312 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GGGGGCTGCTGAGGGTGCTAT 0.627 NaN 0 0 0 0.00361 0 39 23 UBA3 9039 broad.mit.edu 37 3 69113226 69113226 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:69113226G>A uc003dno.2 - 7 485 c.465C>T c.(463-465)TTC>TTT p.F155F UBA3_uc003dnq.2_Silent_p.F141F|UBA3_uc011bfy.1_Intron|UBA3_uc011bfz.1_Intron NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN ubiquitin-activating enzyme 3 isoform 1 155 ATP. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) TACGTCGATAGAAAGTGTCGT 0.289 NaN 0 0 0 0.006214 0 6 7 ROBO2 6092 broad.mit.edu 37 3 77607281 77607281 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:77607281T>C uc003dpy.3 + 9 2061 c.1418T>C c.(1417-1419)CTG>CCG p.L473P ROBO2_uc003dpz.2_Missense_Mutation_p.L477P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L477P NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 473 Ig-like C2-type 5.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAAGGCACACTGCAGATTAAG 0.378 NaN 0 0 0 0.00361 0 55 24 ROBO2 6092 broad.mit.edu 37 3 77626765 77626765 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:77626765G>T uc003dpy.3 + 15 2971 c.2328G>T c.(2326-2328)AAG>AAT p.K776N ROBO2_uc003dpz.2_Missense_Mutation_p.K780N|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.K780N NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 776 Fibronectin type-III 3.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAGAATACAAGGTAGGACCCG 0.443 NaN 1 0 6.00712e-18 0.012213 6.76945e-18 25 14 EPHA6 285220 broad.mit.edu 37 3 97311498 97311498 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:97311498T>A uc010how.1 + 12 2472 c.2429T>A c.(2428-2430)TTC>TAC p.F810Y EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.F176Y|EPHA6_uc003drs.3_Missense_Mutation_p.F202Y|EPHA6_uc003drr.3_Missense_Mutation_p.F202Y|EPHA6_uc003drt.2_Missense_Mutation_p.F202Y|EPHA6_uc010hox.1_Intron NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 715 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TGCCCCAGCTTCCTGAGGGCA 0.493 NaN 0 0 0 0.00245 0 11 23 CD200 4345 broad.mit.edu 37 3 112059796 112059796 + Nonsense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:112059796G>A uc003dyw.2 + 3 279 c.135G>A c.(133-135)TGG>TGA p.W45* CD200_uc010hqd.1_5'UTR|CD200_uc003dyx.2_Nonsense_Mutation_p.W20*|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron NM_001004196 NP_001004196 P41217 OX2G_HUMAN CD200 antigen isoform b 20 regulation of immune response integral to plasma membrane 0 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) GCCTGGTTTGGGTCATGGCAG 0.483 NaN 0 0 0 0.005443 0 16 57 CCDC52 152185 broad.mit.edu 37 3 113188079 113188079 + Silent SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:113188079G>C uc003eag.3 - 8 909 c.618C>G c.(616-618)CTC>CTG p.L206L CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.L102L NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 206 cell division|mitosis centriole|spindle protein binding 0 TTAGTTGTTGGAGAAACCTAT 0.259 NaN 0 0 0 0.007413 0 16 6 KIAA2018 205717 broad.mit.edu 37 3 113376934 113376934 + Nonsense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:113376934G>A uc003eam.2 - 7 4006 c.3595C>T c.(3595-3597)CAG>TAG p.Q1199* KIAA2018_uc003eal.2_Nonsense_Mutation_p.Q1143* NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1199 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 ATTGAACCCTGAGAATTAAAT 0.413 NaN 0 0 0 0.00333 0 21 17 ZBTB20 26137 broad.mit.edu 37 3 114070467 114070467 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:114070467T>C uc003ebi.2 - 4 638 c.458A>G c.(457-459)AAG>AGG p.K153R ZBTB20_uc003ebj.2_Missense_Mutation_p.K80R|ZBTB20_uc010hqp.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebk.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebl.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebm.2_Missense_Mutation_p.K80R|ZBTB20_uc003ebn.2_Missense_Mutation_p.K80R|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 153 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GTCAATGAGCTTTTGCACTGA 0.582 NaN 0 0 0 0.012319 0 18 53 KTELC1 56983 broad.mit.edu 37 3 119205718 119205718 + Missense_Mutation SNP G G T rs117423733 by1000genomes TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:119205718G>T uc003ecm.2 + 7 761 c.677G>T c.(676-678)CGG>CTG p.R226L KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.R67L NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 226 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) CTTCTGTCTCGGAAAAACCCA 0.413 NaN 1 0 1.88225e-35 0.00361 2.21481e-35 47 68 GOLGB1 2804 broad.mit.edu 37 3 121410945 121410945 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:121410945C>T uc003eei.3 - 14 7377 c.7251G>A c.(7249-7251)CTG>CTA p.L2417L GOLGB1_uc010hrc.2_Silent_p.L2422L|GOLGB1_uc003eej.3_Silent_p.L2383L NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2417 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CCTCCTGGGACAGCAGGTTTT 0.403 NaN 0 0 0 0.002836 0 29 29 GOLGB1 2804 broad.mit.edu 37 3 121417379 121417379 + Missense_Mutation SNP A A C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:121417379A>C uc003eei.3 - 13 2102 c.1976T>G c.(1975-1977)GTA>GGA p.V659G GOLGB1_uc010hrc.2_Missense_Mutation_p.V664G|GOLGB1_uc003eej.3_Missense_Mutation_p.V625G|GOLGB1_uc011bjm.1_Missense_Mutation_p.V545G|GOLGB1_uc010hrd.1_Missense_Mutation_p.V623G NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 659 Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTTCAATTCTACTCCAGCATC 0.393 NaN 0 0 0 0.001168 0 3 92 CCDC37 348807 broad.mit.edu 37 3 126142417 126142417 + Nonsense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:126142417C>T uc003eiu.1 + 13 1315 c.1216C>T c.(1216-1218)CAG>TAG p.Q406* CCDC37_uc010hsg.1_Nonsense_Mutation_p.Q407* NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 406 Potential. ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) GTCGCTGATCCAGAACAGCCA 0.597 NaN 0 0 0 0.009718 0 33 39 ABTB1 80325 broad.mit.edu 37 3 127391916 127391916 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:127391916C>T uc003ejt.2 + 1 136 c.48C>T c.(46-48)GGC>GGT p.G16G ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.A3V|ABTB1_uc003eju.2_5'Flank NM_172027 NP_742024 Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 16 ANK 1. cytoplasm|nucleolus|plasma membrane translation elongation factor activity 0 GGGATGTGGGCCGAGTGCGGT 0.746 NaN 0 0 0 0.010729 0 9 19 ATP2C1 27032 broad.mit.edu 37 3 130686221 130686221 + Missense_Mutation SNP G G T rs115441492 by1000genomes TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:130686221G>T uc003enl.2 + 16 1488 c.1266G>T c.(1264-1266)ATG>ATT p.M422I ATP2C1_uc011blg.1_Missense_Mutation_p.M456I|ATP2C1_uc011blh.1_Missense_Mutation_p.M417I|ATP2C1_uc011bli.1_Missense_Mutation_p.M456I|ATP2C1_uc003enk.2_Missense_Mutation_p.M406I|ATP2C1_uc003enm.2_Missense_Mutation_p.M422I|ATP2C1_uc003enn.2_Missense_Mutation_p.M406I|ATP2C1_uc003eno.2_Missense_Mutation_p.M422I|ATP2C1_uc003enp.2_Missense_Mutation_p.M422I|ATP2C1_uc003enq.2_Missense_Mutation_p.M422I|ATP2C1_uc003enr.2_Missense_Mutation_p.M422I|ATP2C1_uc003ens.2_Missense_Mutation_p.M422I|ATP2C1_uc003ent.2_Missense_Mutation_p.M422I|ATP2C1_uc003enu.2_Missense_Mutation_p.M100I NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 422 Cytoplasmic (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) ATACTCTAATGGGGAAGCCAA 0.393 NaN Hailey-Hailey_disease 1 0 1.06644e-07 0.007835 1.11675e-07 29 36 EPHB1 2047 broad.mit.edu 37 3 134851706 134851706 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:134851706C>T uc003eqt.2 + 5 1332 c.1112C>T c.(1111-1113)TCC>TTC p.S371F EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 371 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CGGAGCTGCTCCCGCTGTGAC 0.612 NaN 0 0 0 0.007835 0 29 27 STAG1 10274 broad.mit.edu 37 3 136085925 136085925 + Splice_Site SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:136085925C>G uc003era.1 - 25 2838 c.2546_splice c.e25-1 p.E849_splice STAG1_uc003erb.1_Splice_Site_p.E849_splice|STAG1_uc003erc.1_Intron NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 TCATCACCCTCTAAACACAGA 0.299 NaN 0 0 0 0.012213 0 22 119 STAG1 10274 broad.mit.edu 37 3 136196190 136196190 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:136196190T>A uc003era.1 - 10 1259 c.967A>T c.(967-969)AGT>TGT p.S323C STAG1_uc003erb.1_Missense_Mutation_p.S323C|STAG1_uc003erc.1_Missense_Mutation_p.S97C|STAG1_uc010hua.1_Missense_Mutation_p.S186C NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 323 SCD. cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AAGGCATCACTATACATTTTC 0.343 NaN 0 0 0 0.00361 0 57 29 PRR23A 729627 broad.mit.edu 37 3 138724664 138724664 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:138724664G>A uc011bms.1 - 1 447 c.447C>T c.(445-447)ATC>ATT p.I149I NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN proline rich 23A 149 0 CCTGGGCGGCGATCTCTGGGA 0.647 NaN 0 0 0 0.00499 0 11 24 GRK7 131890 broad.mit.edu 37 3 141497288 141497288 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:141497288G>A uc011bnd.1 + 1 246 c.162G>A c.(160-162)CTG>CTA p.L54L NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 54 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 AGCTGTCCCTGAACTTCCACA 0.677 NaN 0 0 0 0.00278 0 20 1 PAQR9 344838 broad.mit.edu 37 3 142681984 142681984 + Silent SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:142681984A>T uc003evg.2 - 1 195 c.195T>A c.(193-195)CGT>CGA p.R65R PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 65 Cytoplasmic (Potential). integral to membrane receptor activity 0 TGCACGGCAGACGCCGGTAGC 0.667 NaN 0 0 0 0.00245 0 13 4 WDR49 151790 broad.mit.edu 37 3 167196776 167196776 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:167196776C>G uc003fev.1 - 15 2290 c.1984G>C c.(1984-1986)GCT>CCT p.A662P WDR49_uc003feu.1_Missense_Mutation_p.A487P|WDR49_uc011bpd.1_Missense_Mutation_p.A627P|WDR49_uc003few.1_3'UTR NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 662 large_intestine(1)|ovary(1)|skin(1) 3 TCAAATACAGCTTTCAAAGCT 0.318 NaN 0 0 0 0.004672 0 2 9 PLD1 5337 broad.mit.edu 37 3 171427487 171427487 + Silent SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:171427487T>C uc003fhs.2 - 10 1040 c.924A>G c.(922-924)TTA>TTG p.L308L PLD1_uc003fht.2_Silent_p.L308L NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 308 PH. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TGTTGCATTTTAAAATAAGTG 0.373 NaN 0 0 0 0.00361 0 39 39 NLGN1 22871 broad.mit.edu 37 3 173998359 173998359 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr3:173998359C>A uc003fio.1 + 7 2161 c.1738C>A c.(1738-1740)CAG>AAG p.Q580K NLGN1_uc003fip.1_Missense_Mutation_p.Q580K NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 597 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CAGATATTCCCAGAAAGACCA 0.403 NaN 1 0 1.30916e-28 0.00361 1.519e-28 41 48 GAK 2580 broad.mit.edu 37 4 860930 860930 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:860930C>A uc003gbm.3 - 21 2885 c.2686G>T c.(2686-2688)GTA>TTA p.V896L GAK_uc003gbn.3_Missense_Mutation_p.V817L|GAK_uc010ibk.1_Missense_Mutation_p.V790L|GAK_uc010ibi.2_Missense_Mutation_p.V77L|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.V760L NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 896 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) TGCGGGGGTACAGCTGGCCCT 0.701 NaN 1 0 5.35267e-07 0.007413 5.57884e-07 16 6 RGS12 6002 broad.mit.edu 37 4 3424264 3424264 + Silent SNP G G A rs139780010 TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:3424264G>A uc003ggw.2 + 11 3904 c.3000G>A c.