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 HES4 57801 broad.mit.edu 37 1 934921 934921 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:934921G>A uc001aci.2 - 3 476 c.277C>T c.(277-279)CGC>TGC p.R93C HES4_uc010nyc.1_Missense_Mutation_p.R119C NM_021170 NP_066993 Q9HCC6 HES4_HUMAN hairy and enhancer of split 4 isoform 2 93 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACCTGCACGCGACGCAGGCTC 0.736 NaN 0 0 0 0.004672 0 3 10 SPEN 23013 broad.mit.edu 37 1 16261448 16261448 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:16261448G>A uc001axk.1 + 11 8917 c.8713G>A c.(8713-8715)GAT>AAT p.D2905N SPEN_uc010obp.1_Missense_Mutation_p.D2864N NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2905 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGTGAAGGCCGATAGGCCATC 0.577 NaN 0 0 0 0.014323 0 18 19 KIAA0090 23065 broad.mit.edu 37 1 19557916 19557916 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:19557916C>G uc001bbo.2 - 16 1826 c.1783G>C c.(1783-1785)GAG>CAG p.E595Q KIAA0090_uc001bbp.2_Missense_Mutation_p.E594Q|KIAA0090_uc001bbq.2_Missense_Mutation_p.E594Q|KIAA0090_uc001bbr.2_Missense_Mutation_p.E573Q NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 595 Extracellular (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) ATTCCCGACTCCTAAAATGAG 0.507 NaN 0 0 0 0.001168 0 5 13 TMEM50A 23585 broad.mit.edu 37 1 25678151 25678151 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:25678151G>T uc001bke.2 + 4 391 c.241G>T c.(241-243)GAT>TAT p.D81Y TMEM50A_uc010oeq.1_Missense_Mutation_p.D81Y|TMEM50A_uc009vrr.2_RNA|TMEM50A_uc009vrs.2_RNA NM_014313 NP_055128 O95807 TM50A_HUMAN small membrane protein 1 81 endoplasmic reticulum|integral to membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204) AGTCCGAGGTGATAGTTACAG 0.358 NaN 1 0 1.20466e-24 0.01441 1.30241e-24 44 46 PTAFR 5724 broad.mit.edu 37 1 28476921 28476921 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:28476921G>T uc001bpl.2 - 2 739 c.612C>A c.(610-612)TTC>TTA p.F204L PTAFR_uc001bpm.3_Missense_Mutation_p.F204L|PTAFR_uc009vte.2_Missense_Mutation_p.F204L NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 204 Helical; Name=5; (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGTTGCAGAAGAGGATGA 0.567 NaN 1 0 2.32078e-09 0.003163 2.42404e-09 15 13 PTAFR 5724 broad.mit.edu 37 1 28477482 28477482 + Silent SNP G G C rs143590918 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:28477482G>C uc001bpl.2 - 2 178 c.51C>G c.(49-51)CTC>CTG p.L17L PTAFR_uc001bpm.3_Silent_p.L17L|PTAFR_uc009vte.2_Silent_p.L17L NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 17 Helical; Name=1; (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CAATCGGGAAGAGAGTGTATC 0.527 NaN 0 0 0 0.007835 0 30 29 ZMYM4 9202 broad.mit.edu 37 1 35851047 35851047 + Nonsense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:35851047C>G uc001byt.2 + 10 1654 c.1574C>G c.(1573-1575)TCA>TGA p.S525* ZMYM4_uc009vuu.2_Nonsense_Mutation_p.S493*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.S201*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.S264* NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 525 MYM-type 4. multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TAATAGAAATCAGCCAAAATT 0.318 NaN 0 0 0 0.009718 0 29 50 FAM176B 55194 broad.mit.edu 37 1 36788636 36788636 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:36788636C>T uc001cai.1 - 1 214 c.3G>A c.(1-3)ATG>ATA p.M1I C1orf113_uc010oic.1_Intron|FAM176B_uc001caj.1_Missense_Mutation_p.M1I NM_018166 NP_060636 Q9NVM1 F176B_HUMAN hypothetical protein LOC55194 1 integral to membrane pancreas(1) 1 GCGGGGCATCCATGCTGCTCT 0.687 NaN 0 0 0 0.013114 0 37 44 HIVEP3 59269 broad.mit.edu 37 1 42041338 42041338 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:42041338G>A uc001cgz.3 - 5 6297 c.5084C>T c.(5083-5085)TCC>TTC p.S1695F HIVEP3_uc001cha.3_Missense_Mutation_p.S1695F|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1695 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCCTTCCGGGGAAACCAGTGA 0.542 NaN 0 0 0 0.013114 0 39 37 NASP 4678 broad.mit.edu 37 1 46083736 46083736 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:46083736G>A uc001coi.1 + 15 2392 c.2290G>A c.(2290-2292)GAG>AAG p.E764K NASP_uc001coh.1_Missense_Mutation_p.E766K|NASP_uc001coj.1_Missense_Mutation_p.E425K|NASP_uc010olr.1_Missense_Mutation_p.E700K|NASP_uc001col.1_Missense_Mutation_p.E272K NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 764 Potential. blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) CTTCCAGGCTGAGAATCAGGC 0.517 NaN 0 0 0 0.00308 0 5 7 RNF11 26994 broad.mit.edu 37 1 51736896 51736896 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:51736896C>T uc001csi.3 + 3 851 c.367C>T c.(367-369)CTG>TTG p.L123L NM_014372 NP_055187 Q9Y3C5 RNF11_HUMAN ring finger protein 11 123 RING-type. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex DNA binding|protein binding|zinc ion binding 0 CATCTATCACCTGGACTGTAT 0.473 NaN 0 0 0 0.013726 0 27 168 ACOT11 26027 broad.mit.edu 37 1 55058277 55058277 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:55058277G>C uc001cxm.1 + 4 452 c.370G>C c.