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 PRKCZ 5590 broad.mit.edu 37 1 2105377 2105377 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:2105377G>C uc001aiq.2 + 14 1488 c.1327G>C c.(1327-1329)GAG>CAG p.E443Q PRKCZ_uc001air.2_Missense_Mutation_p.E260Q|PRKCZ_uc010nyw.1_Missense_Mutation_p.E339Q|PRKCZ_uc001ais.2_Missense_Mutation_p.E260Q|PRKCZ_uc009vla.2_Missense_Mutation_p.E267Q|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Missense_Mutation_p.E291Q NM_002744 NP_002735 Q05513 KPCZ_HUMAN protein kinase C, zeta isoform 1 443 Protein kinase. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(2) 6 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CCTCATGTTTGAGATGATGGC 0.627 NaN OREG0013007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 51 84 ACTRT2 140625 broad.mit.edu 37 1 2938571 2938571 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:2938571G>A uc001ajz.2 + 1 526 c.321G>A c.(319-321)CTG>CTA p.L107L NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 107 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) ACCAGCCCCTGCTTGCAACGG 0.597 NaN 0 0 0 0.010818 0 31 49 THAP3 90326 broad.mit.edu 37 1 6688662 6688662 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:6688662C>T uc001aoc.2 + 3 337 c.178C>T c.(178-180)CGG>TGG p.R60W THAP3_uc001aod.2_Missense_Mutation_p.R60W|THAP3_uc001aoe.1_Missense_Mutation_p.R60W Q8WTV1 THAP3_HUMAN RecName: Full=THAP domain-containing protein 3; 60 THAP-type. DNA binding|metal ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CGAGCACTTCCGGCCAGAGTG 0.607 NaN 0 0 0 0.00333 0 19 24 CAMTA1 23261 broad.mit.edu 37 1 7724825 7724825 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:7724825G>A uc001aoi.2 + 9 2425 c.2218G>A c.(2218-2220)GTG>ATG p.V740M NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 740 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CCCGGGCAACGTGGTGCAGGG 0.647 NaN 0 0 0 0.013114 0 36 56 TARDBP 23435 broad.mit.edu 37 1 11078800 11078800 + Missense_Mutation SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:11078800A>C uc001art.2 + 4 547 c.413A>C c.(412-414)GAT>GCT p.D138A TARDBP_uc010oap.1_Missense_Mutation_p.D22A NM_007375 NP_031401 Q13148 TADBP_HUMAN TAR DNA binding protein 138 RRM 1. Missing: Completely abolishes RNA binding. 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) GTCAAGAAAGATCTTAAGACT 0.368 NaN 0 0 0 0.00308 0 6 137 TNFRSF8 943 broad.mit.edu 37 1 12183421 12183421 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:12183421G>C uc001atq.2 + 9 1249 c.1027G>C c.(1027-1029)GAG>CAG p.E343Q TNFRSF8_uc010obc.1_Missense_Mutation_p.E232Q|TNFRSF8_uc001atr.2_5'Flank|TNFRSF8_uc001ats.2_5'Flank NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 343 Extracellular (Potential). cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AGAGAATGGCGAGGCGCCTGC 0.652 NaN 0 0 0 0.004482 0 7 14 KDM1A 23028 broad.mit.edu 37 1 23376901 23376901 + Missense_Mutation SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:23376901A>G uc001bgi.2 + 3 688 c.539A>G c.(538-540)CAG>CGG p.Q180R KDM1A_uc001bgj.2_Missense_Mutation_p.Q200R NM_015013 NP_055828 O60341 KDM1A_HUMAN lysine-specific histone demethylase 1 isoform b 180 SWIRM. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 GCAGCTTTCCAGAGCCGACTT 0.448 NaN 0 0 0 0.010504 0 19 59 NIPAL3 57185 broad.mit.edu 37 1 24768670 24768670 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:24768670C>T uc001bjh.2 + 4 695 c.288C>T c.(286-288)TTC>TTT p.F96F NIPAL3_uc010oek.1_Silent_p.F96F|NIPAL3_uc001bjg.2_Silent_p.F96F|NIPAL3_uc009vrc.2_Silent_p.F14F NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 96 Helical; (Potential). integral to membrane 0 CCTACGCCTTCGCGCCGCTGT 0.632 NaN 0 0 0 0.01441 0 50 93 ADC 113451 broad.mit.edu 37 1 33562402 33562402 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:33562402C>T uc001bwr.2 + 9 1435 c.848C>T c.(847-849)TCG>TTG p.S283L ADC_uc001bws.2_Missense_Mutation_p.S283L|ADC_uc009vue.2_Missense_Mutation_p.S283L|ADC_uc001bwt.1_Missense_Mutation_p.S188L|ADC_uc001bwu.2_Missense_Mutation_p.S188L|ADC_uc001bwv.2_Missense_Mutation_p.S188L|ADC_uc001bww.2_Missense_Mutation_p.S188L|ADC_uc001bwx.1_Missense_Mutation_p.S260L|ADC_uc001bwz.1_Missense_Mutation_p.S283L|ADC_uc009vuf.1_Missense_Mutation_p.S125L|ADC_uc001bwy.1_Missense_Mutation_p.S132L|ADC_uc009vug.2_Missense_Mutation_p.S283L NM_052998 NP_443724 Q96A70 ADC_HUMAN ODC antizyme inhibitor-2 283 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) TACGTGACCTCGGCCTTCACT 0.587 NaN 0 0 0 0.001984 0 6 143 CSMD2 114784 broad.mit.edu 37 1 33987121 33987121 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:33987121G>A uc001bxn.1 - 67 10136 c.10107C>T c.(10105-10107)TTC>TTT p.F3369F CSMD2_uc001bxm.1_Silent_p.F3513F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3369 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) CTTGGTAGATGAAGGTGGCTC 0.577 NaN 0 0 0 0.005524 0 27 48 ZMYM6 9204 broad.mit.edu 37 1 35452810 35452810 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:35452810C>G uc001byh.2 - 16 4101 c.3873G>C c.(3871-3873)TTG>TTC p.L1291F uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Missense_Mutation_p.L1194F NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 1291 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) TTGACTCAGTCAAAGCTGAAA 0.368 NaN 0 0 0 0.006122 0 14 32 SNIP1 79753 broad.mit.edu 37 1 38003556 38003556 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:38003556G>A uc001cbi.2 - 4 1057 c.984C>T c.(982-984)ATC>ATT p.I328I SNIP1_uc010oid.1_RNA NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 328 FHA. production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) CAAGGTCAATGATGTAGGGCT 0.433 NaN 0 0 0 0.013726 0 30 52 CCDC18 343099 broad.mit.edu 37 1 93692001 93692001 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:93692001G>A uc001dpq.2 + 17 2809 c.2641G>A c.(2641-2643)GAA>AAA p.E881K CCDC18_uc009wdl.1_Missense_Mutation_p.E398K NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 762 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GAAGAAATCTGAAGAGGTAAA 0.249 NaN 0 0 0 0.004007 0 12 26 DPYD 1806 broad.mit.edu 37 1 97981460 97981460 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:97981460A>T uc001drv.2 - 13 1699 c.1562T>A c.(1561-1563)CTA>CAA p.L521Q NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 521 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AAAGAGGGGTAGTTCAGGCTT 0.388 NaN 0 0 0 0.010729 0 7 51 DPYD 1806 broad.mit.edu 37 1 98039506 98039506 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:98039506T>C uc001drv.2 - 11 1286 c.1149A>G c.(1147-1149)GAA>GAG p.E383E NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 383 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATTCACACTTTTCTTCCTTAG 0.368 NaN 0 0 0 0.007413 0 16 29 PALMD 54873 broad.mit.edu 37 1 100154591 100154591 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:100154591G>C uc001dsg.2 + 7 1218 c.775G>C c.(775-777)GAG>CAG p.E259Q PALMD_uc001dsf.2_Missense_Mutation_p.E259Q NM_017734 NP_060204 Q9NP74 PALMD_HUMAN palmdelphin 259 regulation of cell shape cytoplasm|membrane ovary(2)|pancreas(1) 3 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) AGAGTATCATGAGCCTGTATA 0.453 NaN 0 0 0 0.013114 0 37 78 COL11A1 1301 broad.mit.edu 37 1 103487275 103487275 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:103487275T>C uc001dul.2 - 9 1614 c.1296A>G c.(1294-1296)GCA>GCG p.A432A COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.A444A|COL11A1_uc001dun.2_Silent_p.A393A|COL11A1_uc009weh.2_Silent_p.A316A NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 432 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTCAACCACTGCTGGTTCTC 0.353 NaN 0 0 0 0.004878 0 26 35 POLR3C 10623 broad.mit.edu 37 1 145609263 145609263 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:145609263C>G uc001eoh.2 - 2 235 c.74G>C c.(73-75)GGA>GCA p.G25A NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.G38A|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.G25A NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide 25 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) CAGATGGACTCCAATTTTTTC 0.428 NaN 0 0 0 0.008871 0 16 72 SV2A 9900 broad.mit.edu 37 1 149884828 149884828 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:149884828C>T uc001etg.2 - 2 1056 c.565G>A c.(565-567)GTG>ATG p.V189M SV2A_uc001eth.2_Missense_Mutation_p.V189M NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 189 Helical; (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CTGGGCAGCACGAAGCCCACC 0.582 NaN 0 0 0 0.01441 0 105 87 RPTN 126638 broad.mit.edu 37 1 152129435 152129435 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:152129435C>T uc001ezs.1 - 3 205 c.140G>A c.(139-141)AGA>AAA p.R47K NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 47 S-100-like (By similarity).|EF-hand 1. proteinaceous extracellular matrix calcium ion binding 0 GTCATTTGGTCTCTGTTAGGA 0.433 NaN 0 0 0 0.010729 0 9 156 S100A9 6280 broad.mit.edu 37 1 153330787 153330787 + Missense_Mutation SNP C C T rs140601192 byFrequency TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:153330787C>T uc001fbq.2 + 2 71 c.28C>T c.(28-30)CGC>TGC p.R10C NM_002965 NP_002956 P06702 S10A9_HUMAN S100 calcium-binding protein A9 10 cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity 0 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GCAGCTGGAACGCAACATAGA 0.478 NaN 0 0 0 0.01441 0 39 105 MEX3A 92312 broad.mit.edu 37 1 156046708 156046708 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:156046708G>C uc001fnd.3 - 2 1220 c.1220C>G c.(1219-1221)TCT>TGT p.S407C NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 407 Poly-Ser. cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) ggaggaggcagaggagaagAG 0.622 NaN 0 0 0 0.000602 0 4 5 OR10K1 391109 broad.mit.edu 37 1 158435644 158435644 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:158435644C>G uc010pij.1 + 1 293 c.293C>G c.(292-294)GCC>GGC p.A98G NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CTGGGCTGTGCCATCCAAATG 0.493 NaN 0 0 0 0.001168 0 4 123 OR10X1 128367 broad.mit.edu 37 1 158549434 158549434 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:158549434C>T uc010pin.1 - 1 256 c.256G>A c.(256-258)GAG>AAG p.E86K NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 86 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TAGCAGGTCTCAGAGAAGGAG 0.498 NaN 0 0 0 0.008871 0 18 42 ASPM 259266 broad.mit.edu 37 1 197072567 197072567 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:197072567C>T uc001gtu.2 - 18 6071 c.5814G>A c.(5812-5814)AGG>AGA p.R1938R ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1938 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TACATTGCTTCCTTCCTGCAG 0.423 NaN 0 0 0 0.01441 0 59 158 MDM4 4194 broad.mit.edu 37 1 204501325 204501325 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:204501325C>G uc001hba.2 + 5 456 c.294C>G c.(292-294)CTC>CTG p.L98L MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_5'UTR|MDM4_uc001hay.1_Silent_p.L98L|MDM4_uc001hbb.2_5'UTR|MDM4_uc010pqy.1_RNA|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA NM_002393 NP_002384 O15151 MDM4_HUMAN mouse double minute 4 homolog 98 SWIB. apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) ACAGCCCTCTCTATGATATGC 0.358 NaN A GBM|bladder|retinoblastoma 0 0 0 0.012319 0 16 38 SYT14 255928 broad.mit.edu 37 1 210187104 210187104 + Nonsense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:210187104C>G uc009xcv.2 + 3 260 c.188C>G c.(187-189)TCA>TGA p.S63* SYT14_uc001hhs.3_Nonsense_Mutation_p.S108*|SYT14_uc001hht.3_Nonsense_Mutation_p.S63*|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Nonsense_Mutation_p.S108*|SYT14_uc010pso.1_Nonsense_Mutation_p.S25* NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 63 Cytoplasmic (Potential). integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) GATCTTGGTTCAGAATACAGT 0.328 NaN 0 0 0 0.004007 0 14 68 MIA3 375056 broad.mit.edu 37 1 222833629 222833629 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:222833629C>T uc001hnl.2 + 24 5095 c.5086C>T c.(5086-5088)CGA>TGA p.R1696* MIA3_uc001hnm.2_Nonsense_Mutation_p.R574* NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1696 Pro-rich.|Cytoplasmic (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) TACTCTCAATCGAAGAGATAT 0.463 NaN 0 0 0 0.004656 0 19 54 ITPKB 3707 broad.mit.edu 37 1 226827299 226827299 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:226827299C>T uc010pvo.1 - 6 2852 c.2512G>A c.(2512-2514)GAG>AAG p.E838K NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 838 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) CTGAAGGCCTCGGTGACCTGC 0.567 NaN 0 0 0 0.003954 0 16 35 NID1 4811 broad.mit.edu 37 1 236205225 236205225 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:236205225C>A uc001hxo.2 - 4 1222 c.1120G>T c.(1120-1122)GAG>TAG p.E374* NID1_uc009xgd.2_Nonsense_Mutation_p.E374* NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 374 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCTGTTTCCTCAACTTCATCC 0.512 NaN 1 0 4.39465e-27 0.013726 4.8072e-27 27 42 OR2T6 254879 broad.mit.edu 37 1 248550938 248550938 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:248550938G>C uc001iei.1 + 1 29 c.29G>C c.(28-30)AGA>ACA p.R10T NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 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) ACCTTGACCAGAGGCTTTACC 0.408 NaN 0 0 0 0.010504 0 14 62 C10orf18 54906 broad.mit.edu 37 10 5798582 5798582 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:5798582C>T uc001iij.2 + 16 7238 c.6613C>T c.(6613-6615)CTG>TTG p.L2205L C10orf18_uc001iik.2_Silent_p.L1049L NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2205 ovary(1)|central_nervous_system(1) 2 TCAGAACCTTCTGAGGAAAGG 0.338 NaN 0 0 0 0.00333 0 17 36 KIN 22944 broad.mit.edu 37 10 7829810 7829810 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:7829810C>G uc001ijt.2 - 1 135 c.87G>C c.(85-87)CAG>CAC p.Q29H KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.Q29H|KIN_uc010qba.1_5'UTR|ATP5C1_uc010qbb.1_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.2_5'Flank|ATP5C1_uc001ijv.2_5'Flank NM_012311 NP_036443 O60870 KIN17_HUMAN HsKin17 protein 29 C2H2-type. DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TCTGGCACATCTGGCAATACC 0.627 NaN 0 0 0 0.01441 0 73 117 SEPHS1 22929 broad.mit.edu 37 10 13361208 13361208 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:13361208C>G uc001imk.2 - 9 1472 c.1113G>C c.(1111-1113)CGG>CGC p.R371R SEPHS1_uc001imh.2_Silent_p.R295R|SEPHS1_uc010qbs.1_Silent_p.R323R|SEPHS1_uc001imi.2_Silent_p.R369R|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Silent_p.R304R NM_012247 NP_036379 P49903 SPS1_HUMAN selenophosphate synthetase 1 371 protein modification process ATP binding|GTP binding|selenide, water dikinase activity skin(1) 1 CCTCGATGATCCGGGGTTTGT 0.478 NaN 0 0 0 0.01441 0 79 195 PIP4K2A 5305 broad.mit.edu 37 10 22830915 22830915 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:22830915C>G uc001irl.3 - 8 1102 c.854G>C c.(853-855)AGA>ACA p.R285T PIP4K2A_uc010qcu.1_Missense_Mutation_p.R145T NM_005028 NP_005019 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 285 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding ovary(1)|skin(1) 2 CTGTTCGGCTCTCTCCACATC 0.607 NaN 0 0 0 0.004878 0 33 56 MPP7 143098 broad.mit.edu 37 10 28348590 28348590 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:28348590T>C uc001iua.1 - 16 1691 c.1287A>G c.(1285-1287)GTA>GTG p.V429V MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.V429V|MPP7_uc009xla.2_Silent_p.V429V|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 429 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 TGTTATTTTGTACATCTGTCT 0.358 NaN 0 0 0 0.009096 0 3 76 ARHGAP12 94134 broad.mit.edu 37 10 32096725 32096725 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:32096725T>C uc001ivz.1 - 20 2672 c.2402A>G c.(2401-2403)TAT>TGT p.Y801C ARHGAP12_uc001ivy.1_Missense_Mutation_p.Y747C|ARHGAP12_uc009xls.2_Missense_Mutation_p.Y752C|ARHGAP12_uc001iwb.1_Missense_Mutation_p.Y794C|ARHGAP12_uc001iwc.1_Missense_Mutation_p.Y769C|ARHGAP12_uc009xlq.1_Missense_Mutation_p.Y722C|ARHGAP12_uc001ivw.1_RNA|ARHGAP12_uc001ivx.1_Missense_Mutation_p.Y100C NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 801 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) TATACTCTGATAGGTCATTCG 0.328 NaN 0 0 0 0.00245 0 12 30 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:37431050G>C uc001iza.1 + 7 1156 c.1057G>C c.(1057-1059)GCA>CCA p.A353P NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATTTACGTGGGCAGCAAAAGG 0.408 NaN 0 0 0 0.001984 0 5 74 RET 5979 broad.mit.edu 37 10 43619223 43619223 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:43619223G>A uc001jal.2 + 17 3096 c.2906G>A c.(2905-2907)CGG>CAG p.R969Q RET_uc001jak.1_Missense_Mutation_p.R969Q|RET_uc010qez.1_Missense_Mutation_p.R715Q NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 969 Protein kinase.|Cytoplasmic (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) ACCGGCCACCGGATGGAGAGG 0.597 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 0 0 0 0.009096 0 3 84 HNRNPF 3185 broad.mit.edu 37 10 43883167 43883167 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:43883167C>G uc009xmh.1 - 3 653 c.166G>C c.(166-168)GAG>CAG p.E56Q HNRNPF_uc001jar.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jas.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jat.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jav.2_Missense_Mutation_p.E56Q|HNRNPF_uc001jau.2_Missense_Mutation_p.E56Q NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 56 RRM 1. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 ACAAAAGCCTCACCACTCTGC 0.493 NaN 0 0 0 0.010818 0 25 38 SLC18A3 6572 broad.mit.edu 37 10 50819359 50819359 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:50819359C>T uc001jhw.2 + 1 1013 c.573C>T c.(571-573)TTC>TTT p.F191F 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 191 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GCTCAGCCTTCGCCGACACGT 0.657 NaN 0 0 0 0.00308 0 6 14 PCDH15 65217 broad.mit.edu 37 10 55581763 55581763 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:55581763A>T uc001jju.1 - 33 6118 c.5723T>A c.(5722-5724)CTA>CAA p.L1908Q PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.L762Q|PCDH15_uc010qhv.1_Missense_Mutation_p.L1905Q|PCDH15_uc010qhw.1_Missense_Mutation_p.L1868Q|PCDH15_uc010qhx.1_Missense_Mutation_p.L1839Q|PCDH15_uc010qhy.1_Missense_Mutation_p.L1915Q|PCDH15_uc010qhz.1_Missense_Mutation_p.L1910Q|PCDH15_uc010qia.1_Missense_Mutation_p.L1888Q|PCDH15_uc010qib.1_Missense_Mutation_p.L1885Q NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1908 Cytoplasmic (Potential). 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) ATTTGTGCGTAGATAGTTTTT 0.358 NaN HNSCC(58;0.16) 0 0 0 0.001168 0 5 63 DLG5 9231 broad.mit.edu 37 10 79590569 79590569 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:79590569G>C uc001jzk.2 - 10 1881 c.1811C>G c.(1810-1812)TCC>TGC p.S604C DLG5_uc001jzj.2_Missense_Mutation_p.S359C|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.S208C NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 604 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CGAGTCGTGGGAGCTGTGGGC 0.567 NaN 0 0 0 0.010729 0 10 35 BTAF1 9044 broad.mit.edu 37 10 93778679 93778679 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:93778679C>T uc001khr.2 + 34 4948 c.4850C>T c.(4849-4851)TCA>TTA p.S1617L NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1617 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) CCTAAGCTCTCAGCTTTGAAA 0.353 NaN 0 0 0 0.006122 0 13 75 CNNM2 54805 broad.mit.edu 37 10 104679843 104679843 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:104679843G>C uc001kwm.2 + 1 1730 c.1606G>C c.(1606-1608)GAA>CAA p.E536Q CNNM2_uc001kwn.2_Missense_Mutation_p.E536Q|CNNM2_uc001kwl.2_Missense_Mutation_p.E536Q NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 536 CBS 2. ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CGCTATGCTGGAAGAATTTAA 0.463 NaN 0 0 0 0.012213 0 27 94 CNNM2 54805 broad.mit.edu 37 10 104814140 104814140 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:104814140C>G uc001kwm.2 + 3 1944 c.1820C>G c.(1819-1821)TCT>TGT p.S607C CNNM2_uc001kwn.2_Missense_Mutation_p.S607C NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 607 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CAAGATTTTTCTGCCTTTAAG 0.433 NaN OREG0020489 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 8 15 MKI67 4288 broad.mit.edu 37 10 129899669 129899669 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr10:129899669C>T uc001lke.2 - 14 9753 c.9558G>A c.(9556-9558)CAG>CAA p.Q3186Q MKI67_uc001lkf.2_Silent_p.Q2826Q NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 3186 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTTTCCCTTTCTGATTCTGCA 0.507 NaN 0 0 0 0.004289 0 30 73 OR52I2 143502 broad.mit.edu 37 11 4608387 4608387 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:4608387C>T uc010qyh.1 + 1 345 c.345C>T c.(343-345)TTC>TTT p.F115F NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 115 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGAGCATCTTCTGCTCAGGAG 0.512 NaN 0 0 0 0.01441 0 61 75 OR52I2 143502 broad.mit.edu 37 11 4608419 4608419 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:4608419C>G uc010qyh.1 + 1 377 c.377C>G c.(376-378)GCT>GGT p.A126G NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 126 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCTTTAGTGCTTGTTTCACT 0.517 NaN 0 0 0 0.004878 0 33 28 TRIM5 85363 broad.mit.edu 37 11 5686256 5686256 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:5686256G>A uc001mbm.1 - 8 1522 c.1265C>T c.(1264-1266)TCT>TTT p.S422F TRIM78P_uc009yer.2_Intron|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 422 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) GAAAGGAACAGAAGGAGTATG 0.398 NaN 0 0 0 0.005524 0 34 34 DNHD1 144132 broad.mit.edu 37 11 6591874 6591874 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:6591874G>C uc001mdw.3 + 42 13696 c.13132G>C c.(13132-13134)GAG>CAG p.E4378Q DNHD1_uc001mea.3_Missense_Mutation_p.E647Q|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.E646Q|DNHD1_uc010rao.1_Missense_Mutation_p.E636Q|DNHD1_uc009yfg.2_Missense_Mutation_p.E3Q NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4378 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGCAATGGCAGAGTGCAAGGC 0.617 NaN 0 0 0 0.004672 0 2 7 EIF4G2 1982 broad.mit.edu 37 11 10821737 10821737 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:10821737G>C uc001mjc.2 - 18 2436 c.2019C>G c.(2017-2019)CTC>CTG p.L673L EIF4G2_uc001mjb.2_Silent_p.L467L|EIF4G2_uc009ygf.2_Silent_p.L467L|EIF4G2_uc001mjd.2_Silent_p.L635L NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 673 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAAGTAGGAAGAGAGGAAAAT 0.413 NaN 0 0 0 0.003163 0 15 13 E2F8 79733 broad.mit.edu 37 11 19253898 19253898 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:19253898C>T uc001mpm.2 - 7 1471 c.949G>A c.(949-951)GAT>AAT p.D317N E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.D317N NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 317 Potential. cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TTAGCTATATCATACAACCTC 0.358 NaN 0 0 0 0.003271 0 30 61 PDHX 8050 broad.mit.edu 37 11 35006268 35006268 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:35006268C>G uc001mvt.2 + 9 1701 c.1175C>G c.(1174-1176)TCT>TGT p.S392C PDHX_uc010rep.1_Missense_Mutation_p.S377C|PDHX_uc010req.1_Missense_Mutation_p.S165C NM_003477 NP_003468 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 392 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity kidney(1) 1 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) ATTGCTGACTCTGTAAAGGTA 0.358 NaN 0 0 0 0.01441 0 51 111 LRP4 4038 broad.mit.edu 37 11 46914632 46914632 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:46914632G>A uc001ndn.3 - 13 1735 c.1589C>T c.(1588-1590)TCA>TTA p.S530L NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 530 Extracellular (Potential).|LDL-receptor class B 2. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CGAGGTGCCTGAGTCGGTCCA 0.592 NaN 0 0 0 0.004007 0 8 33 FNBP4 23360 broad.mit.edu 37 11 47754150 47754150 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:47754150C>T uc009ylv.2 - 11 1912 c.1759G>A c.(1759-1761)GAA>AAA p.E587K FNBP4_uc001ngj.2_Missense_Mutation_p.E494K|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 587 ovary(1) 1 TTTAGTTGTTCTGCTGCATCC 0.443 NaN 0 0 0 0.00632 0 28 63 OR4C3 256144 broad.mit.edu 37 11 48346641 48346641 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:48346641G>C uc010rhv.1 + 1 149 c.149G>C c.(148-150)AGA>ACA p.R50T NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 23 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GAGGTACAGAGAGTTCTCTTT 0.478 NaN 0 0 0 0.007835 0 32 52 OR5M11 219487 broad.mit.edu 37 11 56310058 56310058 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:56310058G>A uc010rjl.1 - 1 676 c.676C>T c.(676-678)CGG>TGG p.R226W NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GATTTGATCCGGAGGATGGCA 0.493 NaN 0 0 0 0.003954 0 23 48 TMX2 51075 broad.mit.edu 37 11 57480128 57480128 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:57480128C>T uc001nlc.1 + 1 87 c.38C>T c.(37-39)TCG>TTG p.S13L CTNND1_uc001nlf.1_5'UTR|MED19_uc001nla.1_5'Flank|MED19_uc001nlb.2_5'Flank|TMX2_uc001nld.1_5'UTR|TMX2_uc001nle.1_Missense_Mutation_p.S13L NM_015959 NP_057043 Q9Y320 TMX2_HUMAN thioredoxin domain containing 14 isoform 1 13 cell redox homeostasis integral to membrane 0 CTCGTGTATTCGGTGCCGCGA 0.622 NaN 0 0 0 0.003163 0 10 31 VEGFB 7423 broad.mit.edu 37 11 64002948 64002948 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:64002948G>A uc001nyw.2 + 2 119 c.79G>A c.(79-81)GAT>AAT p.D27N VEGFB_uc001nyx.2_Missense_Mutation_p.D27N NM_003377 NP_003368 P49765 VEGFB_HUMAN vascular endothelial growth factor B precursor 27 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding 0 CTCCCAGCCTGATGCCCCTGG 0.552 NaN 0 0 0 0.007291 0 23 49 PYGM 5837 broad.mit.edu 37 11 64514251 64514251 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:64514251G>A uc001oax.3 - 20 3226 c.2409C>T c.(2407-2409)ATC>ATT p.I803I RASGRP2_uc009ypu.2_5'Flank|RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Silent_p.I715I NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 803 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CTATGTTCCGGATCACCATCC 0.607 NaN 0 0 0 0.01441 0 41 58 FOSL1 8061 broad.mit.edu 37 11 65664326 65664326 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:65664326C>A uc001ogg.1 - 2 438 c.251G>T c.(250-252)CGG>CTG p.R84L FOSL1_uc010ros.1_Intron NM_005438 NP_005429 P15407 FOSL1_HUMAN FOS-like antigen 1 84 cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 READ - Rectum adenocarcinoma(159;0.168) CCCCAGGGCCCGGATGACTCC 0.647 NaN 1 0 4.7796e-09 0.004656 5.04305e-09 22 64 DPP3 10072 broad.mit.edu 37 11 66272178 66272178 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:66272178C>T uc001oig.1 + 17 2036 c.1974C>T c.