(2998-3000)GCG>GCA p.A1000A RGS12_uc003ggv.2_Silent_p.A1000A|RGS12_uc003ggy.1_Silent_p.A398A|RGS12_uc003ggz.2_Silent_p.A352A|RGS12_uc010icu.1_Silent_p.A199A|RGS12_uc011bvs.1_Silent_p.A342A|RGS12_uc003gha.2_Silent_p.A342A|RGS12_uc010icv.2_Silent_p.A199A|RGS12_uc003ghb.2_Silent_p.A199A NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1000 RBD 1. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCAACGGGGCGGCCGCGGACC 0.672 NaN 0 0 0 0.006122 0 13 44 HGFAC 3083 broad.mit.edu 37 4 3449273 3449273 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:3449273G>A uc003ghc.2 + 11 1413 c.1410G>A c.(1408-1410)ACG>ACA p.T470T HGFAC_uc010icw.2_Silent_p.T477T NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 470 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TCAACCGCACGACGGACGTGA 0.662 NaN 0 0 0 0.00361 0 218 127 STK32B 55351 broad.mit.edu 37 4 5468533 5468533 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:5468533G>A uc003gih.1 + 10 1077 c.1013G>A c.(1012-1014)AGG>AAG p.R338K STK32B_uc010ida.1_Missense_Mutation_p.R291K NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 338 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 AACAGATCCAGGGATGGCACA 0.517 NaN 0 0 0 0.009535 0 24 15 HTRA3 94031 broad.mit.edu 37 4 8288388 8288388 + Missense_Mutation SNP A A C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:8288388A>C uc003gla.2 + 3 790 c.586A>C c.(586-588)AAC>CAC p.N196H HTRA3_uc003gkz.2_Missense_Mutation_p.N196H NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 196 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 GGTGTCCAGCAACAGTGCTGC 0.592 NaN 0 0 0 0.001168 0 5 121 C4orf23 152992 broad.mit.edu 37 4 8469757 8469757 + Missense_Mutation SNP G G C rs35357682 byFrequency TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:8469757G>C uc003glg.1 + 9 1112 c.924G>C c.(922-924)TGG>TGC p.W308C C4orf23_uc003glf.1_Missense_Mutation_p.W296C|C4orf23_uc003glh.1_Missense_Mutation_p.W145C NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN hypothetical protein LOC152992 isoform 2 537 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding 0 CACCTGGCTGGGAGCTTTCCC 0.587 NaN 0 0 0 0.008871 0 15 10 LDB2 9079 broad.mit.edu 37 4 16900017 16900017 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:16900017C>T uc003goz.2 - 1 408 c.92G>A c.(91-93)CGA>CAA p.R31Q LDB2_uc003gpa.2_Missense_Mutation_p.R31Q|LDB2_uc003gpb.2_Missense_Mutation_p.R31Q|LDB2_uc011bxh.1_Missense_Mutation_p.R31Q|LDB2_uc010iee.2_Missense_Mutation_p.R31Q NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 31 LIM domain binding|transcription cofactor activity 0 CTCATAGATTCGGTACTCTGG 0.453 NaN 0 0 0 0.00499 0 17 49 FRYL 285527 broad.mit.edu 37 4 48592691 48592691 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:48592691C>G uc003gyh.1 - 17 2097 c.1492G>C c.(1492-1494)GAA>CAA p.E498Q FRYL_uc003gyk.2_Missense_Mutation_p.E498Q NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 ACTTTTGCTTCTTCATCTGTC 0.299 NaN 0 0 0 0.004007 0 13 22 PDGFRA 5156 broad.mit.edu 37 4 55144549 55144549 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:55144549G>C uc003han.3 + 15 2354 c.2023G>C c.(2023-2025)GAG>CAG p.E675Q PDGFRA_uc003haa.2_Missense_Mutation_p.E435Q|PDGFRA_uc010igq.1_Missense_Mutation_p.E569Q|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.E54Q NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 675 Protein kinase.|Cytoplasmic (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) CATCATCACAGAGTATTGCTT 0.433 NaN Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 0 0 0 0.00333 0 17 26 LPHN3 23284 broad.mit.edu 37 4 62800644 62800644 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:62800644G>T uc010ihh.2 + 11 2168 c.1995G>T c.(1993-1995)GCG>GCT p.A665A LPHN3_uc003hcq.3_Silent_p.A665A|LPHN3_uc003hct.2_Silent_p.A58A|LPHN3_uc003hcs.1_Silent_p.A481A NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 652 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 AGCTGCGTGCGGCCACCATGT 0.463 NaN 1 0 5.4927e-09 0.004482 5.8158e-09 7 27 C4orf35 85438 broad.mit.edu 37 4 71201390 71201390 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:71201390A>G uc003hff.2 + 1 720 c.634A>G c.(634-636)ATT>GTT p.I212V NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 212 flagellum calcium ion binding 0 all_hematologic(202;0.196) TGATTCCACTATTCCTGAGGC 0.428 NaN 0 0 0 0.00632 0 18 26 MUC7 4589 broad.mit.edu 37 4 71347138 71347138 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:71347138C>T uc011cat.1 + 4 965 c.677C>T c.(676-678)CCA>CTA p.P226L MUC7_uc011cau.1_Missense_Mutation_p.P226L|MUC7_uc003hfj.2_Missense_Mutation_p.P226L|uc011cav.1_Intron NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 226 3.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) CCAGCTCCACCATCTTCCTCA 0.582 NaN 0 0 0 0.000602 0 5 244 RASGEF1B 153020 broad.mit.edu 37 4 82355883 82355883 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:82355883C>T uc003hmi.1 - 11 1254 c.1110G>A c.(1108-1110)GTG>GTA p.V370V RASGEF1B_uc003hmj.1_Silent_p.V369V|RASGEF1B_uc010ijq.1_Silent_p.V328V NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 370 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 AGAATGGTATCACAATCTAGA 0.358 NaN 0 0 0 0.004482 0 7 5 MRPS18C 51023 broad.mit.edu 37 4 84382165 84382165 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:84382165T>A uc003hor.3 + 5 445 c.332T>A c.(331-333)ATT>AAT p.I111N MRPS18C_uc011ccu.1_Missense_Mutation_p.I111N|FAM175A_uc003hot.2_3'UTR|FAM175A_uc003hou.2_3'UTR|FAM175A_uc003hov.2_3'UTR NM_016067 NP_057151 Q9Y3D5 RT18C_HUMAN mitochondrial ribosomal protein S18C precursor 111 translation mitochondrial small ribosomal subunit structural constituent of ribosome 0 Hepatocellular(203;0.114) ACAAAAGCAATTAAGAGAGCT 0.279 NaN 0 0 0 0.006214 0 7 23 MAPK10 5602 broad.mit.edu 37 4 87080492 87080492 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:87080492C>T uc003hpq.2 - 3 262 c.195G>A c.(193-195)CAG>CAA p.Q65Q MAPK10_uc010ikg.2_Silent_p.Q27Q|MAPK10_uc003hpr.2_Silent_p.Q27Q|MAPK10_uc003hps.2_Silent_p.Q65Q|MAPK10_uc003hpt.2_Silent_p.Q65Q|MAPK10_uc003hpu.2_Silent_p.Q65Q|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|uc003hpw.2_Intron NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 65 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding 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|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) GCTTTAGATTCTGGTAGCGCT 0.443 NaN 0 0 0 0.010729 0 11 45 RG9MTD2 93587 broad.mit.edu 37 4 100479265 100479265 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:100479265C>T uc003huy.2 - 3 602 c.289G>A c.(289-291)GTT>ATT p.V97I RG9MTD2_uc003huz.3_Missense_Mutation_p.V97I|RG9MTD2_uc003hva.3_Missense_Mutation_p.V97I NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN RNA (guanine-9-) methyltransferase domain 97 methyltransferase activity ovary(2)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) GTGCTATGAACAACATCTCTT 0.353 NaN 0 0 0 0.00245 0 13 11 ENPEP 2028 broad.mit.edu 37 4 111441503 111441503 + Missense_Mutation SNP C C G rs138043602 byFrequency TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:111441503C>G uc003iab.3 + 10 2050 c.1708C>G c.(1708-1710)CAG>GAG p.Q570E NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 570 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TAACCCTTCTCAGCCCCCTTC 0.413 NaN 0 0 0 0.005443 0 21 18 ANK2 287 broad.mit.edu 37 4 114179491 114179491 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:114179491T>C uc003ibe.3 + 13 1410 c.1310T>C c.(1309-1311)GTG>GCG p.V437A ANK2_uc003ibd.3_Missense_Mutation_p.V416A|ANK2_uc003ibf.3_Missense_Mutation_p.V437A|ANK2_uc003ibc.2_Missense_Mutation_p.V413A|ANK2_uc011cgb.1_Missense_Mutation_p.V452A NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 437 ANK 13. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCAATACATGTGGCTGCCTTC 0.488 NaN 0 0 0 0.005524 0 28 96 SYNPO2 171024 broad.mit.edu 37 4 119951885 119951885 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:119951885C>T uc003icm.3 + 4 2151 c.1955C>T c.(1954-1956)CCT>CTT p.P652L SYNPO2_uc010ina.2_Missense_Mutation_p.P652L|SYNPO2_uc010inb.2_Missense_Mutation_p.P652L|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.P580L NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 652 Pro-rich. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 TGGCCCCAGCCTGCCCCGTGG 0.582 NaN 0 0 0 0.004289 0 28 24 PDE5A 8654 broad.mit.edu 37 4 120527872 120527872 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:120527872C>A uc003idh.2 - 2 888 c.733G>T c.(733-735)GCA>TCA p.A245S PDE5A_uc003idf.2_Missense_Mutation_p.A203S|PDE5A_uc003idg.2_Missense_Mutation_p.A193S NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 245 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) ACCTCATATGCATCTTTGATG 0.507 NaN 1 0 2.29192e-23 0.00361 2.63175e-23 39 44 ANKRD50 57182 broad.mit.edu 37 4 125593360 125593360 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:125593360G>A uc003ifg.3 - 3 1338 c.1072C>T c.(1072-1074)CTT>TTT p.L358F ANKRD50_uc011cgo.1_Missense_Mutation_p.L179F|ANKRD50_uc010inw.2_Missense_Mutation_p.L358F NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 358 central_nervous_system(1) 1 CAGGCTGCAAGAATCACATTC 0.383 NaN 0 0 0 0.010818 0 25 50 INPP4B 8821 broad.mit.edu 37 4 143007320 143007320 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:143007320C>T uc003iix.3 - 25 3059 c.2464G>A c.(2464-2466)GAA>AAA p.E822K INPP4B_uc003iiw.3_Missense_Mutation_p.E822K|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.E637K|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 822 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) CACATAATTTCTACATTCTTT 0.358 NaN 0 0 0 0.004007 0 11 8 GUCY1A3 2982 broad.mit.edu 37 4 156634314 156634314 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:156634314C>T uc003iov.2 + 8 1687 c.1151C>T c.(1150-1152)TCA>TTA p.S384L GUCY1A3_uc010iqc.2_Missense_Mutation_p.S384L|GUCY1A3_uc003iow.2_Missense_Mutation_p.S384L|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S383L|GUCY1A3_uc003iox.2_Missense_Mutation_p.S384L|GUCY1A3_uc003ioz.2_Missense_Mutation_p.S149L|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S384L|GUCY1A3_uc010iqe.2_Missense_Mutation_p.S149L|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S384L NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 384 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TTTTTGGGGTCACCCTGTGTG 0.428 NaN 0 0 0 0.010504 0 18 32 TMEM144 55314 broad.mit.edu 37 4 159174635 159174635 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:159174635A>G uc003ipx.2 + 13 1514 c.994A>G c.(994-996)ATC>GTC p.I332V TMEM144_uc010iqi.2_RNA NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN transmembrane protein 144 332 Helical; (Potential). integral to membrane 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) TGCATTTTGCATCATCTTGAC 0.378 NaN 0 0 0 0.00623 0 27 62 ADAM29 11086 broad.mit.edu 37 4 175898028 175898028 + Nonsense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:175898028C>G uc003iuc.2 + 5 2022 c.1352C>G c.(1351-1353)TCA>TGA p.S451* ADAM29_uc003iud.2_Nonsense_Mutation_p.S451*|ADAM29_uc010irr.2_Nonsense_Mutation_p.S451*|ADAM29_uc011cki.1_Nonsense_Mutation_p.S451* NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 451 Disintegrin.