(370-372)GAG>CAG p.E124Q ACOT11_uc001cxj.1_Missense_Mutation_p.E2Q|ACOT11_uc001cxk.2_Missense_Mutation_p.E90Q|ACOT11_uc001cxl.1_Missense_Mutation_p.E124Q NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 124 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 CTCCAGCATGGAGGTGTGTGG 0.597 NaN 0 0 0 0.006999 0 35 49 FGGY 55277 broad.mit.edu 37 1 60139745 60139745 + Silent SNP C C G rs114601020 by1000genomes TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:60139745C>G uc001czi.3 + 14 1664 c.1452C>G c.(1450-1452)TCC>TCG p.S484S FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.S508S|FGGY_uc001czj.3_Silent_p.S483S|FGGY_uc001czk.3_Silent_p.S372S|FGGY_uc001czl.3_Silent_p.S396S|FGGY_uc001czm.3_Silent_p.S185S NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 484 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) AGGTGGAGTCCGTTCTTGTGG 0.612 NaN 0 0 0 0.010504 0 15 28 C1orf173 127254 broad.mit.edu 37 1 75037663 75037663 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:75037663G>T uc001dgg.2 - 14 3950 c.3731C>A c.(3730-3732)GCA>GAA p.A1244E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1244 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 ATCTTTGGCTGCTAGCTCCTC 0.617 NaN 1 0 1.01871e-10 0.008871 1.0663e-10 15 40 HFM1 164045 broad.mit.edu 37 1 91778938 91778938 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:91778938G>A uc001doa.3 - 30 3459 c.3359C>T c.(3358-3360)TCA>TTA p.S1120L HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S799L|HFM1_uc001dob.3_Missense_Mutation_p.S308L|HFM1_uc010osv.1_Missense_Mutation_p.S804L NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1120 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AGATATGTCTGAATGTTTAGA 0.328 NaN 0 0 0 0.001168 0 4 74 FNDC7 163479 broad.mit.edu 37 1 109271379 109271379 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:109271379C>T uc001dvx.2 + 8 1495 c.1495C>T c.(1495-1497)CAG>TAG p.Q499* FNDC7_uc010ova.1_Nonsense_Mutation_p.Q266* NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 500 Fibronectin type-III 6. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGGACTGTATCAGTGCAGCAG 0.542 NaN 0 0 0 0.005524 0 30 40 IGSF3 3321 broad.mit.edu 37 1 117150798 117150798 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:117150798G>A uc001egr.1 - 5 1693 c.988C>T c.(988-990)CCT>TCT p.P330S IGSF3_uc001egq.1_Missense_Mutation_p.P330S|IGSF3_uc001egs.1_Missense_Mutation_p.P3S NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 330 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ACAGCGTTAGGACCCATGGTG 0.562 NaN 0 0 0 0.00245 0 11 13 CD101 9398 broad.mit.edu 37 1 117556174 117556174 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:117556174G>A uc010oxb.1 + 4 1046 c.988G>A c.(988-990)GAT>AAT p.D330N CD101_uc009whd.2_Missense_Mutation_p.D330N|CD101_uc010oxc.1_Missense_Mutation_p.D330N|CD101_uc010oxd.1_Missense_Mutation_p.D268N NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 330 Ig-like C2-type 3.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TGCTCACATTGATGCTGGTGG 0.493 NaN 0 0 0 0.008291 0 8 73 ANKRD34A 284615 broad.mit.edu 37 1 145473612 145473612 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:145473612C>T uc001enq.1 + 4 1577 c.284C>T c.(283-285)TCG>TTG p.S95L NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 95 ANK 3. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGGTGGCCTCGCTGCTCCTT 0.721 NaN 0 0 0 0.009535 0 29 16 ZNF687 57592 broad.mit.edu 37 1 151261980 151261980 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:151261980C>G uc001exq.2 + 5 2696 c.2598C>G c.(2596-2598)CTC>CTG p.L866L ZNF687_uc009wmo.2_Silent_p.L866L|ZNF687_uc009wmp.2_Silent_p.L866L NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 866 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTCCTCTGCTCTTTGCCCAAA 0.547 NaN 0 0 0 0.004878 0 33 70 HRNR 388697 broad.mit.edu 37 1 152187697 152187697 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:152187697G>A uc001ezt.1 - 3 6484 c.6408C>T c.(6406-6408)CAC>CAT p.H2136H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2136 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCTAGAGCCGTGTTGTCCGT 0.557 NaN 0 0 0 0.01441 0 62 546 ARHGEF2 9181 broad.mit.edu 37 1 155921970 155921970 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:155921970G>A uc001fmt.2 - 16 2159 c.2041C>T c.(2041-2043)CGA>TGA p.R681* ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Nonsense_Mutation_p.R653*|ARHGEF2_uc001fms.2_Nonsense_Mutation_p.R680*|ARHGEF2_uc001fmu.2_Nonsense_Mutation_p.R725* NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 681 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding p.N681S(1) ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GCTGGCTCTCGGGGTGTCAAG 0.602 NaN 0 0 0 0.004482 0 8 63 KCNJ10 3766 broad.mit.edu 37 1 160012277 160012277 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:160012277C>G uc001fuw.1 - 2 196 c.46G>C c.(46-48)GAA>CAA p.E16Q NM_002241 NP_002232 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily 16 Cytoplasmic (By similarity). integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGCCGGCTTTCTGTCTGAGTG 0.532 NaN 0 0 0 0.01441 0 142 30 NCSTN 23385 broad.mit.edu 37 1 160322686 160322686 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:160322686G>A uc001fvx.2 + 9 1130 c.1006G>A c.