(1972-1974)CTC>CTT p.L658L DPP3_uc001oif.1_Silent_p.L658L|DPP3_uc010rpe.1_Silent_p.L647L|DPP3_uc001oih.1_Missense_Mutation_p.S26L NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 658 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 TCCTCACCCTCAGGGACACGG 0.597 NaN 0 0 0 0.00632 0 24 91 CABP4 57010 broad.mit.edu 37 11 67223206 67223206 + Silent SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:67223206G>T uc001olo.2 + 1 389 c.312G>T c.(310-312)CTG>CTT p.L104L CABP4_uc001oln.2_5'UTR NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 104 visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CTGACTCCCTGCACGACGCTG 0.677 NaN 1 0 2.56e-06 0.009096 2.65408e-06 3 22 CABP2 51475 broad.mit.edu 37 11 67287568 67287568 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:67287568G>C uc001omc.1 - 5 545 c.443C>G c.(442-444)ACG>AGG p.T148R CABP2_uc001omd.1_Missense_Mutation_p.T91R|CABP2_uc001ome.1_Missense_Mutation_p.T154R NM_016366 NP_057450 Q9NPB3 CABP2_HUMAN calcium binding protein 2 isoform 1 148 signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 CATGTCTGCCGTCTCTGCCAG 0.657 NaN 0 0 0 0.010504 0 16 68 ALDH3B1 221 broad.mit.edu 37 11 67789327 67789327 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:67789327G>A uc010rpy.1 + 9 1053 c.937G>A c.(937-939)GAT>AAT p.D313N ALDH3B1_uc001omz.2_Missense_Mutation_p.D313N|ALDH3B1_uc001ona.2_Missense_Mutation_p.D276N|ALDH3B1_uc001onb.2_RNA NM_001161473 NP_001154945 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3B1 isoform a 313 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase 0 NADH(DB00157) CGATGAGAGCGATCGCTACAT 0.657 NaN 0 0 0 0.01441 0 44 46 FOLR3 2352 broad.mit.edu 37 11 71850770 71850770 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:71850770G>C uc001ory.1 + 5 809 c.759G>C c.(757-759)CAG>CAC p.Q253H FOLR3_uc001orx.1_Missense_Mutation_p.Q211H P41439 FOLR3_HUMAN SubName: Full=FOLR3 protein; Flags: Fragment; 209 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity 0 Folic Acid(DB00158) GCTGCATCCAGATGTGGTTTG 0.577 NaN 0 0 0 0.010729 0 11 51 ANKRD42 338699 broad.mit.edu 37 11 82938902 82938902 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:82938902C>G uc001ozz.1 + 7 1239 c.817C>G c.(817-819)CCT>GCT p.P273A ANKRD42_uc010rsv.1_Missense_Mutation_p.P301A|ANKRD42_uc001paa.2_Missense_Mutation_p.P301A|ANKRD42_uc001pab.1_Missense_Mutation_p.P300A NM_182603 NP_872409 Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 273 ANK 8. skin(1) 1 TGGATCAACTCCTATGCATAA 0.373 NaN 0 0 0 0.009718 0 35 101 CCDC83 220047 broad.mit.edu 37 11 85630484 85630484 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:85630484C>G uc001pbh.1 + 11 1685 c.1173C>G c.(1171-1173)GTC>GTG p.V391V CCDC83_uc001pbg.1_Silent_p.V422V|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Silent_p.V291V NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 391 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AAATTCCAGTCAAACTCTATA 0.413 NaN 0 0 0 0.006122 0 16 39 TYR 7299 broad.mit.edu 37 11 88924428 88924428 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:88924428C>T uc001pcs.2 + 2 960 c.878C>T c.(877-879)CCC>CTC p.P293L NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 293 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) AATGGAACGCCCGAGGGACCT 0.473 NaN Oculocutaneous_Albinism 0 0 0 0.00623 0 34 79 JRKL 8690 broad.mit.edu 37 11 96124929 96124929 + Silent SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:96124929A>G uc009ywu.2 + 2 1368 c.1116A>G c.(1114-1116)GCA>GCG p.A372A CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Silent_p.A372A NM_003772 NP_003763 Q9Y4A0 JERKL_HUMAN jerky homolog-like 372 DDE. central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) TAGCAATGGCATGGAACTTAG 0.408 NaN 0 0 0 0.000602 0 3 134 PDGFD 80310 broad.mit.edu 37 11 104034599 104034599 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:104034599C>T uc001phq.2 - 1 429 c.57G>A c.(55-57)CGG>CGA p.R19R PDGFD_uc001php.2_Silent_p.R19R NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 19 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) CAGAAGTGTCCCGACAGCTGC 0.488 NaN OREG0021315 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 5 34 KBTBD3 143879 broad.mit.edu 37 11 105924026 105924026 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:105924026C>G uc001pja.2 - 4 2030 c.1390G>C c.(1390-1392)GAG>CAG p.E464Q KBTBD3_uc001pjb.2_Missense_Mutation_p.E464Q|KBTBD3_uc009yxm.2_Missense_Mutation_p.E385Q NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 460 Kelch 4. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TCTGTAATCTCTACCTCTGAT 0.373 NaN 0 0 0 0.00632 0 25 28 ATM 472 broad.mit.edu 37 11 108236064 108236064 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:108236064G>C uc001pkb.1 + 63 9385 c.9000G>C c.(8998-9000)CAG>CAC p.Q3000H ATM_uc009yxr.1_Missense_Mutation_p.Q3000H|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.Q1652H NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 3000 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) ATATTGACCAGAGTTTCAACA 0.403 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 0.014323 0 15 60 ATM 472 broad.mit.edu 37 11 108236083 108236083 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:108236083G>A uc001pkb.1 + 63 9404 c.9019G>A c.(9019-9021)GAA>AAA p.E3007K ATM_uc009yxr.1_Missense_Mutation_p.E3007K|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E1659K NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 3007 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) CAAAGTAGCTGAACGTGTCTT 0.413 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 0.007291 0 17 65 ATM 472 broad.mit.edu 37 11 108236128 108236128 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:108236128G>T uc001pkb.1 + 63 9449 c.9064G>T c.(9064-9066)GAA>TAA p.E3022* ATM_uc009yxr.1_Nonsense_Mutation_p.E3022*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E1674* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 3022 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) AGGAGTGGAAGAAGGCACTGT 0.433 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) 1 0 3.01185e-09 0.003954 3.18412e-09 17 59 ATM 472 broad.mit.edu 37 11 108236160 108236160 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:108236160G>A uc001pkb.1 + 63 9481 c.9096G>A c.(9094-9096)GTG>GTA p.V3032V ATM_uc009yxr.1_Silent_p.V3032V|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.V1684V NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 3032 FATC. 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) GTGGACAAGTGAATTTGCTCA 0.443 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 0.00499 0 12 41 ARHGAP20 57569 broad.mit.edu 37 11 110582892 110582892 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:110582892C>T uc001pkz.1 - 2 348 c.63G>A c.(61-63)CTG>CTA p.L21L ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 21 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) ACACTCCTGTCAGGGAAGAGG 0.473 NaN 0 0 0 0.006214 0 7 13 ZW10 9183 broad.mit.edu 37 11 113608339 113608339 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:113608339G>C uc001poe.2 - 14 2008 c.1971C>G c.(1969-1971)CTC>CTG p.L657L ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 657 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TTGCTGTATTGAGTAAAGTCC 0.433 NaN 0 0 0 0.01441 0 38 92 DSCAML1 57453 broad.mit.edu 37 11 117306394 117306394 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:117306394C>T uc001prh.1 - 27 5024 c.5022G>A c.(5020-5022)AAG>AAA p.K1674K NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1614 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCTTCCTCTTCTTGCGTACGA 0.597 NaN 0 0 0 0.003954 0 21 54 GRAMD1B 57476 broad.mit.edu 37 11 123448178 123448178 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:123448178G>C uc001pyx.2 + 2 456 c.127G>C c.(127-129)GAG>CAG p.E43Q GRAMD1B_uc001pyw.2_Missense_Mutation_p.E43Q|GRAMD1B_uc010rzw.1_Missense_Mutation_p.E3Q|GRAMD1B_uc010rzx.1_Missense_Mutation_p.E3Q|GRAMD1B_uc009zbe.1_Missense_Mutation_p.E39Q NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 43 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CACCATGGTGGAGAAGGGCTC 0.677 NaN OREG0021454 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001168 0 5 6 C11orf61 79684 broad.mit.edu 37 11 124637361 124637361 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:124637361T>C uc001qba.1 - 4 1414 c.1391A>G c.(1390-1392)CAG>CGG p.Q464R C11orf61_uc001qaz.1_Missense_Mutation_p.Q412R|C11orf61_uc010sap.1_Missense_Mutation_p.Q184R|C11orf61_uc001qay.1_Missense_Mutation_p.Q234R NM_024631 NP_078907 Q6P1R3 CK061_HUMAN hypothetical protein LOC79684 464 0 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079) TATTTCCACCTGTAATGAGGC 0.498 NaN 0 0 0 0.004672 0 3 134 CDON 50937 broad.mit.edu 37 11 125859579 125859579 + Missense_Mutation SNP T T G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:125859579T>G uc009zbw.2 - 15 2854 c.2726A>C c.(2725-2727)GAA>GCA p.E909A CDON_uc001qdb.3_Missense_Mutation_p.E286A|CDON_uc001qdc.3_Missense_Mutation_p.E909A NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 909 Extracellular (Potential).|Fibronectin type-III 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TTCTCCTCCTTCATTGAAGCA 0.403 NaN 0 0 0 0.001168 0 5 110 ARHGAP32 9743 broad.mit.edu 37 11 128839034 128839034 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:128839034C>A uc009zcp.2 - 22 6032 c.6032G>T c.(6031-6033)GGC>GTC p.G2011V ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.G970V|ARHGAP32_uc001qez.2_Missense_Mutation_p.G1662V NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 2011 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 CTGGCGCTTGCCGTGTGGTTG 0.572 NaN 1 0 6.44725e-10 0.014323 6.8566e-10 19 55 IGSF9B 22997 broad.mit.edu 37 11 133816031 133816031 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr11:133816031A>T uc001qgx.3 - 2 418 c.187T>A c.(187-189)TTC>ATC p.F63I IGSF9B_uc001qgz.2_RNA NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 63 Extracellular (Potential).|Ig-like 1. integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCGAACTTGAACCACTCTACG 0.612 NaN 0 0 0 0.00245 0 13 21 CACNA1C 775 broad.mit.edu 37 12 2788756 2788756 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:2788756G>A uc009zdu.1 + 44 5695 c.5382G>A c.(5380-5382)GAG>GAA p.E1794E CACNA1C_uc009zdv.1_Silent_p.E1743E|CACNA1C_uc001qkb.2_Silent_p.E1746E|CACNA1C_uc001qkc.2_Silent_p.E1765E|CACNA1C_uc001qke.2_Silent_p.E1735E|CACNA1C_uc001qkf.2_Silent_p.E1754E|CACNA1C_uc001qjz.2_Silent_p.E1746E|CACNA1C_uc001qkd.2_Silent_p.E1765E|CACNA1C_uc001qkg.2_Silent_p.E1752E|CACNA1C_uc009zdw.1_Silent_p.E1787E|CACNA1C_uc001qkh.2_Silent_p.E1754E|CACNA1C_uc001qkl.2_Silent_p.E1794E|CACNA1C_uc001qkn.2_Silent_p.E1746E|CACNA1C_uc001qko.2_Silent_p.E1766E|CACNA1C_uc001qkp.2_Silent_p.E1746E|CACNA1C_uc001qkr.2_Silent_p.E1763E|CACNA1C_uc001qku.2_Silent_p.E1746E|CACNA1C_uc001qkq.2_Silent_p.E1774E|CACNA1C_uc001qks.2_Silent_p.E1746E|CACNA1C_uc001qkt.2_Silent_p.E1765E|CACNA1C_uc001qki.1_Silent_p.E1482E|CACNA1C_uc001qkj.1_Silent_p.E1482E|CACNA1C_uc001qkk.1_Silent_p.E1482E|CACNA1C_uc001qkm.1_Silent_p.E1471E|CACNA1C_uc010sea.1_Silent_p.E437E|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.E64E NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1794 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CATCCCACGAGAAGCTGGTGG 0.657 NaN 0 0 0 0.013537 0 11 24 CLEC4C 170482 broad.mit.edu 37 12 7883463 7883463 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:7883463C>T uc001qtg.1 - 5 601 c.427G>A c.(427-429)GGG>AGG p.G143R CLEC4C_uc001qth.1_Missense_Mutation_p.G143R|CLEC4C_uc001qti.1_Missense_Mutation_p.G112R NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 143 Extracellular (Potential).|C-type lectin. innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) TCTGACAGCCCCAGAAAATAA 0.378 NaN 0 0 0 0.005524 0 33 76 SLCO1C1 53919 broad.mit.edu 37 12 20874807 20874807 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:20874807G>T uc001rej.3 + 9 1200 c.845G>T c.(844-846)GGA>GTA p.G282V SLCO1C1_uc010sii.1_Missense_Mutation_p.G282V|SLCO1C1_uc010sij.1_Missense_Mutation_p.G233V|SLCO1C1_uc009zip.2_Missense_Mutation_p.G116V|SLCO1C1_uc001rei.2_Missense_Mutation_p.G282V|SLCO1C1_uc010sik.1_Missense_Mutation_p.G164V NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 282 Helical; Name=6; (Potential). 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) CTAATAGCAGGAATCATAAGT 0.438 NaN 1 0 8.34094e-07 0.008871 8.69794e-07 19 31 SLCO1B1 10599 broad.mit.edu 37 12 21355522 21355522 + Silent SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:21355522A>G uc001req.3 + 10 1337 c.1233A>G c.(1231-1233)TCA>TCG p.S411S NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 411 Helical; Name=9; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CCAAATTCTCATGTTTTACTG 0.343 NaN 0 0 0 0.004007 0 16 23 C12orf72 254013 broad.mit.edu 37 12 31820829 31820829 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:31820829C>T uc009zjr.2 + 4 903 c.694C>T c.(694-696)CAC>TAC p.H232Y C12orf72_uc001rkl.2_Missense_Mutation_p.H232Y|C12orf72_uc001rkm.2_Missense_Mutation_p.H232Y NM_001135864 NP_001129336 Q8IXQ9 MET20_HUMAN hypothetical protein LOC254013 232 cytoplasm protein methyltransferase activity 0 CATTCAGCATCACCTGCACAA 0.488 NaN 0 0 0 0.006999 0 30 59 LMBR1L 55716 broad.mit.edu 37 12 49498238 49498238 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:49498238G>A uc001rth.3 - 5 770 c.428C>T c.(427-429)TCC>TTC p.S143F LMBR1L_uc001rtg.3_Missense_Mutation_p.S138F|LMBR1L_uc001rti.3_Missense_Mutation_p.S143F|LMBR1L_uc001rtj.1_5'Flank|LMBR1L_uc009zld.1_Missense_Mutation_p.S16F|LMBR1L_uc010smf.1_RNA NM_018113 NP_060583 Q6UX01 LMBRL_HUMAN lipocalin-interacting membrane receptor 143 Cytoplasmic (Potential). endocytosis integral to membrane|plasma membrane receptor activity pancreas(1) 1 TACCTTTCTGGAGCCAGCAAA 0.299 NaN 0 0 0 0.01441 0 54 132 BCDIN3D 144233 broad.mit.edu 37 12 50232586 50232586 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:50232586G>A uc001rvh.2 - 2 489 c.447C>T c.(445-447)TTC>TTT p.F149F LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA NM_181708 NP_859059 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 149 Bin3-type SAM. methyltransferase activity ovary(1) 1 ATTGGCTTAAGAAAGAGCTCA 0.443 NaN OREG0021805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003954 0 21 47 GRASP 160622 broad.mit.edu 37 12 52403023 52403023 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:52403023G>A uc001rzo.1 + 2 352 c.296G>A c.(295-297)CGG>CAG p.R99Q GRASP_uc001rzp.1_5'Flank NM_181711 NP_859062 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 99 cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.0967) GAACAGCAGCGGTGAGTCACC 0.597 NaN 0 0 0 0.00623 0 37 75 KRT2 3849 broad.mit.edu 37 12 53045825 53045825 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:53045825C>G uc001sat.2 - 1 135 c.102G>C c.(100-102)CGG>CGC p.R34R NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 34 Head. 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) AAGTTGATCTCCGGCTTCCAC 0.522 NaN 0 0 0 0.00245 0 10 20 RARG 5916 broad.mit.edu 37 12 53621231 53621231 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:53621231G>A uc001sce.2 - 3 584 c.99C>T c.(97-99)CTC>CTT p.L33L RARG_uc001scf.2_Silent_p.L33L|RARG_uc001scg.2_Intron|RARG_uc010soc.1_Intron NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 33 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GAGACCCCCTGAGTGCCCCTG 0.647 NaN 0 0 0 0.001984 0 6 14 STAC3 246329 broad.mit.edu 37 12 57637672 57637672 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:57637672C>A uc001snp.2 - 12 1213 c.1018G>T c.(1018-1020)GAA>TAA p.E340* STAC3_uc009zpl.2_Missense_Mutation_p.R57L|STAC3_uc001snq.2_Nonsense_Mutation_p.E301*|STAC3_uc010srm.1_Nonsense_Mutation_p.E154* NM_145064 NP_659501 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 340 SH3 2. intracellular signal transduction identical protein binding|metal ion binding ovary(2)|skin(1) 3 CCGCCCGCTTCGTCTCCTTTC 0.562 NaN OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 8.12818e-05 0.001984 8.33022e-05 5 16 NAV3 89795 broad.mit.edu 37 12 78515755 78515755 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:78515755C>G uc001syp.2 + 16 3958 c.3785C>G c.(3784-3786)TCT>TGT p.S1262C NAV3_uc001syo.2_Missense_Mutation_p.S1262C|NAV3_uc010sub.1_Missense_Mutation_p.S762C|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1262 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAATCTGCCTCTGCACCTAAT 0.463 NaN HNSCC(70;0.22) 0 0 0 0.004007 0 12 35 PPFIA2 8499 broad.mit.edu 37 12 81741427 81741427 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:81741427G>T uc001szo.1 - 18 2278 c.2117C>A c.(2116-2118)GCC>GAC p.A706D PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 632 ovary(3)|lung(2)|pancreas(1) 6 TGTAACAGAGGCAGTAATGGA 0.532 NaN 1 0 7.07328e-35 0.01441 7.81707e-35 64 103 STAB2 55576 broad.mit.edu 37 12 104044296 104044296 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:104044296G>A uc001tjw.2 + 11 1383 c.1197G>A c.(1195-1197)CTG>CTA p.L399L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 399 Extracellular (Potential).|FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCTGGCCACTGAGTAAGCTGG 0.448 NaN 0 0 0 0.00499 0 14 37 OAS3 4940 broad.mit.edu 37 12 113388756 113388756 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:113388756C>G uc001tug.2 + 7 1720 c.1633C>G c.(1633-1635)CTG>GTG p.L545V NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 545 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 GGATGTTAGCCTGCTGCCTGC 0.617 NaN 0 0 0 0.008871 0 16 34 TBX3 6926 broad.mit.edu 37 12 115118866 115118866 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:115118866C>G uc001tvt.1 - 2 1439 c.475G>C c.(475-477)GAT>CAT p.D159H TBX3_uc001tvu.1_Missense_Mutation_p.D159H|TBX3_uc010syw.1_Missense_Mutation_p.D159H NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 159 T-box; first part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CGACAGTCATCAGCAGCTATA 0.438 NaN 0 0 0 0.004289 0 32 92 DNAH10 196385 broad.mit.edu 37 12 124401030 124401030 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr12:124401030C>T uc001uft.3 + 62 10420 c.10395C>T c.(10393-10395)TTC>TTT p.F3465F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3465 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACCCTGACTTCCTCAAGCAGC 0.478 NaN 0 0 0 0.01441 0 53 78 PIBF1 10464 broad.mit.edu 37 13 73409499 73409499 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:73409499G>C uc001vjc.2 + 9 1521 c.1216G>C c.(1216-1218)GAA>CAA p.E406Q PIBF1_uc001vja.1_Missense_Mutation_p.E406Q|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.E406Q|PIBF1_uc010aep.2_5'UTR NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 406 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GTATGAACGAGAAAACAGGTA 0.269 NaN 0 0 0 0.003954 0 18 48 MYCBP2 23077 broad.mit.edu 37 13 77714227 77714227 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:77714227C>T uc001vkf.2 - 52 7450 c.7359G>A c.(7357-7359)CAG>CAA p.Q2453Q MYCBP2_uc010aev.2_Silent_p.Q1857Q NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTATGCCTATCTGCTCACTCT 0.423 NaN 0 0 0 0.008291 0 10 36 FARP1 10160 broad.mit.edu 37 13 99047670 99047670 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:99047670G>A uc001vnj.2 + 13 1690 c.1354G>A c.(1354-1356)GAG>AAG p.E452K FARP1_uc001vnh.2_Missense_Mutation_p.E452K NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 452 Poly-Glu. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GGAGGAAGAGGAGGAGGTCGT 0.687 NaN 0 0 0 0.00499 0 15 22 ITGBL1 9358 broad.mit.edu 37 13 102359164 102359164 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:102359164C>G uc001vpb.2 + 9 1410 c.1191C>G c.(1189-1191)CTC>CTG p.L397L ITGBL1_uc010agb.2_Silent_p.L348L|ITGBL1_uc001vpc.3_Silent_p.L256L NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 397 VIII.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGGAAAGCTCTGCCAACATC 0.498 NaN 0 0 0 0.008291 0 7 54 COL4A2 1284 broad.mit.edu 37 13 111117923 111117923 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr13:111117923C>T uc001vqx.2 + 25 2237 c.1948C>T c.(1948-1950)CCT>TCT p.P650S NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 650 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCTGGGCCCTCCTGGCCCCGC 0.587 NaN 0 0 0 0.010729 0 9 18 PARP2 10038 broad.mit.edu 37 14 20824776 20824776 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:20824776G>A uc001vxc.2 + 13 1324 c.1296G>A c.(1294-1296)ATG>ATA p.M432I PARP2_uc001vxd.2_Missense_Mutation_p.M419I|PARP2_uc001vxb.1_Missense_Mutation_p.M432I|PARP2_uc010tle.1_Missense_Mutation_p.M182I NM_005484 NP_005475 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase family, member 2 432 PARP catalytic. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity ovary(1)|pancreas(1) 2 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) GTTCCAGGATGAGTAACTGGG 0.468 NaN Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 0 0 0 0.01441 0 57 185 TEP1 7011 broad.mit.edu 37 14 20848600 20848600 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:20848600G>A uc001vxe.2 - 34 4837 c.4797C>T c.(4795-4797)CCC>CCT p.P1599P TEP1_uc010ahk.2_Silent_p.P942P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.P1491P|TEP1_uc010tlh.1_5'UTR NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1599 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CGTCAGCCTCGGGGAGCTTTT 0.587 NaN 0 0 0 0.001984 0 5 36 ACIN1 22985 broad.mit.edu 37 14 23533582 23533582 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:23533582G>A uc001wit.3 - 11 2926 c.2598C>T c.(2596-2598)ATC>ATT p.I866I ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Silent_p.I108I|ACIN1_uc001wiq.3_Silent_p.I108I|ACIN1_uc001wir.3_Silent_p.I139I|ACIN1_uc001wis.3_Silent_p.I547I|ACIN1_uc010akg.2_Silent_p.I865I NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 866 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) ATTCAGTGGTGATACTGATGG 0.587 NaN 0 0 0 0.01441 0 60 113 HECTD1 25831 broad.mit.edu 37 14 31611068 31611068 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:31611068C>T uc001wrc.1 - 18 3358 c.2869G>A c.(2869-2871)GAA>AAA p.E957K HECTD1_uc001wrd.1_Missense_Mutation_p.E472K NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 957 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTTTACCTTTCATCATCTTCA 0.294 NaN 0 0 0 0.001168 0 6 10 RALGAPA1 253959 broad.mit.edu 37 14 36128344 36128344 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:36128344C>A uc001wti.2 - 27 4260 c.3869G>T c.(3868-3870)CGA>CTA p.R1290L RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.R1290L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.R1303L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R1337L NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1290 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 TCCGACCTACCGTGCAGGACC 0.368 NaN 1 0 1.60099e-16 0.004878 1.72662e-16 27 21 POLE2 5427 broad.mit.edu 37 14 50118022 50118022 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:50118022G>A uc001wwu.2 - 16 1299 c.1285C>T c.(1285-1287)CGT>TGT p.R429C SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Missense_Mutation_p.R143C|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Missense_Mutation_p.R144C NM_002692 NP_002683 P56282 DPOE2_HUMAN DNA-directed DNA polymerase epsilon 2 429 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity ovary(1)|skin(1) 2 all_epithelial(31;0.0021)|Breast(41;0.0124) CTAGGAAAACGGACGCAGTTT 0.328 NaN 0 0 0 0.001168 0 3 37 SOS2 6655 broad.mit.edu 37 14 50585132 50585132 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:50585132T>C uc001wxs.3 - 23 4027 c.3929A>G c.(3928-3930)TAC>TGC p.Y1310C SOS2_uc010ans.2_Missense_Mutation_p.Y145C|SOS2_uc010tql.1_Missense_Mutation_p.Y1277C|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1310 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) CTCCCGTTTGTAAGTCTTTGG 0.483 NaN 0 0 0 0.00874 0 35 37 VASH1 22846 broad.mit.edu 37 14 77242469 77242469 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:77242469G>A uc001xst.2 + 5 1695 c.765G>A c.(763-765)AAG>AAA p.K255K NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 255 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) ACGTGCTCAAGAAGGTGAAGC 0.677 NaN 0 0 0 0.00308 0 5 13 GALC 2581 broad.mit.edu 37 14 88459326 88459326 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:88459326G>A uc001xvt.2 - 1 582 c.183C>T c.(181-183)GTC>GTT p.V61V GALC_uc010tvx.1_Intron|GALC_uc010tvy.1_Silent_p.V61V|GALC_uc010tvz.1_5'Flank|GALC_uc001xvu.1_Silent_p.V61V NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 61 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 CGCCGCCGCTGACCGCGCCGA 0.776 NaN 0 0 0 0.004482 0 5 3 TRIP11 9321 broad.mit.edu 37 14 92471337 92471337 + Nonsense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:92471337G>A uc001xzy.2 - 11 3771 c.2983C>T c.(2983-2985)CAA>TAA p.Q995* TRIP11_uc010auf.1_Nonsense_Mutation_p.Q731* NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 995 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTTGTTTCTTGAAAAATATCA 0.323 NaN T PDGFRB AML 0 0 0 0.000602 0 5 24 AK7 122481 broad.mit.edu 37 14 96924468 96924468 + Missense_Mutation SNP G G C rs149622950 by1000genomes TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:96924468G>C uc001yfn.2 + 12 1320 c.1276G>C c.(1276-1278)GAA>CAA p.E426Q NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 426 Adenylate kinase.|Potential.|Poly-Glu. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) agaagaagtcgaagaggaaga 0.393 NaN 0 0 0 0.006122 0 18 20 AHNAK2 113146 broad.mit.edu 37 14 105407021 105407021 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:105407021C>G uc010axc.1 - 7 14887 c.14767G>C c.(14767-14769)GAA>CAA p.E4923Q AHNAK2_uc001ypx.2_Missense_Mutation_p.E4823Q NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4923 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) ACAAGCTCTTCTGGGCCCTGA 0.587 NaN 0 0 0 0.008291 0 11 57 CYFIP1 23191 broad.mit.edu 37 15 22925788 22925788 + Silent SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:22925788G>T uc001yus.2 + 2 110 c.6G>T c.(4-6)GCG>GCT p.A2A CYFIP1_uc001yut.2_Silent_p.A2A|CYFIP1_uc010aya.1_Silent_p.A60A NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 2 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CCAGGATGGCGGCCCAGGTGA 0.647 NaN 1 0 0.000151284 0.001855 0.000154161 10 9 MAP1A 4130 broad.mit.edu 37 15 43819552 43819552 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:43819552G>A uc001zrt.2 + 4 6348 c.5881G>A c.(5881-5883)GAT>AAT p.D1961N NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1961 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ACCCTATCCTGATGAGAGAAG 0.562 NaN 0 0 0 0.008361 0 23 68 MAP1A 4130 broad.mit.edu 37 15 43820098 43820098 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:43820098G>T uc001zrt.2 + 4 6894 c.6427G>T c.