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTCCTACCATCAGGGAAAGTG 0.443 NaN 0 0 0 0.002299 0 15 29 WDR17 116966 broad.mit.edu 37 4 177089822 177089822 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:177089822G>A uc003iuj.2 + 25 3263 c.3107G>A c.(3106-3108)AGG>AAG p.R1036K WDR17_uc003iuk.2_Missense_Mutation_p.R1012K|WDR17_uc003ium.3_Splice_Site_p.W997_splice|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Splice_Site_p.R247_splice NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1036 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TACGTTAACAGGAATTTGGCA 0.338 NaN 0 0 0 0.010729 0 7 43 CDKN2AIP 55602 broad.mit.edu 37 4 184367945 184367945 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:184367945C>T uc003ivp.1 + 3 1270 c.1108C>T c.(1108-1110)CTA>TTA p.L370L CDKN2AIP_uc003ivq.1_Silent_p.L115L NM_017632 NP_060102 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 370 Ser-rich. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding 0 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AGCTGCATCACTACTAGCTTC 0.488 NaN 0 0 0 0.00632 0 21 38 SORBS2 8470 broad.mit.edu 37 4 186544731 186544731 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:186544731C>G uc003iyl.2 - 13 2698 c.1840G>C c.(1840-1842)GAG>CAG p.E614Q SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.E714Q|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.E518Q|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.E728Q|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 614 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GATGACCCCTCTAGGTGAATG 0.463 NaN 0 0 0 0.003271 0 29 23 DNAH5 1767 broad.mit.edu 37 5 13753590 13753590 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:13753590G>A uc003jfd.2 - 63 10666 c.10624C>T c.(10624-10626)CTG>TTG p.L3542L DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3542 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) TCATTTAACAGAAGATCACGA 0.373 NaN Kartagener_syndrome 0 0 0 0.007835 0 33 68 PRDM9 56979 broad.mit.edu 37 5 23527693 23527693 + Silent SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:23527693T>C uc003jgo.2 + 11 2678 c.2496T>C c.(2494-2496)TAT>TAC p.Y832Y NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 832 C2H2-type 13. 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 AGAAGCCCTATGTCTGCAGGG 0.587 NaN HNSCC(3;0.000094) 0 0 0 0.006214 0 6 161 RNASEN 29102 broad.mit.edu 37 5 31431748 31431748 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:31431748C>T uc003jhg.2 - 25 3439 c.3080G>A c.(3079-3081)GGG>GAG p.G1027E RNASEN_uc003jhh.2_Missense_Mutation_p.G990E|RNASEN_uc003jhi.2_Missense_Mutation_p.G990E NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 1027 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 AAGGTCAGGCCCGTGAGCATA 0.373 NaN 0 0 0 0.011902 0 30 48 C9 735 broad.mit.edu 37 5 39288867 39288867 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:39288867C>G uc003jlv.3 - 10 1692 c.1603G>C c.(1603-1605)GAG>CAG p.E535Q NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 535 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GCAATTCCCTCAAATTTGAAT 0.348 NaN 0 0 0 0.00361 0 50 82 PAIP1 10605 broad.mit.edu 37 5 43547879 43547879 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 A T A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:43547879A>T uc003job.2 - 3 819 c.572T>A c.(571-573)GTT>GAT p.V191D PAIP1_uc003joa.2_Missense_Mutation_p.V112D|PAIP1_uc010ivp.2_Missense_Mutation_p.V112D|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.V79D NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 191 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) ATCTGTTGTAACACAACCATT 0.408 NaN 0 0 0 0.00361 0 56 63 HCN1 348980 broad.mit.edu 37 5 45303881 45303881 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:45303881C>A uc003jok.2 - 6 1463 c.1438G>T c.(1438-1440)GAT>TAT p.D480Y NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 480 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AAATTAGGATCCGCATTAGCA 0.383 NaN 1 0 1.21826e-31 0.00361 1.42594e-31 60 88 GPR98 84059 broad.mit.edu 37 5 90101230 90101230 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:90101230G>C uc003kju.2 + 72 14887 c.14791G>C c.(14791-14793)GAA>CAA p.E4931Q GPR98_uc003kjt.2_Missense_Mutation_p.E2637Q|GPR98_uc003kjw.2_Missense_Mutation_p.E592Q NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4931 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCTGGGTTAGAAATTCCTGA 0.453 NaN 0 0 0 0.00361 0 38 2 GPR98 84059 broad.mit.edu 37 5 90106817 90106817 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:90106817G>A uc003kju.2 + 74 15836 c.15740G>A c.(15739-15741)AGA>AAA p.R5247K GPR98_uc003kjt.2_Missense_Mutation_p.R2953K|GPR98_uc003kjw.2_Missense_Mutation_p.R908K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5247 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTTATCCGAAGAACTGGTGGG 0.418 NaN 0 0 0 0.012213 0 31 0 DMXL1 1657 broad.mit.edu 37 5 118440935 118440935 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:118440935A>G uc003ksd.2 + 4 527 c.346A>G c.(346-348)ATA>GTA p.I116V DMXL1_uc010jcl.1_Missense_Mutation_p.I116V|DMXL1_uc003ksc.1_Missense_Mutation_p.I116V NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 116 WD 1. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AGCACACAATATAACCTGGGA 0.318 NaN 0 0 0 0.004289 0 27 23 FBN2 2201 broad.mit.edu 37 5 127674745 127674745 + Nonsense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:127674745C>A uc003kuu.2 - 26 3791 c.3352G>T c.(3352-3354)GAG>TAG p.E1118* FBN2_uc003kuv.2_Nonsense_Mutation_p.E1085* NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1118 EGF-like 16; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ATCCTGCACTCGTCGATGTCT 0.458 NaN 1 0 1.67305e-13 0.00623 1.83567e-13 26 28 LECT2 3950 broad.mit.edu 37 5 135288607 135288607 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:135288607C>A uc003lbe.1 - 2 297 c.96G>T c.(94-96)GAG>GAT p.E32D NM_002302 NP_002293 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 precursor 32 chemotaxis|skeletal system development cytoplasm|extracellular space ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACGTCCGGATCTCATTGGAAG 0.507 NaN 1 0 6.40141e-05 0.010729 6.55898e-05 8 283 FAM13B 51306 broad.mit.edu 37 5 137347541 137347541 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:137347541C>G uc003lbz.2 - 5 998 c.464G>C c.(463-465)AGA>ACA p.R155T FAM13B_uc003lcb.2_Missense_Mutation_p.R37T|FAM13B_uc003lca.2_Missense_Mutation_p.R155T NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 155 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 GGCTAAAAATCTACACAGAAA 0.338 NaN 0 0 0 0.010818 0 24 25 PCDHA6 56142 broad.mit.edu 37 5 140209923 140209923 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:140209923G>A uc003lho.2 + 1 2274 c.2247G>A c.(2245-2247)TCG>TCA p.S749S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S749S NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 749 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGGTCGTACTCGCAGC 0.657 NaN 0 0 0 0.001168 0 3 52 PCDHA8 56140 broad.mit.edu 37 5 140221688 140221688 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:140221688T>A uc003lhs.2 + 1 782 c.782T>A c.(781-783)GTT>GAT p.V261D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.V261D NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 261 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAACAACAGTTATCAAACTG 0.408 NaN 0 0 0 0.008361 0 27 38 PCDHA12 56137 broad.mit.edu 37 5 140255207 140255207 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:140255207G>A uc003lic.2 + 1 277 c.150G>A c.(148-150)CAG>CAA p.Q50Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.Q50Q NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 50 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCGCTCAGGACCTGGGGC 0.642 NaN 0 0 0 0.007291 0 21 35 PCDHB16 57717 broad.mit.edu 37 5 140563833 140563833 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:140563833A>G uc003liv.2 + 1 2854 c.1699A>G c.(1699-1701)AAC>GAC p.N567D NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 567 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCGCTGCAGAACGGCTCCGC 0.711 NaN 0 0 0 0.004656 0 20 86 PCDHB10 56126 broad.mit.edu 37 5 140573673 140573673 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:140573673C>T uc003lix.2 + 1 1722 c.1548C>T c.(1546-1548)CTC>CTT p.L516L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 516 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTTCGCCCTCAGGTCGCTGG 0.706 NaN 0 0 0 0.00361 0 76 224 PCDHGA11 56105 broad.mit.edu 37 5 140800805 140800805 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:140800805G>A uc003lkq.1 + 1 269 c.11G>A c.(10-12)CGG>CAG p.R4Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.R4Q|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R4Q NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 4 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGCGAATCGGCTACAGCGC 0.592 NaN 0 0 0 0.004482 0 5 15 ARAP3 64411 broad.mit.edu 37 5 141035204 141035204 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:141035204G>A uc003llm.2 - 31 4172 c.4094C>T c.(4093-4095)TCT>TTT p.S1365F ARAP3_uc003lll.2_Missense_Mutation_p.S316F|ARAP3_uc011dbe.1_Missense_Mutation_p.S1027F|ARAP3_uc003lln.2_Missense_Mutation_p.S1196F NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1365 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 CTGATTGGCAGAGAGGAGGGT 0.587 NaN 0 0 0 0.00499 0 13 74 PCDH1 5097 broad.mit.edu 37 5 141243228 141243228 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:141243228T>C uc003llq.2 - 3 2785 c.2668A>G c.(2668-2670)AAG>GAG p.K890E PCDH1_uc003llp.2_Missense_Mutation_p.K890E|PCDH1_uc011dbf.1_Missense_Mutation_p.K868E NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 890 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GTCTCCTTCTTACCAGCCTGG 0.587 NaN 0 0 0 0.00361 0 92 97 SLC6A7 6534 broad.mit.edu 37 5 149585112 149585112 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:149585112G>A uc003lrr.2 + 13 1998 c.1627G>A c.(1627-1629)GGC>AGC p.G543S NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 543 Helical; Name=12; (Potential). integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) CATCCTGATGGGCCTGCTGTC 0.612 NaN 0 0 0 0.00361 0 60 47 SYNPO 11346 broad.mit.edu 37 5 150029566 150029566 + Missense_Mutation SNP A A C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:150029566A>C uc003lsn.2 + 3 2835 c.2461A>C c.(2461-2463)ATC>CTC p.I821L SYNPO_uc003lso.3_Missense_Mutation_p.I577L|SYNPO_uc003lsp.2_Missense_Mutation_p.I577L NM_001109974 NP_001103444 Q8N3V7 SYNPO_HUMAN synaptopodin isoform B 821 Pro-rich. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding large_intestine(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTCTCACCTATCAAGGAGCC 0.652 NaN 0 0 0 0.00361 0 46 52 IL12B 3593 broad.mit.edu 37 5 158750268 158750268 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:158750268G>T uc003lxr.1 - 3 200 c.158C>A c.(157-159)CCT>CAT p.P53H NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 53 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCTTCTTCAGGGGTGTCACA 0.483 NaN 1 0 3.57192e-18 0.006122 4.03888e-18 14 17 ZNF354A 6940 broad.mit.edu 37 5 178139071 178139071 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:178139071T>A uc003mjj.2 - 5 2006 c.1808A>T c.(1807-1809)GAG>GTG p.E603V NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 603 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) CTAGGGGTCCTCTTCGATATG 0.348 NaN 0 0 0 0.00632 0 22 15 MAPK9 5601 broad.mit.edu 37 5 179675979 179675979 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr5:179675979C>T uc003mls.3 - 6 881 c.610G>A c.