(1006-1008)GAC>AAC p.D336N NCSTN_uc001fvy.2_Missense_Mutation_p.D316N|NCSTN_uc010pjf.1_Missense_Mutation_p.D198N|NCSTN_uc001fvz.2_Missense_Mutation_p.D116N|NCSTN_uc010pjg.1_Missense_Mutation_p.D78N NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 336 Extracellular (Potential). DY->AA: Increases production of amyloid beta (beta-APP40 and beta-APP42) in APP processing. amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAAACTTTTGACTACATTGG 0.502 NaN 0 0 0 0.00632 0 22 132 DDR2 4921 broad.mit.edu 37 1 162745932 162745932 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:162745932C>G uc001gcf.2 + 17 2520 c.2055C>G c.(2053-2055)ACC>ACG p.T685T DDR2_uc001gcg.2_Silent_p.T685T NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 685 Cytoplasmic (Potential).|Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCAGTTACACCAATCTGAAGT 0.413 NaN 0 0 0 0.01441 0 231 61 ZBTB41 360023 broad.mit.edu 37 1 197169253 197169253 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:197169253C>G uc001gtx.1 - 1 420 c.351G>C c.(349-351)TTG>TTC p.L117F ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 117 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GATTTTTGCTCAAACACGCAT 0.358 NaN 0 0 0 0.01441 0 60 26 PCNXL2 80003 broad.mit.edu 37 1 233136233 233136233 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:233136233C>T uc001hvl.2 - 30 5381 c.5146G>A c.(5146-5148)GAG>AAG p.E1716K PCNXL2_uc001hvk.1_Missense_Mutation_p.E368K|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1716 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TGGATGGCCTCGTAGAGGACT 0.612 NaN 0 0 0 0.00308 0 7 7 RYR2 6262 broad.mit.edu 37 1 237806719 237806719 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:237806719C>T uc001hyl.1 + 48 7434 c.7314C>T c.(7312-7314)ATC>ATT p.I2438I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2438 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTATCAGCATCGCTTTTCAGA 0.438 NaN 0 0 0 0.011902 0 42 34 RYR2 6262 broad.mit.edu 37 1 237947553 237947553 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:237947553G>A uc001hyl.1 + 90 12661 c.12541G>A c.(12541-12543)GGA>AGA p.G4181R RYR2_uc010pya.1_Missense_Mutation_p.G596R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4181 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAACGAAGGCGGAGAGAAAGA 0.502 NaN 0 0 0 0.00308 0 6 76 IDI2 91734 broad.mit.edu 37 10 1070566 1070566 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:1070566G>A uc001ifv.1 - 2 163 c.98C>T c.(97-99)GCC>GTC p.A33V C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron NM_033261 NP_150286 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 33 carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) CTTGGTGTCGGCACCAATAAC 0.478 NaN 0 0 0 0.004672 0 3 43 C10orf71 118461 broad.mit.edu 37 10 50532111 50532111 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:50532111G>A uc010qgp.1 + 3 1860 c.1521G>A c.(1519-1521)CGG>CGA p.R507R NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 507 0 AGGACGTGCGGAAGCGTGTTA 0.488 NaN 0 0 0 0.010729 0 7 17 TFAM 7019 broad.mit.edu 37 10 60148581 60148581 + Splice_Site SNP T T G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:60148581T>G uc001jkf.2 + 4 573 c.441_splice c.e4+2 p.K147_splice TFAM_uc001jkg.2_Splice_Site|TFAM_uc001jkh.2_Splice_Site_p.K147_splice NM_003201 NP_003192 Q00059 TFAM_HUMAN transcription factor A, mitochondrial precursor DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity 0 AAAAAAAAAGTGAGTATCATT 0.269 NaN 0 0 0 0.010729 0 8 19 JMJD1C 221037 broad.mit.edu 37 10 64968350 64968350 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:64968350G>A uc001jmn.2 - 10 3379 c.3079C>T c.(3079-3081)CAA>TAA p.Q1027* JMJD1C_uc001jml.2_Nonsense_Mutation_p.Q808*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.Q739*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.Q845*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.Q845*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q64* NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1027 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) ATACTTTCTTGAAGAATTCGA 0.418 NaN 0 0 0 0.009535 0 30 72 JMJD1C 221037 broad.mit.edu 37 10 64968353 64968353 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:64968353G>A uc001jmn.2 - 10 3376 c.3076C>T c.(3076-3078)CTT>TTT p.L1026F JMJD1C_uc001jml.2_Missense_Mutation_p.L807F|JMJD1C_uc001jmm.2_Missense_Mutation_p.L738F|JMJD1C_uc010qiq.1_Missense_Mutation_p.L844F|JMJD1C_uc009xpi.2_Missense_Mutation_p.L844F|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.L63F NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1026 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CTTTCTTGAAGAATTCGACGG 0.423 NaN 0 0 0 0.012213 0 31 69 PBLD 64081 broad.mit.edu 37 10 70044041 70044041 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:70044041G>A uc001jns.1 - 10 963 c.760C>T c.(760-762)CAG>TAG p.Q254* PBLD_uc001jnr.1_Nonsense_Mutation_p.Q221*|PBLD_uc001jnt.1_Nonsense_Mutation_p.Q254* NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 254 biosynthetic process isomerase activity skin(2)|ovary(1) 3 TGGGAACACTGAAAAGCTAAA 0.423 NaN 0 0 0 0.006122 0 18 31 ZMIZ1 57178 broad.mit.edu 37 10 81072474 81072474 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:81072474G>A uc001kaf.2 + 25 3744 c.3172G>A c.