(6427-6429)GAG>TAG p.E2143* NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2143 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCCAGAAACTGAGGCACATGT 0.592 NaN 1 0 2.00529e-23 0.00333 2.18908e-23 19 87 MAP1A 4130 broad.mit.edu 37 15 43821274 43821274 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:43821274G>A uc001zrt.2 + 4 8070 c.7603G>A c.(7603-7605)GAA>AAA p.E2535K NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2535 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CGACTCAGATGAAGATGGAGA 0.587 NaN 0 0 0 0.01441 0 37 160 TRIM69 140691 broad.mit.edu 37 15 45047506 45047506 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:45047506G>C uc001zuf.2 + 3 1310 c.415G>C c.(415-417)GAT>CAT p.D139H TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.D139H|TRIM69_uc001zuh.1_Intron NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 139 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) TCAATGCAAGGATGCTCGGTT 0.507 NaN 0 0 0 0.004289 0 30 36 SEMA6D 80031 broad.mit.edu 37 15 48056959 48056959 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:48056959G>A uc010bek.2 + 12 1582 c.1222G>A c.(1222-1224)GAT>AAT p.D408N SEMA6D_uc001zvw.2_Missense_Mutation_p.D408N|SEMA6D_uc001zvx.1_Missense_Mutation_p.D408N|SEMA6D_uc001zvy.2_Missense_Mutation_p.D408N|SEMA6D_uc001zvz.2_Missense_Mutation_p.D408N|SEMA6D_uc001zwa.2_Missense_Mutation_p.D408N|SEMA6D_uc001zwb.2_Missense_Mutation_p.D408N|SEMA6D_uc001zwc.2_Missense_Mutation_p.D408N NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 408 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ACCCATTGCCGATGAGCCCTG 0.502 NaN 0 0 0 0.000602 0 4 52 SLC12A1 6557 broad.mit.edu 37 15 48548007 48548007 + Splice_Site SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:48548007G>A uc001zwn.3 + 16 2159 c.1943_splice c.e16-1 p.D648_splice SLC12A1_uc010uew.1_Splice_Site_p.D454_splice|SLC12A1_uc010bem.2_Splice_Site_p.D648_splice|SLC12A1_uc001zwq.3_Splice_Site_p.D419_splice|SLC12A1_uc001zwr.3_Splice_Site_p.D375_splice NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TTTATCCACAGATGTGAACTG 0.423 NaN 0 0 0 0.009096 0 3 10 PRTG 283659 broad.mit.edu 37 15 55912272 55912272 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:55912272G>T uc002adg.2 - 20 3439 c.3391C>A c.(3391-3393)CAT>AAT p.H1131N NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 1131 multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TTGGACTCATGAGAAAACCGC 0.483 NaN 1 0 1.36615e-20 0.013726 1.48832e-20 30 44 ALDH1A2 8854 broad.mit.edu 37 15 58357784 58357784 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:58357784G>A uc002aex.2 - 1 123 c.65C>T c.(64-66)TCG>TTG p.S22L ALDH1A2_uc002aey.2_Missense_Mutation_p.S22L|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 22 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GAGGTGCAGCGACGCCATGAG 0.662 NaN 0 0 0 0.001855 0 10 17 HERC1 8925 broad.mit.edu 37 15 63920999 63920999 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:63920999T>C uc002amp.2 - 70 13130 c.12982A>G c.(12982-12984)ACC>GCC p.T4328A NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4328 RCC1 14. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 ACATGGTTGGTATGGCCTAAG 0.468 NaN 0 0 0 0.01441 0 47 99 ANKDD1A 348094 broad.mit.edu 37 15 65209672 65209672 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:65209672G>A uc002aoa.2 + 3 255 c.226G>A c.(226-228)GAG>AAG p.E76K ANKDD1A_uc002anx.1_Missense_Mutation_p.E76K|ANKDD1A_uc002any.2_5'UTR|ANKDD1A_uc002anz.2_Intron|ANKDD1A_uc002aob.2_Missense_Mutation_p.E46K NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 76 ANK 2. signal transduction ovary(1) 1 TGCTGTGGACGAGGAGGATGC 0.607 NaN 0 0 0 0.009096 0 2 3 DIS3L 115752 broad.mit.edu 37 15 66625127 66625127 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:66625127C>T uc010ujm.1 + 16 2750 c.2735C>T c.(2734-2736)TCA>TTA p.S912L DIS3L_uc002app.2_Missense_Mutation_p.S829L|DIS3L_uc010bho.2_Missense_Mutation_p.S778L NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 912 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 TTAGTCATCTCATGTGGCCCA 0.363 NaN 0 0 0 0.011902 0 37 50 SPESP1 246777 broad.mit.edu 37 15 69238236 69238236 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:69238236C>G uc002arn.1 + 2 491 c.363C>G c.(361-363)TTC>TTG p.F121L NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 precursor 121 multicellular organismal development acrosomal vesicle 0 GTACCCCATTCTGGTCGATCA 0.428 NaN 0 0 0 0.007413 0 16 18 CYP1A2 1544 broad.mit.edu 37 15 75042806 75042806 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:75042806C>G uc002ayr.1 + 2 791 c.727C>G c.(727-729)CGC>GGC p.R243G NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, 243 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CCCCATCCTTCGCTACCTGCC 0.557 NaN 0 0 0 0.01441 0 43 65 SCAMP5 192683 broad.mit.edu 37 15 75308956 75308956 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:75308956G>A uc002azk.1 + 4 321 c.159G>A c.(157-159)GTG>GTA p.V53V SCAMP5_uc002azl.1_Silent_p.V53V|SCAMP5_uc002azm.1_Silent_p.V53V|SCAMP5_uc002azn.1_Silent_p.V53V|SCAMP5_uc010uly.1_Intron NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 53 Helical; (Potential). exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding ovary(1) 1 CGCTGGCCGTGAACCTGGTGG 0.617 NaN 0 0 0 0.007291 0 22 64 SNX33 257364 broad.mit.edu 37 15 75942838 75942838 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:75942838C>G uc002bau.2 + 1 1491 c.1395C>G c.(1393-1395)CTC>CTG p.L465L IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_Intron NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 465 BAR. cell communication phosphatidylinositol binding|protein binding ovary(1) 1 AGAATGACCTCTTCCAGATGC 0.542 NaN 0 0 0 0.01441 0 71 118 SCAPER 49855 broad.mit.edu 37 15 76797229 76797229 + Silent SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:76797229A>G uc002bby.2 - 23 2984 c.2925T>C c.(2923-2925)AAT>AAC p.N975N SCAPER_uc010bkr.2_Silent_p.N283N|SCAPER_uc002bbx.2_Silent_p.N729N|SCAPER_uc002bbz.1_Silent_p.N846N NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 974 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 CTGTGTTCACATTTGTGGCTG 0.383 NaN 0 0 0 0.006122 0 13 23 MORF4L1 10933 broad.mit.edu 37 15 79184578 79184578 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:79184578G>A uc002bel.2 + 9 768 c.580G>A c.(580-582)GAA>AAA p.E194K MORF4L1_uc010blj.1_Missense_Mutation_p.E128K|MORF4L1_uc002bem.2_Missense_Mutation_p.E155K|MORF4L1_uc010une.1_Missense_Mutation_p.E67K NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN MORF-related gene 15 isoform 2 194 Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.|Interaction with RB1-1. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding 0 GAACAGAGTTGAAGTTAAAGT 0.388 NaN 0 0 0 0.004656 0 18 28 ZFAND6 54469 broad.mit.edu 37 15 80423554 80423554 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:80423554G>A uc002bfe.1 + 6 708 c.397G>A c.(397-399)GAA>AAA p.E133K ZFAND6_uc002bff.1_Missense_Mutation_p.E133K|ZFAND6_uc002bfg.1_Missense_Mutation_p.E121K|ZFAND6_uc002bfh.1_Missense_Mutation_p.E133K|ZFAND6_uc002bfi.1_Missense_Mutation_p.E133K NM_019006 NP_061879 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 133 DNA binding|zinc ion binding 0 GCAGCCATCTGAAGAGCAAAG 0.388 NaN 0 0 0 0.008871 0 17 93 AKAP13 11214 broad.mit.edu 37 15 86284652 86284652 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:86284652G>C uc002blv.1 + 35 8154 c.7984G>C c.(7984-7986)GAG>CAG p.E2662Q AKAP13_uc002blu.1_Missense_Mutation_p.E2666Q|AKAP13_uc002blw.1_Missense_Mutation_p.E1127Q|AKAP13_uc002blx.1_Missense_Mutation_p.E907Q NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2662 Interaction with ESR1.|Potential. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GAAACAGCTTGAGAGGGAACA 0.627 NaN 0 0 0 0.010504 0 14 24 FANCI 55215 broad.mit.edu 37 15 89834929 89834929 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:89834929C>G uc010bnp.1 + 20 2066 c.1976C>G c.(1975-1977)TCT>TGT p.S659C FANCI_uc002bnm.1_Missense_Mutation_p.S659C|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.S480C|FANCI_uc002bnq.1_Missense_Mutation_p.S72C NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 659 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) GATAAGATCTCTCTACAAGAA 0.378 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.003271 0 27 55 FANCI 55215 broad.mit.edu 37 15 89850893 89850893 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:89850893C>G uc010bnp.1 + 34 3731 c.3641C>G c.(3640-3642)TCT>TGT p.S1214C FANCI_uc002bnm.1_Missense_Mutation_p.S1154C|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.S974C|FANCI_uc002bnq.1_Missense_Mutation_p.S627C NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 1214 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) TCTTTCATTTCTTACGTACAG 0.443 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.007291 0 23 73 IGF1R 3480 broad.mit.edu 37 15 99459287 99459287 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:99459287G>C uc002bul.2 + 9 1973 c.1923G>C c.(1921-1923)CTG>CTC p.L641L IGF1R_uc010urq.1_Silent_p.L641L|IGF1R_uc010bon.2_Silent_p.L641L|IGF1R_uc010urr.1_Silent_p.L91L NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 641 Fibronectin type-III 2. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ACGGCAACCTGAGTTACTACA 0.557 NaN 0 0 0 0.01441 0 45 51 LINS1 55180 broad.mit.edu 37 15 101109548 101109548 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:101109548G>C uc002bwe.2 - 8 2460 c.2169C>G c.(2167-2169)ATC>ATG p.I723M LINS1_uc002bwd.2_Missense_Mutation_p.I310M|LINS1_uc002bwf.2_Missense_Mutation_p.I723M|LINS1_uc002bwg.2_Missense_Mutation_p.I723M|LINS1_uc002bwh.2_Missense_Mutation_p.I723M NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 723 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) GCAAACGGCAGATGGCATCTT 0.353 NaN 0 0 0 0.010771 0 37 70 TFAP4 7023 broad.mit.edu 37 16 4310208 4310208 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:4310208C>T uc010uxg.1 - 6 959 c.705G>A c.(703-705)GTG>GTA p.V235V NM_003223 NP_003214 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer 235 Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 CTGGCACGATCACCGTGGGGT 0.617 NaN 0 0 0 0.00245 0 11 20 MGRN1 23295 broad.mit.edu 37 16 4721438 4721438 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:4721438A>T uc002cwz.2 + 9 909 c.773A>T c.(772-774)AAC>ATC p.N258I MGRN1_uc002cxa.2_Missense_Mutation_p.N258I|MGRN1_uc010btx.2_Missense_Mutation_p.N259I|MGRN1_uc010btw.2_Missense_Mutation_p.N259I|MGRN1_uc002cxb.2_Missense_Mutation_p.N258I|MGRN1_uc010uxo.1_Missense_Mutation_p.N258I|MGRN1_uc010uxp.1_Missense_Mutation_p.N258I|MGRN1_uc010uxq.1_RNA NM_001142290 NP_001135762 O60291 MGRN1_HUMAN mahogunin, ring finger 1 isoform 3 258 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 GGCATTGAGAACAAGAACAAC 0.587 NaN 0 0 0 0.012319 0 17 35 GRIN2A 2903 broad.mit.edu 37 16 9858060 9858060 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:9858060C>G uc002czo.3 - 13 3889 c.3341G>C c.(3340-3342)AGA>ACA p.R1114T GRIN2A_uc010uym.1_Missense_Mutation_p.R1114T|GRIN2A_uc010uyn.1_Missense_Mutation_p.R957T|GRIN2A_uc002czr.3_Missense_Mutation_p.R1114T NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1114 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GATCTTGTCTCTAGGGGAGCT 0.483 NaN 0 0 0 0.007835 0 31 158 GRIN2A 2903 broad.mit.edu 37 16 9916214 9916214 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:9916214C>G uc002czo.3 - 10 2623 c.2075G>C c.(2074-2076)AGA>ACA p.R692T GRIN2A_uc010uym.1_Missense_Mutation_p.R692T|GRIN2A_uc010uyn.1_Missense_Mutation_p.R535T|GRIN2A_uc002czr.3_Missense_Mutation_p.R692T NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 692 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCGAATGTTTCTCTCCGTGCT 0.388 NaN 0 0 0 0.003271 0 27 101 CIITA 4261 broad.mit.edu 37 16 10996617 10996617 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:10996617C>G uc002dai.3 + 8 864 c.731C>G c.(730-732)TCT>TGT p.S244C CIITA_uc002daj.3_Missense_Mutation_p.S245C|CIITA_uc002dak.3_Missense_Mutation_p.S195C|CIITA_uc002dag.2_Missense_Mutation_p.S244C|CIITA_uc002dah.2_Missense_Mutation_p.S196C|CIITA_uc010bup.1_Missense_Mutation_p.S244C NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 244 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 TGGCAAATCTCTGAGGCTGGA 0.592 NaN T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 0 0 0 0.008361 0 25 46 ABCC6 368 broad.mit.edu 37 16 16297332 16297332 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:16297332G>A uc002den.3 - 8 970 c.933C>T c.(931-933)TTC>TTT p.F311F ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.F323F NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 311 ABC transmembrane type-1 1.|Helical; Name=6; (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TCCCCAGGAGGAAGGTAGAAT 0.592 NaN 0 0 0 0.004007 0 13 49 ACSM3 6296 broad.mit.edu 37 16 20787320 20787320 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:20787320C>T uc002dhr.2 + 3 566 c.379C>T c.(379-381)CTG>TTG p.L127L ACSM3_uc002dhq.2_Silent_p.L127L|ACSM3_uc010vba.1_Silent_p.L119L NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 127 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 AATTCTGATTCTGCCCAGGGT 0.463 NaN 0 0 0 0.004656 0 19 79 TNRC6A 27327 broad.mit.edu 37 16 24802435 24802435 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:24802435G>C uc002dmm.2 + 6 2586 c.2472G>C c.(2470-2472)GAG>GAC p.E824D TNRC6A_uc010bxs.2_Missense_Mutation_p.E571D|TNRC6A_uc010vcc.1_Missense_Mutation_p.E571D|TNRC6A_uc002dmn.2_Missense_Mutation_p.E571D|TNRC6A_uc002dmo.2_Missense_Mutation_p.E571D NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 824 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) ATTGCAAAGAGGAGAAGGCTG 0.507 NaN 0 0 0 0.003163 0 15 20 IL21R 50615 broad.mit.edu 37 16 27456588 27456588 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:27456588C>T uc002doq.1 + 7 1009 c.776C>T c.(775-777)CCA>CTA p.P259L IL21R_uc002dor.1_Missense_Mutation_p.P259L|IL21R_uc002dos.1_Missense_Mutation_p.P259L NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 259 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 AAGACCCATCCATTGTGGAGG 0.552 NaN T BCL6 NHL 0 0 0 0.00499 0 12 13 KCTD13 253980 broad.mit.edu 37 16 29918391 29918391 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:29918391C>T uc002duv.2 - 6 983 c.792G>A c.(790-792)CTG>CTA p.L264L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA NM_178863 NP_849194 Q8WZ19 BACD1_HUMAN potassium channel tetramerisation domain 264 cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 TGAGGATGTTCAGGGTCTCCT 0.672 NaN 0 0 0 0.01441 0 85 33 MAPK3 5595 broad.mit.edu 37 16 30134479 30134479 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30134479C>G uc002dws.2 - 1 152 c.52G>C c.(52-54)GAG>CAG p.E18Q uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_5'Flank|MAPK3_uc002dwv.3_Missense_Mutation_p.E18Q|MAPK3_uc002dwt.2_Missense_Mutation_p.E18Q|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA NM_002746 NP_002737 P27361 MK03_HUMAN mitogen-activated protein kinase 3 isoform 1 18 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|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|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding 0 Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) CCGACCCCCTCGGTTCTACGG 0.408 NaN 0 0 0 0.00278 0 20 7 ZNF689 115509 broad.mit.edu 37 16 30616102 30616102 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30616102G>T uc002dyx.2 - 3 1306 c.986C>A c.(985-987)TCC>TAC p.S329Y ZNF689_uc010bzy.2_5'UTR NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 329 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) CAGGCGAGAGGAGGAGGAGAA 0.701 NaN 1 0 1.58986e-06 0.008291 1.65149e-06 6 49 RNF40 9810 broad.mit.edu 37 16 30780218 30780218 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30780218G>C uc002dzq.2 + 15 2280 c.2157G>C c.(2155-2157)AAG>AAC p.K719N RNF40_uc010caa.2_Missense_Mutation_p.K719N|RNF40_uc010cab.2_Missense_Mutation_p.K619N|RNF40_uc010vfa.1_Missense_Mutation_p.K51N|RNF40_uc002dzr.2_Missense_Mutation_p.K719N|RNF40_uc010vfb.1_Missense_Mutation_p.K411N|RNF40_uc010vfc.1_Missense_Mutation_p.K51N NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 719 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) GGGAGAGCAAGAAGATCGCGG 0.592 NaN 0 0 0 0.01441 0 122 60 TRIM72 493829 broad.mit.edu 37 16 31226097 31226097 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:31226097C>G uc002ebn.1 + 2 267 c.38C>G c.(37-39)TCC>TGC p.S13C NM_001008274 NP_001008275 Q6ZMU5 TRI72_HUMAN tripartite motif-containing 72 13 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding 0 CAGGAGCTGTCCTGCCCGCTG 0.756 NaN 0 0 0 0.013537 0 8 15 GPR56 9289 broad.mit.edu 37 16 57693505 57693505 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:57693505C>G uc002emb.2 + 12 1777 c.1485C>G c.(1483-1485)CTC>CTG p.L495L GPR56_uc002elz.1_Silent_p.L325L|GPR56_uc002ema.1_Silent_p.L320L|GPR56_uc002emc.2_Silent_p.L489L|GPR56_uc002emf.2_Silent_p.L489L|GPR56_uc010vhs.1_Silent_p.L495L|GPR56_uc002emd.2_Silent_p.L489L|GPR56_uc002eme.2_Silent_p.L489L|GPR56_uc010vht.1_Silent_p.L494L|GPR56_uc002emg.3_Silent_p.L489L|GPR56_uc010vhu.1_Silent_p.L314L NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 495 Helical; Name=3; (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 GGATGGGCCTCGAGGGGTACA 0.622 NaN 0 0 0 0.00623 0 27 75 GPR56 9289 broad.mit.edu 37 16 57693541 57693541 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:57693541C>G uc002emb.2 + 12 1813 c.1521C>G c.(1519-1521)GTC>GTG p.V507V GPR56_uc002elz.1_Silent_p.V337V|GPR56_uc002ema.1_Silent_p.V332V|GPR56_uc002emc.2_Silent_p.V501V|GPR56_uc002emf.2_Silent_p.V501V|GPR56_uc010vhs.1_Silent_p.V507V|GPR56_uc002emd.2_Silent_p.V501V|GPR56_uc002eme.2_Silent_p.V501V|GPR56_uc010vht.1_Silent_p.V506V|GPR56_uc002emg.3_Silent_p.V501V|GPR56_uc010vhu.1_Silent_p.V326V NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 507 Cytoplasmic (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 TGGTGGAGGTCTTTGGCACCT 0.627 NaN 0 0 0 0.006999 0 19 87 GPR56 9289 broad.mit.edu 37 16 57693571 57693571 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:57693571C>G uc002emb.2 + 12 1843 c.1551C>G c.(1549-1551)CTC>CTG p.L517L GPR56_uc002elz.1_Silent_p.L347L|GPR56_uc002ema.1_Silent_p.L342L|GPR56_uc002emc.2_Silent_p.L511L|GPR56_uc002emf.2_Silent_p.L511L|GPR56_uc010vhs.1_Silent_p.L517L|GPR56_uc002emd.2_Silent_p.L511L|GPR56_uc002eme.2_Silent_p.L511L|GPR56_uc010vht.1_Silent_p.L516L|GPR56_uc002emg.3_Silent_p.L511L|GPR56_uc010vhu.1_Silent_p.L336L NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 517 Cytoplasmic (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 GCTACCTACTCAAGCTGAGCG 0.622 NaN 0 0 0 0.00632 0 14 83 CDH1 999 broad.mit.edu 37 16 68844139 68844139 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:68844139G>C uc002ewg.1 + 6 851 c.727G>C c.(727-729)GAG>CAG p.E243Q CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.E243Q NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 243 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.E243*(2)|p.?(2) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GAATGCAGTTGAGGATCCAAT 0.493 NaN Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 0 0 0 0.01441 0 63 89 CDH1 999 broad.mit.edu 37 16 68845691 68845691 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:68845691G>A uc002ewg.1 + 7 1061 c.937G>A c.(937-939)GAC>AAC p.D313N CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D313N NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 313 Cadherin 2.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TGAGCTCCCTGACAAAAATAT 0.542 NaN Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 0 0 0 0.004656 0 23 37 GLG1 2734 broad.mit.edu 37 16 74493622 74493622 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:74493622G>C uc002fcy.3 - 23 3152 c.3102C>G c.(3100-3102)CTC>CTG p.L1034L GLG1_uc002fcx.2_Silent_p.L1034L|GLG1_uc002fcw.3_Silent_p.L1023L|GLG1_uc002fcz.3_Silent_p.L451L NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 1034 Extracellular (Potential).|Cys-rich GLG1 15. Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 GGTTGACCTTGAGGCACTCCT 0.438 NaN 0 0 0 0.004007 0 12 22 JPH3 57338 broad.mit.edu 37 16 87677915 87677915 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:87677915G>A uc002fkd.2 + 2 688 c.434G>A c.(433-435)CGG>CAG p.R145Q JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 145 MORN 6.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) TACGGCGTCCGGCAGAGCGTC 0.677 NaN 0 0 0 0.01441 0 39 38 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:90126823T>G uc010cje.2 - 9 1179 c.1159A>C c.(1159-1161)ATG>CTG p.M387L PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.M181L NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN PR domain containing 7 isoform 1 387 chromosome|nucleus nucleic acid binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522 NaN 0 0 0 0.004672 0 3 80 ZNF232 7775 broad.mit.edu 37 17 5009120 5009120 + Nonstop_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5009120C>G uc002gas.2 - 5 2007 c.1253G>C c.(1252-1254)TGA>TCA p.*418S ZNF232_uc002gar.1_Nonstop_Mutation_p.*436S|ZNF232_uc002gat.2_Nonstop_Mutation_p.*445S NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 418 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 CCCTTCAATTCAATGGGAAGG 0.403 NaN 0 0 0 0.010771 0 36 22 ZNF232 7775 broad.mit.edu 37 17 5009220 5009220 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5009220C>G uc002gas.2 - 5 1907 c.1153G>C c.(1153-1155)GAG>CAG p.E385Q ZNF232_uc002gar.1_Missense_Mutation_p.E403Q|ZNF232_uc002gat.2_Missense_Mutation_p.E412Q NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 385 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 AAAGGTTTCTCTCCACTGTGA 0.443 NaN 0 0 0 0.009535 0 25 20 ZNF232 7775 broad.mit.edu 37 17 5009367 5009367 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5009367C>G uc002gas.2 - 5 1760 c.1006G>C c.(1006-1008)GAA>CAA p.E336Q ZNF232_uc002gar.1_Missense_Mutation_p.E354Q|ZNF232_uc002gat.2_Missense_Mutation_p.E363Q NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 336 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 TTCCCACATTCATTACATTCG 0.463 NaN 0 0 0 0.010504 0 19 26 ZNF232 7775 broad.mit.edu 37 17 5009634 5009634 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5009634C>T uc002gas.2 - 5 1493 c.739G>A c.(739-741)GAG>AAG p.E247K ZNF232_uc002gar.1_Missense_Mutation_p.E265K|ZNF232_uc002gat.2_Missense_Mutation_p.E274K NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 247 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 CTCAGTCTCTCCGCTTTGGGA 0.478 NaN 0 0 0 0.013114 0 38 28 RPAIN 84268 broad.mit.edu 37 17 5324736 5324736 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:5324736G>A uc002gbq.2 + 2 772 c.202G>A c.(202-204)GAG>AAG p.E68K NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Missense_Mutation_p.E68K|RPAIN_uc002gbp.1_Missense_Mutation_p.R121K|RPAIN_uc010vta.1_Missense_Mutation_p.E68K|RPAIN_uc010vtb.1_Missense_Mutation_p.E68K|RPAIN_uc002gbs.2_Missense_Mutation_p.R121K|RPAIN_uc002gbt.2_Missense_Mutation_p.E68K|RPAIN_uc002gbu.2_Missense_Mutation_p.R121K|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Missense_Mutation_p.E68K NM_001033002 NP_001028174 Q86UA6 RIP_HUMAN RPA interacting protein isoform b 68 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|cytoplasm|nucleolus|PML body|PML body metal ion binding|protein complex binding 0 GATGGAAGAAGAGTGGAATGC 0.532 NaN 0 0 0 0.007835 0 31 21 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C T rs121912660 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:7577099C>T uc002gim.2 - 8 1033 c.839G>A c.(838-840)AGA>AAA p.R280K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148K|TP53_uc010cng.1_Missense_Mutation_p.R148K|TP53_uc002gii.1_Missense_Mutation_p.R148K|TP53_uc010cnh.1_Missense_Mutation_p.R280K|TP53_uc010cni.1_Missense_Mutation_p.R280K|TP53_uc002gij.2_Missense_Mutation_p.R280K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 280 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCGGTCTCTCCCAGGACA 0.542 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.001855 0 12 9 DNAH2 146754 broad.mit.edu 37 17 7643069 7643069 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:7643069C>T uc002giu.1 + 8 1203 c.1189C>T c.(1189-1191)CAC>TAC p.H397Y DNAH2_uc002git.2_Missense_Mutation_p.H479Y|DNAH2_uc010vuk.1_Missense_Mutation_p.H397Y NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 397 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGTCAGTATCACTTCGCCCG 0.488 NaN 0 0 0 0.008291 0 10 5 KRBA2 124751 broad.mit.edu 37 17 8272483 8272483 + Nonsense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:8272483G>C uc002glf.1 - 2 1454 c.1448C>G c.(1447-1449)TCA>TGA p.S483* KRBA2_uc002glg.1_Nonsense_Mutation_p.S400* NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 483 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding 0 AGTCCCTTGTGAGGTGCTGGG 0.527 NaN 0 0 0 0.010504 0 17 15 MYH10 4628 broad.mit.edu 37 17 8422065 8422065 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:8422065C>G uc002gll.2 - 19 2391 c.2295G>C c.(2293-2295)CAG>CAC p.Q765H MYH10_uc002glm.2_Missense_Mutation_p.Q796H|MYH10_uc010cnx.2_Missense_Mutation_p.Q774H NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 765 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 ATATCTTGCTCTGTCCAATTC 0.358 NaN 0 0 0 0.009535 0 22 21 MYH3 4621 broad.mit.edu 37 17 10543493 10543493 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:10543493G>T uc002gmq.1 - 21 2579 c.2502C>A c.(2500-2502)TTC>TTA p.F834L NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 834 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TGATCTTGAAGAAGAGTTTCA 0.458 NaN 1 0 2.85442e-18 0.010818 3.0971e-18 29 31 MPRIP 23164 broad.mit.edu 37 17 17083324 17083324 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:17083324G>A uc002gqu.1 + 22 3023 c.2967G>A c.(2965-2967)ATG>ATA p.M989I MPRIP_uc002gqv.1_Missense_Mutation_p.M989I|MPRIP_uc002gqw.1_Missense_Mutation_p.M744I|MPRIP_uc002gqx.1_Missense_Mutation_p.M1218I|MPRIP_uc002gqy.1_Missense_Mutation_p.M1218I|MPRIP_uc010cpl.1_Missense_Mutation_p.M175I|MPRIP_uc010cpm.1_Missense_Mutation_p.M175I NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 989 cytoplasm|cytoskeleton actin binding 0 CAGATATAATGAAATCTAAAA 0.443 NaN 0 0 0 0.010504 0 18 13 PROCA1 147011 broad.mit.edu 37 17 27030629 27030629 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:27030629T>C uc002hcb.3 - 5 1167 c.964A>G c.(964-966)AGG>GGG p.R322G PROCA1_uc010crv.2_Missense_Mutation_p.R248G|PROCA1_uc002hca.1_Missense_Mutation_p.R320G NM_152465 NP_689678 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 348 lipid catabolic process calcium ion binding|phospholipase A2 activity ovary(1) 1 Lung NSC(42;0.00431) TTTACCTTCCTGGCTTGTGAG 0.532 NaN 0 0 0 0.01441 0 58 101 ATAD5 79915 broad.mit.edu 37 17 29196272 29196272 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:29196272C>T uc002hfs.1 + 13 3666 c.3320C>T c.