(610-612)GAG>AAG p.E204K MAPK9_uc003mlt.3_Missense_Mutation_p.E204K|MAPK9_uc010jlc.2_Missense_Mutation_p.E204K|MAPK9_uc003mlv.3_Missense_Mutation_p.E204K|MAPK9_uc011dgx.1_Missense_Mutation_p.E204K NM_002752 NP_002743 P45984 MK09_HUMAN mitogen-activated protein kinase 9 isoform JNK2 204 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding 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|nucleoplasm ATP binding|JUN kinase activity|protein binding|protein binding central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1) 4 all_cancers(89;6.54e-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) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCACCGTTCTCTTTGTAGCCC 0.527 NaN 0 0 0 0.00361 0 248 343 TBC1D7 51256 broad.mit.edu 37 6 13327121 13327121 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:13327121C>G uc003naj.2 - 2 101 c.10G>C c.(10-12)GAC>CAC p.D4H TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.D4H|TBC1D7_uc003nal.2_Missense_Mutation_p.D4H|TBC1D7_uc003nam.2_Missense_Mutation_p.D4H|TBC1D7_uc003nao.2_Missense_Mutation_p.D4H|TBC1D7_uc010jpd.2_Missense_Mutation_p.D4H|TBC1D7_uc003nap.2_Missense_Mutation_p.D4H|TBC1D7_uc003naq.2_Missense_Mutation_p.D4H NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 isoform a 4 positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity ovary(1) 1 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) CTCTGAGAGTCCTCAGTCATA 0.383 NaN 0 0 0 0.001168 0 4 22 KDM1B 221656 broad.mit.edu 37 6 18222170 18222170 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:18222170A>G uc003nco.1 + 15 1882 c.1807A>G c.(1807-1809)ACA>GCA p.T603A KDM1B_uc003ncn.1_Missense_Mutation_p.T574A|KDM1B_uc003ncp.1_Missense_Mutation_p.T159A|KDM1B_uc003ncq.1_Missense_Mutation_p.Y157C NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 806 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 ACAAACTGTTACAGGGGCATA 0.398 NaN 0 0 0 0.010729 0 7 136 RNF39 80352 broad.mit.edu 37 6 30043128 30043128 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:30043128C>T uc003npe.2 - 1 501 c.439G>A c.(439-441)GTG>ATG p.V147M RNF39_uc003npd.2_Missense_Mutation_p.V147M NM_025236 NP_079512 Q9H2S5 RNF39_HUMAN ring finger protein 39 isoform 1 147 cytoplasm zinc ion binding 0 GCCAGCCGCACATTAGACCTC 0.751 NaN 0 0 0 0.008291 0 8 0 MUC21 394263 broad.mit.edu 37 6 30954960 30954960 + Silent SNP C C T rs41288683 TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:30954960C>T uc003nsh.2 + 2 1259 c.1008C>T c.(1006-1008)AGC>AGT p.S336S MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 336 Ser-rich.|28 X 15 AA approximate tandem repeats.|21.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 CTGAGTCCAGCACGACCTCCA 0.627 NaN 0 0 0 0.009535 0 9 376 MICB 4277 broad.mit.edu 37 6 31473433 31473433 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:31473433A>G uc003ntn.3 + 2 226 c.110A>G c.(109-111)CAG>CGG p.Q37R MICB_uc011dnm.1_Missense_Mutation_p.Q5R|MICB_uc003nto.3_Missense_Mutation_p.Q37R NM_005931 NP_005922 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 37 Extracellular (Potential). antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding 0 GTGCTGTCCCAGGATGGATCT 0.522 NaN 0 0 0 0.009096 0 3 124 COL11A2 1302 broad.mit.edu 37 6 33141522 33141522 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:33141522C>T uc003ocx.1 - 35 2812 c.2584G>A c.(2584-2586)GGA>AGA p.G862R COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G776R|COL11A2_uc003ocz.1_Missense_Mutation_p.G755R NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 862 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CCAGATGTTCCCTGTGGGGGG 0.642 NaN 0 0 0 0.002299 0 18 0 GRM4 2914 broad.mit.edu 37 6 34003490 34003490 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:34003490C>A uc003oir.3 - 8 2567 c.2397G>T c.(2395-2397)CTG>CTT p.L799L GRM4_uc011dsn.1_Silent_p.L752L|GRM4_uc010jvh.2_Silent_p.L799L|GRM4_uc010jvi.2_Silent_p.L491L|GRM4_uc003oio.2_Silent_p.L491L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L659L|GRM4_uc003oiq.2_Silent_p.L666L|GRM4_uc011dsm.1_Silent_p.L630L NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 799 Helical; Name=6; (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) GGATGAAGGCCAGCCAGACGA 0.622 NaN 1 0 4.13886e-29 0.00361 4.81061e-29 46 2 FKBP5 2289 broad.mit.edu 37 6 35586902 35586902 + Nonsense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:35586902G>C uc011dte.1 - 5 682 c.479C>G c.(478-480)TCA>TGA p.S160* FKBP5_uc003okx.2_Nonsense_Mutation_p.S160*|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Nonsense_Mutation_p.S160*|FKBP5_uc003okz.2_Nonsense_Mutation_p.S160* NM_001145776 NP_001139248 Q13451 FKBP5_HUMAN FK506 binding protein 5 isoform 1 160 PPIase FKBP-type 2. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 GTTTGGATTTGAATATCCCTC 0.383 NaN 0 0 0 0.00361 0 47 4 MTCH1 23787 broad.mit.edu 37 6 36937845 36937845 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:36937845C>G uc003ond.1 - 11 1068 c.1068G>C c.(1066-1068)TGG>TGC p.W356C MTCH1_uc003onc.1_Missense_Mutation_p.W339C|MTCH1_uc010jwo.1_RNA|MTCH1_uc003one.3_Missense_Mutation_p.W356C|MTCH1_uc011dtt.1_Missense_Mutation_p.W171C NM_014341 NP_055156 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier homolog 1 356 activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding 0 AGCAGTGAATCCAGGATTTGA 0.552 NaN 0 0 0 0.00361 0 54 3 TSPO2 222642 broad.mit.edu 37 6 41010863 41010863 + Silent SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:41010863T>C uc003opj.2 + 2 440 c.139T>C c.(139-141)TTG>CTG p.L47L UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Silent_p.Y56Y|TSPO2_uc011dub.1_Silent_p.L47L NM_001010873 NP_001010873 Q5TGU0 TSPO2_HUMAN benzodiazapine receptor (peripheral)-like 1 47 Helical; (Potential). transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity 0 CAAAGTCTTATTGCTTGTACA 0.537 NaN 0 0 0 0.00361 0 43 89 GUCA1B 2979 broad.mit.edu 37 6 42156424 42156424 + Missense_Mutation SNP C C T rs147956742 byFrequency TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:42156424C>T uc003orz.2 - 2 389 c.253G>A c.(253-255)GTG>ATG p.V85M NM_002098 NP_002089 Q9UMX6 GUC1B_HUMAN guanylate cyclase activator 1B (retina) 85 EF-hand 2. body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception plasma membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity skin(2) 2 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177) CCCCTCAGCACGAGATTCAGA 0.547 NaN 0 0 0 0.008291 0 9 22 CENPQ 55166 broad.mit.edu 37 6 49448703 49448703 + Missense_Mutation SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:49448703A>T uc003ozh.1 + 6 476 c.387A>T c.(385-387)AAA>AAT p.K129N NM_018132 NP_060602 Q7L2Z9 CENPQ_HUMAN centromere protein Q 129 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm ovary(2) 2 Lung NSC(77;0.0128) TCCCTCCCAAAAAGATGGAAG 0.303 NaN 0 0 0 0.008871 0 13 26 MCM3 4172 broad.mit.edu 37 6 52141909 52141909 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:52141909G>A uc003pan.1 - 8 1231 c.1121C>T c.(1120-1122)TCT>TTT p.S374F MCM3_uc011dwu.1_Missense_Mutation_p.S328F NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 374 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) ACCCACTCCAGAGGAGCCCCG 0.602 NaN 0 0 0 0.008871 0 16 30 B3GAT2 135152 broad.mit.edu 37 6 71665987 71665987 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:71665987C>T uc003pfv.2 - 1 802 c.146G>A c.(145-147)GGC>GAC p.G49D B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.G49D NM_080742 NP_542780 Q9NPZ5 B3GA2_HUMAN beta-1,3-glucuronyltransferase 2 49 Lumenal (Potential). carbohydrate biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GAGTCGGGCGCCCCCGCGGCC 0.711 NaN 0 0 0 0.001168 0 5 2 OGFRL1 79627 broad.mit.edu 37 6 72011571 72011571 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:72011571G>A uc003pfx.1 + 7 1338 c.1175G>A c.(1174-1176)AGA>AAA p.R392K NM_024576 NP_078852 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 392 membrane receptor activity 0 GCCAAGCCAAGAAATACAGAG 0.448 NaN 0 0 0 0.010729 0 9 14 DOPEY1 23033 broad.mit.edu 37 6 83835289 83835289 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:83835289G>A uc003pjs.1 + 15 1816 c.1556G>A c.(1555-1557)AGC>AAC p.S519N DOPEY1_uc011dyy.1_Missense_Mutation_p.S510N|DOPEY1_uc010kbl.1_Missense_Mutation_p.S510N NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 519 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GCCTTGACAAGCCATCTCCAG 0.418 NaN 0 0 0 0.00361 0 43 82 SPACA1 81833 broad.mit.edu 37 6 88775899 88775899 + Splice_Site SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:88775899G>T uc003pmn.2 + 7 849 c.732_splice c.e7-1 p.W244_splice NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor integral to membrane 0 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) TTTTCTTCCAGGGCAGCAGTC 0.343 NaN 1 0 5.16669e-11 0.010729 5.57701e-11 10 31 CNR1 1268 broad.mit.edu 37 6 88854586 88854586 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:88854586C>A uc011dzq.1 - 2 3971 c.408G>T c.(406-408)CTG>CTT p.L136L CNR1_uc010kbz.2_Silent_p.L136L|CNR1_uc011dzr.1_Silent_p.L136L|CNR1_uc011dzs.1_Silent_p.L136L|CNR1_uc003pmq.3_Silent_p.L136L|CNR1_uc011dzt.1_Silent_p.L136L|CNR1_uc010kca.2_Silent_p.L103L NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 136 Helical; Name=1; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CGCACAGCACCAGGAGGTTCT 0.617 NaN 1 0 5.3912e-06 0.006122 5.55811e-06 12 7 KIAA0776 23376 broad.mit.edu 37 6 97000455 97000455 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:97000455C>A uc003por.2 + 18 2131 c.2083C>A c.(2083-2085)CAG>AAG p.Q695K KIAA0776_uc010kck.2_RNA NM_015323 NP_056138 O94874 UFL1_HUMAN hypothetical protein LOC23376 695 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity ovary(1) 1 all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0934) CCTGTTGTTTCAGTTTTCAAC 0.423 NaN 1 0 9.39395e-14 0.00632 1.0324e-13 22 20 TRDN 10345 broad.mit.edu 37 6 123759226 123759226 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:123759226T>C uc003pzj.1 - 12 1055 c.1033A>G c.(1033-1035)ATT>GTT p.I345V TRDN_uc003pzk.1_Missense_Mutation_p.I346V|TRDN_uc003pzl.1_Missense_Mutation_p.I346V|uc003pzm.1_5'Flank NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 345 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) TCCACATCAATGGCAGTTTCC 0.338 NaN 0 0 0 0.001984 0 5 0 EYA4 2070 broad.mit.edu 37 6 133769307 133769307 + Silent SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:133769307T>A uc003qec.3 + 5 725 c.267T>A c.(265-267)TCT>TCA p.S89S EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Silent_p.S89S|EYA4_uc003qee.3_Intron|EYA4_uc011ecs.1_Silent_p.S89S|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 89 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ACACCCCCTCTTCTGCAACAA 0.448 NaN 0 0 0 0.005524 0 28 23 CNKSR3 154043 broad.mit.edu 37 6 154727695 154727695 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:154727695G>A uc003qpy.2 - 13 1966 c.1461C>T c.(1459-1461)CCC>CCT p.P487P NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 487 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) GCTCGGTCGTGGGTCTGGAGA 0.577 NaN 0 0 0 0.002836 0 31 23 ARID1B 57492 broad.mit.edu 37 6 157222596 157222596 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:157222596G>T uc003qqn.2 + 3 1802 c.1650G>T c.