(3172-3174)GAT>AAT p.D1058N ZMIZ1_uc001kag.2_Missense_Mutation_p.D934N|ZMIZ1_uc010qlq.1_Missense_Mutation_p.D124N NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 1058 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CAATAGTAACGATGACCTCCT 0.537 NaN 0 0 0 0.01441 0 54 104 NOC3L 64318 broad.mit.edu 37 10 96116974 96116974 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:96116974G>C uc001kjq.1 - 4 553 c.465C>G c.(463-465)ATC>ATG p.I155M NOC3L_uc009xuk.1_Translation_Start_Site NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 155 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) TTTTATCTTTGATAGGAAGTA 0.368 NaN 0 0 0 0.01441 0 41 33 SLK 9748 broad.mit.edu 37 10 105763061 105763061 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:105763061C>G uc001kxo.1 + 9 2159 c.2125C>G c.(2125-2127)CTA>GTA p.L709V SLK_uc001kxp.1_Missense_Mutation_p.L709V NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 709 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TCAGCCTGTTCTAATACCCAG 0.353 NaN 0 0 0 0.009718 0 30 20 ZDHHC6 64429 broad.mit.edu 37 10 114192016 114192016 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:114192016C>G uc001kzv.2 - 10 1544 c.1120G>C c.(1120-1122)GAT>CAT p.D374H ZDHHC6_uc001kzw.2_Missense_Mutation_p.D370H NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 374 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) AAGGAATCATCAAGAATTTTG 0.274 NaN 0 0 0 0.001168 0 5 11 PAOX 196743 broad.mit.edu 37 10 135204914 135204914 + Silent SNP C C T rs140094339 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:135204914C>T uc001lmv.2 + 7 1571 c.1491C>T c.(1489-1491)CTC>CTT p.L497L PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Nonsense_Mutation_p.Q445*|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 635 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) ACCGCCTCCTCAGTCTGTGGG 0.662 NaN 0 0 0 0.003954 0 24 35 TRPM5 29850 broad.mit.edu 37 11 2436597 2436597 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:2436597C>T uc001lwm.3 - 9 1242 c.1233G>A c.(1231-1233)ACG>ACA p.T411T TRPM5_uc010qxl.1_Silent_p.T411T|TRPM5_uc009ydn.2_Silent_p.T413T NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 411 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GCCGCCCATACGTCAGGAAGT 0.652 NaN 0 0 0 0.000602 0 5 9 CCKBR 887 broad.mit.edu 37 11 6281307 6281307 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:6281307G>A uc001mcp.2 + 1 342 c.149G>A c.(148-150)CGA>CAA p.R50Q CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Missense_Mutation_p.R50Q|CCKBR_uc001mcs.2_Missense_Mutation_p.R50Q NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 50 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GCCGGGACACGAGGTGGGTGC 0.647 NaN 0 0 0 0.008361 0 21 29 KCNC1 3746 broad.mit.edu 37 11 17757753 17757753 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:17757753G>A uc001mnk.3 + 1 259 c.204G>A c.(202-204)CTG>CTA p.L68L KCNC1_uc009yhc.1_Silent_p.L68L NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 68 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 CGCACATCCTGAACTACTACC 0.672 NaN 0 0 0 0.004656 0 24 33 SLC17A6 57084 broad.mit.edu 37 11 22396376 22396376 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:22396376C>G uc001mqk.2 + 9 1530 c.1117C>G c.(1117-1119)CTA>GTA p.L373V NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 373 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 TGCAGATTTTCTAAGAAGCAA 0.388 NaN 0 0 0 0.01441 0 84 103 BBOX1 8424 broad.mit.edu 37 11 27077157 27077157 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:27077157G>A uc001mre.1 + 3 548 c.180G>A c.(178-180)GTG>GTA p.V60V BBOX1_uc009yih.1_Silent_p.V60V|BBOX1_uc001mrg.1_Silent_p.V60V NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 60 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) CTCTTGATGTGAACATTGGAA 0.408 NaN 0 0 0 0.010729 0 9 12 FNBP4 23360 broad.mit.edu 37 11 47767859 47767859 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:47767859C>G uc009ylv.2 - 7 1147 c.994G>C c.(994-996)GAG>CAG p.E332Q FNBP4_uc001ngj.2_Missense_Mutation_p.E239Q|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 332 ovary(1) 1 TTTATTCCCTCAGGCAATAAA 0.398 NaN 0 0 0 0.001855 0 13 14 OR4C15 81309 broad.mit.edu 37 11 55322235 55322235 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:55322235G>A uc010rig.1 + 1 453 c.453G>A c.(451-453)ATG>ATA p.M151I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAGGCTGCATGATGCAGCTCT 0.483 NaN HNSCC(20;0.049) 0 0 0 0.009718 0 42 66 OR5L2 26338 broad.mit.edu 37 11 55594854 55594854 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:55594854C>T uc001nhy.1 + 1 160 c.160C>T c.(160-162)CGG>TGG p.R54W NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GGTCAGCTCTCGGCTCCACAC 0.473 NaN HNSCC(27;0.073) 0 0 0 0.01441 0 144 59 SLC15A3 51296 broad.mit.edu 37 11 60718900 60718900 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:60718900C>T uc001nqn.2 - 1 358 c.124G>A c.(124-126)GAG>AAG p.E42K SLC15A3_uc001nqo.2_Missense_Mutation_p.E42K NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 42 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 TCCAGCATCTCCACCAGCAGC 0.368 NaN 0 0 0 0.009096 0 3 7 AHNAK 79026 broad.mit.edu 37 11 62295516 62295516 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:62295516G>T uc001ntl.2 - 5 6673 c.6373C>A c.