(3319-3321)TCG>TTG p.S1107L ATAD5_uc002hft.1_Missense_Mutation_p.S1004L NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1107 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TCAGATTTCTCGGGTGGCATA 0.393 NaN 0 0 0 0.005443 0 21 39 LRRC37B 114659 broad.mit.edu 37 17 30348940 30348940 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:30348940C>G uc002hgu.2 + 1 786 c.775C>G c.(775-777)CAA>GAA p.Q259E LRRC37B_uc010wbx.1_Missense_Mutation_p.Q177E|LRRC37B_uc010csu.2_Missense_Mutation_p.Q259E NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 259 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TGGACTTTCTCAATTCCATCT 0.527 NaN 0 0 0 0.01441 0 57 118 CCL1 6346 broad.mit.edu 37 17 32688819 32688819 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:32688819G>A uc002hid.1 - 2 245 c.173C>T c.(172-174)TCC>TTC p.S58F NM_002981 NP_002972 P22362 CCL1_HUMAN small inducible cytokine A1 precursor 58 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity 0 Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) GCCCTCATTGGAGCAGATGGA 0.483 NaN OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 82 182 MYO19 80179 broad.mit.edu 37 17 34856680 34856680 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:34856680G>A uc010wcy.1 - 24 3359 c.2367C>T c.(2365-2367)CTC>CTT p.L789L MYO19_uc002hmw.2_Silent_p.L589L|MYO19_uc010cuu.2_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 789 IQ 2. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CTGCCTGGATGAGCATGACGG 0.647 NaN 0 0 0 0.009096 0 3 22 MRM1 79922 broad.mit.edu 37 17 34958561 34958561 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:34958561G>A uc002hne.2 + 1 537 c.322G>A c.(322-324)GAC>AAC p.D108N MRM1_uc002hnf.2_5'UTR NM_024864 NP_079140 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog 108 RNA processing mitochondrion RNA binding|RNA methyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GCAGAAACTGGACACAATGTG 0.697 NaN 0 0 0 0.005443 0 22 29 TADA2A 6871 broad.mit.edu 37 17 35804849 35804849 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:35804849G>A uc002hnt.2 + 8 740 c.583G>A c.(583-585)GAT>AAT p.D195N TADA2A_uc002hnu.1_Missense_Mutation_p.D195N|TADA2A_uc002hnv.2_Missense_Mutation_p.D195N|TADA2A_uc010wdd.1_Missense_Mutation_p.D195N|TADA2A_uc002hnw.2_Missense_Mutation_p.D94N|TADA2A_uc010cvb.2_5'UTR NM_001488 NP_001479 O75478 TAD2A_HUMAN transcriptional adaptor 2A isoform a 195 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(3)|skin(1) 4 TTTTGTTGAAGATGACTCGGA 0.264 NaN 0 0 0 0.01441 0 83 170 SMARCE1 6605 broad.mit.edu 37 17 38787930 38787930 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:38787930C>G uc002hux.2 - 9 854 c.730G>C c.(730-732)GAA>CAA p.E244Q SMARCE1_uc010wff.1_Missense_Mutation_p.E209Q|SMARCE1_uc010wfg.1_Missense_Mutation_p.E174Q|SMARCE1_uc002huy.2_Missense_Mutation_p.E209Q|SMARCE1_uc010wfh.1_Missense_Mutation_p.E174Q|SMARCE1_uc010wfi.1_Missense_Mutation_p.E226Q NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated 244 Potential. chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) TGAAGAAGTTCAGCTTCTAGT 0.353 NaN 0 0 0 0.00333 0 20 38 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:39274087G>C uc002hvz.2 - 1 520 c.481C>G c.(481-483)CTG>GTG p.L161V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.323 NaN 0 0 0 0.009096 0 3 17 KCNH4 23415 broad.mit.edu 37 17 40317544 40317544 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:40317544G>A uc002hzb.2 - 11 2341 c.2008C>T c.(2008-2010)CCT>TCT p.P670S NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 670 Cytoplasmic (Potential).|cNMP. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CCATACTCAGGATAGAGCCTC 0.607 NaN 0 0 0 0.008291 0 11 41 KCNH4 23415 broad.mit.edu 37 17 40317638 40317638 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:40317638G>A uc002hzb.2 - 11 2247 c.1914C>T c.(1912-1914)TTC>TTT p.F638F NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 638 Cytoplasmic (Potential).|cNMP. regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TCTTTAGCACGAAGTTTGGGT 0.592 NaN 0 0 0 0.008361 0 23 38 KCNH4 23415 broad.mit.edu 37 17 40321612 40321612 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:40321612G>A uc002hzb.2 - 9 1806 c.1473C>T c.(1471-1473)CGC>CGT p.R491R NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 491 Helical; Name=Segment S6; (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGTCCTTCATGCGGCTGTGGT 0.637 NaN 0 0 0 0.005443 0 24 57 TUBG2 27175 broad.mit.edu 37 17 40818450 40818450 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:40818450C>T uc010wgr.1 + 10 1362 c.1106C>T c.(1105-1107)TCG>TTG p.S369L TUBG2_uc002iaq.2_Missense_Mutation_p.S211L|TUBG2_uc002iar.2_Missense_Mutation_p.S216L|TUBG2_uc002ias.2_Missense_Mutation_p.S211L|TUBG2_uc002iap.2_Missense_Mutation_p.S216L NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 369 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) TACCTGCCCTCGGCCCACCGG 0.607 NaN 0 0 0 0.01441 0 39 66 MYCBPAP 84073 broad.mit.edu 37 17 48599420 48599420 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:48599420G>A uc010wmr.1 + 10 1526 c.1364G>A c.(1363-1365)AGA>AAA p.R455K MYCBPAP_uc002iqx.2_Missense_Mutation_p.R455K|MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 418 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) TGCTGGATCAGAGGCAGTAAT 0.562 NaN 0 0 0 0.00623 0 33 23 KIAA0195 9772 broad.mit.edu 37 17 73488566 73488566 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:73488566G>C uc002jnz.3 + 15 1883 c.1608G>C c.(1606-1608)GGG>GGC p.G536G KIAA0195_uc010wsa.1_Silent_p.G546G|KIAA0195_uc010wsb.1_Silent_p.G176G NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 536 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCAGCCTGGGATGGAGAGCG 0.632 NaN 0 0 0 0.00308 0 5 37 SEC14L1 6397 broad.mit.edu 37 17 75196652 75196652 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr17:75196652G>C uc002jto.2 + 9 1173 c.906G>C c.(904-906)TTG>TTC p.L302F SEC14L1_uc010dhc.2_Missense_Mutation_p.L302F|SEC14L1_uc010wth.1_Missense_Mutation_p.L302F|SEC14L1_uc002jtm.2_Missense_Mutation_p.L302F|SEC14L1_uc010wti.1_Missense_Mutation_p.L268F NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 302 transport Golgi apparatus|integral to membrane binding ovary(2) 2 GTCAGTCTTTGACGTGGAGAA 0.458 NaN 0 0 0 0.01441 0 58 37 TXNDC2 84203 broad.mit.edu 37 18 9887461 9887461 + Missense_Mutation SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:9887461A>C uc002koi.3 + 2 1434 c.985A>C c.(985-987)ATC>CTC p.I329L TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.I262L NM_001098529 NP_001091999 Q86VQ3 TXND2_HUMAN thioredoxin domain-containing 2 isoform 2 329 15.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity ovary(1)|pancreas(1) 2 GGAGGGTGACATCCCCAAGTC 0.592 NaN 0 0 0 0.001168 0 4 143 B4GALT6 9331 broad.mit.edu 37 18 29218639 29218639 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:29218639G>A uc002kwz.3 - 5 853 c.556C>T c.(556-558)CGG>TGG p.R186W B4GALT6_uc010dma.2_Missense_Mutation_p.R147W|B4GALT6_uc010dmb.2_Intron NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN beta-1,4-galactosyltransferase 6 186 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(10;0.00791) AATTCCAGCCGCTGCTTCTGG 0.358 NaN 0 0 0 0.000602 0 3 86 RIT2 6014 broad.mit.edu 37 18 40323592 40323592 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:40323592A>T uc002lav.2 - 5 693 c.520T>A c.(520-522)TTT>ATT p.F174I RIT2_uc010dnf.2_3'UTR NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 174 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 AAGCCATGAAAAGCATCATCA 0.428 NaN 0 0 0 0.010504 0 20 33 ZBTB7C 201501 broad.mit.edu 37 18 45567023 45567023 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:45567023C>G uc002lda.2 - 1 472 c.456G>C c.(454-456)GAG>GAC p.E152D ZBTB7C_uc002ldb.2_Missense_Mutation_p.E152D|ZBTB7C_uc010dnu.2_Missense_Mutation_p.E161D|ZBTB7C_uc010dnv.2_Missense_Mutation_p.E174D|ZBTB7C_uc010dnw.2_Missense_Mutation_p.E152D|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dny.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E174D|ZBTB7C_uc010dob.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doc.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dod.1_Missense_Mutation_p.E174D|ZBTB7C_uc010doe.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dof.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dog.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doh.1_Missense_Mutation_p.E161D|ZBTB7C_uc010doi.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doj.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dok.1_Missense_Mutation_p.E201D|ZBTB7C_uc010dol.1_Missense_Mutation_p.E161D|ZBTB7C_uc010doa.1_Missense_Mutation_p.E174D|ZBTB7C_uc010don.1_Missense_Mutation_p.E160D|ZBTB7C_uc010doo.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dop.1_Missense_Mutation_p.E152D|ZBTB7C_uc010doq.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dor.1_Missense_Mutation_p.E174D|ZBTB7C_uc010dos.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dot.1_Missense_Mutation_p.E152D|ZBTB7C_uc010dou.1_Missense_Mutation_p.E161D|ZBTB7C_uc010dom.1_Missense_Mutation_p.E161D NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 152 Glu-rich.|Asp-rich. intracellular nucleic acid binding|zinc ion binding ovary(1) 1 cctcttcgtcctcctcatcat 0.284 NaN 0 0 0 0.000602 0 5 17 ALPK2 115701 broad.mit.edu 37 18 56203518 56203518 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:56203518C>G uc002lhj.3 - 5 4115 c.3901G>C c.(3901-3903)GAG>CAG p.E1301Q ALPK2_uc002lhk.1_Missense_Mutation_p.E632Q NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1301 ATP binding|protein serine/threonine kinase activity p.H1301H(1) ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TCAGCATCCTCTGGACTGTGA 0.507 NaN 0 0 0 0.009535 0 23 50 ZNF532 55205 broad.mit.edu 37 18 56587297 56587297 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:56587297C>T uc002lho.2 + 4 2325 c.1778C>T c.(1777-1779)CCA>CTA p.P593L ZNF532_uc002lhp.2_Missense_Mutation_p.P591L|ZNF532_uc010xeg.1_Missense_Mutation_p.P591L|ZNF532_uc002lhr.2_Missense_Mutation_p.P591L|ZNF532_uc002lhs.2_Missense_Mutation_p.P591L NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 AGTGTCAATCCAGTCCCTGTT 0.557 NaN 0 0 0 0.008291 0 10 26 CCBE1 147372 broad.mit.edu 37 18 57363928 57363928 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:57363928C>A uc002lib.2 - 2 215 c.145G>T c.(145-147)GAG>TAG p.E49* NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 49 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) ATTTTGCTCTCTGAGCAGATT 0.587 NaN OREG0025022 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 2.32078e-09 0.003163 2.46325e-09 10 54 NFATC1 4772 broad.mit.edu 37 18 77246380 77246380 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr18:77246380C>G uc010xfg.1 + 9 2678 c.2225C>G c.(2224-2226)TCC>TGC p.S742C NFATC1_uc002lnd.2_Missense_Mutation_p.S742C|NFATC1_uc002lne.2_Missense_Mutation_p.S270C|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Missense_Mutation_p.S270C|NFATC1_uc002lnf.2_Missense_Mutation_p.S729C|NFATC1_uc002lng.2_Missense_Mutation_p.S729C|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 742 Trans-activation domain B (TAD-B). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GACCCCAGCTCCTGCCTCGTG 0.662 NaN 0 0 0 0.01441 0 57 129 MKNK2 2872 broad.mit.edu 37 19 2042510 2042510 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:2042510C>T uc002lus.2 - 10 911 c.666G>A c.(664-666)GTG>GTA p.V222V MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_Silent_p.V61V|MKNK2_uc010xgv.1_Silent_p.V91V|MKNK2_uc002lur.2_Silent_p.V222V|MKNK2_uc002lut.1_5'UTR NM_199054 NP_951009 Q9HBH9 MKNK2_HUMAN MAP kinase-interacting serine/threonine kinase 2 222 Protein kinase. cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity lung(1)|breast(1) 2 Ovarian(11;2.11e-07)|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) CACAGATCTTCACGGGGGAGA 0.692 NaN 0 0 0 0.001168 0 3 3 ZNF77 58492 broad.mit.edu 37 19 2933592 2933592 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:2933592C>G uc002lws.3 - 4 1664 c.1533G>C c.(1531-1533)GTG>GTC p.V511V NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 511 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGCGTTCTCACGTGCACAC 0.493 NaN 0 0 0 0.009718 0 37 74 C19orf29 58509 broad.mit.edu 37 19 3620192 3620192 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:3620192C>A uc002lyh.2 - 4 870 c.817G>T c.(817-819)GAG>TAG p.E273* C19orf29_uc010xho.1_5'Flank|C19orf29_uc010dtn.2_Nonsense_Mutation_p.E121*|C19orf29_uc002lyi.3_Nonsense_Mutation_p.E273*|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 273 Potential. catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TGCTCTGCCTCCTTCTCGCGC 0.672 NaN 1 0 1.58986e-06 0.008291 1.65149e-06 7 20 UHRF1 29128 broad.mit.edu 37 19 4910993 4910993 + Silent SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:4910993C>A uc002mbo.2 + 2 264 c.96C>A c.(94-96)ATC>ATA p.I32I uc002mbn.1_5'Flank|UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.I45I NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 32 Ubiquitin-like. cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GGCGGAAGATCCAGGAGCTGT 0.622 NaN OREG0025176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.28615e-30 0.01441 3.62424e-30 55 78 UHRF1 29128 broad.mit.edu 37 19 4911005 4911005 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:4911005C>T uc002mbo.2 + 2 276 c.108C>T c.(106-108)TTC>TTT p.F36F uc002mbn.1_5'Flank|UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Silent_p.F49F NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 36 Ubiquitin-like. cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) AGGAGCTGTTCCACGTGGAGC 0.637 NaN OREG0025176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 56 74 CRB3 92359 broad.mit.edu 37 19 6466563 6466563 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:6466563G>A uc002mey.2 + 4 774 c.243G>A c.(241-243)CGG>CGA p.R81R CRB3_uc002mez.2_Silent_p.R81R|CRB3_uc002mfa.2_Silent_p.R81R NM_139161 NP_631900 Q9BUF7 CRUM3_HUMAN crumbs 3 isoform a precursor 81 Cytoplasmic (Potential). protein localization in plasma membrane|tight junction assembly apical plasma membrane|integral to membrane|tight junction SH3 domain binding 0 TGTTGGTGCGGAAGCTTCGGG 0.652 NaN 0 0 0 0.01441 0 83 98 MYO1F 4542 broad.mit.edu 37 19 8615474 8615474 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:8615474C>T uc002mkg.2 - 9 990 c.876G>A c.(874-876)GGG>GGA p.G292G MYO1F_uc002mkh.2_Silent_p.G292G NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 292 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 GGGCGTAATTCCCGTCTTCAC 0.607 NaN 0 0 0 0.011902 0 34 75 KEAP1 9817 broad.mit.edu 37 19 10602630 10602630 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:10602630C>T uc002moq.1 - 3 1104 c.948G>A c.(946-948)GTG>GTA p.V316V KEAP1_uc002mop.1_Silent_p.V34V|KEAP1_uc002mor.1_Silent_p.V316V NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 316 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GGCAGGGCATCACCTGCGTGG 0.637 NaN 0 0 0 0.004007 0 14 22 KEAP1 9817 broad.mit.edu 37 19 10602848 10602848 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:10602848C>T uc002moq.1 - 3 886 c.730G>A c.(730-732)GAG>AAG p.E244K KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.E244K NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 244 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TGGAAGACCTCGGACTCGCAG 0.627 NaN 0 0 0 0.00499 0 16 48 CCDC151 115948 broad.mit.edu 37 19 11545659 11545659 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:11545659C>G uc002mrs.2 - 1 322 c.179G>C c.(178-180)AGA>ACA p.R60T CCDC151_uc010dxz.2_Missense_Mutation_p.R60T|PRKCSH_uc002mrt.2_5'Flank|PRKCSH_uc002mru.2_5'Flank|PRKCSH_uc010xlz.1_5'Flank|PRKCSH_uc010dya.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.2_5'Flank NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 60 ovary(1) 1 CCCTGCACCTCTGTGGAAGGA 0.597 NaN OREG0025257 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00278 0 21 58 ZNF441 126068 broad.mit.edu 37 19 11891595 11891595 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:11891595C>T uc010dyj.2 + 4 1150 c.956C>T c.(955-957)TCT>TTT p.S319F ZNF441_uc002msn.3_Missense_Mutation_p.S275F NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 319 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGCTTTCTTTCTCCCAGTTCA 0.403 NaN 0 0 0 0.007291 0 29 48 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:12187443C>G uc002mtb.2 + 4 1651 c.1508C>G c.(1507-1509)CCT>CGT p.P503R ZNF844_uc010dym.1_Missense_Mutation_p.P346R NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAGAGAAACCCTATGAGTGTA 0.413 NaN 0 0 0 0.000602 0 3 65 WDR83 84292 broad.mit.edu 37 19 12786441 12786441 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:12786441G>T uc002mue.3 + 11 1238 c.903G>T c.(901-903)CAG>CAT p.Q301H WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_Missense_Mutation_p.Q301H NM_001099737 NP_001093207 Q9BRX9 WDR83_HUMAN mitogen-activated protein kinase organizer 1 301 WD 7. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm lung(1)|breast(1) 2 GCAGCGTCCAGTGCTGGCGAG 0.647 NaN OREG0025272 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 5.4927e-09 0.004482 5.78406e-09 7 14 OR10H2 26538 broad.mit.edu 37 19 15839103 15839103 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:15839103G>A uc002nbm.2 + 1 270 c.250G>A c.(250-252)GAC>AAC p.D84N NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CATGCTGGCCGACCTGCTGTC 0.622 NaN 0 0 0 0.00499 0 3 45 C19orf42 79086 broad.mit.edu 37 19 16770802 16770802 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:16770802C>T uc002ner.2 - 2 83 c.36G>A c.(34-36)CTG>CTA p.L12L TMEM38A_uc002nes.2_5'Flank|C19orf42_uc002neo.1_RNA|C19orf42_uc002nep.1_RNA NM_024104 NP_077009 Q9BQ49 CS042_HUMAN hypothetical protein LOC79086 precursor 12 integral to membrane 0 CGGCATTCATCAGCAACGTCC 0.617 NaN 0 0 0 0.006214 0 7 26 UPF1 5976 broad.mit.edu 37 19 18943112 18943112 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:18943112G>C uc002nkg.2 + 1 369 c.94G>C c.(94-96)GAG>CAG p.E32Q UPF1_uc002nkf.2_Missense_Mutation_p.E32Q NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 32 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 ACAGGGCTCCGAGTTCGAGTT 0.443 NaN 0 0 0 0.00874 0 30 35 ZNF737 100129842 broad.mit.edu 37 19 20727954 20727954 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:20727954T>C uc002npa.2 - 4 1235 c.1055A>G c.(1054-1056)TAC>TGC p.Y352C NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 352 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 GGATGAGAAGTACTTAAAGGC 0.418 NaN 0 0 0 0.010504 0 20 36 ZNF492 57615 broad.mit.edu 37 19 22847709 22847709 + Missense_Mutation SNP T T A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:22847709T>A uc002nqw.3 + 4 1482 c.1238T>A c.(1237-1239)ATA>AAA p.I413K NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 413 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ACACATAAGATAATTCATACT 0.368 NaN 0 0 0 0.00623 0 31 56 ZNF492 57615 broad.mit.edu 37 19 22847715 22847715 + Missense_Mutation SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:22847715A>G uc002nqw.3 + 4 1488 c.1244A>G c.(1243-1245)CAT>CGT p.H415R NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 415 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AAGATAATTCATACTGGAGAG 0.378 NaN 0 0 0 0.003755 0 27 54 ZNF91 7644 broad.mit.edu 37 19 23544724 23544724 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:23544724T>C uc002nre.2 - 4 1170 c.1057A>G c.(1057-1059)AAA>GAA p.K353E ZNF91_uc010xrj.1_Missense_Mutation_p.K321E NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 353 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCACATTCTTTACATTTGTAG 0.373 NaN 0 0 0 0.000602 0 3 99 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:23544783C>T uc002nre.2 - 4 1111 c.998G>A c.(997-999)CGT>CAT p.R333H ZNF91_uc010xrj.1_Missense_Mutation_p.R301H NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 333 C2H2-type 7. R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393 NaN 0 0 0 0.00308 0 6 151 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:23544867T>C uc002nre.2 - 4 1027 c.914A>G c.(913-915)CAT>CGT p.H305R ZNF91_uc010xrj.1_Missense_Mutation_p.H273R NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 305 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413 NaN 0 0 0 0.006214 0 9 158 PLEKHG2 64857 broad.mit.edu 37 19 39909624 39909624 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:39909624C>G uc010xuz.1 + 11 1569 c.1244C>G c.(1243-1245)CCT>CGT p.P415R PLEKHG2_uc010xuy.1_Missense_Mutation_p.P356R|PLEKHG2_uc002olj.2_Missense_Mutation_p.P415R|PLEKHG2_uc010xva.1_Missense_Mutation_p.P222R NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 415 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GAGAACCACCCTGCCTCCATC 0.602 NaN 0 0 0 0.00245 0 13 82 MAP3K10 4294 broad.mit.edu 37 19 40710537 40710537 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:40710537G>A uc002ona.2 + 3 1297 c.1009G>A c.(1009-1011)GAG>AAG p.E337K MAP3K10_uc002onb.2_5'UTR NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 337 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity ovary(2)|lung(2)|skin(1)|pancreas(1) 6 CCGCCTCCTGGAGGGTGAGCC 0.652 NaN 0 0 0 0.003163 0 11 22 HIPK4 147746 broad.mit.edu 37 19 40886736 40886736 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:40886736C>A uc002onp.2 - 3 1447 c.1162G>T c.(1162-1164)GAT>TAT p.D388Y NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 388 cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GGGGTCCCATCTTCTGCGGCC 0.662 NaN 1 0 9.57592e-29 0.01441 1.04963e-28 39 41 ARHGEF1 9138 broad.mit.edu 37 19 42407459 42407459 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:42407459G>A uc002orx.2 + 19 1850 c.1741G>A c.(1741-1743)GAG>AAG p.E581K ARHGEF1_uc002ory.2_Missense_Mutation_p.E548K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E419K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E596K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E563K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E335K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E240K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E25K NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 581 DH. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GCCTGCAGAAGAGCCCACAGA 0.557 NaN 0 0 0 0.001984 0 5 21 ZNF574 64763 broad.mit.edu 37 19 42583877 42583877 + Silent SNP C C T rs113091672 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:42583877C>T uc002osm.3 + 2 1288 c.1119C>T c.(1117-1119)TTC>TTT p.F373F ZNF574_uc002osk.3_Silent_p.F463F NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 373 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GCCTGGCCTTCGGCACAGAGG 0.587 NaN 0 0 0 0.006214 0 7 31 GLTSCR1 29998 broad.mit.edu 37 19 48197590 48197590 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:48197590C>G uc002phh.3 + 8 2696 c.2502C>G c.(2500-2502)ATC>ATG p.I834M GLTSCR1_uc002phi.3_Missense_Mutation_p.I592M NM_015711 NP_056526 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 834 protein binding pancreas(3) 3 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) TGCCTGGCATCTTTGTCATCC 0.721 NaN 0 0 0 0.014323 0 19 9 PIH1D1 55011 broad.mit.edu 37 19 49954846 49954846 + Translation_Start_Site SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:49954846G>C uc002pns.2 - 1 270 c.-14C>G c.(-16--12)ATCTC>ATGTC PIH1D1_uc010yap.1_Translation_Start_Site|PIH1D1_uc010yaq.1_Translation_Start_Site|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank NM_017916 NP_060386 Q9NWS0 PIHD1_HUMAN NOP17 box C/D snoRNP assembly pre-snoRNP complex 0 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) CTGGGAAAGAGATCTAGGCGT 0.607 NaN 0 0 0 0.004482 0 4 25 SCAF1 58506 broad.mit.edu 37 19 50155777 50155777 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:50155777G>A uc002poq.2 + 7 2255 c.2131G>A c.(2131-2133)GAC>AAC p.D711N NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 711 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GGGCCGGCTTGACAAGTCCGA 0.711 NaN 0 0 0 0.004007 0 15 10 ZNF473 25888 broad.mit.edu 37 19 50548458 50548458 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:50548458C>T uc002prn.2 + 5 995 c.758C>T c.(757-759)TCT>TTT p.S253F ZNF473_uc002prm.2_Missense_Mutation_p.S253F|ZNF473_uc010ybo.1_Missense_Mutation_p.S241F NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 253 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GCTTCCCTTTCTGTGTATCCG 0.453 NaN 0 0 0 0.01441 0 43 223 NR1H2 7376 broad.mit.edu 37 19 50881973 50881973 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:50881973C>T uc010enw.2 + 7 946 c.670C>T c.(670-672)CAA>TAA p.Q224* NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Nonsense_Mutation_p.Q223*|NR1H2_uc002psa.3_Nonsense_Mutation_p.Q126* NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 223 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) AACAGCGGCTCAAGAACTAAT 0.632 NaN 0 0 0 0.004656 0 27 30 ACPT 93650 broad.mit.edu 37 19 51295390 51295390 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:51295390G>A uc002pta.1 + 5 511 c.511G>A c.(511-513)GAG>AAG p.E171K NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN testicular acid phosphatase precursor 171 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) GGAGGCCACCGAGGCCGCCGA 0.582 NaN 0 0 0 0.00308 0 6 6 ZNF845 91664 broad.mit.edu 37 19 53855196 53855196 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:53855196T>C uc010ydv.1 + 4 1385 c.1268T>C c.(1267-1269)ATG>ACG p.M423T ZNF845_uc010ydw.1_Missense_Mutation_p.M423T NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 423 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCAGTCAGATGTCATCCCTT 0.408 NaN 0 0 0 0.004482 0 4 237 ZNF845 91664 broad.mit.edu 37 19 53855364 53855365 + Missense_Mutation DNP CA CA TG TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:53855364_53855365CA>TG uc010ydv.1 + 4 1553_1554 c.1436_1437CA>TG c.(1435-1437)ACA>ATG p.T479M ZNF845_uc010ydw.1_Missense_Mutation_p.T479M NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 479 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCAGTCAGACATCATCCCTTG 0.381 NaN 0 0 0 0.004672 0 6 162 ZNF761 388561 broad.mit.edu 37 19 53958826 53958826 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:53958826G>A uc010eqp.2 + 7 1523 c.1065G>A c.(1063-1065)AAG>AAA p.K355K ZNF761_uc010ydy.1_Silent_p.K301K|ZNF761_uc002qbt.1_Silent_p.K301K NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 355 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) AACCTTACAAGTGTAATGAGT 0.418 NaN 0 0 0 0.013537 0 8 350 LILRB5 10990 broad.mit.edu 37 19 54758713 54758713 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:54758713G>C uc002qex.2 - 6 1251 c.1140C>G c.