(1648-1650)CCG>CCT p.P550P ARID1B_uc003qqo.2_Silent_p.P563P|ARID1B_uc003qqp.2_Silent_p.P550P NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 608 Gln-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CGCAGCCCCCGCACCTCCCAC 0.617 NaN 1 0 3.52763e-06 0.00499 3.64248e-06 12 25 RSPH3 83861 broad.mit.edu 37 6 159404769 159404769 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:159404769C>T uc003qrx.2 - 4 1033 c.843G>A c.(841-843)TTG>TTA p.L281L RSPH3_uc010kju.2_Intron|RSPH3_uc003qry.1_Silent_p.L281L NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog 281 ovary(1)|skin(1) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) GTGGTCTGTCCAAAAATGCAT 0.393 NaN 0 0 0 0.005443 0 21 30 LPA 4018 broad.mit.edu 37 6 161022029 161022029 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:161022029C>A uc003qtl.2 - 20 3167 c.3047G>T c.(3046-3048)CGA>CTA p.R1016L NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3524 Kringle 31. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ATCTGAGCATCGTGTCAGGTT 0.498 NaN 1 0 1.10513e-12 0.002299 1.20461e-12 16 16 T 6862 broad.mit.edu 37 6 166571949 166571949 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:166571949G>A uc003quu.1 - 9 1655 c.1162C>T c.(1162-1164)CAT>TAT p.H388Y T_uc003qut.1_Missense_Mutation_p.H389Y|T_uc003quv.1_Missense_Mutation_p.H330Y NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 388 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GAGACCGGATGGGTGAGGGGT 0.716 NaN Chordoma_Familial_Clustering_of 0 0 0 0.008871 0 14 12 ICA1 3382 broad.mit.edu 37 7 8196838 8196838 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:8196838G>C uc003srm.2 - 8 779 c.712C>G c.(712-714)CTG>GTG p.L238V ICA1_uc010ktr.2_Missense_Mutation_p.L238V|ICA1_uc003srl.2_Missense_Mutation_p.L226V|ICA1_uc003srn.3_Missense_Mutation_p.L164V|ICA1_uc003srp.3_Missense_Mutation_p.L237V|ICA1_uc010kts.2_Intron|ICA1_uc003srq.2_Missense_Mutation_p.L238V|ICA1_uc003srr.2_Missense_Mutation_p.L237V|ICA1_uc003sro.3_Missense_Mutation_p.L238V|ICA1_uc011jxg.1_Missense_Mutation_p.L238V|ICA1_uc003srs.1_Missense_Mutation_p.L238V NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 238 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) AAATGAAGCAGAGTGGTCTGC 0.393 NaN 0 0 0 0.010729 0 8 40 ETV1 2115 broad.mit.edu 37 7 14026281 14026281 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:14026281C>G uc011jxq.1 - 5 902 c.163G>C c.(163-165)GAA>CAA p.E55Q ETV1_uc011jxn.1_5'Flank|ETV1_uc011jxo.1_5'Flank|ETV1_uc011jxp.1_5'Flank|ETV1_uc003ssw.3_Missense_Mutation_p.E55Q|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.E55Q|ETV1_uc011jxs.1_Missense_Mutation_p.E55Q|ETV1_uc010ktv.2_5'Flank NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 55 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 AGCCATGTTTCCTGTAATTGA 0.323 NaN T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 0 0 0 0.004482 0 6 30 ABCB5 340273 broad.mit.edu 37 7 20785059 20785059 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:20785059G>A uc003suw.3 + 17 2638 c.2092G>A c.(2092-2094)GAG>AAG p.E698K ABCB5_uc010kuh.2_Missense_Mutation_p.E1143K NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 698 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AGGTCTCCCTGAGGTAAGAAA 0.398 NaN 0 0 0 0.008291 0 9 13 DNAH11 8701 broad.mit.edu 37 7 21826250 21826250 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:21826250C>T uc003svc.2 + 60 9658 c.9627C>T c.(9625-9627)CTC>CTT p.L3209L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3209 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AGGTCAACCTCAGTGAGCTGA 0.517 NaN Kartagener_syndrome 0 0 0 0.005443 0 20 42 DFNA5 1687 broad.mit.edu 37 7 24756952 24756952 + Silent SNP G G A rs142033677 TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:24756952G>A uc010kus.1 - 5 706 c.618C>T c.(616-618)AAC>AAT p.N206N DFNA5_uc003swz.2_Silent_p.N42N|DFNA5_uc003sxa.1_Silent_p.N206N|DFNA5_uc010kut.1_Silent_p.N42N|DFNA5_uc003sxb.2_Silent_p.N206N NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 206 sensory perception of sound ovary(1) 1 CCAGCACCACGTTGGAGTCCT 0.582 NaN 0 0 0 0.006999 0 32 17 CREB5 9586 broad.mit.edu 37 7 28763907 28763907 + Nonsense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:28763907T>A uc003szq.2 + 7 1050 c.660T>A c.(658-660)TGT>TGA p.C220* CREB5_uc003szo.2_Nonsense_Mutation_p.C187*|CREB5_uc003szr.2_Nonsense_Mutation_p.C213*|CREB5_uc003szs.2_Nonsense_Mutation_p.C81*|CREB5_uc011jzr.1_Nonsense_Mutation_p.C69* NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 220 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 GCAACCCCTGTGCTTCTCCCC 0.408 NaN 0 0 0 0.006122 0 12 27 FAM188B 84182 broad.mit.edu 37 7 30831104 30831104 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:30831104C>G uc003tbt.2 + 5 1064 c.987C>G c.(985-987)CTC>CTG p.L329L FAM188B_uc010kwe.2_Silent_p.L300L NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 329 0 CCTTGAAGCTCTACTTGCCTG 0.627 NaN 0 0 0 0.001368 0 10 35 GHRHR 2692 broad.mit.edu 37 7 31014105 31014105 + Splice_Site SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:31014105G>A uc003tbx.2 + 8 860 c.812_splice c.e8+1 p.A271_splice GHRHR_uc003tbw.1_Splice_Site_p.A271_splice|GHRHR_uc003tby.2_Splice_Site_p.A207_splice|GHRHR_uc003tbz.2_Splice_Site_p.R37_splice NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) AGGACATCGCGTGAGTCGGAG 0.617 NaN 0 0 0 0.010818 0 25 71 POU6F2 11281 broad.mit.edu 37 7 39247149 39247149 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:39247149C>A uc003thb.1 + 4 483 c.441C>A c.(439-441)ACC>ACA p.T147T POU6F2_uc010kxo.2_Silent_p.T139T NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 147 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 CGAATCTCACCAACATCCAAG 0.552 NaN 1 0 3.52763e-06 0.00499 3.64248e-06 17 26 TNS3 64759 broad.mit.edu 37 7 47408849 47408849 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:47408849T>A uc003tnv.2 - 17 1761 c.1394A>T c.(1393-1395)AAT>ATT p.N465I TNS3_uc003tnw.2_Missense_Mutation_p.N465I NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 465 focal adhesion protein binding ovary(4) 4 AGCGTCTCCATTCACGTGAAC 0.582 NaN 0 0 0 0.00333 0 18 24 C7orf57 136288 broad.mit.edu 37 7 48081010 48081010 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:48081010C>T uc003toh.3 + 3 347 c.135C>T c.(133-135)AGC>AGT p.S45S C7orf57_uc003toi.3_5'UTR NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 45 ovary(1) 1 CAGGTCTCAGCAATTTGGGAG 0.537 NaN 0 0 0 0.004007 0 13 23 ABCA13 154664 broad.mit.edu 37 7 48316091 48316091 + Silent SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:48316091A>G uc003toq.2 + 17 6853 c.6828A>G c.(6826-6828)CTA>CTG p.L2276L ABCA13_uc010kyr.2_Silent_p.L1779L NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2276 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCCTTTTTCTAAAGGAAGATT 0.343 NaN 0 0 0 0.001855 0 12 8 IKZF1 10320 broad.mit.edu 37 7 50468169 50468169 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:50468169G>T uc003tow.3 + 9 1572 c.1404G>T c.(1402-1404)CGG>CGT p.R468R IKZF1_uc003tox.3_Silent_p.R426R|IKZF1_uc003toy.3_Silent_p.R426R|IKZF1_uc011kck.1_Silent_p.R381R|IKZF1_uc003toz.3_Silent_p.R438R|IKZF1_uc010kyx.2_Silent_p.R208R|IKZF1_uc003tpa.3_Silent_p.R210R NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 468 C2H2-type 5.|Required for binding PP1CC (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) AACACTGCCGGGTGCTCTTCC 0.622 NaN D ALL 1 0 3.11337e-16 0.002836 3.47904e-16 22 14 POM121L12 285877 broad.mit.edu 37 7 53103682 53103682 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:53103682C>G uc003tpz.2 + 1 334 c.318C>G c.(316-318)ACC>ACG p.T106T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 106 0 CCGGGGAGACCGCTCTGGGGC 0.711 NaN 0 0 0 0.004482 0 8 15 ZNF713 349075 broad.mit.edu 37 7 56006860 56006860 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:56006860G>A uc003trc.1 + 4 492 c.454G>A c.(454-456)GGA>AGA p.G152R ZNF713_uc003tra.1_Missense_Mutation_p.G165R|MRPS17_uc003trb.2_Intron NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAGATATTTAGGACAAGTAAC 0.413 NaN 0 0 0 0.004007 0 12 11 ZNF679 168417 broad.mit.edu 37 7 63721301 63721301 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:63721301C>T uc003tsx.2 + 4 525 c.256C>T c.(256-258)CAC>TAC p.H86Y NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN zinc finger protein 679 86 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GGTAACCAAACACCCAGGTAA 0.428 NaN 0 0 0 0.004672 0 3 21 SRRM3 222183 broad.mit.edu 37 7 75890733 75890733 + Splice_Site SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:75890733G>A uc010ldi.2 + 7 847 c.638_splice c.e7+1 p.R213_splice NM_001110199 NP_001103669 serine/arginine repetitive matrix 3 0 GCCGAGACAGGTACCCTTGCT 0.667 NaN 0 0 0 0.002299 0 16 1 PION 54103 broad.mit.edu 37 7 76950709 76950709 + Silent SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:76950709A>G uc003ugf.2 - 25 2014 c.1935T>C c.(1933-1935)ATT>ATC p.I645I PION_uc011kgo.1_Intron|PION_uc003ugd.2_Silent_p.I39I NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 645 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 CGATGTGGCAAATGAGATCCA 0.453 NaN 0 0 0 0.00308 0 4 86 MTERF 7978 broad.mit.edu 37 7 91503775 91503775 + Silent SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:91503775A>T uc003ulb.1 - 2 377 c.333T>A c.(331-333)CTT>CTA p.L111L MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Silent_p.L111L|MTERF_uc011khm.1_Silent_p.L91L|MTERF_uc010leu.1_Silent_p.L91L NM_006980 NP_008911 Q99551 MTERF_HUMAN mitochondrial transcription termination factor 111 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding 0 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) CTTTGGAAAGAAGGAACATCT 0.428 NaN 0 0 0 0.00361 0 93 40 NPTX2 4885 broad.mit.edu 37 7 98256632 98256632 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:98256632C>T uc003upl.2 + 4 1221 c.1044C>T c.(1042-1044)GGC>GGT p.G348G NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 348 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) AGCCCGGGGGCGTGCTGATCC 0.677 NaN 0 0 0 0.00361 0 53 11 ZNF394 84124 broad.mit.edu 37 7 99097527 99097527 + Nonsense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:99097527G>A uc003uqs.2 - 1 351 c.190C>T c.(190-192)CGA>TGA p.R64* ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Nonsense_Mutation_p.R64* NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 64 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAGTGCAGTCGAGAAGTTTCG 0.627 NaN 0 0 0 0.001984 0 7 46 GIGYF1 64599 broad.mit.edu 37 7 100280767 100280767 + Silent SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:100280767G>C uc003uwg.1 - 19 3289 c.2280C>G c.(2278-2280)CTC>CTG p.L760L NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 760 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGCCAGCCCAGAGTGGGGGCG 0.677 NaN 0 0 0 0.006214 0 8 1 MUC17 140453 broad.mit.edu 37 7 100684490 100684490 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:100684490A>G uc003uxp.1 + 3 9846 c.9793A>G c.(9793-9795)ACT>GCT p.T3265A MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3265 Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats. 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) ATCTCCTCCCACTGCTGAAGG 0.517 NaN 0 0 0 0.00361 0 516 155 NAPEPLD 222236 broad.mit.edu 37 7 102743924 102743924 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:102743924C>G uc003vbc.2 - 5 1462 c.1134G>C c.