(6373-6375)CAC>AAC p.H2125N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2125 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCTTTCAAGTGTAAGTCCACA 0.522 NaN 1 0 0.00198382 0.001984 0.00202489 5 240 AHNAK 79026 broad.mit.edu 37 11 62295522 62295522 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:62295522C>T uc001ntl.2 - 5 6667 c.6367G>A c.(6367-6369)GAC>AAC p.D2123N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2123 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AAGTGTAAGTCCACATCAGGC 0.522 NaN 0 0 0 0.00308 0 6 237 C11orf83 790955 broad.mit.edu 37 11 62439585 62439585 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:62439585G>A uc001nui.3 + 2 373 c.281G>A c.(280-282)TGA>TAA p.*94* C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank NM_001085372 NP_001078841 Q6UW78 CK083_HUMAN hypothetical protein LOC790955 precursor 94 extracellular region 0 AGGTCACCGTGAGACCGGACT 0.687 NaN 0 0 0 0.004672 0 2 1 BBS1 582 broad.mit.edu 37 11 66299177 66299177 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:66299177G>C uc001oij.1 + 16 1671 c.1659G>C c.(1657-1659)GAG>GAC p.E553D BBS1_uc001oii.1_Missense_Mutation_p.E590D|BBS1_uc010rpg.1_Missense_Mutation_p.E456D|BBS1_uc001oik.1_Missense_Mutation_p.E477D|BBS1_uc001oil.1_Missense_Mutation_p.E424D|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Missense_Mutation_p.E221D NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 553 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding ovary(1) 1 CCTTTGTGGAGAGTCTCAGTA 0.552 NaN Bardet-Biedl_syndrome 0 0 0 0.01441 0 61 99 PRKRIR 5612 broad.mit.edu 37 11 76062117 76062117 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:76062117C>G uc001oxh.1 - 5 2077 c.2077G>C c.(2077-2079)GAG>CAG p.E693Q PRKRIR_uc010rrz.1_Missense_Mutation_p.E518Q NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 693 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 CGCTCATTCTCAACCTTCATC 0.418 NaN 0 0 0 0.00874 0 34 20 PRKRIR 5612 broad.mit.edu 37 11 76062585 76062585 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:76062585C>G uc001oxh.1 - 5 1609 c.1609G>C c.(1609-1611)GAG>CAG p.E537Q PRKRIR_uc010rrz.1_Missense_Mutation_p.E362Q NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 537 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 GTGGCTTCCTCAAACCAAAAT 0.428 NaN 0 0 0 0.006214 0 7 13 ODZ4 26011 broad.mit.edu 37 11 78516497 78516497 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:78516497G>A uc001ozl.3 - 15 2482 c.2019C>T c.(2017-2019)TGC>TGT p.C673C NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 673 EGF-like 4.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CGCCTCTCACGCAGACACCCC 0.582 NaN 0 0 0 0.001168 0 4 12 GRM5 2915 broad.mit.edu 37 11 88780766 88780766 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:88780766C>T uc001pcq.2 - 1 475 c.275G>A c.(274-276)GGC>GAC p.G92D GRM5_uc009yvm.2_Missense_Mutation_p.G92D|GRM5_uc009yvn.1_Missense_Mutation_p.G92D NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 92 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.G92R(1) central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TATCTCACAGCCCAGTGTGAT 0.522 NaN 0 0 0 0.003163 0 10 16 AMOTL1 154810 broad.mit.edu 37 11 94533413 94533413 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:94533413C>T uc001pfb.2 + 3 1227 c.1057C>T c.(1057-1059)CAG>TAG p.Q353* AMOTL1_uc001pfc.2_Nonsense_Mutation_p.Q303* NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 353 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CCCTGCTCCTCAGCCTGTGAG 0.567 NaN 0 0 0 0.01441 0 54 99 BIRC3 330 broad.mit.edu 37 11 102195686 102195686 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:102195686G>C uc001pgx.2 + 3 668 c.446G>C c.(445-447)AGA>ACA p.R149T NM_182962 NP_892007 Q13489 BIRC3_HUMAN baculoviral IAP repeat-containing protein 3 149 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|skin(1) 4 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) GTAAACTCCAGAGCAAATCAA 0.393 NaN T MALT1 MALT 0 0 0 0.01441 0 41 73 DYNC2H1 79659 broad.mit.edu 37 11 102980483 102980483 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:102980483C>G uc001pho.2 + 1 324 c.180C>G c.(178-180)ATC>ATG p.I60M DYNC2H1_uc001phn.1_Missense_Mutation_p.I60M|DYNC2H1_uc009yxe.1_Missense_Mutation_p.I60M NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 60 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ACGCAGGAATCTCCTTTTCCA 0.557 NaN 0 0 0 0.012213 0 27 21 EXPH5 23086 broad.mit.edu 37 11 108383904 108383904 + Missense_Mutation SNP T T A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:108383904T>A uc001pkk.2 - 6 2441 c.2330A>T c.(2329-2331)GAT>GTT p.D777V EXPH5_uc010rvy.1_Missense_Mutation_p.D589V|EXPH5_uc010rvz.1_Missense_Mutation_p.D621V|EXPH5_uc010rwa.1_Missense_Mutation_p.D701V NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 777 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTGGAGGTATCTTTCCTGGA 0.388 NaN 0 0 0 0.01441 0 34 52 C11orf57 55216 broad.mit.edu 37 11 111946331 111946331 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:111946331G>T uc001pmr.3 + 2 714 c.33G>T c.