(1138-1140)TTC>TTG p.F380L LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.F371L|LILRB5_uc002qey.2_Missense_Mutation_p.F380L|LILRB5_uc002qez.2_Missense_Mutation_p.F280L|LILRB5_uc002qfa.1_Missense_Mutation_p.F270L|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 380 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACTCATGGAGAATTCAGCCT 0.547 NaN 0 0 0 0.003755 0 27 87 PEG3 5178 broad.mit.edu 37 19 57335838 57335838 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:57335838C>T uc002qnu.2 - 1 537 c.186G>A c.(184-186)AAG>AAA p.K62K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.K62K|PEG3_uc002qnv.2_Silent_p.K62K|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.K62K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 62 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGATCAGGGTCTTCCGAGGCC 0.512 NaN 0 0 0 0.004007 0 12 73 RRM2 6241 broad.mit.edu 37 2 10263127 10263127 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:10263127G>A uc002rah.2 + 2 308 c.117G>A c.(115-117)GGG>GGA p.G39G NM_001034 NP_001025 P31350 RIR2_HUMAN ribonucleotide reductase M2 polypeptide isoform 39 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) CCCTGAGCGGGACCCGCGTCC 0.751 NaN 0 0 0 0.009096 0 3 5 KCNF1 3754 broad.mit.edu 37 2 11053189 11053189 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:11053189G>A uc002rax.2 + 1 1127 c.637G>A c.(637-639)GAG>AAG p.E213K NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 213 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GCTGGACGCCGAGGGCAACCG 0.667 NaN 0 0 0 0.00278 0 18 22 SMC6 79677 broad.mit.edu 37 2 17877556 17877556 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:17877556C>G uc002rco.2 - 22 2828 c.2532G>C c.(2530-2532)GAG>GAC p.E844D SMC6_uc010exo.2_Missense_Mutation_p.E844D|SMC6_uc002rcn.2_Missense_Mutation_p.E844D|SMC6_uc002rcp.1_Missense_Mutation_p.E870D NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 844 Potential. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGTGAAAAACCTCTAGTTCTT 0.303 NaN 0 0 0 0.006214 0 9 19 OTOF 9381 broad.mit.edu 37 2 26706333 26706333 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:26706333C>T uc002rhk.2 - 13 1516 c.1389G>A c.(1387-1389)CAG>CAA p.Q463Q NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 463 Cytoplasmic (Potential).|C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAGTACCTTCTGGCCAGCAA 0.567 NaN 0 0 0 0.00632 0 20 44 GCKR 2646 broad.mit.edu 37 2 27726416 27726416 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:27726416G>A uc002rky.2 + 9 746 c.680G>A c.(679-681)CGA>CAA p.R227Q GCKR_uc010ezd.2_Missense_Mutation_p.R227Q|GCKR_uc010ylu.1_Missense_Mutation_p.R37Q NM_001486 NP_001477 Q14397 GCKR_HUMAN glucokinase regulatory protein 227 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding ovary(2) 2 Acute lymphoblastic leukemia(172;0.155) TCAACATTCCGACAAGTAGCA 0.488 NaN 0 0 0 0.000602 0 3 63 MRPL33 9553 broad.mit.edu 37 2 27997305 27997305 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:27997305G>C uc002rlm.1 + 3 117 c.56G>C c.(55-57)AGA>ACA p.R19T MRPL33_uc002rln.1_Intron NM_004891 NP_004882 O75394 RM33_HUMAN mitochondrial ribosomal protein L33 isoform a 19 translation mitochondrion|ribosome structural constituent of ribosome 0 Acute lymphoblastic leukemia(172;0.155) ATTCTGGTGAGAATGGTGAGC 0.423 NaN 0 0 0 0.01441 0 51 99 MRPL33 9553 broad.mit.edu 37 2 27997348 27997348 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:27997348G>A uc002rlm.1 + 3 160 c.99G>A c.(97-99)AAG>AAA p.K33K MRPL33_uc002rln.1_Intron NM_004891 NP_004882 O75394 RM33_HUMAN mitochondrial ribosomal protein L33 isoform a 33 translation mitochondrion|ribosome structural constituent of ribosome 0 Acute lymphoblastic leukemia(172;0.155) TCAACACCAAGAGAAACCGAC 0.453 NaN 0 0 0 0.01441 0 51 88 CLIP4 79745 broad.mit.edu 37 2 29386751 29386751 + Missense_Mutation SNP T T G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:29386751T>G uc002rmv.2 + 13 1828 c.1589T>G c.(1588-1590)GTT>GGT p.V530G CLIP4_uc002rmu.2_Missense_Mutation_p.V530G|CLIP4_uc002rmw.2_RNA NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 530 CAP-Gly 2. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GATGGTTCAGTTGGAGGTGTG 0.378 NaN 0 0 0 0.014323 0 19 109 SRBD1 55133 broad.mit.edu 37 2 45616464 45616464 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:45616464G>A uc002rus.2 - 21 3049 c.2973C>T c.(2971-2973)CTC>CTT p.L991L SRBD1_uc010yoc.1_Silent_p.L510L NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 991 S1 motif. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) ACACCCGAATGAGGTCCAGAG 0.448 NaN 0 0 0 0.01441 0 37 69 TTC7A 57217 broad.mit.edu 37 2 47277133 47277133 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:47277133G>T uc002rvo.2 + 17 2333 c.1965G>T c.(1963-1965)AAG>AAT p.K655N TTC7A_uc002rvm.2_Missense_Mutation_p.K621N|TTC7A_uc002rvn.1_Missense_Mutation_p.K497N|TTC7A_uc010fbb.2_Missense_Mutation_p.K679N|TTC7A_uc010fbc.2_Missense_Mutation_p.K301N|TTC7A_uc002rvp.2_Missense_Mutation_p.K536N|TTC7A_uc002rvq.2_Missense_Mutation_p.K395N|TTC7A_uc002rvr.2_Missense_Mutation_p.K104N NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 655 binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TCACCATGAAGAAGCAGAGTG 0.572 NaN 1 0 3.41278e-10 0.00499 3.63668e-10 12 34 FAM161A 84140 broad.mit.edu 37 2 62066591 62066591 + Silent SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:62066591G>T uc010ypo.1 - 3 1650 c.1548C>A c.(1546-1548)CCC>CCA p.P516P FAM161A_uc002sbm.3_Silent_p.P516P|FAM161A_uc002sbn.3_Silent_p.P326P|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Silent_p.P407P NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 516 response to stimulus|visual perception centrosome large_intestine(2)|ovary(1) 3 AAGATACCGTGGGCACGGGAG 0.498 NaN 1 0 1.57019e-19 0.007835 1.70715e-19 30 82 ARHGAP25 9938 broad.mit.edu 37 2 69002384 69002384 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:69002384G>A uc002seu.2 + 2 457 c.93G>A c.(91-93)CAG>CAA p.Q31Q ARHGAP25_uc010yqk.1_Silent_p.Q5Q|ARHGAP25_uc010fdg.2_Silent_p.Q31Q|ARHGAP25_uc010yql.1_Silent_p.Q31Q|ARHGAP25_uc002sev.2_Silent_p.Q24Q|ARHGAP25_uc002sew.2_Silent_p.Q24Q|ARHGAP25_uc002sex.2_Silent_p.Q24Q|ARHGAP25_uc010fdh.1_RNA NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 31 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 CTGGCGAGCAGATGGCTGCCT 0.597 NaN 0 0 0 0.01441 0 178 324 AUP1 550 broad.mit.edu 37 2 74754468 74754468 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:74754468C>G uc010yrx.1 - 9 1281 c.1155G>C c.(1153-1155)TTG>TTC p.L385F DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.L61F|AUP1_uc002smf.2_Missense_Mutation_p.L328F|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.L237F|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA; 394 Cytoplasmic (Potential).|CUE. endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 TAGTGATAGTCAAGTCTACAC 0.527 NaN 0 0 0 0.001855 0 11 27 MRPL19 9801 broad.mit.edu 37 2 75879657 75879657 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:75879657C>G uc002snl.2 + 4 374 c.349C>G c.(349-351)CTT>GTT p.L117V MRPL19_uc002snm.1_Missense_Mutation_p.L117V NM_014763 NP_055578 P49406 RM19_HUMAN mitochondrial ribosomal protein L19 precursor 117 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome 0 AGGAAGTATTCTTCGTGTTAC 0.383 NaN 0 0 0 0.004289 0 32 72 THNSL2 55258 broad.mit.edu 37 2 88485580 88485580 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:88485580C>T uc002ssz.3 + 9 1546 c.1393C>T c.(1393-1395)CGG>TGG p.R465W THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_3'UTR|THNSL2_uc002ssx.3_3'UTR|THNSL2_uc002sta.3_3'UTR|THNSL2_uc002ssy.3_Missense_Mutation_p.R465W|THNSL2_uc010fhe.2_3'UTR NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 465 threonine biosynthetic process threonine synthase activity ovary(1) 1 GCTGATGCTTCGGGACACCAT 0.592 NaN 0 0 0 0.009096 0 3 7 TGFBRAP1 9392 broad.mit.edu 37 2 105924617 105924617 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:105924617G>A uc002tcq.2 - 2 226 c.142C>T c.(142-144)CAC>TAC p.H48Y TGFBRAP1_uc002tcr.3_Missense_Mutation_p.H48Y NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 48 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 AACAGGAAGTGGTAGACGAAG 0.612 NaN 0 0 0 0.000602 0 4 42 SULT1C4 27233 broad.mit.edu 37 2 108994856 108994856 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:108994856C>T uc002tea.1 + 1 436 c.63C>T c.(61-63)TAC>TAT p.Y21Y SULT1C4_uc002tdz.2_Silent_p.Y21Y|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.Y21Y NM_006588 NP_006579 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 21 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity 0 GTGTCAACTACGTGAAGGGAA 0.438 NaN 0 0 0 0.01441 0 61 133 NEB 4703 broad.mit.edu 37 2 152381062 152381062 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:152381062C>G uc010fnx.2 - 124 17429 c.17238G>C c.(17236-17238)AAG>AAC p.K5746N NEB_uc002txr.2_Missense_Mutation_p.K2169N|NEB_uc002txt.3_Missense_Mutation_p.K251N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5746 Nebulin 157. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GTGTGGCCTTCTTGATGTCTG 0.498 NaN 0 0 0 0.01441 0 73 124 XIRP2 129446 broad.mit.edu 37 2 168103798 168103798 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:168103798C>T uc002udx.2 + 8 5914 c.5896C>T c.(5896-5898)CAG>TAG p.Q1966* XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.Q1791*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.Q1744*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1791 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGATATTCATCAGGTTGCTGT 0.448 NaN 0 0 0 0.006122 0 18 20 KBTBD10 10324 broad.mit.edu 37 2 170356086 170356086 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:170356086T>C uc010zdh.1 + 9 830 c.772T>C c.(772-774)TCT>CCT p.S258P BBS5_uc002uet.2_Missense_Mutation_p.S258P|BBS5_uc010fpw.2_Missense_Mutation_p.S237P NM_152384 NP_689597 O60662 KBTBA_HUMAN Bardet-Biedl syndrome 5 Error:Variant_position_missing_in_O60662_after_alignment striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 CAAAGTCTATTCTGCCAGTCC 0.333 NaN 0 0 0 0.000602 0 3 120 MAP1D 254042 broad.mit.edu 37 2 172928567 172928567 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:172928567C>G uc002uhk.2 + 3 400 c.327C>G c.(325-327)CTC>CTG p.L109L MAP1D_uc010zdw.1_5'UTR NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN methionine aminopeptidase 1D precursor 109 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) ACGTCCTCCTCTTGGCTGGGA 0.488 NaN 0 0 0 0.009535 0 23 32 ASNSD1 54529 broad.mit.edu 37 2 190531483 190531483 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:190531483G>A uc002uqt.2 + 4 1059 c.625G>A c.(625-627)GAA>AAA p.E209K NM_019048 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 209 asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) GAATATTATTGAAGAAAATGT 0.338 NaN 0 0 0 0.004007 0 15 52 STAT1 6772 broad.mit.edu 37 2 191841752 191841752 + Splice_Site SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:191841752C>G uc002usj.2 - 22 2262 c.1874_splice c.e22-1 p.E625_splice STAT1_uc010fse.1_Splice_Site_p.E625_splice|STAT1_uc002usk.2_Splice_Site_p.E625_splice|STAT1_uc002usl.2_Splice_Site_p.E627_splice NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) AAGTCAGGTTCTAAAAAGGAG 0.403 NaN 0 0 0 0.004656 0 23 45 CFLAR 8837 broad.mit.edu 37 2 202025318 202025318 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:202025318G>A uc002uxb.3 + 9 1409 c.957G>A c.(955-957)CAG>CAA p.Q319Q CFLAR_uc010zhk.1_Silent_p.Q223Q|CFLAR_uc002uxc.3_Silent_p.Q284Q|CFLAR_uc010zhl.1_Silent_p.Q223Q|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.Q319Q|CFLAR_uc002uxf.2_Silent_p.Q319Q|CFLAR_uc010fsy.2_Intron|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Silent_p.Q223Q|CFLAR_uc010fsz.2_Silent_p.Q74Q|CFLAR_uc002uxg.2_Silent_p.Q74Q|uc002uxh.1_5'Flank NM_003879 NP_003870 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator isoform 319 Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Caspase.|Interaction with caspase-8 subunits p18 and p10. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding 0 GAGGCTCCCAGAGTGTGTATG 0.537 NaN 0 0 0 0.01441 0 42 76 NBEAL1 65065 broad.mit.edu 37 2 204016211 204016211 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:204016211A>T uc002uzt.3 + 34 5732 c.5399A>T c.(5398-5400)AAG>ATG p.K1800M NBEAL1_uc002uzs.3_Missense_Mutation_p.K510M NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1800 binding ovary(1)|skin(1) 2 ATTCACTGGAAGCTAGCTAAT 0.313 NaN 0 0 0 0.010729 0 8 41 ACCN4 55515 broad.mit.edu 37 2 220400035 220400035 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:220400035G>C uc002vma.2 + 5 1556 c.1542G>C c.(1540-1542)GAG>GAC p.E514D ACCN4_uc002vlz.2_Missense_Mutation_p.E533D|ACCN4_uc002vmb.2_Missense_Mutation_p.E187D NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 514 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) ACCGCAACGAGACCTACATAC 0.393 NaN 0 0 0 0.004482 0 9 9 SP140 11262 broad.mit.edu 37 2 231110622 231110622 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr2:231110622G>T uc002vql.2 + 7 824 c.709G>T c.(709-711)GAA>TAA p.E237* SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Nonsense_Mutation_p.E237*|SP140_uc002vqn.2_Nonsense_Mutation_p.E234*|SP140_uc002vqm.2_Intron|SP140_uc010fxl.2_Nonsense_Mutation_p.E237* NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 237 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGAATCAGAAGAAATGCCCAA 0.373 NaN 1 0 2.94398e-08 0.007413 3.09407e-08 11 52 PSMF1 9491 broad.mit.edu 37 20 1106163 1106163 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:1106163C>T uc002wel.3 + 3 320 c.152C>T c.(151-153)TCA>TTA p.S51L PSMF1_uc010zpo.1_5'UTR|PSMF1_uc002wem.3_Missense_Mutation_p.S51L|PSMF1_uc010zpp.1_Missense_Mutation_p.S51L|PSMF1_uc002wen.3_Missense_Mutation_p.S51L NM_178578 NP_848693 Q92530 PSMF1_HUMAN proteasome inhibitor subunit 1 51 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|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding 0 GATAAGAAGTCAGAACTGCTG 0.378 NaN 0 0 0 0.007413 0 13 37 TM9SF4 9777 broad.mit.edu 37 20 30753246 30753246 + Nonstop_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:30753246G>C uc002wxj.2 + 18 2163 c.1928G>C c.(1927-1929)TGA>TCA p.*643S TM9SF4_uc010zts.1_Nonstop_Mutation_p.*550S|TM9SF4_uc002wxk.2_Nonstop_Mutation_p.*626S|TM9SF4_uc010gdz.2_Nonstop_Mutation_p.*522S NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 643 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AAGATAGACTGATTGGAGTGG 0.537 NaN 0 0 0 0.010818 0 26 40 POFUT1 23509 broad.mit.edu 37 20 30816133 30816133 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:30816133G>A uc002wxp.2 + 5 659 c.610G>A c.(610-612)GAA>AAA p.E204K POFUT1_uc010ztt.1_Missense_Mutation_p.E96K|POFUT1_uc010ztu.1_5'UTR NM_015352 NP_056167 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 isoform 1 204 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CGTCCTAGAGGAACACAGGCC 0.557 NaN 0 0 0 0.014323 0 20 40 PLCG1 5335 broad.mit.edu 37 20 39802354 39802354 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:39802354G>A uc002xjp.1 + 29 3578 c.3457G>A c.(3457-3459)GAA>AAA p.E1153K PLCG1_uc002xjo.1_Missense_Mutation_p.E1153K|PLCG1_uc010zwe.1_Missense_Mutation_p.E818K NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 1153 C2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) CAGTAACCCTGAATTTGCCTT 0.507 NaN OREG0025953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 46 98 PTPRT 11122 broad.mit.edu 37 20 41385232 41385232 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:41385232G>C uc002xkg.2 - 6 913 c.729C>G c.(727-729)GTC>GTG p.V243V PTPRT_uc010ggj.2_Silent_p.V243V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 243 Extracellular (Potential).|Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCCTGTGGTTGACCACACGGG 0.582 NaN 0 0 0 0.004482 0 7 21 PTPRT 11122 broad.mit.edu 37 20 41419965 41419965 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:41419965G>A uc002xkg.2 - 3 540 c.356C>T c.(355-357)GCC>GTC p.A119V PTPRT_uc010ggj.2_Missense_Mutation_p.A119V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 119 Extracellular (Potential).|MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GACGTTCAAGGCCCCTGGGCT 0.597 NaN 0 0 0 0.010771 0 34 44 RIMS4 140730 broad.mit.edu 37 20 43385652 43385652 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:43385652C>G uc002xms.2 - 5 478 c.478G>C c.(478-480)GAG>CAG p.E160Q RIMS4_uc010ggu.2_Missense_Mutation_p.E161Q NM_182970 NP_892015 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 160 C2. exocytosis|neurotransmitter transport cell junction|synapse ovary(4)|central_nervous_system(1) 5 Myeloproliferative disorder(115;0.0122) ATGCCATTCTCTAGCAGGTAG 0.562 NaN 0 0 0 0.01441 0 93 205 SYS1 90196 broad.mit.edu 37 20 43995738 43995738 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:43995738C>T uc002xnv.2 + 4 712 c.454C>T c.(454-456)CCT>TCT p.P152S SYS1_uc010gha.2_RNA|SYS1_uc002xnw.1_Intron|SYS1-DBNDD2_uc002xnx.2_Intron NM_033542 NP_291020 Q8N2H4 SYS1_HUMAN SYS1 Golgi-localized integral membrane protein 152 protein transport Golgi membrane|integral to membrane skin(1) 1 Myeloproliferative disorder(115;0.0122) CAACTCAGCCCCTAAATCCAA 0.577 NaN 0 0 0 0.005524 0 33 77 UBE2C 11065 broad.mit.edu 37 20 44442074 44442074 + Splice_Site SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:44442074A>G uc002xpm.2 + 2 182 c.102_splice c.e2-2 p.R34_splice UBE2C_uc002xpl.2_Splice_Site_p.R34_splice|UBE2C_uc002xpn.2_5'UTR|UBE2C_uc002xpo.2_Splice_Site_p.R34_splice|UBE2C_uc002xpp.2_Splice_Site_p.R34_splice|UBE2C_uc002xpq.2_Splice_Site NM_007019 NP_008950 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C isoform 1 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity 0 Myeloproliferative disorder(115;0.0122) CTCTTTTTTCAGGCTACAGCA 0.542 NaN 0 0 0 0.01441 0 32 125 SLC12A5 57468 broad.mit.edu 37 20 44684813 44684813 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:44684813C>G uc010zxl.1 + 22 2957 c.2881C>G c.(2881-2883)CGA>GGA p.R961G SLC12A5_uc002xrb.2_Missense_Mutation_p.R938G NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 961 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGATGAGTCACGAGGCTCAAT 0.547 NaN 0 0 0 0.006122 0 13 31 MOCS3 27304 broad.mit.edu 37 20 49576335 49576335 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:49576335C>A uc002xvy.1 + 1 973 c.956C>A c.(955-957)TCA>TAA p.S319* DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 319 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity skin(2)|ovary(1) 3 TGTGGCTCCTCAGCCACTGAT 0.587 NaN 1 0 2.89027e-11 0.014323 3.09218e-11 19 63 GATA5 140628 broad.mit.edu 37 20 61041539 61041539 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:61041539C>T uc002ycx.1 - 4 830 c.768G>A c.(766-768)CGG>CGA p.R256R NM_080473 NP_536721 Q9BWX5 GATA5_HUMAN GATA binding protein 5 256 GATA-type 2. blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) CCTCCGAGTTCCGCCGCCACA 0.706 NaN 0 0 0 0.008291 0 7 10 SLCO4A1 28231 broad.mit.edu 37 20 61299480 61299480 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr20:61299480C>A uc002ydb.1 + 9 1960 c.1755C>A c.(1753-1755)TTC>TTA p.F585L SLCO4A1_uc002ydc.1_Intron|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Intron NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 585 Helical; Name=10; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) TTTTCATATTCGTTGTAATTT 0.488 NaN OREG0026115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.6726e-16 0.003954 3.94492e-16 23 56 TPTE 7179 broad.mit.edu 37 21 10906963 10906963 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:10906963A>T uc002yip.1 - 24 1966 c.1598T>A c.(1597-1599)GTG>GAG p.V533E TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V515E|TPTE_uc002yir.1_Missense_Mutation_p.V495E|TPTE_uc010gkv.1_Missense_Mutation_p.V395E NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 533 C2 tensin-type. 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) AAGTATCTCCACGGCAAAATC 0.353 NaN 0 0 0 0.001855 0 11 85 CXADR 1525 broad.mit.edu 37 21 18933792 18933792 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:18933792C>T uc002yki.2 + 6 949 c.831C>T c.(829-831)ATC>ATT p.I277I CXADR_uc002ykh.1_Intron|CXADR_uc010gld.1_Intron|CXADR_uc010gle.1_Intron|CXADR_uc002ykj.1_Silent_p.I250I NM_001338 NP_001329 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 277 Cytoplasmic (Potential). blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity ovary(1) 1 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) ATCACGATATCAGGTAATTAA 0.363 NaN 0 0 0 0.00278 0 16 25 TIAM1 7074 broad.mit.edu 37 21 32598123 32598123 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:32598123C>T uc002yow.1 - 8 2200 c.1728G>A c.(1726-1728)ATG>ATA p.M576I TIAM1_uc011adk.1_Missense_Mutation_p.M576I|TIAM1_uc011adl.1_Missense_Mutation_p.M576I|TIAM1_uc002yox.1_Missense_Mutation_p.M184I NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 576 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 TCTTTTCATCCATGTCAATCT 0.448 NaN 0 0 0 0.003954 0 22 45 SFRS15 57466 broad.mit.edu 37 21 33069064 33069064 + Splice_Site SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:33069064C>T uc002ypd.2 - 8 1204 c.778_splice c.e8-1 p.K260_splice SFRS15_uc002ype.2_Splice_Site_p.K260_splice|SFRS15_uc010glu.2_Splice_Site_p.K245_splice|SFRS15_uc002ypf.1_Intron NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform nucleus nucleotide binding|RNA binding 0 CAAGCAACTTCTGGAATAATT 0.388 NaN 0 0 0 0.008361 0 23 50 IL10RB 3588 broad.mit.edu 37 21 34640812 34640812 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:34640812C>T uc002yrk.1 + 2 262 c.163C>T c.(163-165)CAG>TAG p.Q55* IL10RB_uc002yrh.1_Nonsense_Mutation_p.Q125*|IL10RB_uc002yri.1_Intron|uc002yrj.1_5'Flank|IL10RB_uc002yrl.1_Nonsense_Mutation_p.Q57* NM_000628 NP_000619 Q08334 I10R2_HUMAN interleukin 10 receptor, beta precursor 55 Extracellular (Potential). immune response|inflammatory response interleukin-28 receptor complex protein binding|receptor activity 0 TTTCACAGCTCAGTACCTAAG 0.532 NaN 0 0 0 0.014323 0 20 60 IFNAR1 3454 broad.mit.edu 37 21 34717650 34717650 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:34717650C>T uc002yrn.2 + 6 919 c.772C>T c.(772-774)CAA>TAA p.Q258* IFNAR1_uc011adv.1_Nonsense_Mutation_p.Q189* NM_000629 NP_000620 P17181 INAR1_HUMAN interferon-alpha receptor 1 precursor 258 Fibronectin type-III 2.|Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity central_nervous_system(1)|skin(1) 2 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CATGACCTTTCAAGTTCAGTG 0.378 NaN 0 0 0 0.001855 0 9 30 ITSN1 6453 broad.mit.edu 37 21 35166747 35166747 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:35166747G>C uc002yta.1 + 17 2195 c.1927G>C c.(1927-1929)GAA>CAA p.E643Q DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E643Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E606Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E643Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E606Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E527Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E643Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E606Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E643Q|ITSN1_uc002ytc.1_Missense_Mutation_p.E643Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E606Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E643Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E577Q NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 643 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CATAGAATTAGAAAAACAAAA 0.383 NaN 0 0 0 0.00245 0 11 23 ERG 2078 broad.mit.edu 37 21 39817505 39817505 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:39817505C>G uc010gnw.2 - 4 374 c.79G>C c.(79-81)GAG>CAG p.E27Q ERG_uc002yxa.2_Missense_Mutation_p.E20Q|ERG_uc011aek.1_Intron|ERG_uc010gnv.2_Intron|ERG_uc010gnx.2_Missense_Mutation_p.E27Q|ERG_uc011ael.1_Missense_Mutation_p.E27Q|ERG_uc002yxb.2_Missense_Mutation_p.E27Q|ERG_uc011aem.1_Missense_Mutation_p.E20Q|ERG_uc002yxc.3_Missense_Mutation_p.E27Q NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 27 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) TAGGCACACTCAAACAACGAC 0.502 NaN 0 0 0 0.00333 0 18 40 IGSF5 150084 broad.mit.edu 37 21 41142978 41142978 + Nonsense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:41142978C>G uc002yyo.2 + 4 657 c.554C>G c.(553-555)TCA>TGA p.S185* NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 185 Ig-like V-type 2.|Extracellular (Potential). integral to membrane|tight junction 0 Prostate(19;5.35e-06) GTCAGCCATTCAAGCTATTAT 0.537 NaN 0 0 0 0.004007 0 13 29 TMPRSS3 64699 broad.mit.edu 37 21 43800263 43800263 + Silent SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:43800263C>A uc002zbb.2 - 10 1212 c.1011G>T c.(1009-1011)GTG>GTT p.V337V TMPRSS3_uc002zay.2_Silent_p.V95V|TMPRSS3_uc002zaz.2_Silent_p.V210V|TMPRSS3_uc002zba.2_Silent_p.V210V|TMPRSS3_uc002zbc.2_Silent_p.V337V NM_024022 NP_076927 P57727 TMPS3_HUMAN transmembrane protease, serine 3 isoform 1 337 Peptidase S1.|Extracellular (Potential). cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity ovary(2)|breast(1) 3 ACGTCCAGCACACTTTTCCAT 0.557 NaN 1 0 1.024e-07 0.000602 1.0741e-07 3 46 PFKL 5211 broad.mit.edu 37 21 45743762 45743762 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:45743762C>T uc002zel.2 + 16 1670 c.1611C>T c.(1609-1611)TTC>TTT p.F537F PFKL_uc002zek.2_Silent_p.F584F|PFKL_uc002zem.2_Silent_p.F124F|PFKL_uc002zen.2_Silent_p.F124F NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 537 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) GCACCGACTTCAGCCTGGGCT 0.652 NaN 0 0 0 0.008871 0 13 28 C21orf29 54084 broad.mit.edu 37 21 45948467 45948467 + Splice_Site SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr21:45948467C>G uc002zfe.1 - 6 857 c.791_splice c.e6-1 p.E264_splice C21orf29_uc010gpv.1_Splice_Site_p.E196_splice NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor cell adhesion extracellular region structural molecule activity 0 ATGTTGGTTTCTGAGGGGAAG 0.597 NaN 0 0 0 0.006122 0 15 15 VPREB1 7441 broad.mit.edu 37 22 22599468 22599468 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:22599468A>T uc002zvx.1 + 2 183 c.157A>T c.(157-159)AGC>TGC p.S53C LOC96610_uc011aim.1_Intron NM_007128 NP_009059 P12018 VPREB_HUMAN immunoglobulin iota chain precursor 53 Ig-like V-type.|Complementarity-determining-1. immune response extracellular region antigen binding|protein binding 0 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) CGGTGTGTACAGCGTCTACTG 0.627 NaN 0 0 0 0.004482 0 6 430 GSTT1 2952 broad.mit.edu 37 22 24376503 24376503 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:24376503G>A uc002zze.3 - 5 696 c.643C>T c.