(1132-1134)TTG>TTC p.L378F NAPEPLD_uc003vbd.2_Missense_Mutation_p.L378F|NAPEPLD_uc011klj.1_Missense_Mutation_p.L451F|NAPEPLD_uc003vbe.2_RNA NM_198990 NP_945341 Q6IQ20 NAPEP_HUMAN N-acyl phosphatidylethanolamine phospholipase D 378 phospholipid catabolic process membrane metal ion binding skin(1) 1 CTCCATGCTTCAAGACAAAAA 0.348 NaN 0 0 0 0.003163 0 14 7 MLL5 55904 broad.mit.edu 37 7 104731675 104731675 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:104731675A>G uc003vcm.2 + 15 2170 c.1636A>G c.(1636-1638)ATT>GTT p.I546V MLL5_uc003vcl.2_Missense_Mutation_p.I546V|MLL5_uc010ljc.2_Missense_Mutation_p.I546V NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 546 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 ACCAGATTTTATTGATGATAT 0.318 NaN 0 0 0 0.004672 0 3 10 CADPS2 93664 broad.mit.edu 37 7 122377026 122377026 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:122377026C>T uc010lkp.2 - 2 599 c.436G>A c.(436-438)GTT>ATT p.V146I CADPS2_uc010lkq.2_Missense_Mutation_p.V146I NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 146 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TAACTCCGAACTGCGTTGCAA 0.378 NaN 0 0 0 0.001855 0 10 16 AHCYL2 23382 broad.mit.edu 37 7 129040163 129040163 + Missense_Mutation SNP G G C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:129040163G>C uc011kov.1 + 6 910 c.856G>C c.(856-858)GAA>CAA p.E286Q AHCYL2_uc003vot.2_Missense_Mutation_p.E285Q|AHCYL2_uc003vov.2_Missense_Mutation_p.E183Q|AHCYL2_uc011kow.1_Missense_Mutation_p.E184Q|AHCYL2_uc011kox.1_Missense_Mutation_p.E183Q NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 286 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 GGGAGAGTCAGAAGATGACTT 0.448 NaN 0 0 0 0.002299 0 19 43 LRGUK 136332 broad.mit.edu 37 7 133812382 133812382 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:133812382G>A uc003vrm.1 + 1 278 c.262G>A c.(262-264)GAG>AAG p.E88K NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 88 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 GGCGGGATCCGAGGAGTCCTC 0.617 NaN 0 0 0 0.012213 0 22 39 SMARCD3 6604 broad.mit.edu 37 7 150939810 150939810 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:150939810C>T uc003wjs.2 - 4 554 c.453G>A c.(451-453)ATG>ATA p.M151I SMARCD3_uc003wjt.2_Missense_Mutation_p.M138I|SMARCD3_uc003wju.2_Missense_Mutation_p.M138I|SMARCD3_uc011kvh.1_Missense_Mutation_p.M151I|SMARCD3_uc010lqa.1_Missense_Mutation_p.M151I NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 151 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGGCACCTTCATGGGCCTCT 0.577 NaN 0 0 0 0.00361 0 54 127 DPP6 1804 broad.mit.edu 37 7 154598703 154598703 + Splice_Site SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:154598703G>T uc003wlk.2 + 16 1677 c.1548_splice c.e16-1 p.S516_splice DPP6_uc003wli.2_Splice_Site_p.S452_splice|DPP6_uc003wlm.2_Splice_Site_p.S454_splice|DPP6_uc011kvq.1_Splice_Site_p.S409_splice NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TGCTCTTCCAGTGCCAACACG 0.597 NaN 1 0 2.04263e-09 0.004289 2.16969e-09 33 54 VIPR2 7434 broad.mit.edu 37 7 158851235 158851235 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr7:158851235G>T uc003woh.2 - 5 578 c.392C>A c.(391-393)ACC>AAC p.T131N VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 131 Helical; Name=1; (Potential). cell-cell signaling integral to plasma membrane lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) GTAGCCCAGTGTATAAATGGC 0.413 NaN 1 0 2.19489e-29 0.00623 2.55559e-29 27 58 PTK2B 2185 broad.mit.edu 37 8 27277583 27277583 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:27277583G>A uc003xfn.1 + 8 1184 c.376G>A c.(376-378)GAG>AAG p.E126K PTK2B_uc003xfo.1_Missense_Mutation_p.E126K|PTK2B_uc003xfp.1_Missense_Mutation_p.E126K|PTK2B_uc003xfq.1_Missense_Mutation_p.E126K NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 126 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CGTGGAAGCCGAGTGGAGGTA 0.582 NaN 0 0 0 0.00623 0 29 26 ANK1 286 broad.mit.edu 37 8 41525865 41525865 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:41525865G>T uc003xok.2 - 39 5398 c.5314C>A c.(5314-5316)CAG>AAG p.Q1772K NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.Q926K|ANK1_uc003xoi.2_Missense_Mutation_p.Q1772K|ANK1_uc003xoj.2_Missense_Mutation_p.Q1772K|ANK1_uc003xol.2_Missense_Mutation_p.Q1610K|ANK1_uc003xom.2_Missense_Mutation_p.Q1813K NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1772 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTGTCGGCCTGGGAGCTCTCA 0.617 NaN 1 0 1.61788e-16 0.012213 1.81094e-16 29 22 PRKDC 5591 broad.mit.edu 37 8 48694764 48694764 + Silent SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:48694764A>G uc003xqi.2 - 81 11505 c.11448T>C c.(11446-11448)CTT>CTC p.L3816L PRKDC_uc003xqj.2_Intron|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3816 PI3K/PI4K. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGGTGTTCAAAAGAAGGTCCT 0.502 NaN NHEJ 0 0 0 0.004482 0 8 50 SLCO5A1 81796 broad.mit.edu 37 8 70744123 70744123 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:70744123G>T uc003xyl.2 - 2 1493 c.786C>A c.(784-786)GTC>GTA p.V262V SLCO5A1_uc010lzb.2_Silent_p.V262V|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.V262V|SLCO5A1_uc010lzc.2_Silent_p.V262V NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 262 Helical; Name=4; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AAGCCACGTAGACCCAGTGAT 0.542 NaN 1 0 1.05386e-31 0.00361 1.23568e-31 40 16 TRPA1 8989 broad.mit.edu 37 8 72981302 72981302 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:72981302G>A uc003xza.2 - 3 575 c.400C>T c.(400-402)CCT>TCT p.P134S NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 134 Cytoplasmic (Potential).|ANK 3. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) ATGTGGAGAGGAGCCATCATG 0.512 NaN 0 0 0 0.00361 0 110 190 ZFHX4 79776 broad.mit.edu 37 8 77765656 77765656 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:77765656G>T uc003yav.2 + 10 6751 c.6364G>T c.(6364-6366)GGC>TGC p.G2122C ZFHX4_uc003yau.1_Missense_Mutation_p.G2167C|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2122C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2122 Homeobox 1. 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) AGAGAAATCTGGCCTCTCCCA 0.368 NaN HNSCC(33;0.089) 1 0 4.96729e-08 0.008871 5.20979e-08 19 17 RUNX1T1 862 broad.mit.edu 37 8 93004034 93004034 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:93004034C>A uc003yfd.2 - 6 908 c.824G>T c.(823-825)CGG>CTG p.R275L RUNX1T1_uc003yfc.1_Missense_Mutation_p.R248L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R238L|RUNX1T1_uc010mao.2_Missense_Mutation_p.R248L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R286L|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R238L NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 275 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGGACTGTACCGCTGGCCTGG 0.512 NaN 1 0 4.87955e-14 0.005443 5.37154e-14 22 23 PKHD1L1 93035 broad.mit.edu 37 8 110410761 110410761 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:110410761C>G uc003yne.2 + 12 1100 c.996C>G c.(994-996)CTC>CTG p.L332L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 332 Extracellular (Potential).|IPT/TIG 3. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTCATATTCTCAAAACTGTAT 0.294 NaN HNSCC(38;0.096) 0 0 0 0.00308 0 5 12 CSMD3 114788 broad.mit.edu 37 8 113299303 113299303 + Silent SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:113299303T>C uc003ynu.2 - 58 9480 c.9321A>G c.(9319-9321)CCA>CCG p.P3107P CSMD3_uc003yns.2_Silent_p.P2309P|CSMD3_uc003ynt.2_Silent_p.P3067P|CSMD3_uc011lhx.1_Silent_p.P2938P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3107 Extracellular (Potential).|Sushi 22. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTTTGCACTCTGGCTGCCTTC 0.378 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.00308 0 6 133 KCNK9 51305 broad.mit.edu 37 8 140715046 140715046 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:140715046G>A uc003yvf.1 - 1 254 c.190C>T c.(190-192)CTG>TTG p.L64L KCNK9_uc003yvg.1_Silent_p.L64L NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 64 Extracellular (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) AGGATCACCAGCTCCAGCTGC 0.597 NaN 0 0 0 0.00333 0 21 27 CHRAC1 54108 broad.mit.edu 37 8 141524510 141524510 + Missense_Mutation SNP G G T rs143839289 TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:141524510G>T uc003yvl.2 + 2 388 c.190G>T c.(190-192)GGC>TGC p.G64C CHRAC1_uc010mem.1_Intron NM_017444 NP_059140 Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 64 chromatin remodeling chromatin accessibility complex|epsilon DNA polymerase complex DNA-directed DNA polymerase activity|sequence-specific DNA binding ovary(1) 1 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) CTACAGACACGGCAGTGGAAA 0.383 NaN 1 0 7.41945e-09 0.005443 7.8186e-09 19 11 PTP4A3 11156 broad.mit.edu 37 8 142441037 142441037 + Nonsense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:142441037G>T uc003ywg.1 + 5 749 c.415G>T c.(415-417)GGA>TGA p.G139* PTP4A3_uc003ywh.1_Nonsense_Mutation_p.G114*|PTP4A3_uc010met.1_Silent_p.A52A NM_032611 NP_116000 O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 139 Tyrosine-protein phosphatase. early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) GAAGCGCCGCGGAGCCATCAA 0.597 NaN 1 0 1.96292e-10 0.010504 2.10516e-10 17 23 PPP1R16A 84988 broad.mit.edu 37 8 145727093 145727093 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr8:145727093C>T uc003zdd.2 + 11 2307 c.1394C>T c.(1393-1395)GCT>GTT p.A465V uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.A465V|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank NM_032902 NP_116291 Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory (inhibitor) 465 plasma membrane protein binding 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CAGCGAGCTGCTGCCAAGCTG 0.692 NaN 0 0 0 0.001984 0 5 7 MPDZ 8777 broad.mit.edu 37 9 13107098 13107098 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:13107098C>T uc010mhy.2 - 45 6043 c.5992G>A c.(5992-5994)GAA>AAA p.E1998K MPDZ_uc003zkx.3_Missense_Mutation_p.E222K|MPDZ_uc003zky.3_Missense_Mutation_p.E561K|MPDZ_uc010mib.2_Missense_Mutation_p.E732K|MPDZ_uc010mhx.2_Missense_Mutation_p.E849K|MPDZ_uc011lmm.1_Missense_Mutation_p.E886K|MPDZ_uc003zkz.3_Missense_Mutation_p.E720K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1994K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1965K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1998K NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 2027 PDZ 13. 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) CGTCCGTCTTCAGAGGCTGCT 0.433 NaN 0 0 0 0.003954 0 21 90 CER1 9350 broad.mit.edu 37 9 14720287 14720287 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:14720287G>T uc003zlj.2 - 2 650 c.605C>A c.(604-606)TCC>TAC p.S202Y NM_005454 NP_005445 O95813 CER1_HUMAN cerberus 1 precursor 202 CTCK. BMP signaling pathway extracellular space cytokine activity 0 GBM - Glioblastoma multiforme(50;3.16e-06) GGAGGTATGGGAGTGCTGCGC 0.502 NaN 1 0 1.80694e-10 0.009535 1.94101e-10 25 98 TOPORS 10210 broad.mit.edu 37 9 32544067 32544067 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:32544067C>T uc003zrb.2 - 3 623 c.456G>A c.(454-456)GTG>GTA p.V152V TOPORS_uc003zrc.2_Silent_p.V85V NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 152 E3 ubiquitin-protein ligase activity.|Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CTTCTGCCCTCACAGAATGGA 0.428 NaN 0 0 0 0.00333 0 22 72 DNAI1 27019 broad.mit.edu 37 9 34514538 34514538 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:34514538C>G uc003zum.2 + 17 1909 c.1716C>G c.