(31-33)CTG>CTT p.L11L PIH1D2_uc009yyl.2_5'Flank|PIH1D2_uc001pmq.3_5'Flank|PIH1D2_uc001pmp.3_5'Flank|PIH1D2_uc010rws.1_5'Flank|C11orf57_uc001pmu.2_Silent_p.L11L|C11orf57_uc001pmw.3_Silent_p.L11L|C11orf57_uc001pmt.3_Silent_p.L11L|C11orf57_uc001pmv.3_Silent_p.L11L|C11orf57_uc001pms.3_5'UTR NM_001082970 NP_001076439 Q6ZUT1 CK057_HUMAN hypothetical protein LOC55216 isoform b 11 breast(2)|ovary(1) 3 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) AGGTCCTCCTGAGGAATGTCA 0.413 NaN 1 0 6.07407e-21 0.007291 6.52401e-21 22 25 IFT46 56912 broad.mit.edu 37 11 118416128 118416128 + Nonsense_Mutation SNP G G C rs45508996 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:118416128G>C uc001ptp.1 - 11 1193 c.815C>G c.(814-816)TCA>TGA p.S272* TMEM25_uc001ptl.2_Intron|TMEM25_uc001ptm.2_Intron|TMEM25_uc001ptn.2_Intron|IFT46_uc001pto.1_Nonsense_Mutation_p.S323*|IFT46_uc009zaf.1_Intron NM_020153 NP_064538 Q9NQC8 IFT46_HUMAN IFT46 272 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding 0 GCTCACCTGTGAGTTCTTGAA 0.458 NaN 0 0 0 0.01441 0 56 47 HINFP 25988 broad.mit.edu 37 11 119003647 119003647 + Nonsense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:119003647G>T uc001pvp.2 + 9 1138 c.949G>T c.(949-951)GAG>TAG p.E317* HINFP_uc001pvq.2_Nonsense_Mutation_p.E317*|HINFP_uc001pvr.2_Nonsense_Mutation_p.E70* NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 317 C2H2-type 8. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GTGTGATTTTGAGAACTGCAC 0.517 NaN 1 0 1.00905e-13 0.008871 1.06751e-13 19 42 HSPA8 3312 broad.mit.edu 37 11 122931883 122931883 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:122931883C>T uc001pyo.2 - 2 228 c.150G>A c.(148-150)TTG>TTA p.L50L HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Silent_p.L50L|HSPA8_uc010rzu.1_Silent_p.L50L|HSPA8_uc009zbd.1_Silent_p.L50L|HSPA8_uc010rzv.1_Silent_p.L50L NM_006597 NP_006588 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 isoform 1 50 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding central_nervous_system(7)|lung(1) 8 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CATCACCGATCAACCGTTCAG 0.448 NaN 0 0 0 0.008871 0 15 33 OR10G8 219869 broad.mit.edu 37 11 123900527 123900527 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:123900527C>T uc001pzp.1 + 1 198 c.198C>T c.(196-198)TTC>TTT p.F66F NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACCTGTCGTTCATTGACATGT 0.542 NaN 0 0 0 0.01441 0 48 101 KIRREL3 84623 broad.mit.edu 37 11 126294664 126294664 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:126294664G>T uc001qea.2 - 17 2509 c.2148C>A c.(2146-2148)CTC>CTA p.L716L KIRREL3_uc001qeb.2_Silent_p.L704L|ST3GAL4_uc001qdx.1_Intron NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 716 Cytoplasmic (Potential).|Ser-rich. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TGCTGTCGCTGAGGGAGCCTC 0.632 NaN 1 0 2.27111e-07 0.013537 2.35717e-07 11 27 ST14 6768 broad.mit.edu 37 11 130058506 130058506 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:130058506C>T uc001qfw.2 + 3 516 c.323C>T c.(322-324)TCC>TTC p.S108F ST14_uc010sca.1_5'Flank NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 108 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TACGAGAACTCCAACTCCACT 0.562 NaN 0 0 0 0.008361 0 23 50 ST14 6768 broad.mit.edu 37 11 130066275 130066275 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:130066275C>T uc001qfw.2 + 10 1348 c.1155C>T c.(1153-1155)TTC>TTT p.F385F ST14_uc010sca.1_Silent_p.F195F NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 385 CUB 2.|Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TCAAATTCTTCTACCTGCTGG 0.632 NaN 0 0 0 0.006214 0 6 7 NTM 50863 broad.mit.edu 37 11 132184470 132184470 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:132184470G>A uc001qgp.2 + 6 1471 c.807G>A c.(805-807)GTG>GTA p.V269V NTM_uc001qgm.2_Silent_p.V269V|NTM_uc010sch.1_Silent_p.V260V|NTM_uc010sci.1_Silent_p.V269V|NTM_uc010scj.1_Silent_p.V228V|NTM_uc001qgo.2_Silent_p.V269V|NTM_uc001qgq.2_Silent_p.V269V|NTM_uc001qgr.2_Silent_p.V51V NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 269 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 AGAAAGGGGTGAAAGTGGAAA 0.433 NaN 0 0 0 0.004672 0 3 22 C1S 716 broad.mit.edu 37 12 7177945 7177945 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:7177945G>A uc001qsj.2 + 15 2776 c.2057G>A c.(2056-2058)CGT>CAT p.R686H C1S_uc001qsk.2_Missense_Mutation_p.R686H|C1S_uc001qsl.2_Missense_Mutation_p.R686H|C1S_uc009zfr.2_Missense_Mutation_p.R519H|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 686 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) AGCACCCCCCGTGAGGACTAA 0.483 NaN 0 0 0 0.01441 0 45 71 C12orf60 144608 broad.mit.edu 37 12 14975926 14975926 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:14975926C>T uc001rcj.3 + 2 261 c.57C>T c.(55-57)TTC>TTT p.F19F NM_175874 NP_787070 Q5U649 CL060_HUMAN hypothetical protein LOC144608 19 ovary(1)|central_nervous_system(1) 2 CCAAAATGTTCTTCTTTCATG 0.368 NaN 0 0 0 0.00632 0 27 48 PLEKHA5 54477 broad.mit.edu 37 12 19427759 19427759 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:19427759C>G uc001reb.2 + 10 1223 c.1137C>G c.(1135-1137)GTC>GTG p.V379V PLEKHA5_uc010sie.1_Silent_p.V385V|PLEKHA5_uc001rea.2_Silent_p.V379V|PLEKHA5_uc009zin.2_Silent_p.V137V|PLEKHA5_uc010sif.1_Silent_p.V271V|PLEKHA5_uc010sig.1_Silent_p.V271V|PLEKHA5_uc010sih.1_Silent_p.V271V|PLEKHA5_uc001rec.1_Silent_p.V67V NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 379 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ACAAAATAGTCAATGTTAGCC 0.468 NaN 0 0 0 0.009535 0 29 60 CAPRIN2 65981 broad.mit.edu 37 12 30906540 30906540 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:30906540G>A uc001rji.1 - 1 909 c.158C>T c.