(643-645)CTG>TTG p.L215L GSTT1_uc002zzf.3_RNA|GSTT1_uc010gug.2_RNA|GSTT1_uc011ajl.1_Silent_p.L97L|GSTT1_uc010guh.2_RNA NM_000853 NP_000844 P30711 GSTT1_HUMAN glutathione S-transferase theta 1 215 GST C-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity ovary(1) 1 Glutathione(DB00143) TTGGCCTTCAGAATGACCTCA 0.622 NaN Myelodysplasia_and_Acute_Myeloid_Leukemia_(AML)_Familial 0 0 0 0.013726 0 28 113 PIWIL3 440822 broad.mit.edu 37 22 25150040 25150040 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:25150040C>G uc003abd.1 - 8 1335 c.918G>C c.(916-918)CAG>CAC p.Q306H PIWIL3_uc011ajx.1_Missense_Mutation_p.Q197H|PIWIL3_uc011ajy.1_Missense_Mutation_p.Q197H|PIWIL3_uc010gut.1_Missense_Mutation_p.Q306H NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 306 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 TGTTTCCTGTCTGGGCCTGGG 0.388 NaN 0 0 0 0.01441 0 52 296 MN1 4330 broad.mit.edu 37 22 28195117 28195117 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:28195117G>A uc003adj.2 - 1 2370 c.1415C>T c.(1414-1416)TCG>TTG p.S472L NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 472 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 GCCGTTCCACGAAGCGCAGCG 0.662 NaN T ETV6 AML|meningioma 0 0 0 0.003163 0 13 6 MOV10L1 54456 broad.mit.edu 37 22 50530602 50530602 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:50530602G>C uc003bjj.2 + 2 353 c.270G>C c.(268-270)CTG>CTC p.L90L MOV10L1_uc003bjk.3_Silent_p.L90L|MOV10L1_uc011arp.1_Silent_p.L70L|MOV10L1_uc010han.2_Silent_p.L70L NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 90 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CCAATGGACTGAAAGCAATCA 0.418 NaN 0 0 0 0.004878 0 29 13 PLXNB2 23654 broad.mit.edu 37 22 50726223 50726223 + Splice_Site SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr22:50726223C>A uc003bkv.3 - 7 1588 c.1482_splice c.e7-1 p.R494_splice NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCGGGTGCATCTGCAGGCGCA 0.706 NaN 1 0 3.86212e-05 0.008291 3.9657e-05 8 6 JAGN1 84522 broad.mit.edu 37 3 9935060 9935060 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:9935060G>A uc003btt.3 + 2 687 c.551G>A c.(550-552)TGA>TAA p.*184* CIDEC_uc003bto.2_Intron NM_032492 NP_115881 Q8N5M9 JAGN1_HUMAN jagunal homolog 1 184 endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Medulloblastoma(99;0.227) AAGCATAAATGAAGCCTCTTT 0.488 NaN 0 0 0 0.009096 0 4 10 IL17RE 132014 broad.mit.edu 37 3 9956431 9956431 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:9956431C>G uc003btu.2 + 16 1534 c.1417C>G c.(1417-1419)CTG>GTG p.L473V CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Missense_Mutation_p.L473V|IL17RE_uc003btx.2_Missense_Mutation_p.L357V|IL17RE_uc010hcq.2_Missense_Mutation_p.S497C|IL17RE_uc003bty.2_RNA NM_153483 NP_705616 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E isoform 1 473 Helical; (Potential). cytoplasm|extracellular region|integral to membrane receptor activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) GGGTGTTGTTCTGGCCCTCAC 0.617 NaN 0 0 0 0.01441 0 49 63 CAND2 23066 broad.mit.edu 37 3 12859276 12859276 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:12859276G>A uc003bxk.2 + 10 2894 c.2845G>A c.(2845-2847)GAG>AAG p.E949K CAND2_uc003bxj.2_Missense_Mutation_p.E856K NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 949 HEAT 20. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 CGAGGGTGCTGAGGAGGGCAC 0.672 NaN 0 0 0 0.01441 0 91 57 SH3BP5 9467 broad.mit.edu 37 3 15297659 15297659 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:15297659G>A uc003bzp.1 - 9 1491 c.1302C>T c.(1300-1302)CTC>CTT p.L434L SH3BP5_uc010hem.1_RNA|SH3BP5_uc003bzq.1_Silent_p.L277L|SH3BP5_uc003bzr.1_Silent_p.L277L|uc003bzo.1_RNA NM_004844 NP_004835 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 434 L->A: No change of phosphorylation or binding by phospho-JNK; when associated with A-436. intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding 0 ACTGTAGGGAGAGCTGCTTCA 0.378 NaN 0 0 0 0.01441 0 170 150 DYNC1LI1 51143 broad.mit.edu 37 3 32582547 32582547 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:32582547T>C uc003cfb.3 - 5 808 c.720A>G c.(718-720)GTA>GTG p.V240V DYNC1LI1_uc011axh.1_Silent_p.V124V NM_016141 NP_057225 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 240 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity ovary(1) 1 AAACTACTAGTACTGGAATGC 0.413 NaN 0 0 0 0.004878 0 26 440 CNOT10 25904 broad.mit.edu 37 3 32814971 32814971 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:32814971G>C uc003cfc.1 + 19 2358 c.2103G>C c.(2101-2103)CAG>CAC p.Q701H CNOT10_uc003cfd.1_Missense_Mutation_p.Q700H|CNOT10_uc003cfe.1_Missense_Mutation_p.Q674H|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Missense_Mutation_p.Q761H|CNOT10_uc010hfw.1_Missense_Mutation_p.Q396H NM_015442 NP_056257 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 701 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding central_nervous_system(1)|skin(1) 2 TGGCCTTACAGATCATCAAAA 0.443 NaN 0 0 0 0.01441 0 116 315 DLEC1 9940 broad.mit.edu 37 3 38080973 38080973 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:38080973C>T uc003cho.1 + 1 278 c.257C>T c.(256-258)TCG>TTG p.S86L DLEC1_uc003chp.1_Missense_Mutation_p.S86L|DLEC1_uc010hgv.1_Missense_Mutation_p.S86L NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 86 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CGCCCCTCCTCGCTGCGCACC 0.652 NaN 0 0 0 0.009535 0 26 64 XIRP1 165904 broad.mit.edu 37 3 39228574 39228574 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:39228574C>T uc003cjk.1 - 2 2584 c.2363G>A c.(2362-2364)GGA>GAA p.G788E XIRP1_uc003cji.2_Missense_Mutation_p.G788E|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 788 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GAGGATGCCTCCATGGTGCAG 0.622 NaN 0 0 0 0.004878 0 35 35 XIRP1 165904 broad.mit.edu 37 3 39228623 39228623 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:39228623C>T uc003cjk.1 - 2 2535 c.2314G>A c.(2314-2316)GAG>AAG p.E772K XIRP1_uc003cji.2_Missense_Mutation_p.E772K|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 772 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGGGTCCCCTCAGCTGCAGTC 0.632 NaN 0 0 0 0.013726 0 27 35 ZNF502 91392 broad.mit.edu 37 3 44763165 44763165 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:44763165C>T uc011baa.1 + 4 1111 c.856C>T c.(856-858)CAG>TAG p.Q286* ZNF502_uc003cns.2_Nonsense_Mutation_p.Q286*|ZNF502_uc011bab.1_Nonsense_Mutation_p.Q286*|ZNF502_uc003cnt.2_Nonsense_Mutation_p.Q286* NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 286 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TATTCATCATCAGAGAATTCA 0.403 NaN 0 0 0 0.01441 0 169 261 USP4 7375 broad.mit.edu 37 3 49372916 49372916 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:49372916G>A uc003cwq.2 - 2 294 c.215C>T c.(214-216)TCT>TTT p.S72F USP4_uc003cwr.2_Missense_Mutation_p.S72F NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 72 DUSP. negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) AAATAGCCCAGAGTTGTCTAT 0.453 NaN 0 0 0 0.01441 0 45 59 HYAL1 3373 broad.mit.edu 37 3 50340340 50340340 + Silent SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:50340340G>T uc003czp.2 - 2 180 c.48C>A c.(46-48)CTC>CTA p.L16L HYAL1_uc003czm.2_Intron|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Silent_p.L16L|HYAL1_uc003czr.2_Silent_p.L16L|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Silent_p.L16L|HYAL1_uc003czt.2_Silent_p.L16L NM_033159 NP_149349 Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 isoform 1 16 extracellular space|lysosome hyalurononglucosaminidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) GGGCCATATCGAGTAAGGTCA 0.627 NaN 1 0 3.01185e-09 0.003954 3.18412e-09 21 45 DNAH1 25981 broad.mit.edu 37 3 52417423 52417423 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:52417423G>A uc011bef.1 + 51 8224 c.7963G>A c.(7963-7965)GAA>AAA p.E2655K DNAH1_uc003ddv.2_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2655 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCCTTCCTGGAAGATATCAA 0.522 NaN 0 0 0 0.008361 0 27 46 NEK4 6787 broad.mit.edu 37 3 52775460 52775460 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:52775460G>A uc003dfq.3 - 13 2249 c.2060C>T c.(2059-2061)TCA>TTA p.S687L NEK4_uc011bej.1_Missense_Mutation_p.S598L|NEK4_uc003dfr.2_Missense_Mutation_p.S641L NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 687 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) CTTATCAGTTGAACTTGTAGA 0.328 NaN 0 0 0 0.01441 0 52 94 ASB14 142686 broad.mit.edu 37 3 57312522 57312522 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:57312522C>T uc003diq.2 - 8 1410 c.822G>A c.(820-822)AGG>AGA p.R274R ASB14_uc003dip.1_Silent_p.R153R NM_001142733 NP_001136205 A6NK59 ASB14_HUMAN ankyrin repeat and SOCS box-containing 14 438 ANK 11. intracellular signal transduction 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TCAGCAGCATCCTGAGCATGA 0.453 NaN 0 0 0 0.01441 0 108 152 PTPRG 5793 broad.mit.edu 37 3 62189597 62189597 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:62189597G>C uc003dlb.2 + 12 2847 c.2128G>C c.(2128-2130)GAC>CAC p.D710H PTPRG_uc003dlc.2_Missense_Mutation_p.D710H NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 710 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ATTTTCTGAAGACAGCAGATT 0.512 NaN 0 0 0 0.00632 0 20 54 SYNPR 132204 broad.mit.edu 37 3 63542282 63542282 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:63542282G>C uc003dlq.2 + 3 582 c.213G>C c.(211-213)TTG>TTC p.L71F SYNPR_uc003dlp.2_Missense_Mutation_p.L91F|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_Intron|SYNPR_uc010hnt.2_Missense_Mutation_p.L80F|SYNPR_uc011bfm.1_Intron NM_144642 NP_653243 Q8TBG9 SYNPR_HUMAN synaptoporin isoform 2 71 MARVEL.|Vesicular (Potential). cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) AGCTGGCATTGATTGGTGACT 0.488 NaN 0 0 0 0.013537 0 12 21 ROBO1 6091 broad.mit.edu 37 3 78649319 78649319 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:78649319C>G uc003dqe.2 - 30 5093 c.4885G>C c.(4885-4887)GAA>CAA p.E1629Q ROBO1_uc003dqb.2_Missense_Mutation_p.E1590Q|ROBO1_uc003dqc.2_Missense_Mutation_p.E1529Q|ROBO1_uc003dqd.2_Missense_Mutation_p.E1584Q|ROBO1_uc010hoh.2_Missense_Mutation_p.E821Q NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1629 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ACCTGCATTTCTGCAATATTT 0.378 NaN 0 0 0 0.013537 0 9 28 VGLL3 389136 broad.mit.edu 37 3 87018080 87018080 + Silent SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:87018080A>G uc003dqn.2 - 3 961 c.597T>C c.(595-597)CCT>CCC p.P199P NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CAGCAGGGGGAGGGGCTGGGC 0.587 NaN 0 0 0 0.004672 0 3 153 KIAA2018 205717 broad.mit.edu 37 3 113378792 113378792 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:113378792C>G uc003eam.2 - 7 2148 c.1737G>C c.(1735-1737)CAG>CAC p.Q579H KIAA2018_uc003eal.2_Missense_Mutation_p.Q523H NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 579 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TGATTACTATCTGTTGACCTA 0.468 NaN 0 0 0 0.013537 0 8 159 DRD3 1814 broad.mit.edu 37 3 113847752 113847752 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:113847752G>A uc003ebd.2 - 8 1437 c.1014C>T c.(1012-1014)TTC>TTT p.F338F DRD3_uc010hqn.1_Silent_p.F338F|DRD3_uc003ebb.1_Silent_p.F305F|DRD3_uc003ebc.1_Silent_p.F338F NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 338 Helical; Name=6. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AGCAGACAATGAAGGCCCCTA 0.453 NaN 0 0 0 0.005524 0 32 60 MYLK 4638 broad.mit.edu 37 3 123419015 123419015 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:123419015G>C uc003ego.2 - 18 3582 c.3300C>G c.(3298-3300)TTC>TTG p.F1100L MYLK_uc011bjw.1_Missense_Mutation_p.F1100L|MYLK_uc003egp.2_Missense_Mutation_p.F1031L|MYLK_uc003egq.2_Missense_Mutation_p.F1100L|MYLK_uc003egr.2_Missense_Mutation_p.F1031L|MYLK_uc003egs.2_Missense_Mutation_p.F924L|MYLK_uc003egt.2_Missense_Mutation_p.F291L NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1100 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCTTCTGCTTGAAGGCTGGGG 0.532 NaN 0 0 0 0.007835 0 36 62 KALRN 8997 broad.mit.edu 37 3 124413237 124413237 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:124413237G>A uc003ehg.2 + 53 7591 c.7464G>A c.(7462-7464)GTG>GTA p.V2488V KALRN_uc003ehk.2_Silent_p.V791V NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2487 Ig-like C2-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GGGACACAGTGATACTGCAGT 0.493 NaN 0 0 0 0.01441 0 48 104 HEG1 57493 broad.mit.edu 37 3 124739800 124739800 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:124739800G>C uc003ehs.3 - 4 1156 c.1088C>G c.(1087-1089)TCC>TGC p.S363C HEG1_uc011bke.1_Missense_Mutation_p.S363C NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 363 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 GGCAATTCTGGAGTCCTTGGG 0.527 NaN 0 0 0 0.001855 0 13 32 ZXDC 79364 broad.mit.edu 37 3 126185066 126185066 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:126185066C>G uc003eiv.2 - 5 1427 c.1373G>C c.(1372-1374)TGC>TCC p.C458S ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.C458S NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 458 C2H2-type 10. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) GAGTCTGTTGCAGGTAGAAAC 0.572 NaN 0 0 0 0.00632 0 20 43 RUVBL1 8607 broad.mit.edu 37 3 127800229 127800229 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:127800229G>A uc003ekh.2 - 11 1339 c.1235C>T c.(1234-1236)CCG>CTG p.P412L RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Silent_p.P381P NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 412 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) CAAGTTGGCCGGGGTCAGCAG 0.537 NaN 0 0 0 0.009096 0 3 48 COL6A6 131873 broad.mit.edu 37 3 130282479 130282479 + Missense_Mutation SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:130282479A>G uc010htl.2 + 2 663 c.632A>G c.(631-633)GAG>GGG p.E211G NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 211 Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AAGTACAAGGAGGGAGCAGTT 0.403 NaN 0 0 0 0.001168 0 4 59 DNAJC13 23317 broad.mit.edu 37 3 132213965 132213965 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:132213965C>G uc003eor.2 + 35 4040 c.3975C>G c.(3973-3975)TTC>TTG p.F1325L NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1325 J. heat shock protein binding ovary(1)|breast(1) 2 AAGCTTACTTCAGACTTGCAC 0.378 NaN 0 0 0 0.008871 0 16 36 NMD3 51068 broad.mit.edu 37 3 160968072 160968072 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:160968072G>A uc003feb.1 + 15 1458 c.1339G>A c.(1339-1341)GAA>AAA p.E447K NMD3_uc003fec.2_Missense_Mutation_p.E447K|NMD3_uc003fed.1_Missense_Mutation_p.E447K NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 447 Necessary for the nuclear export of the 60S ribosomal subunit. protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TGAAGATCTTGAAGAAGATGA 0.279 NaN 0 0 0 0.003954 0 16 30 GHSR 2693 broad.mit.edu 37 3 172165775 172165775 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:172165775G>A uc003fib.1 - 1 429 c.429C>T c.(427-429)TTC>TTT p.F143F GHSR_uc011bpv.1_Silent_p.F143F NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 143 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGCAGATGGCGAAGTAGCGCT 0.627 NaN 0 0 0 0.008291 0 10 29 EHHADH 1962 broad.mit.edu 37 3 184922354 184922354 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:184922354C>T uc003fpf.2 - 6 787 c.760G>A c.(760-762)GAG>AAG p.E254K EHHADH_uc011brs.1_Missense_Mutation_p.E158K NM_001966 NP_001957 Q08426 ECHP_HUMAN enoyl-Coenzyme A, hydratase/3-hydroxyacyl 254 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity ovary(3) 3 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) AGAAACAGCTCCTCCTCCTTC 0.537 NaN 0 0 0 0.01441 0 44 104 ATP13A3 79572 broad.mit.edu 37 3 194159590 194159590 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:194159590C>G uc003fty.3 - 16 2224 c.1822G>C c.(1822-1824)GAA>CAA p.E608Q ATP13A3_uc003ftz.1_Missense_Mutation_p.E314Q NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 608 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CTCACCATTTCTTGGTTTCCT 0.318 NaN 0 0 0 0.01441 0 40 94 MUC20 200958 broad.mit.edu 37 3 195451911 195451911 + Missense_Mutation SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:195451911A>C uc010hzo.2 + 2 563 c.437A>C c.(436-438)GAT>GCT p.D146A MUC20_uc010hzp.2_Missense_Mutation_p.D111A|MUC20_uc011bte.1_5'Flank NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CTTTGCACCGATGACAGCTCT 0.557 NaN 0 0 0 0.01441 0 17 343 LMLN 89782 broad.mit.edu 37 3 197701923 197701923 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:197701923G>A uc011buo.1 + 3 350 c.328G>A c.(328-330)GAG>AAG p.E110K LMLN_uc003fyt.2_Missense_Mutation_p.E58K|LMLN_uc010iar.2_Missense_Mutation_p.E110K|LMLN_uc010ias.2_Missense_Mutation_p.E58K|LMLN_uc003fyu.2_5'UTR NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 110 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) GTTGCTCCCTGAGAAAAAGAA 0.164 NaN 0 0 0 0.004878 0 28 69 MFSD7 84179 broad.mit.edu 37 4 675782 675782 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:675782G>A uc003gay.2 - 10 1705 c.1648C>T c.(1648-1650)CAC>TAC p.H550Y MYL5_uc003gat.2_RNA|MYL5_uc003gau.2_RNA|MYL5_uc003gav.2_Silent_p.*174*|MFSD7_uc003gaw.2_Missense_Mutation_p.H292Y|MFSD7_uc003gax.2_Missense_Mutation_p.H549Y|MFSD7_uc003gaz.2_Missense_Mutation_p.H431Y|MFSD7_uc003gba.2_Missense_Mutation_p.H453Y|MFSD7_uc003gbb.1_3'UTR NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 550 transmembrane transport integral to membrane 0 AAGGAGGAGTGAGACCCAGCC 0.657 NaN 0 0 0 0.00308 0 5 24 GSX2 170825 broad.mit.edu 37 4 54968002 54968002 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:54968002G>C uc010igp.1 + 2 1092 c.828G>C c.(826-828)GGG>GGC p.G276G PDGFRA_uc003haa.2_Intron NM_133267 NP_573574 Q9BZM3 GSX2_HUMAN GS homeobox 2 276 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) AGTGCGTCGGGAGCCAGGTGC 0.607 NaN 0 0 0 0.006214 0 10 25 LPHN3 23284 broad.mit.edu 37 4 62758676 62758676 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:62758676G>A uc010ihh.2 + 7 1752 c.1579G>A c.(1579-1581)GGT>AGT p.G527S LPHN3_uc003hcq.3_Missense_Mutation_p.G527S|LPHN3_uc003hcs.1_Missense_Mutation_p.G356S NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 527 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 AGGAACTATAGGTAAGTCTGT 0.353 NaN 0 0 0 0.004672 0 2 5 ALB 213 broad.mit.edu 37 4 74279157 74279157 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:74279157C>T uc003hgs.3 + 8 937 c.864C>T c.(862-864)ATC>ATT p.I288I ALB_uc003hgw.3_Silent_p.I96I|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Silent_p.I288I|ALB_uc010iii.2_Silent_p.I173I|ALB_uc003hgu.3_Silent_p.I138I|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_Silent_p.I178I|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'UTR NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 288 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CCAAGTATATCTGTGAAAATC 0.403 NaN 0 0 0 0.00623 0 31 44 SEPT11 55752 broad.mit.edu 37 4 77917662 77917662 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:77917662C>G uc003hkj.2 + 2 274 c.112C>G c.(112-114)CAA>GAA p.Q38E SEPT11_uc010ijh.1_Missense_Mutation_p.Q30E|SEPT11_uc011cca.1_Missense_Mutation_p.Q48E NM_018243 NP_060713 Q9NVA2 SEP11_HUMAN septin 11 38 cell cycle|cell division|protein heterooligomerization axon|cell junction|dendritic spine|septin complex|stress fiber|synapse GTP binding|protein binding 0 GTCTACTTCTCAAGGATTCTG 0.438 NaN 0 0 0 0.004007 0 10 60 HNRPDL 9987 broad.mit.edu 37 4 83350483 83350483 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:83350483C>G uc003hmr.2 - 1 896 c.361G>C c.(361-363)GAG>CAG p.E121Q ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.E121Q NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 121 regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) TTCATATCCTCCATAGTGACG 0.587 NaN 0 0 0 0.01441 0 67 63 AFF1 4299 broad.mit.edu 37 4 87967934 87967934 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:87967934C>T uc003hqj.3 + 3 633 c.226C>T c.(226-228)CAC>TAC p.H76Y AFF1_uc011ccx.1_Missense_Mutation_p.H17Y|AFF1_uc003hqh.1_Missense_Mutation_p.H83Y|AFF1_uc011ccy.1_Missense_Mutation_p.H83Y|AFF1_uc011ccz.1_Missense_Mutation_p.H83Y|AFF1_uc003hqk.3_Missense_Mutation_p.H76Y|AFF1_uc011cda.1_Intron NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 76 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TACTAAGTCTCACACTCATCG 0.438 NaN 0 0 0 0.01441 0 70 275 AFF1 4299 broad.mit.edu 37 4 88036278 88036278 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:88036278C>T uc003hqj.3 + 11 2679 c.2272C>T c.(2272-2274)CCA>TCA p.P758S AFF1_uc011ccz.1_Missense_Mutation_p.P765S|AFF1_uc003hqk.3_Missense_Mutation_p.P758S|AFF1_uc011cda.1_Missense_Mutation_p.P396S NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 758 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CACTCCTCCCCCACAAAGCTT 0.597 NaN 0 0 0 0.01441 0 50 90 GLRB 2743 broad.mit.edu 37 4 158091590 158091590 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr4:158091590G>A uc003ipj.2 + 10 1406 c.1204G>A c.(1204-1206)GAG>AAG p.E402K NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 402 Cytoplasmic (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TTAGGTTGGTGAGACCAGATG 0.308 NaN 0 0 0 0.012319 0 17 7 KIAA0947 23379 broad.mit.edu 37 5 5465303 5465303 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:5465303G>C uc003jdm.3 + 13 6078 c.5856G>C c.(5854-5856)GAG>GAC p.E1952D NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1952 ovary(1)|central_nervous_system(1) 2 GAGATCAAGAGAAGGAAGTTG 0.368 NaN 0 0 0 0.004672 0 2 6 PRDM9 56979 broad.mit.edu 37 5 23527167 23527167 + Missense_Mutation SNP G G C rs112679149 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:23527167G>C uc003jgo.2 + 11 2152 c.1970G>C c.(1969-1971)AGA>ACA p.R657T NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 657 C2H2-type 6. 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 CACCAGAGGAGACACACAGGG 0.607 NaN HNSCC(3;0.000094) 0 0 0 0.000602 0 3 109 C5orf42 65250 broad.mit.edu 37 5 37115115 37115115 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:37115115C>A uc011cpa.1 - 50 9416 c.9185G>T c.(9184-9186)GGA>GTA p.G3062V C5orf42_uc003jko.1_Missense_Mutation_p.G93V|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.G1580V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.G2155V NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 3062 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGCTTTGGCTCCACCAGCTTT 0.348 NaN 1 0 1.55795e-14 0.012319 1.67012e-14 19 14 MRPS30 10884 broad.mit.edu 37 5 44809390 44809390 + Missense_Mutation SNP T T A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:44809390T>A uc003joh.2 + 1 364 c.326T>A c.(325-327)TTC>TAC p.F109Y MRPS30_uc003joi.1_5'Flank NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 109 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) TACCAGTACTTCACCAAGACC 0.498 NaN 0 0 0 0.00632 0 21 25 MSH3 4437 broad.mit.edu 37 5 79965995 79965995 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:79965995C>A uc003kgz.2 + 4 912 c.659C>A c.(658-660)TCA>TAA p.S220* NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 220 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GCTTCCAAATCAGCTAACAAA 0.378 NaN MMR 1 0 0.00010058 0.013537 0.000102687 13 13 GPR98 84059 broad.mit.edu 37 5 90124866 90124866 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:90124866G>A uc003kju.2 + 77 16570 c.16474G>A c.(16474-16476)GAT>AAT p.D5492N GPR98_uc003kjt.2_Missense_Mutation_p.D3198N|GPR98_uc003kjw.2_Missense_Mutation_p.D1153N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5492 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) CTTAGAAAGTGATGAATCTCA 0.433 NaN 0 0 0 0.00874 0 35 34 GPR98 84059 broad.mit.edu 37 5 90124959 90124959 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:90124959G>T uc003kju.2 + 77 16663 c.16567G>T c.(16567-16569)GAT>TAT p.D5523Y GPR98_uc003kjt.2_Missense_Mutation_p.D3229Y|GPR98_uc003kjw.2_Missense_Mutation_p.D1184Y NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5523 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) GGTGGCCAGAGATTCTGGGAC 0.418 NaN 1 0 5.10314e-47 0.01441 5.65142e-47 75 53 ARRDC3 57561 broad.mit.edu 37 5 90678672 90678672 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:90678672C>G uc003kjz.2 - 1 478 c.238G>C c.(238-240)GAG>CAG p.E80Q LOC100129716_uc003kka.3_Intron NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 80 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) TTGAAATACTCTACTTCTTCA 0.378 NaN 0 0 0 0.01441 0 44 40 SHROOM1 134549 broad.mit.edu 37 5 132160501 132160501 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:132160501C>G uc003kxx.2 - 6 1852 c.1047G>C c.(1045-1047)CAG>CAC p.Q349H SHROOM1_uc003kxy.1_Missense_Mutation_p.Q349H NM_133456 NP_597713 Q2M3G4 SHRM1_HUMAN shroom family member 1 349 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding pancreas(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGCCTCTTTCTGAGGCAAGA 0.542 NaN 0 0 0 0.000602 0 4 22 SEC24A 10802 broad.mit.edu 37 5 134044472 134044472 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:134044472C>G uc003kzs.2 + 18 2909 c.2621C>G c.(2620-2622)TCC>TGC p.S874C SEC24A_uc011cxu.1_Missense_Mutation_p.S638C NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 874 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCATTGACTCCCTTTCAGCT 0.468 NaN 0 0 0 0.004878 0 33 46 ETF1 2107 broad.mit.edu 37 5 137846256 137846256 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:137846256C>G uc003ldc.3 - 9 1246 c.1081G>C c.(1081-1083)GAG>CAG p.E361Q ETF1_uc011cyv.1_Missense_Mutation_p.E347Q|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_Missense_Mutation_p.E328Q NM_004730 NP_004721 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 361 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCACATACCTCTTTGTCTGTG 0.398 NaN 0 0 0 0.004482 0 6 40 CTNNA1 1495 broad.mit.edu 37 5 138269620 138269620 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:138269620C>G uc003ldh.2 + 18 2658 c.2563C>G c.(2563-2565)CCT>GCT p.P855A CTNNA1_uc011cyx.1_Missense_Mutation_p.P752A|CTNNA1_uc011cyy.1_Missense_Mutation_p.P732A|CTNNA1_uc003ldi.2_Missense_Mutation_p.P553A|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Missense_Mutation_p.P485A NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 855 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCTCAACCTTCCTGCTGTGTC 0.478 NaN 0 0 0 0.000602 0 3 39 SH3RF2 153769 broad.mit.edu 37 5 145317639 145317639 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:145317639C>T uc003lnt.2 + 2 386 c.148C>T c.(148-150)CCC>TCC p.P50S SH3RF2_uc011dbl.1_Missense_Mutation_p.P50S NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 50 RING-type. ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGCGGTGCCCCGAATGCAG 0.592 NaN 0 0 0 0.009096 0 4 37 TLX3 30012 broad.mit.edu 37 5 170736430 170736430 + Missense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:170736430G>T uc003mbf.2 + 1 143 c.61G>T c.