(1714-1716)ATC>ATG p.I572M NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 572 WD 3. cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) ACCACACCATCAAGTGAGGGG 0.597 NaN Kartagener_syndrome 0 0 0 0.00361 0 56 42 PIGO 84720 broad.mit.edu 37 9 35090170 35090170 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:35090170C>G uc003zwd.2 - 9 3358 c.2962G>C c.(2962-2964)GAG>CAG p.E988Q PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Missense_Mutation_p.E571Q|PIGO_uc003zwf.2_Missense_Mutation_p.E571Q|PIGO_uc003zwg.1_3'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 988 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCCTCTTCCTCCTCGGGTCTG 0.597 NaN 0 0 0 0.001368 0 13 53 NPR2 4882 broad.mit.edu 37 9 35792645 35792645 + Silent SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:35792645A>G uc003zyd.2 + 1 240 c.240A>G c.(238-240)GCA>GCG p.A80A NPR2_uc010mlb.2_Silent_p.A80A NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 80 Extracellular (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) AGTACCTGGCACCGCTGAGCG 0.657 NaN 0 0 0 0.008871 0 16 105 FRMPD1 22844 broad.mit.edu 37 9 37745551 37745551 + Silent SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:37745551A>T uc004aag.1 + 16 3566 c.3522A>T c.(3520-3522)CCA>CCT p.P1174P FRMPD1_uc004aah.1_Silent_p.P1174P NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1174 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) AGCAGATCCCACCACATCCCC 0.478 NaN 0 0 0 0.001168 0 6 25 FAM75A6 389730 broad.mit.edu 37 9 43627203 43627203 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:43627203G>T uc011lrb.1 - 4 1513 c.1484C>A c.(1483-1485)GCT>GAT p.A495D NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 495 integral to membrane 0 ATGGGCCTGAGCCTCGGCCTG 0.542 NaN 1 0 1.06012e-137 0.00361 1.27214e-137 277 449 PTAR1 375743 broad.mit.edu 37 9 72333393 72333393 + Silent SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:72333393C>A uc004ahj.3 - 8 1096 c.1074G>T c.(1072-1074)CGG>CGT p.R358R PTAR1_uc004ahi.2_Silent_p.R306R NM_001099666 NP_001093136 Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat 358 protein prenylation protein prenyltransferase activity central_nervous_system(1) 1 GAACTGGCGTCCGCTTCAGGC 0.522 NaN 1 0 2.39556e-15 0.00278 2.65908e-15 19 20 GNA14 9630 broad.mit.edu 37 9 80043925 80043925 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:80043925C>T uc004aku.2 - 5 1144 c.621G>A c.(619-621)TCG>TCA p.S207S NM_004297 NP_004288 O95837 GNA14_HUMAN G alpha 14 207 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(2) 2 TCCGTCTTTCCGATCGTTGGC 0.453 NaN 0 0 0 0.00361 0 112 71 TLE1 7088 broad.mit.edu 37 9 84230944 84230944 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:84230944C>T uc004aly.2 - 11 1312 c.871G>A c.(871-873)GCC>ACC p.A291T TLE1_uc004alz.2_Missense_Mutation_p.A301T|TLE1_uc011lsr.1_Missense_Mutation_p.A291T|TLE1_uc004ama.1_Missense_Mutation_p.A291T|TLE1_uc011lss.1_Missense_Mutation_p.A217T NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 291 Pro/Ser-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 GCCGAGGAGGCCGTGGAAGCT 0.488 NaN 0 0 0 0.004289 0 32 16 KIF27 55582 broad.mit.edu 37 9 86518142 86518142 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:86518142G>A uc004ana.2 - 4 1435 c.1291C>T c.(1291-1293)CTA>TTA p.L431L KIF27_uc010mpw.2_Silent_p.L431L|KIF27_uc010mpx.2_Silent_p.L431L NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 431 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TTTTCGTTTAGTCTGACAGTA 0.473 NaN 0 0 0 0.001368 0 10 21 DAPK1 1612 broad.mit.edu 37 9 90266558 90266558 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:90266558C>T uc004apc.2 + 17 1881 c.1743C>T c.(1741-1743)CTC>CTT p.L581L DAPK1_uc004apd.2_Silent_p.L581L|DAPK1_uc011ltg.1_Silent_p.L581L|DAPK1_uc011lth.1_Silent_p.L318L|DAPK1_uc004apf.1_Silent_p.L135L NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 581 ANK 7. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 ATACTCCCCTCCATGTGGCAT 0.493 NaN Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 0 0 0 0.000602 0 4 66 FAM75C1 441452 broad.mit.edu 37 9 90536698 90536698 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:90536698G>A uc010mqi.2 + 4 1905 c.1876G>A c.(1876-1878)GCA>ACA p.A626T FAM75C1_uc004apq.3_Missense_Mutation_p.A609T NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 CAGCAATCTAGCAGCCCCGAA 0.537 NaN 0 0 0 0.002836 0 29 62 NCBP1 4686 broad.mit.edu 37 9 100433475 100433475 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:100433475G>A uc004axq.2 + 23 2826 c.2367G>A c.(2365-2367)CAG>CAA p.Q789Q NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 789 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) GTGCCCTGCAGGCCTAAGGGT 0.393 NaN 0 0 0 0.010729 0 10 26 FKBP15 23307 broad.mit.edu 37 9 115931551 115931551 + Silent SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:115931551T>A uc004bgs.2 - 26 3556 c.3438A>T c.(3436-3438)ACA>ACT p.T1146T FKBP15_uc004bgr.2_Silent_p.T583T|FKBP15_uc011lxc.1_Silent_p.T727T|FKBP15_uc011lxd.1_Silent_p.T1078T NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 1146 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 CTCCTGCAACTGTGGAACCTG 0.562 NaN 0 0 0 0.003163 0 11 32 RPL35 11224 broad.mit.edu 37 9 127623766 127623766 + Silent SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:127623766C>T uc004boy.1 - 2 121 c.72G>A c.(70-72)CTG>CTA p.L24L ARPC5L_uc004boz.1_5'Flank NM_007209 NP_009140 P42766 RL35_HUMAN ribosomal protein L35 24 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus mRNA binding|protein binding|structural constituent of ribosome ovary(1) 1 GBM - Glioblastoma multiforme(294;0.182) GCTCCACCTTCAGGTCGTCCA 0.612 NaN 0 0 0 0.00361 0 44 10 BARHL1 56751 broad.mit.edu 37 9 135458598 135458598 + Silent SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:135458598A>G uc004cbp.1 + 1 606 c.414A>G c.(412-414)AGA>AGG p.R138R NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 138 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) AGGACTTTAGAGACAAGCTGG 0.582 NaN 0 0 0 0.004007 0 15 2 COL5A1 1289 broad.mit.edu 37 9 137687131 137687131 + Silent SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:137687131C>G uc004cfe.2 + 34 3151 c.2769C>G c.(2767-2769)CCC>CCG p.P923P NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 923 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AAAGAGGCCCCCGGGGCATCA 0.632 NaN 0 0 0 0.003163 0 12 63 KCNT1 57582 broad.mit.edu 37 9 138675901 138675901 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr9:138675901T>A uc011mdq.1 + 25 2947 c.2873T>A c.(2872-2874)TTC>TAC p.F958Y KCNT1_uc011mdr.1_Missense_Mutation_p.F785Y|KCNT1_uc010nbf.2_Missense_Mutation_p.F913Y|KCNT1_uc004cgo.1_Missense_Mutation_p.F707Y NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 958 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AACCTGGCCTTCATGTTCCGC 0.662 NaN 0 0 0 0.00361 0 67 23 SFRS17A 8227 broad.mit.edu 37 X 1719725 1719725 + Silent SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:1719725G>T uc004cqa.2 + 5 1522 c.1326G>T c.(1324-1326)CTG>CTT p.L442L SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 442 PKA-RI-alpha subunit binding domain. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 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) TGAGCATCCTGCTGAGCAAGA 0.692 NaN 1 0 3.86212e-05 0.008291 3.96328e-05 5 8 ZBED1 9189 broad.mit.edu 37 X 2407722 2407722 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:2407722C>T uc004cqg.2 - 2 1240 c.1039G>A c.(1039-1041)GTG>ATG p.V347M DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.V347M NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 347 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 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) CGGTTGCTCACCAGCATGCAG 0.617 NaN 0 0 0 0.012319 0 20 13 CLCN4 1183 broad.mit.edu 37 X 10155598 10155598 + Missense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:10155598G>T uc004csy.3 + 4 618 c.188G>T c.(187-189)AGC>ATC p.S63I CLCN4_uc011mid.1_Intron NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 63 Cytoplasmic (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 TTCATCAAGAGCCTGCTGGAT 0.542 NaN 1 0 8.60899e-122 0.00361 1.03122e-121 184 8 NHS 4810 broad.mit.edu 37 X 17739625 17739625 + Missense_Mutation SNP A A G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:17739625A>G uc004cxx.2 + 4 1255 c.917A>G c.(916-918)CAC>CGC p.H306R NHS_uc011mix.1_Missense_Mutation_p.H327R|NHS_uc004cxy.2_Missense_Mutation_p.H150R|NHS_uc004cxz.2_Missense_Mutation_p.H129R|NHS_uc004cya.2_Missense_Mutation_p.H29R NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 306 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) AACCCAATACACAATATCCCT 0.483 NaN 0 0 0 0.00361 0 67 2 PTCHD1 139411 broad.mit.edu 37 X 23411277 23411277 + Missense_Mutation SNP T T A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:23411277T>A uc004dal.3 + 3 1650 c.1642T>A c.(1642-1644)TAC>AAC p.Y548N NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 548 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 CCAGCAAAAGTACTTCAGCAA 0.433 NaN 0 0 0 0.00278 0 18 59 MAGEB2 4113 broad.mit.edu 37 X 30237164 30237164 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:30237164C>G uc004dbz.2 + 2 570 c.467C>G c.(466-468)GCC>GGC p.A156G NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 156 MAGE. protein binding ovary(1) 1 CTCAAGAAAGCCTCTGAGGGC 0.448 NaN 0 0 0 0.006214 0 8 0 CASK 8573 broad.mit.edu 37 X 41437603 41437603 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:41437603T>C uc004dfl.3 - 15 1539 c.1493A>G c.(1492-1494)GAT>GGT p.D498G CASK_uc004dfj.3_Missense_Mutation_p.D61G|CASK_uc004dfk.3_Missense_Mutation_p.D313G|CASK_uc004dfm.3_Missense_Mutation_p.D498G|CASK_uc004dfn.3_Missense_Mutation_p.D492G NM_003688 NP_003679 O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein 498 PDZ. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity ovary(3)|lung(2)|stomach(1) 6 CATTGGTTCATCTGTGTTCTT 0.413 NaN 0 0 0 0.009718 0 36 0 RRAGB 10325 broad.mit.edu 37 X 55777615 55777615 + Nonsense_Mutation SNP G G T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:55777615G>T uc004dup.2 + 7 1333 c.682G>T c.(682-684)GAA>TAA p.E228* RRAGB_uc004duq.2_Nonsense_Mutation_p.E200* NM_016656 NP_057740 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B long isoform 228 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding 0 TATCTGGGATGAAACCCTCTA 0.363 NaN 1 0 2.54575e-18 0.010504 2.88345e-18 14 0 OPHN1 4983 broad.mit.edu 37 X 67431998 67431998 + Silent SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:67431998T>C uc004dww.3 - 8 948 c.654A>G c.(652-654)ACA>ACG p.T218T OPHN1_uc011mpg.1_Silent_p.T218T|OPHN1_uc004dwx.2_Silent_p.T218T NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 218 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 GGAAATCCTGTGTGAGCTCCA 0.403 NaN 0 0 0 0.007413 0 13 1 ACRC 93953 broad.mit.edu 37 X 70823918 70823918 + Missense_Mutation SNP C C T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:70823918C>T uc004eae.2 + 8 1292 c.791C>T c.(790-792)GCT>GTT p.A264V BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 264 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) GATTCGGAAGCTCCCGACGAC 0.557 NaN 0 0 0 0.008291 0 3 39 ZMAT1 84460 broad.mit.edu 37 X 101153125 101153125 + Silent SNP A A T TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:101153125A>T uc011mrl.1 - 4 608 c.297T>A c.