(157-159)TCA>TTA p.S53L CAPRIN2_uc001rjg.1_5'Flank|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S53L|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.S53L|CAPRIN2_uc001rjl.3_Missense_Mutation_p.S53L NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 53 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TGAAACAGATGAGGCTGAAGG 0.463 NaN OREG0021723 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 50 DENND5B 160518 broad.mit.edu 37 12 31540565 31540565 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:31540565C>T uc001rki.1 - 21 3983 c.3797G>A c.(3796-3798)GGA>GAA p.G1266E DENND5B_uc001rkh.1_Missense_Mutation_p.G1301E|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1266 RUN 2. integral to membrane ovary(1)|central_nervous_system(1) 2 GATGAGTGATCCTTCTAGGAC 0.498 NaN 0 0 0 0.00632 0 20 33 DENND5B 160518 broad.mit.edu 37 12 31540607 31540607 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:31540607C>T uc001rki.1 - 21 3941 c.3755G>A c.(3754-3756)CGA>CAA p.R1252Q DENND5B_uc001rkh.1_Missense_Mutation_p.R1287Q|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1252 RUN 2. integral to membrane ovary(1)|central_nervous_system(1) 2 CTGCAGAATTCGGATAAGGGA 0.488 NaN 0 0 0 0.006122 0 16 29 DENND5B 160518 broad.mit.edu 37 12 31540637 31540637 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:31540637C>G uc001rki.1 - 21 3911 c.3725G>C c.(3724-3726)CGA>CCA p.R1242P DENND5B_uc001rkh.1_Missense_Mutation_p.R1277P|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1242 RUN 2. integral to membrane ovary(1)|central_nervous_system(1) 2 CATGCGGTCTCGCAGGAGAGC 0.498 NaN 0 0 0 0.00632 0 22 28 DIP2B 57609 broad.mit.edu 37 12 51072628 51072628 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:51072628G>A uc001rwv.2 + 8 1239 c.1083G>A c.(1081-1083)ATG>ATA p.M361I DIP2B_uc001rwu.2_Missense_Mutation_p.M361I|DIP2B_uc009zls.1_Missense_Mutation_p.M243I NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 361 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 CACTGGACATGACAGGGAAAC 0.468 NaN 0 0 0 0.005524 0 30 56 KRT6C 286887 broad.mit.edu 37 12 52865237 52865237 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:52865237C>T uc001sal.3 - 4 928 c.880G>A c.(880-882)GAG>AAG p.E294K NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C 294 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) AAGTTGATCTCATCTGTGAGA 0.488 NaN 0 0 0 0.01441 0 42 74 KRT79 338785 broad.mit.edu 37 12 53227586 53227586 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:53227586G>A uc001sbb.2 - 1 492 c.459C>T c.(457-459)TTC>TTT p.F153F NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 153 Rod.|Coil 1A. keratin filament structural molecule activity ovary(2)|skin(2) 4 TGAAGGAGGCGAACTTGTTGT 0.607 NaN 0 0 0 0.01441 0 81 122 KRT79 338785 broad.mit.edu 37 12 53227664 53227664 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:53227664G>C uc001sbb.2 - 1 414 c.381C>G c.(379-381)CTC>CTG p.L127L NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 127 Head. keratin filament structural molecule activity ovary(2)|skin(2) 4 TCTCCACATGGAGGGGGGTCA 0.602 NaN 0 0 0 0.01441 0 46 70 GDF11 10220 broad.mit.edu 37 12 56137466 56137466 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:56137466C>G uc001shq.2 + 1 403 c.366C>G c.(364-366)GAC>GAG p.D122E GDF11_uc010spv.1_Missense_Mutation_p.D122E NM_005811 NP_005802 O95390 GDF11_HUMAN growth differentiation factor 11 precursor 122 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity kidney(1) 1 TCCAGGGCGACGCGCTGCAGC 0.667 NaN 0 0 0 0.00632 0 24 19 DGKA 1606 broad.mit.edu 37 12 56345848 56345848 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:56345848C>T uc001sij.2 + 19 1881 c.1617C>T c.(1615-1617)ATC>ATT p.I539I DGKA_uc001sii.1_Silent_p.I397I|DGKA_uc009zod.1_Silent_p.I458I|DGKA_uc001sik.2_Silent_p.I539I|DGKA_uc001sil.2_Silent_p.I539I|DGKA_uc001sim.2_Silent_p.I539I|DGKA_uc001sin.2_Silent_p.I539I|DGKA_uc009zof.2_Silent_p.I185I|DGKA_uc001sio.2_Silent_p.I281I NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 539 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) GATTCCACATCATGCGAGAGA 0.522 NaN 0 0 0 0.01441 0 73 53 PAN2 9924 broad.mit.edu 37 12 56717846 56717846 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:56717846G>C uc001skx.2 - 13 2425 c.2052C>G c.(2050-2052)CTC>CTG p.L684L PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Silent_p.L683L|PAN2_uc001sky.2_Silent_p.L684L NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 684 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 CAGGGTAGGAGAGTGTGAAAA 0.532 NaN 0 0 0 0.01441 0 99 80 TMBIM4 51643 broad.mit.edu 37 12 66531814 66531814 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:66531814T>C uc001stc.2 - 7 719 c.643A>G c.(643-645)ATC>GTC p.I215V LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.I184V|TMBIM4_uc009zqr.2_Missense_Mutation_p.I262V|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR NM_016056 NP_057140 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 215 Helical; (Potential). integral to membrane protein binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(28;0.0745) TAGAGGCTGATGGCAGCTAAT 0.418 NaN 0 0 0 0.01441 0 35 80 ATP2B1 490 broad.mit.edu 37 12 89997570 89997570 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:89997570G>C uc001tbh.2 - 16 2948 c.2767C>G c.