(61-63)GAC>TAC p.D21Y uc003mbe.1_5'Flank NM_021025 NP_066305 O43711 TLX3_HUMAN T-cell leukemia homeobox 3 21 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTCGGCATCGACCAGATCCT 0.781 NaN T BCL11B T-ALL 1 0 5.18039e-06 0.00308 5.35008e-06 6 9 BTNL8 79908 broad.mit.edu 37 5 180338519 180338519 + Missense_Mutation SNP T T G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr5:180338519T>G uc003mmp.2 + 3 812 c.578T>G c.(577-579)ATC>AGC p.I193S BTNL8_uc003mmq.2_Missense_Mutation_p.I193S|BTNL8_uc011dhg.1_Missense_Mutation_p.I68S|BTNL8_uc010jll.2_Missense_Mutation_p.I193S|BTNL8_uc010jlm.2_Missense_Mutation_p.I77S|BTNL8_uc011dhh.1_Missense_Mutation_p.I9S NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 193 Ig-like V-type 2.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATGTGGAGATCTCTCTGACC 0.552 NaN 0 0 0 0.004878 0 31 36 DUSP22 56940 broad.mit.edu 37 6 348771 348771 + Silent SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:348771T>C uc003msx.2 + 7 877 c.438T>C c.(436-438)TAT>TAC p.Y146Y DUSP22_uc011dhn.1_Silent_p.Y146Y|DUSP22_uc003msy.1_Silent_p.Y103Y NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 146 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CTCTCCAGTATCGGCAGTGGC 0.517 NaN 0 0 0 0.001984 0 5 107 CDYL 9425 broad.mit.edu 37 6 4943831 4943831 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:4943831C>T uc003mwi.2 + 7 1466 c.1335C>T c.(1333-1335)GTC>GTT p.V445V CDYL_uc003mwj.2_Silent_p.V391V|CDYL_uc003mwk.2_Silent_p.V156V|CDYL_uc011dhx.1_Silent_p.V259V|CDYL_uc011dhy.1_Silent_p.V259V NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 445 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) TTGTAGCAGTCAATGGCCCAG 0.383 NaN 0 0 0 0.00308 0 6 83 F13A1 2162 broad.mit.edu 37 6 6224981 6224981 + Missense_Mutation SNP C C T rs139164988 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:6224981C>T uc003mwv.2 - 7 1034 c.911G>A c.(910-912)CGG>CAG p.R304Q F13A1_uc011dib.1_Missense_Mutation_p.R241Q NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 304 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CTCAGAGCTCCGGTATTCCAA 0.463 NaN 0 0 0 0.013114 0 38 73 LY86 9450 broad.mit.edu 37 6 6589066 6589066 + Nonsense_Mutation SNP T T A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:6589066T>A uc003mwy.1 + 1 133 c.99T>A c.(97-99)TGT>TGA p.C33* LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron NM_004271 NP_004262 O95711 LY86_HUMAN MD-1, RP105-associated precursor 33 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane 0 Ovarian(93;0.0377) ACGTGGTCTGTAGCGACAGCG 0.572 NaN 0 0 0 0.008291 0 9 62 SYCP2L 221711 broad.mit.edu 37 6 10891745 10891745 + Splice_Site SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:10891745G>C uc003mzo.2 + 2 306 c.10_splice c.e2-1 p.K4_splice SYCP2L_uc011dim.1_Splice_Site NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) ATTCCACACAGAAAAACAAAG 0.299 NaN 0 0 0 0.004482 0 5 57 SYCP2L 221711 broad.mit.edu 37 6 10912908 10912908 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:10912908G>A uc003mzo.2 + 13 1217 c.921G>A c.(919-921)ATG>ATA p.M307I SYCP2L_uc011din.1_Missense_Mutation_p.M148I|SYCP2L_uc010jow.2_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 307 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TCTTACAGATGAGAAAACCAG 0.343 NaN 0 0 0 0.00245 0 12 51 OR2B6 26212 broad.mit.edu 37 6 27925119 27925119 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:27925119C>G uc011dkx.1 + 1 101 c.101C>G c.(100-102)TCT>TGT p.S34C NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTCTTGATTTCTTACACTGTG 0.418 NaN 0 0 0 0.012319 0 21 65 OR2B6 26212 broad.mit.edu 37 6 27925668 27925668 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:27925668C>T uc011dkx.1 + 1 650 c.650C>T c.(649-651)TCA>TTA p.S217L NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATCCTTATATCATATGCTTTT 0.423 NaN 0 0 0 0.01441 0 40 169 OR2B6 26212 broad.mit.edu 37 6 27925844 27925844 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:27925844C>T uc011dkx.1 + 1 826 c.826C>T c.(826-828)CTC>TTC p.L276F NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GATGGTTTCTCTCTTCTATGG 0.438 NaN 0 0 0 0.004007 0 14 67 ZKSCAN3 80317 broad.mit.edu 37 6 28333556 28333556 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:28333556G>A uc003nle.3 + 6 1327 c.1111G>A c.(1111-1113)GAG>AAG p.E371K ZKSCAN3_uc010jrc.2_Missense_Mutation_p.E371K|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.E223K|uc010jrd.2_5'Flank NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 371 C2H2-type 3. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 GAAGCCATATGAGTGTGAAGA 0.493 NaN 0 0 0 0.001168 0 5 80 OR2W1 26692 broad.mit.edu 37 6 29012734 29012734 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:29012734G>C uc003nlw.2 - 1 219 c.219C>G c.(217-219)TTC>TTG p.F73L NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TGCTGGTTGTGAAACATAGAT 0.428 NaN 0 0 0 0.000602 0 4 63 MDC1 9656 broad.mit.edu 37 6 30672288 30672288 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:30672288C>A uc003nrg.3 - 10 5112 c.4672G>T c.(4672-4674)GGC>TGC p.G1558C MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.G1165C NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1558 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TTTGTCCTGCCCCTAGTGGCC 0.582 NaN Other_conserved_DNA_damage_response_genes 1 0 0.000157383 0.00308 0.000160071 5 201 NFKBIL1 4795 broad.mit.edu 37 6 31516038 31516038 + Silent SNP C C T rs144376753 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:31516038C>T uc003nub.2 + 2 275 c.156C>T c.(154-156)CTC>CTT p.L52L BAT1_uc003ntv.2_5'Flank|ATP6V1G2_uc003ntz.2_5'Flank|ATP6V1G2_uc003nua.2_5'Flank|NFKBIL1_uc011dnr.1_Silent_p.L29L|NFKBIL1_uc011dns.1_Silent_p.L29L|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Silent_p.L52L NM_005007 NP_004998 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene 52 cytoplasmic sequestering of transcription factor protein binding 0 CCCAGGCCCTCCTCCAGCGAC 0.677 NaN 0 0 0 0.003954 0 19 17 MSH5 4439 broad.mit.edu 37 6 31708290 31708290 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:31708290G>A uc003nwv.1 + 2 126 c.47G>A c.(46-48)AGA>AAA p.R16K MSH5_uc003nwt.1_Missense_Mutation_p.R16K|MSH5_uc003nwu.1_Missense_Mutation_p.R16K|MSH5_uc003nww.1_Missense_Mutation_p.R16K|MSH5_uc003nwx.1_Missense_Mutation_p.R16K NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 16 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 CAGGGACCGAGACCTGGGGCG 0.582 NaN Direct_reversal_of_damage|MMR 0 0 0 0.001168 0 3 5 MSH5 4439 broad.mit.edu 37 6 31721100 31721100 + Missense_Mutation SNP C C T rs142533600 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:31721100C>T uc003nwv.1 + 11 914 c.835C>T c.(835-837)CAT>TAT p.H279Y MSH5_uc003nwt.1_Missense_Mutation_p.H296Y|MSH5_uc003nwu.1_Missense_Mutation_p.H279Y|MSH5_uc003nww.1_Missense_Mutation_p.H279Y|MSH5_uc003nwx.1_Missense_Mutation_p.H296Y|MSH5_uc011dof.1_5'UTR|MSH5_uc003nwy.1_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 279 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 ACGTCCGACTCATGACCTGGG 0.512 NaN Direct_reversal_of_damage|MMR 0 0 0 0.01441 0 104 73 C6orf10 10665 broad.mit.edu 37 6 32261066 32261066 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:32261066C>G uc011dpy.1 - 12 1557 c.1384G>C c.(1384-1386)GAG>CAG p.E462Q C6orf10_uc011dpx.1_Missense_Mutation_p.E244Q NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 462 integral to membrane skin(1) 1 ACACTCACCTCAGTGTTCTTT 0.453 NaN 0 0 0 0.013537 0 10 233 SYNGAP1 8831 broad.mit.edu 37 6 33393617 33393617 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:33393617C>G uc011dri.1 + 3 427 c.232C>G c.(232-234)CGC>GGC p.R78G SYNGAP1_uc003oeo.1_Missense_Mutation_p.R63G|SYNGAP1_uc010juy.2_Missense_Mutation_p.R63G NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 78 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 CGAGTCCAGTCGCAACAAACT 0.692 NaN 0 0 0 0.013114 0 34 52 SYNGAP1 8831 broad.mit.edu 37 6 33408987 33408987 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:33408987G>T uc011dri.1 + 12 2146 c.1951G>T c.(1951-1953)GAG>TAG p.E651* SYNGAP1_uc010juy.2_Nonsense_Mutation_p.E636*|SYNGAP1_uc010juz.2_Nonsense_Mutation_p.E363* NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 651 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 CTTCATGAATGAGTTTCTGGA 0.373 NaN 1 0 2.18419e-29 0.01441 2.40396e-29 45 32 GRM4 2914 broad.mit.edu 37 6 34059676 34059676 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:34059676C>T uc003oir.3 - 2 890 c.720G>A c.(718-720)CAG>CAA p.Q240Q GRM4_uc011dsn.1_Silent_p.Q240Q|GRM4_uc010jvh.2_Silent_p.Q240Q|GRM4_uc010jvi.2_Intron|GRM4_uc010jvk.1_Silent_p.Q159Q|GRM4_uc011dsl.1_Silent_p.Q100Q|GRM4_uc003oiq.2_Silent_p.Q107Q|GRM4_uc011dsm.1_Silent_p.Q71Q NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 240 Extracellular (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) CACGGGACTTCTGGATGAAGG 0.637 NaN 0 0 0 0.001984 0 4 24 C6orf106 64771 broad.mit.edu 37 6 34664291 34664291 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:34664291C>T uc003ojr.2 - 1 335 c.90G>A c.(88-90)GAG>GAA p.E30E C6orf106_uc003ojs.2_Silent_p.E30E NM_024294 NP_077270 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 isoform a 30 skin(2)|ovary(1) 3 GCCTCTGGAACTCGGAGATGA 0.647 NaN 0 0 0 0.001168 0 5 21 ANKS1A 23294 broad.mit.edu 37 6 34985689 34985689 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:34985689C>T uc003ojx.3 + 11 2005 c.1863C>T c.(1861-1863)CGC>CGT p.R621R ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Silent_p.R161R|ANKS1A_uc010jvp.1_Intron NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 621 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 AACTCAGCCGCAGCTTGTCCA 0.592 NaN 0 0 0 0.00333 0 20 183 SCUBE3 222663 broad.mit.edu 37 6 35211828 35211828 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:35211828G>C uc003okf.1 + 17 2166 c.2160G>C c.(2158-2160)CGG>CGC p.R720R SCUBE3_uc003okg.1_Silent_p.R719R|SCUBE3_uc003okh.1_Silent_p.R607R NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 720 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 AAGCAGGACGGACCCTATGCT 0.567 NaN 0 0 0 0.013537 0 10 22 SCUBE3 222663 broad.mit.edu 37 6 35213161 35213161 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:35213161C>A uc003okf.1 + 19 2564 c.2558C>A c.(2557-2559)TCT>TAT p.S853Y SCUBE3_uc003okg.1_Missense_Mutation_p.S852Y|SCUBE3_uc003okh.1_Missense_Mutation_p.S740Y NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 853 CUB. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 TTCCTGCCATCTGAGGATGAG 0.567 NaN 1 0 3.6726e-16 0.003954 3.94492e-16 19 61 LRFN2 57497 broad.mit.edu 37 6 40400429 40400429 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:40400429C>T uc003oph.1 - 2 889 c.424G>A c.(424-426)GAG>AAG p.E142K NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 142 LRR 4.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TCAAAAGCCTCATCTGCGATG 0.597 NaN 0 0 0 0.004878 0 33 34 UBR2 23304 broad.mit.edu 37 6 42626436 42626436 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:42626436G>A uc011dur.1 + 29 3116 c.3116G>A c.(3115-3117)AGA>AAA p.R1039K UBR2_uc011dus.1_Missense_Mutation_p.R684K|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 1039 Potential. cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GAGATTGCCAGACTGCGCAGA 0.408 NaN 0 0 0 0.00499 0 15 42 KIAA0240 23506 broad.mit.edu 37 6 42796877 42796877 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:42796877C>T uc003osn.1 + 6 957 c.806C>T c.(805-807)TCT>TTT p.S269F KIAA0240_uc003osm.1_Missense_Mutation_p.S269F|KIAA0240_uc011duw.1_Missense_Mutation_p.S269F|KIAA0240_uc003oso.1_Missense_Mutation_p.S269F|KIAA0240_uc003osp.1_Missense_Mutation_p.S269F NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 269 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) TTTGGGAACTCTAGTTCCAGT 0.453 NaN 0 0 0 0.00499 0 14 20 XPO5 57510 broad.mit.edu 37 6 43492227 43492227 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:43492227G>C uc003ovp.2 - 31 3670 c.3459C>G c.(3457-3459)CTC>CTG p.L1153L POLR1C_uc003ovo.1_Intron NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 1153 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AACCAGCAATGAGGCGTTTGA 0.473 NaN 0 0 0 0.004007 0 11 42 REV3L 5980 broad.mit.edu 37 6 111696839 111696839 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:111696839C>G uc003puy.3 - 13 3042 c.2719G>C c.(2719-2721)GAG>CAG p.E907Q REV3L_uc003pux.3_Missense_Mutation_p.E829Q|REV3L_uc003puz.3_Missense_Mutation_p.E829Q NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 907 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAGGACTGCTCAGTTTCTAAC 0.378 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.001855 0 4 57 REV3L 5980 broad.mit.edu 37 6 111696872 111696872 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:111696872C>G uc003puy.3 - 13 3009 c.2686G>C c.(2686-2688)GAC>CAC p.D896H REV3L_uc003pux.3_Missense_Mutation_p.D818H|REV3L_uc003puz.3_Missense_Mutation_p.D818H NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 896 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAGTGACAGTCTATAAAACCA 0.368 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.003163 0 6 53 RSPH4A 345895 broad.mit.edu 37 6 116949506 116949506 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:116949506C>T uc003pxe.2 + 3 1781 c.1636C>T c.(1636-1638)CAT>TAT p.H546Y RSPH4A_uc010kee.2_Missense_Mutation_p.H546Y NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 546 Glu-rich. cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 CAATTGGGTTCATCATGTACA 0.403 NaN Kartagener_syndrome 0 0 0 0.01441 0 37 120 KIAA1244 57221 broad.mit.edu 37 6 138483238 138483238 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:138483238G>A uc003qhu.2 + 1 15 c.15G>A c.(13-15)CTG>CTA p.L5L NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 5 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AAGAAATCCTGAGGAAGCTGC 0.647 NaN 0 0 0 0.009096 0 3 22 KIAA1244 57221 broad.mit.edu 37 6 138655797 138655797 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:138655797C>A uc003qhu.2 + 33 5814 c.5814C>A c.(5812-5814)TTC>TTA p.F1938L NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1938 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ACCCGTTCTTCATCCTGCCCT 0.572 NaN 1 0 5.16669e-11 0.010729 5.51662e-11 7 36 KIAA1244 57221 broad.mit.edu 37 6 138655808 138655808 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:138655808C>T uc003qhu.2 + 33 5825 c.5825C>T c.(5824-5826)TCC>TTC p.S1942F NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1942 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ATCCTGCCCTCCTTCCAGTCC 0.577 NaN 0 0 0 0.013537 0 7 30 SLC22A2 6582 broad.mit.edu 37 6 160664743 160664743 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:160664743G>A uc003qtf.2 - 7 1310 c.1140C>T c.(1138-1140)TTC>TTT p.F380F SLC22A2_uc003qte.1_Silent_p.F380F NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 380 Helical; (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) CAGAGTAGAAGAAATCCAGGT 0.527 NaN 0 0 0 0.00333 0 19 52 CARD11 84433 broad.mit.edu 37 7 2978460 2978460 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:2978460C>T uc003smv.2 - 7 1274 c.870G>A c.(868-870)GGG>GGA p.G290G NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 290 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GGCTGCGCTTCCCGGCCTGGG 0.632 NaN Mis DLBCL 0 0 0 0.010504 0 15 50 COL28A1 340267 broad.mit.edu 37 7 7421178 7421178 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:7421178C>T uc003src.1 - 28 2319 c.2202G>A c.(2200-2202)CAG>CAA p.Q734Q COL28A1_uc011jxe.1_Silent_p.Q417Q NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 734 Collagen-like 6. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CACTTACCTTCTGGCCTGGGA 0.458 NaN 0 0 0 0.01441 0 40 79 COL28A1 340267 broad.mit.edu 37 7 7516808 7516808 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:7516808G>A uc003src.1 - 14 1285 c.1168C>T c.(1168-1170)CCC>TCC p.P390S COL28A1_uc011jxe.1_Missense_Mutation_p.P73S|COL28A1_uc003srd.2_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 390 Collagen-like 3. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GGACCACGGGGACCCTGGTTa 0.308 NaN 0 0 0 0.006214 0 8 28 SNX13 23161 broad.mit.edu 37 7 17890577 17890577 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:17890577G>C uc003stw.1 - 10 1061 c.848C>G c.(847-849)TCT>TGT p.S283C SNX13_uc003stv.2_Missense_Mutation_p.S283C|SNX13_uc010kuc.2_Missense_Mutation_p.S80C Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 283 PXA. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) GTTGCAGTTAGAATCACGGAT 0.318 NaN 0 0 0 0.000602 0 3 12 BBS9 27241 broad.mit.edu 37 7 33407465 33407465 + Missense_Mutation SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:33407465A>C uc003tdn.1 + 17 2293 c.1780A>C c.(1780-1782)AAA>CAA p.K594Q BBS9_uc003tdo.1_Missense_Mutation_p.K559Q|BBS9_uc003tdp.1_Missense_Mutation_p.K589Q|BBS9_uc003tdq.1_Missense_Mutation_p.K554Q|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.K118Q|BBS9_uc003tds.1_Missense_Mutation_p.K17Q|BBS9_uc011kao.1_Missense_Mutation_p.K472Q NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 594 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) TCTTGCTTCCAAAACTTCTCG 0.363 NaN Bardet-Biedl_syndrome 0 0 0 0.013537 0 12 49 ABCA13 154664 broad.mit.edu 37 7 48318544 48318544 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:48318544G>T uc003toq.2 + 18 7778 c.7753G>T c.(7753-7755)GAA>TAA p.E2585* ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2585 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTTCACATTTGAAAAGATAAA 0.308 NaN 1 0 8.00594e-06 0.007413 8.25228e-06 17 65 FIGNL1 63979 broad.mit.edu 37 7 50513083 50513083 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:50513083G>C uc003tpc.2 - 4 2280 c.1903C>G c.(1903-1905)CAA>GAA p.Q635E FIGNL1_uc003tpb.2_Missense_Mutation_p.Q524E|FIGNL1_uc003tpd.2_Missense_Mutation_p.Q635E|FIGNL1_uc003tpe.2_Missense_Mutation_p.Q635E|FIGNL1_uc010kyy.2_Missense_Mutation_p.Q635E NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 635 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) GGTCGAACTTGATCCGGTGTT 0.418 NaN 0 0 0 0.00499 0 16 39 WBSCR17 64409 broad.mit.edu 37 7 71130439 71130439 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:71130439G>A uc003tvy.2 + 7 1124 c.1124G>A c.(1123-1125)CGG>CAG p.R375Q WBSCR17_uc003tvz.2_Missense_Mutation_p.R74Q NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 375 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCTTGCTCACGGGTGGCCCAC 0.517 NaN 0 0 0 0.00308 0 5 75 SPDYE5 442590 broad.mit.edu 37 7 75130895 75130895 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:75130895C>T uc011kfy.1 + 6 906 c.770C>T c.(769-771)CCG>CTG p.P257L NM_001099435 NP_001092905 A6NIY4 SPDE5_HUMAN speedy homolog E5 257 Arg-rich. 0 TCCATGAACCCGAGGGCCAGG 0.592 NaN 0 0 0 0.010729 0 6 291 DMTF1 9988 broad.mit.edu 37 7 86794344 86794344 + Silent SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:86794344C>A uc003uih.2 + 3 413 c.87C>A c.(85-87)CTC>CTA p.L29L DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_Intron|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.L29L|DMTF1_uc003uim.1_Silent_p.L29L|DMTF1_uc003uin.2_5'UTR NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 29 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) AAGGGAATCTCATTCTTCACT 0.418 NaN 1 0 5.35267e-07 0.007413 5.59265e-07 15 49 ABCB1 5243 broad.mit.edu 37 7 87150136 87150136 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:87150136C>A uc003uiz.1 - 23 3160 c.2742G>T c.(2740-2742)CAG>CAT p.Q914H ABCB1_uc011khc.1_Missense_Mutation_p.Q850H NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 914 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTTCAAACTTCTGCTCCTGAG 0.408 NaN 1 0 6.4771e-29 0.010771 7.11419e-29 36 64 ABCB1 5243 broad.mit.edu 37 7 87174162 87174162 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:87174162T>C uc003uiz.1 - 17 2459 c.2041A>G c.(2041-2043)AAG>GAG p.K681E ABCB1_uc011khc.1_Missense_Mutation_p.K617E NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 681 Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GTACTAAGCTTTCTGTCTTGG 0.433 NaN 0 0 0 0.001855 0 10 100 ABCB1 5243 broad.mit.edu 37 7 87180046 87180046 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:87180046C>G uc003uiz.1 - 11 1526 c.1108G>C c.(1108-1110)GAT>CAT p.D370H ABCB1_uc011khc.1_Missense_Mutation_p.D306H NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 370 Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTTACATTATCAATTATCTTG 0.373 NaN 0 0 0 0.007413 0 13 37 C7orf63 79846 broad.mit.edu 37 7 89912334 89912334 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:89912334G>C uc010lep.2 + 13 1752 c.1501G>C c.(1501-1503)GAT>CAT p.D501H C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.D176H|C7orf63_uc011khj.1_Missense_Mutation_p.D483H|C7orf63_uc011khk.1_Missense_Mutation_p.D63H NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 501 binding ovary(1) 1 TGTAAACAAAGATCTTTGTGA 0.383 NaN 0 0 0 0.012319 0 17 28 ZNF394 84124 broad.mit.edu 37 7 99097298 99097298 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:99097298C>T uc003uqs.2 - 1 580 c.419G>A c.(418-420)CGG>CAG p.R140Q ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.R140Q NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 140 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) CTGCAGAGCCCGCACCACGGC 0.632 NaN 0 0 0 0.01441 0 38 99 ZAN 7455 broad.mit.edu 37 7 100349878 100349878 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:100349878C>T uc003uwj.2 + 14 2315 c.2150C>T c.(2149-2151)CCC>CTC p.P717L ZAN_uc003uwk.2_Missense_Mutation_p.P717L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 717 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCCCC 0.507 NaN 0 0 0 0.004672 0 3 77 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:100350361T>C uc003uwj.2 + 14 2798 c.2633T>C c.(2632-2634)CTC>CCC p.L878P ZAN_uc003uwk.2_Missense_Mutation_p.L878P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 878 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502 NaN 0 0 0 0.00308 0 3 87 MUC17 140453 broad.mit.edu 37 7 100678824 100678824 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:100678824C>T uc003uxp.1 + 3 4180 c.4127C>T c.(4126-4128)TCA>TTA p.S1376L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1376 Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich. 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) GAAGCCTGTTCATCTCCTACA 0.493 NaN 0 0 0 0.01441 0 128 301 MUC17 140453 broad.mit.edu 37 7 100681278 100681278 + Missense_Mutation SNP A A C rs145957833 byFrequency TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:100681278A>C uc003uxp.1 + 3 6634 c.6581A>C c.(6580-6582)AAT>ACT p.N2194T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2194 Extracellular (Potential).|35.|59 X approximate tandem repeats.|Ser-rich. 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) CCTGTGACCAATTCTACTGAA 0.493 NaN 0 0 0 0.003163 0 6 597 RELN 5649 broad.mit.edu 37 7 103155835 103155835 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:103155835C>T uc003vca.2 - 50 8076 c.7916G>A c.(7915-7917)CGC>CAC p.R2639H RELN_uc010liz.2_Missense_Mutation_p.R2639H NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2639 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCCACCAGCGGAAGCGAGT 0.512 NaN 0 0 0 0.004007 0 13 42 SYPL1 6856 broad.mit.edu 37 7 105752610 105752610 + Silent SNP G G C rs147008337 byFrequency TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:105752610G>C uc003vdp.2 - 2 181 c.99C>G c.(97-99)CTC>CTG p.L33L SYPL1_uc003vdo.2_Silent_p.L15L NM_006754 NP_006745 Q16563 SYPL1_HUMAN synaptophysin-like 1 isoform a 33 Cytoplasmic (Potential).|MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity 0 TGATGAAGCCGAGTGGCTCCT 0.498 NaN 0 0 0 0.00245 0 12 21 SYPL1 6856 broad.mit.edu 37 7 105752622 105752622 + Silent SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:105752622G>C uc003vdp.2 - 2 169 c.87C>G c.(85-87)CTC>CTG p.L29L SYPL1_uc003vdo.2_Silent_p.L11L NM_006754 NP_006745 Q16563 SYPL1_HUMAN synaptophysin-like 1 isoform a 29 Cytoplasmic (Potential).|MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity 0 GTGGCTCCTTGAGCGGGTTGA 0.493 NaN 0 0 0 0.007413 0 14 22 SLC13A1 6561 broad.mit.edu 37 7 122769443 122769443 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:122769443G>A uc003vkm.2 - 9 1050 c.1025C>T c.(1024-1026)CCA>CTA p.P342L SLC13A1_uc010lks.2_Missense_Mutation_p.P218L NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 342 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) TTACCTTATTGGCCCAAGCTT 0.294 NaN 0 0 0 0.00333 0 21 27 TBXAS1 6916 broad.mit.edu 37 7 139661804 139661804 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:139661804C>T uc011kqv.1 + 10 1211 c.1047C>T c.(1045-1047)GAC>GAT p.D349D TBXAS1_uc003vvh.2_Silent_p.D303D|TBXAS1_uc010lne.2_Silent_p.D235D|TBXAS1_uc011kqu.1_Silent_p.D254D|TBXAS1_uc003vvi.2_Silent_p.D303D|TBXAS1_uc003vvj.2_Silent_p.D303D|TBXAS1_uc011kqw.1_Silent_p.D283D NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 302 Lumenal (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) TCGTCAGAGACGTTTTCTCCT 0.562 NaN 0 0 0 0.007291 0 23 29 JHDM1D 80853 broad.mit.edu 37 7 139799789 139799789 + Missense_Mutation SNP T T C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:139799789T>C uc003vvm.2 - 13 1677 c.1673A>G c.(1672-1674)AAC>AGC p.N558S JHDM1D_uc010lng.2_RNA NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 558 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) GAGATGTTTGTTGAATTTTCC 0.398 NaN 0 0 0 0.01441 0 44 83 TRPV5 56302 broad.mit.edu 37 7 142609893 142609893 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:142609893C>G uc003wby.1 - 13 1807 c.1543G>C c.(1543-1545)GAG>CAG p.E515Q NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 515 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) GTTGGGTCCTCTGTCTGGAAA 0.468 NaN 0 0 0 0.00874 0 35 71 ZNF282 8427 broad.mit.edu 37 7 148921496 148921496 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:148921496C>G uc003wfm.2 + 8 1878 c.1773C>G c.(1771-1773)AAC>AAG p.N591K ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 591 C2H2-type 3. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) ACCTGCAGAACCACCAGCGGC 0.632 NaN 0 0 0 0.001855 0 12 32 ZNF282 8427 broad.mit.edu 37 7 148921658 148921658 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:148921658C>G uc003wfm.2 + 8 2040 c.1935C>G c.(1933-1935)CTC>CTG p.L645L ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 645 C2H2-type 5. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) AGGAGTCGCTCAAGGACCACC 0.597 NaN 0 0 0 0.001168 0 6 7 SSPO 23145 broad.mit.edu 37 7 149489754 149489754 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:149489754C>G uc010lpk.2 + 39 5810 c.5810C>G c.(5809-5811)TCC>TGC p.S1937C NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1937 TSP type-1 3. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TTCCGGAGCTCCAACAACCCC 0.697 NaN 0 0 0 0.006122 0 14 26 REPIN1 29803 broad.mit.edu 37 7 150068792 150068792 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:150068792C>T uc010lpq.1 + 4 951 c.462C>T c.(460-462)TTC>TTT p.F154F REPIN1_uc003whd.2_Silent_p.F143F|REPIN1_uc010lpr.1_Silent_p.F211F|REPIN1_uc003whc.2_Silent_p.F154F|REPIN1_uc003whe.2_Silent_p.F154F NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 154 C2H2-type 4. DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) AGAGACGCTTCTGGCGACGAA 0.662 NaN 0 0 0 0.006214 0 6 6 MLL3 58508 broad.mit.edu 37 7 151851456 151851456 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:151851456C>G uc003wla.2 - 47 12254 c.12035G>C c.(12034-12036)GGG>GCG p.G4012A MLL3_uc003wkz.2_Missense_Mutation_p.G3130A|MLL3_uc003wkx.2_Missense_Mutation_p.G170A|MLL3_uc003wky.2_Missense_Mutation_p.G1576A NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4012 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CACTTCTACCCCAACCACACT 0.498 NaN N medulloblastoma 0 0 0 0.01441 0 37 121 FGF17 8822 broad.mit.edu 37 8 21903643 21903643 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:21903643C>G uc003xag.2 + 3 103 c.91C>G c.(91-93)CCT>GCT p.P31A FGF17_uc003xah.2_Intron|FGF17_uc003xai.2_Missense_Mutation_p.P54A NM_003867 NP_003858 O60258 FGF17_HUMAN fibroblast growth factor 17 precursor 31 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) TCACCCGTCTCCTAATTTTAA 0.557 NaN 0 0 0 0.005524 0 30 22 PNMA2 10687 broad.mit.edu 37 8 26365475 26365475 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:26365475G>A uc003xez.2 - 3 1567 c.797C>T c.(796-798)TCA>TTA p.S266L NM_007257 NP_009188 Q9UL42 PNMA2_HUMAN paraneoplastic antigen MA2 266 apoptosis nucleolus protein binding 0 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) cacataggctgagaccttctc 0 NaN 0 0 0 0.003163 0 13 18 NRG1 3084 broad.mit.edu 37 8 32621582 32621582 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:32621582C>A uc003xiv.2 + 12 2102 c.1585C>A c.(1585-1587)CAA>AAA p.Q529K NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.Q534K|NRG1_uc003xiw.2_Missense_Mutation_p.Q526K|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.Q271K|NRG1_uc010lvs.2_Missense_Mutation_p.Q271K|NRG1_uc010lvp.2_Missense_Mutation_p.Q483K|NRG1_uc010lvq.2_Missense_Mutation_p.Q466K|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.Q372K|NRG1_uc003xja.2_Missense_Mutation_p.Q340K NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 529 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TGAAACGACCCAAGAGTACGA 0.542 NaN 1 0 3.07112e-06 0.010729 3.17784e-06 11 21 IKBKB 3551 broad.mit.edu 37 8 42176072 42176072 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:42176072C>G uc003xow.1 + 13 1420 c.1243C>G c.(1243-1245)CAA>GAA p.Q415E IKBKB_uc010lxh.1_Missense_Mutation_p.Q310E|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.Q192E|IKBKB_uc003xox.1_Missense_Mutation_p.Q136E|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.Q413E|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.Q356E NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 415 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GTCTCCAGTTCAAGAGCCCAA 0.498 NaN 0 0 0 0.01441 0 47 92 CSPP1 79848 broad.mit.edu 37 8 68044264 68044264 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:68044264G>A uc003xxi.2 + 16 1897 c.1866G>A c.(1864-1866)CCG>CCA p.P622P CSPP1_uc003xxg.1_Silent_p.P614P|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.P587P|CSPP1_uc003xxk.2_Silent_p.P293P NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 622 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAGATAAACCGAAACCTTCCA 0.353 NaN 0 0 0 0.004289 0 28 69 TPD52 7163 broad.mit.edu 37 8 80992661 80992661 + Nonsense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:80992661C>A uc003ybr.1 - 1 350 c.28G>T c.(28-30)GAG>TAG p.E10* TPD52_uc010lzr.2_RNA|TPD52_uc010lzs.1_Intron|TPD52_uc003ybs.1_Intron|TPD52_uc003ybt.1_Intron NM_001025252 NP_001020423 P55327 TPD52_HUMAN tumor protein D52 isoform 1 10 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity ovary(1) 1 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TGGTAGTCCTCATATAAGTCC 0.463 NaN 1 0 1.55469e-16 0.00333 1.68007e-16 19 38 C8orf37 157657 broad.mit.edu 37 8 96281381 96281381 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:96281381C>G uc003yho.1 - 1 57 c.37G>C c.(37-39)GAG>CAG p.E13Q NM_177965 NP_808880 Q96NL8 CH037_HUMAN hypothetical protein LOC157657 13 0 Breast(36;3.41e-05) AACTTGGACTCGACTTCATCC 0.592 NaN OREG0018873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 82 247 MTERFD1 51001 broad.mit.edu 37 8 97269316 97269316 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:97269316G>C uc003yhs.1 - 3 439 c.361C>G c.(361-363)CCA>GCA p.P121A MTERFD1_uc003yhr.1_5'UTR|MTERFD1_uc010mbd.1_Missense_Mutation_p.P121A NM_015942 NP_057026 Q96E29 MTER1_HUMAN MTERF domain containing 1 precursor 121 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding ovary(1) 1 Breast(36;5.16e-05) GGCTGCATTGGAGACAATGGA 0.418 NaN 0 0 0 0.004289 0 27 134 MRPL13 28998 broad.mit.edu 37 8 121426333 121426333 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:121426333G>C uc003ypa.2 - 6 725 c.412C>G c.(412-414)CTT>GTT p.L138V MRPL13_uc010mdf.2_RNA NM_014078 NP_054797 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 138 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(1) 1 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) AAATTCTTAAGAATATCTTCT 0.294 NaN 0 0 0 0.000602 0 4 15 SCRIB 23513 broad.mit.edu 37 8 144885702 144885702 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:144885702G>A uc003yzp.1 - 24 3461 c.3454C>T c.(3454-3456)CGT>TGT p.R1152C SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.R1152C NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1152 PDZ 4.|Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AAACCCACACGCAGCCGACCG 0.721 NaN 0 0 0 0.007291 0 21 34 MFSD3 113655 broad.mit.edu 37 8 145736235 145736235 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:145736235C>G uc003zdi.1 + 4 1179 c.1014C>G c.(1012-1014)GTC>GTG p.V338V NM_138431 NP_612440 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 338 Leu-rich.|Helical; (Potential). transmembrane transport integral to membrane central_nervous_system(2) 2 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) TCACCACAGTCACCTTCACTG 0.642 NaN 0 0 0 0.004007 0 14 37 ZNF251 90987 broad.mit.edu 37 8 145979132 145979132 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr8:145979132C>T uc003zdv.3 - 4 469 c.213G>A c.(211-213)AAG>AAA p.K71K NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CCCAAAGTTCCTTCCCCTGCT 0.552 NaN 0 0 0 0.008291 0 7 13 FOXD4 2298 broad.mit.edu 37 9 117910 117910 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:117910G>A uc003zfz.2 - 1 508 c.210C>T c.(208-210)ATC>ATT p.I70I NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 70 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CGCCGCCCTCGATGTGCTCTC 0.716 NaN 0 0 0 0.014323 0 15 135 SMARCA2 6595 broad.mit.edu 37 9 2110327 2110327 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:2110327C>G uc003zhc.2 + 24 3465 c.3366C>G c.(3364-3366)TTC>TTG p.F1122L SMARCA2_uc003zhd.2_Missense_Mutation_p.F1122L|SMARCA2_uc010mha.2_Missense_Mutation_p.F1055L NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1122 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATTTCATTTTCTTGCTGAGCA 0.463 NaN 0 0 0 0.004878 0 30 41 FAM154A 158297 broad.mit.edu 37 9 18928110 18928110 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:18928110G>A uc003zni.1 - 4 1643 c.1365C>T c.(1363-1365)AGC>AGT p.S455S FAM154A_uc010mip.1_Silent_p.S263S NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 455 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) CAGAAAGATGGCTGCTCTGCT 0.433 NaN 0 0 0 0.01441 0 51 44 CNTNAP3 79937 broad.mit.edu 37 9 39178358 39178358 + Splice_Site SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:39178358C>G uc004abi.2 - 5 778 c.539_splice c.e5-1 p.K180_splice CNTNAP3_uc004abj.2_Splice_Site_p.K180_splice|CNTNAP3_uc011lqr.1_Splice_Site|CNTNAP3_uc004abk.1_Splice_Site_p.K180_splice|CNTNAP3_uc011lqs.1_Splice_Site_p.K180_splice|CNTNAP3_uc004abl.1_Splice_Site_p.K92_splice NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN cell recognition molecule CASPR3 precursor cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACCTCAGATTCTAGGAAAGAA 0.313 NaN 0 0 0 0.010771 0 32 34 GDA 9615 broad.mit.edu 37 9 74838100 74838100 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:74838100G>A uc004aiq.2 + 7 854 c.671G>A c.(670-672)GGT>GAT p.G224D GDA_uc011lse.1_Missense_Mutation_p.G150D|GDA_uc011lsf.1_Missense_Mutation_p.G150D|GDA_uc004air.2_Missense_Mutation_p.G224D|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Missense_Mutation_p.G150D NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 224 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) ACTTTGATGGGTGAACTGGGC 0.408 NaN 0 0 0 0.013537 0 8 73 PRUNE2 158471 broad.mit.edu 37 9 79324197 79324197 + Nonsense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:79324197G>C uc010mpk.2 - 8 3117 c.2993C>G c.(2992-2994)TCA>TGA p.S998* NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 998 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ACCATCTTTTGACTCAAAACC 0.453 NaN 0 0 0 0.00245 0 14 13 SLC28A3 64078 broad.mit.edu 37 9 86955491 86955491 + Nonsense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:86955491G>A uc010mpz.2 - 1 183 c.58C>T c.(58-60)CAG>TAG p.Q20* SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Nonsense_Mutation_p.Q20*|SLC28A3_uc010mqb.2_5'UTR NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 20 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 CTGCTCACCTGGAAGCCCACG 0.532 NaN 0 0 0 0.003954 0 20 31 FAM120A 23196 broad.mit.edu 37 9 96259828 96259828 + Nonsense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:96259828C>T uc004atw.2 + 4 905 c.880C>T c.(880-882)CAG>TAG p.Q294* FAM120A_uc004atv.2_Nonsense_Mutation_p.Q294*|FAM120A_uc004atx.2_Nonsense_Mutation_p.Q76*|FAM120A_uc004aty.2_Nonsense_Mutation_p.Q76* NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 294 cytoplasm|plasma membrane RNA binding 0 ACGCAACATTCAGGACACCTC 0.433 NaN 0 0 0 0.008361 0 29 17 NIPSNAP3A 25934 broad.mit.edu 37 9 107521388 107521388 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:107521388G>C uc004bch.1 + 5 708 c.603G>C c.(601-603)GAG>GAC p.E201D NIPSNAP3A_uc011lvt.1_Missense_Mutation_p.E201D|NIPSNAP3A_uc011lvu.1_Intron NM_015469 NP_056284 Q9UFN0 NPS3A_HUMAN nipsnap homolog 3A 201 cytosol 0 GGTGGAATGAGAGTGCAGATA 0.388 NaN 0 0 0 0.001168 0 5 9 TMEM38B 55151 broad.mit.edu 37 9 108457020 108457020 + Missense_Mutation SNP C C G rs11542697 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:108457020C>G uc004bcu.1 + 1 196 c.79C>G c.(79-81)CTA>GTA p.L27V TMEM38B_uc010mtn.1_Missense_Mutation_p.L27V NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 27 Lumenal (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 CGCGCACTATCTAGTGTCAGT 0.602 NaN 0 0 0 0.009718 0 32 71 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900730 112900730 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:112900730G>A uc004bei.2 + 9 3794 c.3602G>A c.(3601-3603)AGG>AAG p.R1201K PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.R969K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.R969K|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R779K|AKAP2_uc011lwi.1_Missense_Mutation_p.R827K|AKAP2_uc004bem.2_Missense_Mutation_p.R827K|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R787K|AKAP2_uc011lwj.1_Missense_Mutation_p.R738K|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.R738K NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 738 Potential. enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 GAGCTGAAGAGGCAGAGACAA 0.527 NaN 0 0 0 0.001855 0 11 45 FKBP15 23307 broad.mit.edu 37 9 115959352 115959352 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:115959352C>T uc004bgs.2 - 9 842 c.724G>A c.(724-726)GAG>AAG p.E242K FKBP15_uc010muu.1_Missense_Mutation_p.E306K|FKBP15_uc011lxd.1_Missense_Mutation_p.E174K|FKBP15_uc010mut.1_Missense_Mutation_p.E110K|FKBP15_uc004bgt.2_Missense_Mutation_p.E242K NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 242 PPIase FKBP-type. endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 ATTCCATCCTCCCAGCCCTTT 0.463 NaN 0 0 0 0.003271 0 27 89 COL27A1 85301 broad.mit.edu 37 9 117062947 117062947 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:117062947C>T uc011lxl.1 + 51 4681 c.4681C>T c.(4681-4683)CGG>TGG p.R1561W COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1561 Collagen-like 15.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CCAGGGCCCTCGGGGGCCACC 0.622 NaN 0 0 0 0.006214 0 7 21 SPTAN1 6709 broad.mit.edu 37 9 131340465 131340465 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:131340465G>T uc004bvl.3 + 9 1275 c.1162G>T c.(1162-1164)GAG>TAG p.E388* SPTAN1_uc011mbg.1_Nonsense_Mutation_p.E388*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.E400*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.E388*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.E388* NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 388 Spectrin 5. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CAATGCAGATGAGCTTGCCAG 0.488 NaN 1 0 5.61819e-17 0.005443 6.08353e-17 21 40 FNBP1 23048 broad.mit.edu 37 9 132658267 132658267 + Missense_Mutation SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:132658267C>T uc004byw.1 - 16 1915 c.1696G>A c.(1696-1698)GAA>AAA p.E566K FNBP1_uc011mbv.1_Missense_Mutation_p.E556K|FNBP1_uc011mbw.1_Missense_Mutation_p.E561K|FNBP1_uc004bza.2_Missense_Mutation_p.E500K|FNBP1_uc004byz.1_Missense_Mutation_p.E537K|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Missense_Mutation_p.E194K|FNBP1_uc004byx.1_Missense_Mutation_p.E482K|FNBP1_uc004byy.1_Missense_Mutation_p.E472K NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN formin binding protein 1 566 Required for self-association and induction of membrane tubulation.|Interaction with FASLG.|SH3.|Interaction with PDE6G (By similarity).|Interaction with DNM1 and DNM3.|Required for interaction with TNKS.|Interaction with DNM2 and WASL.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding 0 Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) ATCGTTCCTTCATTCTGACCT 0.448 NaN T MLL AML 0 0 0 0.010818 0 23 61 LAMC3 10319 broad.mit.edu 37 9 133948634 133948634 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:133948634G>C uc004caa.1 + 20 3518 c.3420G>C c.(3418-3420)GAG>GAC p.E1140D NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1140 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TTCTACAGGAGATTCCTCAGG 0.577 NaN 0 0 0 0.007413 0 15 33 SARDH 1757 broad.mit.edu 37 9 136555522 136555522 + Silent SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:136555522G>A uc004cep.3 - 16 2183 c.2049C>T c.(2047-2049)ATC>ATT p.I683I SARDH_uc004ceo.2_Silent_p.I683I|SARDH_uc011mdn.1_Silent_p.I683I|SARDH_uc011mdo.1_Silent_p.I515I|SARDH_uc004cen.2_Silent_p.I111I NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 683 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CCTGGATACTGATCATACCCA 0.652 NaN 0 0 0 0.00499 0 14 37 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:37027156C>G uc004ddl.1 + 1 687 c.673C>G c.(673-675)CAG>GAG p.Q225E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 225 ovary(3) 3 TCTCCGCCCACAGCCTCCCAA 0.647 NaN 0 0 0 0.001168 0 5 52 FAM47C 442444 broad.mit.edu 37 X 37027200 37027200 + Silent SNP A A C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:37027200A>C uc004ddl.1 + 1 731 c.717A>C c.(715-717)CCA>CCC p.P239P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 239 ovary(3) 3 TGGAGCCTCCAGAGACTGGAG 0.637 NaN 0 0 0 0.004672 0 3 49 PHF16 9767 broad.mit.edu 37 X 46913959 46913959 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:46913959G>C uc004dgx.2 + 9 1423 c.1372G>C c.(1372-1374)GTG>CTG p.V458L PHF16_uc004dgy.2_Missense_Mutation_p.V458L NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 458 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 AAATGGGCTGGTGCAGCCAAA 0.433 NaN 0 0 0 0.013537 0 11 6 PHF16 9767 broad.mit.edu 37 X 46913971 46913971 + Nonsense_Mutation SNP G G T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:46913971G>T uc004dgx.2 + 9 1435 c.1384G>T c.(1384-1386)GAG>TAG p.E462* PHF16_uc004dgy.2_Nonsense_Mutation_p.E462* NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 462 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 GCAGCCAAAAGAGGAAAGCAT 0.443 NaN 1 0 0.00010058 0.013537 0.000102687 10 6 PHF8 23133 broad.mit.edu 37 X 54048789 54048789 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:54048789G>A uc004dsu.2 - 4 377 c.304C>T c.(304-306)CGT>TGT p.R102C PHF8_uc004dst.2_Missense_Mutation_p.R66C|PHF8_uc004dsw.2_Missense_Mutation_p.R66C|PHF8_uc004dsy.2_Missense_Mutation_p.R66C NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 102 Linker. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 GAAGATCCACGGCGTTTTTTC 0.493 NaN 0 0 0 0.01441 0 43 17 ATRX 546 broad.mit.edu 37 X 76814231 76814231 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:76814231G>A uc004ecp.3 - 29 6645 c.6413C>T c.(6412-6414)TCT>TTT p.S2138F ATRX_uc004ecq.3_Missense_Mutation_p.S2100F|ATRX_uc004eco.3_Missense_Mutation_p.S1923F NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 2138 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TGGATTCCAAGAAGCGTCGAA 0.348 NaN Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 0 0 0 0.01441 0 47 22 ODZ1 10178 broad.mit.edu 37 X 123657408 123657408 + Missense_Mutation SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:123657408C>G uc004euj.2 - 17 2903 c.2839G>C c.(2839-2841)GAG>CAG p.E947Q ODZ1_uc011muj.1_Missense_Mutation_p.E946Q|ODZ1_uc010nqy.2_Missense_Mutation_p.E947Q NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 947 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 GTTCTCTTCTCAGGCAGGAAA 0.468 NaN 0 0 0 0.01441 0 39 5 TCHH 7062 broad.mit.edu 37 1 152083818 152083820 + In_Frame_Del DEL CGG CGG - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:152083818_152083820delCGG uc001ezp.2 - 2 1873_1875 c.1873_1875delCCG c.(1873-1875)CCGdel p.P625del TCHH_uc009wne.1_In_Frame_Del_p.P625del NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 625 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCCTCCGGCTCCTCGCGC 0.68 NaN NaN NaN NaN NaN NaN 8 184 --- --- DAP3 7818 broad.mit.edu 37 1 155698864 155698867 + Frame_Shift_Del DEL AGAG AGAG - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr1:155698864_155698867delAGAG uc001flq.2 + 8 804_807 c.635_638delAGAG c.(634-639)AAGAGAfs p.K212fs DAP3_uc001flr.2_Frame_Shift_Del_p.K212fs|DAP3_uc001fls.2_Frame_Shift_Del_p.K212fs|DAP3_uc010pgl.1_Frame_Shift_Del_p.K171fs|DAP3_uc001flt.2_Frame_Shift_Del_p.K178fs|DAP3_uc001flu.2_Intron|DAP3_uc010pgm.1_Frame_Shift_Del_p.K178fs NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 212_213 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GTCTGGAATAAGAGAGAAAGCACT 0.397 NaN NaN NaN NaN NaN NaN 9 61 --- --- LTB4R2 56413 broad.mit.edu 37 14 24780721 24780722 + Frame_Shift_Ins INS - - C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr14:24780721_24780722insC uc001woq.1 + 1 2561_2562 c.944_945insC c.(943-945)AACfs p.N315fs CIDEB_uc001woo.2_5'Flank|CIDEB_uc001wop.2_5'Flank|LTB4R2_uc010alo.2_Frame_Shift_Ins_p.N284fs|LTB4R2_uc001wor.2_Frame_Shift_Ins_p.N284fs|LTB4R_uc001wos.2_5'UTR|LTB4R_uc010alp.2_5'Flank NM_019839 NP_062813 Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 315 Helical; Name=7; (Potential). chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane 0 GBM - Glioblastoma multiforme(265;0.018) TCTAGCGTCAACCCGGTGCTCT 0.698 NaN NaN NaN NaN NaN NaN 21 54 --- --- NPTN 27020 broad.mit.edu 37 15 73866075 73866080 + In_Frame_Del DEL AGTGGC AGTGGC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr15:73866075_73866080delAGTGGC uc002avs.2 - 5 960_965 c.763_768delGCCACT c.(763-768)GCCACTdel p.AT255del NPTN_uc010bjc.2_In_Frame_Del_p.AT255del|NPTN_uc002avt.2_In_Frame_Del_p.AT139del|NPTN_uc002avr.2_In_Frame_Del_p.AT139del|NPTN_uc010ula.1_In_Frame_Del_p.AT50del NM_012428 NP_036560 Q9Y639 NPTN_HUMAN neuroplastin isoform b precursor 255_256 Ig-like 3.|Extracellular (Potential). elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding 0 TGCAATACATAGTGGCATCCTGCCCT 0.549 NaN NaN NaN NaN NaN NaN 26 96 --- --- ITGAL 3683 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30531249_30531251delGCT uc002dyi.3 + 30 3476_3478 c.3300_3302delGCT c.(3298-3303)GGGCTG>GGG p.L1106del ITGAL_uc002dyj.3_In_Frame_Del_p.L1022del|ITGAL_uc010vev.1_In_Frame_Del_p.L340del NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 1106 Helical; (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 NaN NaN NaN NaN NaN NaN 12 719 --- --- SRCAP 10847 broad.mit.edu 37 16 30736314 30736314 + Frame_Shift_Del DEL C C - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr16:30736314delC uc002dze.1 + 25 5954 c.5569delC c.(5569-5571)CCCfs p.P1857fs SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.P1652fs|SRCAP_uc010bzz.1_Frame_Shift_Del_p.P1427fs NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1857 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GCGCTCTGGTCCCCCCAGCCC 0.612 NaN NaN NaN NaN NaN NaN 7 972 --- --- A1BG 1 broad.mit.edu 37 19 58864380 58864381 + Frame_Shift_Del DEL CC CC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr19:58864380_58864381delCC uc002qsd.3 - 3 315_316 c.253_254delGG c.(253-255)GGTfs p.G85fs NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 85 Ig-like V-type 1. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) CTGGGTGTCACCCGTCAGCAGG 0.634 NaN NaN NaN NaN NaN NaN 16 67 --- --- IL17RC 84818 broad.mit.edu 37 3 9974358 9974360 + In_Frame_Del DEL TCC TCC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr3:9974358_9974360delTCC uc003bua.2 + 17 1903_1905 c.1667_1669delTCC c.(1666-1671)ATCCTC>ATC p.L559del CIDEC_uc003bto.2_Intron|IL17RC_uc003btz.2_In_Frame_Del_p.L488del|IL17RC_uc011atp.1_In_Frame_Del_p.L327del|IL17RC_uc003bud.2_In_Frame_Del_p.L29del|IL17RC_uc003bub.2_In_Frame_Del_p.L473del|IL17RC_uc010hct.2_In_Frame_Del_p.L488del|IL17RC_uc010hcu.2_In_Frame_Del_p.L471del|IL17RC_uc010hcv.2_In_Frame_Del_p.L456del|IL17RC_uc011atq.1_In_Frame_Del_p.L473del|IL17RC_uc003buc.2_In_Frame_Del_p.L29del|IL17RC_uc003bue.2_In_Frame_Del_p.L124del|CRELD1_uc003buf.2_5'Flank|CRELD1_uc003bug.2_5'Flank|CRELD1_uc003buh.2_5'Flank|CRELD1_uc003bui.2_5'Flank|CRELD1_uc003buj.2_5'Flank NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 559 Helical; (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 CTTTCCCTCATCCTCCTTCTCAA 0.591 NaN OREG0015383 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 54 189 --- --- SYNCRIP 10492 broad.mit.edu 37 6 86349960 86349963 + Frame_Shift_Del DEL TCCT TCCT - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:86349960_86349963delTCCT uc003pla.2 - 4 892_895 c.351_354delAGGA c.(349-354)AAAGGAfs p.K117fs SYNCRIP_uc003pku.2_Frame_Shift_Del_p.K117fs|SYNCRIP_uc003pkw.2_Frame_Shift_Del_p.K117fs|SYNCRIP_uc003pky.2_Frame_Shift_Del_p.K19fs|SYNCRIP_uc003pkv.2_Frame_Shift_Del_p.K117fs|SYNCRIP_uc003pkx.2_5'UTR|SYNCRIP_uc003pkz.2_Frame_Shift_Del_p.K117fs NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 117_118 CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) CCTCATCTGGTCCTTTACTAGAAT 0.348 NaN NaN NaN NaN NaN NaN 18 122 --- --- TMEM200A 114801 broad.mit.edu 37 6 130762134 130762134 + Frame_Shift_Del DEL G G - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:130762134delG uc003qca.2 + 3 1438 c.567delG c.(565-567)ATGfs p.M189fs TMEM200A_uc010kfh.2_Frame_Shift_Del_p.M189fs|TMEM200A_uc010kfi.2_Frame_Shift_Del_p.M189fs|TMEM200A_uc003qcb.2_Frame_Shift_Del_p.M189fs NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 189 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CTGGTTTGATGGGAGAAACAG 0.448 NaN NaN NaN NaN NaN NaN 9 60 --- --- PDE10A 10846 broad.mit.edu 37 6 165806238 165806240 + In_Frame_Del DEL TTC TTC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr6:165806238_165806240delTTC uc003qun.2 - 17 1762_1764 c.1521_1523delGAA c.(1519-1524)AAGAAC>AAC p.K507del PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_In_Frame_Del_p.K437del|PDE10A_uc003quo.2_In_Frame_Del_p.K517del NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 507 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CCGCCGATAGTTCTTCTTCACAG 0.409 NaN NaN NaN NaN NaN NaN 14 96 --- --- DLX6 1750 broad.mit.edu 37 7 96635545 96635547 + In_Frame_Del DEL CAC CAC - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:96635545_96635547delCAC uc003uom.2 + 2 172_174 c.172_174delCAC c.(172-174)CACdel p.H63del DLX6AS_uc003uok.2_5'Flank|DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron NM_005222 NP_005213 P56179 DLX6_HUMAN distal-less homeobox 6 Error:Variant_position_missing_in_P56179_after_alignment nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GGCCGGCTCGcaccaccaccacc 0.571 NaN NaN NaN NaN NaN NaN 3 6 --- --- SSPO 23145 broad.mit.edu 37 7 149515189 149515189 + Splice_Site DEL A A - rs112122477 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr7:149515189delA uc010lpk.2 + 81 11577 c.11577_splice c.e81+2 p.E3859_splice NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GACCTCGAGTAACTGCCCCAG 0.562 NaN NaN NaN NaN NaN NaN 4 7 --- --- KANK1 23189 broad.mit.edu 37 9 713382 713383 + Frame_Shift_Del DEL TA TA - rs144413163 TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:713382_713383delTA uc003zgl.1 + 7 3265_3266 c.2616_2617delTA c.(2614-2619)TCTATCfs p.S872fs KANK1_uc003zgm.2_Frame_Shift_Del_p.S872fs|KANK1_uc003zgn.1_Frame_Shift_Del_p.S872fs|KANK1_uc003zgo.1_Frame_Shift_Del_p.S872fs|KANK1_uc003zgp.1_Frame_Shift_Del_p.S872fs|KANK1_uc003zgq.2_Frame_Shift_Del_p.S714fs|KANK1_uc003zgr.1_Frame_Shift_Del_p.S714fs|KANK1_uc003zgs.1_Frame_Shift_Del_p.S714fs NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 872_873 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CCCTGTCGTCTATCAACTCTGT 0.515 NaN NaN NaN NaN NaN NaN 29 58 --- --- DDX58 23586 broad.mit.edu 37 9 32487490 32487493 + Frame_Shift_Del DEL CTTG CTTG - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chr9:32487490_32487493delCTTG uc003zra.2 - 9 1509_1512 c.1351_1354delCAAG c.(1351-1356)CAAGTTfs p.Q451fs DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Frame_Shift_Del_p.Q406fs|DDX58_uc011lnr.1_Frame_Shift_Del_p.Q248fs|DDX58_uc010mji.2_Frame_Shift_Del_p.Q380fs NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 451_452 detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TTATAAACAACTTGCTCCAGTTCC 0.422 NaN NaN NaN NaN NaN NaN 8 91 --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx ebacd09f-c204-4cd2-a087-07bc4f2c5b74 4ea5600d-3af7-4258-ad2c-79b6f9850377 g.chrX:140994844_140994846delCCT uc004fbt.2 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)CCTdel p.P553del MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 NaN HNSCC(15;0.026) NaN NaN NaN NaN NaN 7 344 --- ---