(295-297)GGT>GGA p.G99G ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR NM_001011657 NP_001011657 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 1 Error:Variant_position_missing_in_A7MD47_after_alignment nucleus zinc ion binding ovary(1) 1 TCATTTTCTTACCAGGCACTT 0.313 NaN 0 0 0 0.008361 0 22 0 PLS3 5358 broad.mit.edu 37 X 114871237 114871237 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:114871237C>G uc004eqd.2 + 8 1228 c.838C>G c.(838-840)CAT>GAT p.H280D PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.H258D|PLS3_uc004eqe.2_Missense_Mutation_p.H280D|PLS3_uc011mtg.1_Missense_Mutation_p.H253D|PLS3_uc011mth.1_Missense_Mutation_p.H235D NM_005032 NP_005023 P13797 PLST_HUMAN plastin 3 280 CH 2.|Actin-binding 1. cytoplasm actin binding|calcium ion binding lung(1)|breast(1) 2 GGCAAACTTTCATTTGGAAAA 0.408 NaN 0 0 0 0.002299 0 17 43 UBE2A 7319 broad.mit.edu 37 X 118708895 118708895 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:118708895G>A uc004erl.2 + 2 252 c.76G>A c.(76-78)GGG>AGG p.G26R UBE2A_uc004erm.2_Missense_Mutation_p.G26R|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA NM_003336 NP_003327 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A isoform 1 26 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity 0 CGGAGTCAGCGGGGCTCCGTC 0.657 NaN Direct_reversal_of_damage|Rad6_pathway 0 0 0 0.00361 0 61 3 ENOX2 10495 broad.mit.edu 37 X 129801714 129801714 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:129801714C>A uc004evw.2 - 9 1202 c.784G>T c.(784-786)GAT>TAT p.D262Y ENOX2_uc004evx.2_Missense_Mutation_p.D233Y|ENOX2_uc004evy.2_Missense_Mutation_p.D233Y|ENOX2_uc004evv.2_Missense_Mutation_p.D89Y NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 262 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 AATTTGGAATCATCTGAAAAA 0.403 NaN 1 0 5.9392e-07 0.001168 6.18048e-07 5 10 IGSF1 3547 broad.mit.edu 37 X 130409559 130409559 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:130409559G>A uc004ewd.2 - 16 3315 c.3077C>T c.(3076-3078)ACC>ATC p.T1026I IGSF1_uc004ewe.3_Missense_Mutation_p.T1020I|IGSF1_uc004ewf.2_Missense_Mutation_p.T1006I NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1026 Extracellular (Potential).|Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 AGATATATTGGTGATGGGGAA 0.517 NaN 0 0 0 0.00361 0 89 2 MAGEC1 9947 broad.mit.edu 37 X 140994913 140994913 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:140994913C>A uc004fbt.2 + 4 2009 c.1723C>A c.(1723-1725)CTG>ATG p.L575M MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 575 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GGAGGACTCCCTGTCTCCTCA 0.597 NaN HNSCC(15;0.026) 1 0 3.09899e-07 0.004482 3.23499e-07 6 301 ATP2B3 492 broad.mit.edu 37 X 152807362 152807362 + Silent SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:152807362G>A uc004fht.1 + 3 768 c.642G>A c.(640-642)GGG>GGA p.G214G ATP2B3_uc004fhs.1_Silent_p.G214G NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 214 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGTGGTGGGGGACATTGCCC 0.637 NaN 0 0 0 0.00361 0 59 9 POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:145457040_145457042delTCT uc001enp.1 - 7 626_628 c.519_521delAGA c.(517-522)GAAGAG>GAG p.173_174EE>E NBPF10_uc001emp.3_Intron NM_032305 NP_115681 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide 173_174 Glu-rich. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.286 NaN NaN NaN NaN NaN NaN 5 9 --- --- CEP350 9857 broad.mit.edu 37 1 180053254 180053254 + Frame_Shift_Del DEL A A - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:180053254delA uc001gnt.2 + 31 6609 c.6226delA c.(6226-6228)AAAfs p.K2076fs CEP350_uc009wxl.2_Frame_Shift_Del_p.K2075fs|CEP350_uc001gnv.2_Frame_Shift_Del_p.K211fs|CEP350_uc001gnw.1_5'Flank NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2076 Potential. centrosome|nucleus|spindle ovary(4) 4 GAAGGAACAGAAAAAAAGGCA 0.423 NaN NaN NaN NaN NaN NaN 2 4 --- --- OR6F1 343169 broad.mit.edu 37 1 247875413 247875414 + Frame_Shift_Del DEL AA AA - rs147403383 TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr1:247875413_247875414delAA uc001idj.1 - 1 644_645 c.644_645delTT c.(643-645)TTTfs p.F215fs NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CATAGGAGACAAAGGTGATGAG 0.559 NaN NaN NaN NaN NaN NaN 136 96 --- --- ATG2A 23130 broad.mit.edu 37 11 64679559 64679560 + Frame_Shift_Del DEL GT GT - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:64679559_64679560delGT uc001obx.2 - 8 1199_1200 c.1084_1085delAC c.(1084-1086)ACTfs p.T362fs NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 362 protein binding ovary(1)|central_nervous_system(1) 2 ACACCCACCAGTGTTATCCAGG 0.639 NaN NaN NaN NaN NaN NaN 17 99 --- --- USP28 57646 broad.mit.edu 37 11 113694349 113694350 + Frame_Shift_Del DEL TT TT - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr11:113694349_113694350delTT uc001poh.2 - 12 1293_1294 c.1260_1261delAA c.(1258-1263)AAAATTfs p.K420fs USP28_uc001pog.2_Frame_Shift_Del_p.K128fs|USP28_uc010rwy.1_Frame_Shift_Del_p.K295fs|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Frame_Shift_Del_p.K420fs NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 420_421 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TGCTGCAGAATTTTTATTTCCT 0.302 NaN NaN NaN NaN NaN NaN 25 29 --- --- KRT2 3849 broad.mit.edu 37 12 53045603 53045604 + In_Frame_Ins INS - - AAGCCGCTGCCACCTCCA rs35124031 TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA uc001sat.2 - 1 356_357 c.323_324insTGGAGGTGGCAGCGGCTT c.(322-324)TTC>TTTGGAGGTGGCAGCGGCTTC p.108_108F>FGGGSGF NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 108 Head. F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946). keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) caccaccactgaagccgctgcc 0.069 NaN NaN NaN NaN NaN NaN 2 4 --- --- BAZ1A 11177 broad.mit.edu 37 14 35240754 35240755 + Frame_Shift_Del DEL CT CT - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr14:35240754_35240755delCT uc001wsk.2 - 21 3831_3832 c.3263_3264delAG c.(3262-3264)GAGfs p.E1088fs BAZ1A_uc001wsl.2_Frame_Shift_Del_p.E1056fs NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1088 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CAATGCCCTGCTCTATTTGAAA 0.366 NaN NaN NaN NaN NaN NaN 49 166 --- --- CSPG4 1464 broad.mit.edu 37 15 75981450 75981450 + Frame_Shift_Del DEL G G - rs141434179 byFrequency TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr15:75981450delG uc002baw.2 - 3 2049 c.1956delC c.(1954-1956)GCCfs p.A652fs NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 652 Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CCTTCAGCGTGGCCGGGGGGC 0.672 NaN NaN NaN NaN NaN NaN 63 27 --- --- IL32 9235 broad.mit.edu 37 16 3117416 3117416 + Frame_Shift_Del DEL G G - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr16:3117416delG uc002cto.2 + 3 265 c.54delG c.(52-54)ATGfs p.M18fs IL32_uc002ctk.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwp.1_Frame_Shift_Del_p.M18fs|IL32_uc010btb.2_Frame_Shift_Del_p.M8fs|IL32_uc002ctl.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctm.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctn.2_Frame_Shift_Del_p.M18fs|IL32_uc010btc.1_Frame_Shift_Del_p.M18fs|IL32_uc002cts.3_Frame_Shift_Del_p.M18fs|IL32_uc002ctp.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwq.1_Frame_Shift_Del_p.M18fs|IL32_uc002ctq.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctr.2_Frame_Shift_Del_p.M18fs|IL32_uc002ctt.2_Frame_Shift_Del_p.M18fs|IL32_uc010uwr.1_Frame_Shift_Del_p.M18fs|IL32_uc002ctu.2_Frame_Shift_Del_p.M18fs NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 18 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 AGGCCCGAATGGTAATGCTCC 0.552 NaN NaN NaN NaN NaN NaN 31 61 --- --- KAT2A 2648 broad.mit.edu 37 17 40269467 40269468 + Frame_Shift_Ins INS - - A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr17:40269467_40269468insA uc002hyx.2 - 10 1635_1636 c.1575_1576insT c.(1573-1578)AATGTCfs p.N525fs NM_021078 NP_066564 Q92830 KAT2A_HUMAN general control of amino acid synthesis 5-like 525_526 N-acetyltransferase. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity upper_aerodigestive_tract(1)|lung(1) 2 TGGGAAAAGACATTCTGCAGCC 0.644 NaN NaN NaN NaN NaN NaN 13 58 --- --- ZNF260 339324 broad.mit.edu 37 19 37005871 37005871 + Frame_Shift_Del DEL T T - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr19:37005871delT uc002oee.1 - 4 1114 c.270delA c.(268-270)AAAfs p.K90fs ZNF260_uc002oed.1_Frame_Shift_Del_p.K87fs|ZNF260_uc010eey.1_Frame_Shift_Del_p.K87fs|ZNF260_uc002oef.1_Frame_Shift_Del_p.K87fs NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 90 C2H2-type 3. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) GGCTGAAGGCTTTTCCACATT 0.393 NaN NaN NaN NaN NaN NaN 34 7 --- --- PDE9A 5152 broad.mit.edu 37 21 44108087 44108088 + Frame_Shift_Ins INS - - C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr21:44108087_44108088insC uc002zbm.2 + 3 264_265 c.201_202insC c.(199-204)ATGCCCfs p.M67fs PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Frame_Shift_Ins_p.M67fs|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Frame_Shift_Ins_p.A44fs|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Frame_Shift_Ins_p.M67fs|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Translation_Start_Site|PDE9A_uc002zca.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Frame_Shift_Ins_p.M26fs|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_Translation_Start_Site|PDE9A_uc002zcg.2_Intron NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 67_68 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 ACCCCACCATGCCCGCGAATTC 0.574 NaN NaN NaN NaN NaN NaN 50 7 --- --- FAT1 2195 broad.mit.edu 37 4 187541806 187541807 + Frame_Shift_Ins INS - - TTTAGGTGACT TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr4:187541806_187541807insTTTAGGTGACT uc003izf.2 - 10 6121_6122 c.5933_5934insAGTCACCTAAA c.(5932-5934)AAGfs p.K1978fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1978 Extracellular (Potential).|Cadherin 17. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CCTGGGTAAACTTTAGGTGACT 0.45 NaN HNSCC(5;0.00058) NaN NaN NaN NaN NaN 10 231 --- --- TRDN 10345 broad.mit.edu 37 6 123892184 123892185 + Frame_Shift_Del DEL TC TC - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chr6:123892184_123892185delTC uc003pzj.1 - 2 137_138 c.115_116delGA c.(115-117)GACfs p.D39fs TRDN_uc003pzk.1_Frame_Shift_Del_p.D39fs|TRDN_uc003pzl.1_Frame_Shift_Del_p.D39fs|TRDN_uc010ken.2_Frame_Shift_Del_p.D39fs|TRDN_uc010keo.1_Frame_Shift_Del_p.D39fs NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 39 Cytoplasmic. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) CGTCACTATGTCTTCTGTGACT 0.47 NaN NaN NaN NaN NaN NaN 29 27 --- --- ODZ1 10178 broad.mit.edu 37 X 123518470 123518496 + In_Frame_Del DEL TTCATCACTGTAGTAGTTATGACCTGA TTCATCACTGTAGTAGTTATGACCTGA - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 33a9da52-5471-456f-84cb-13c5de5b0994 59c24b21-b1e8-4752-bd0a-b48dd802643b g.chrX:123518470_123518496delTTCATCACTGTAGTAGTTATGACCTGA uc004euj.2 - 29 6328_6354 c.6264_6290delTCAGGTCATAACTACTACAGTGATGAA c.(6262-6291)AATCAGGTCATAACTACTACAGTGATGAAA>AAA p.NQVITTTVM2088del ODZ1_uc011muj.1_In_Frame_Del_p.NQVITTTVM2094del|ODZ1_uc010nqy.2_In_Frame_Del_p.NQVITTTVM2095del NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2088_2096 YD 15.|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 TTTGGTGTGTTTCATCACTGTAGTAGTTATGACCTGATTTAAATCGT 0.366 NaN NaN NaN NaN NaN NaN 8 76 --- ---