(2767-2769)CTC>GTC p.L923V ATP2B1_uc001tbg.2_Missense_Mutation_p.L923V|ATP2B1_uc001tbf.2_Missense_Mutation_p.L593V NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 923 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 CGTGAGATGAGAGGCTTATTT 0.418 NaN 0 0 0 0.01441 0 48 67 GLT8D2 83468 broad.mit.edu 37 12 104388223 104388223 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:104388223G>A uc001tkh.1 - 9 1063 c.657C>T c.(655-657)ATC>ATT p.I219I GLT8D2_uc001tki.1_Silent_p.I219I NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 219 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 TGCTGGGGCTGATGCCAAGGT 0.483 NaN 0 0 0 0.013726 0 28 27 APPL2 55198 broad.mit.edu 37 12 105582222 105582222 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:105582222G>T uc001tlf.1 - 17 1681 c.1463C>A c.(1462-1464)TCT>TAT p.S488Y APPL2_uc010swt.1_Missense_Mutation_p.S445Y|APPL2_uc001tlg.1_Missense_Mutation_p.S242Y|APPL2_uc010swu.1_Missense_Mutation_p.S494Y|APPL2_uc009zuq.2_Missense_Mutation_p.S445Y NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 488 PID. cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 CTGCAAAAGAGAATCTGGAAG 0.418 NaN 1 0 2.37509e-13 0.010504 2.50732e-13 17 20 MYO1H 283446 broad.mit.edu 37 12 109872912 109872912 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:109872912C>T uc010sxn.1 + 20 2086 c.2086C>T c.(2086-2088)CAA>TAA p.Q696* NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 TAGTAAACATCAACTAGGTAT 0.343 NaN 0 0 0 0.013537 0 10 18 RBM19 9904 broad.mit.edu 37 12 114392942 114392942 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:114392942G>A uc009zwi.2 - 7 1059 c.915C>T c.(913-915)GTC>GTT p.V305V RBM19_uc001tvn.3_Silent_p.V305V|RBM19_uc001tvm.2_Silent_p.V305V NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 305 RRM 2. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) ATACCTCTGTGACATTGAACG 0.572 NaN 0 0 0 0.001168 0 4 155 FBXO21 23014 broad.mit.edu 37 12 117595695 117595695 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:117595695G>A uc001twk.2 - 10 1560 c.1521C>T c.(1519-1521)CTC>CTT p.L507L FBXO21_uc001twj.2_Silent_p.L500L|FBXO21_uc009zwq.2_Silent_p.L440L|FBXO21_uc001twl.1_Silent_p.L120L NM_033624 NP_296373 O94952 FBX21_HUMAN F-box only protein 21 isoform 1 507 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GCTTCATAATGAGCCCGATGG 0.562 NaN 0 0 0 0.01441 0 51 65 WSB2 55884 broad.mit.edu 37 12 118490215 118490215 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:118490215C>G uc001twr.2 - 2 180 c.82G>C c.(82-84)GAA>CAA p.E28Q WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.E28Q NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN WD SOCS-box protein 2 28 intracellular signal transduction ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCAGGTTTCACAGCTGGAC 0.587 NaN 0 0 0 0.01441 0 78 106 GPR81 27198 broad.mit.edu 37 12 123214482 123214482 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:123214482G>A uc001ucz.2 - 1 648 c.405C>T c.(403-405)ATC>ATT p.I135I GPR81_uc001ucw.1_RNA NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN G protein-coupled receptor 81 135 Helical; Name=4; (Potential). response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197) GGGTGCAGACGATGCCAGCCG 0.592 NaN 0 0 0 0.01441 0 63 60 DNAH10 196385 broad.mit.edu 37 12 124415937 124415937 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:124415937C>G uc001uft.3 + 73 12505 c.12480C>G c.(12478-12480)CTC>CTG p.L4160L DNAH10_uc001ufu.3_Silent_p.L73L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4160 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) TGTTTGGTCTCCACCCCAACG 0.577 NaN 0 0 0 0.004878 0 29 49 DHX37 57647 broad.mit.edu 37 12 125451375 125451375 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:125451375C>T uc001ugy.2 - 12 1653 c.1554G>A c.(1552-1554)AAG>AAA p.K518K NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 518 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCCTTGACTTCTTAAACTTCC 0.537 NaN 0 0 0 0.013114 0 34 58 ZMYM2 7750 broad.mit.edu 37 13 20608481 20608481 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:20608481G>A uc001umr.2 + 12 2354 c.2056G>A c.(2056-2058)GAG>AAG p.E686K ZMYM2_uc001ums.2_Missense_Mutation_p.E686K|ZMYM2_uc001umt.2_Missense_Mutation_p.E686K|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.E66K|ZMYM2_uc001umw.2_Missense_Mutation_p.E139K NM_003453 NP_003444 Q9UBW7 ZMYM2_HUMAN zinc finger protein 198 686 MYM-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding lung(3)|ovary(2)|prostate(1) 6 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) ATACTGTCAAGAGGAGAAGAC 0.358 NaN 0 0 0 0.013726 0 30 53 SACS 26278 broad.mit.edu 37 13 23909330 23909330 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:23909330G>A uc001uon.2 - 10 9274 c.8685C>T c.(8683-8685)AAC>AAT p.N2895N SACS_uc001uoo.2_Silent_p.N2748N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2895 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CACGCCACAGGTTCCTTCTGG 0.433 NaN 0 0 0 0.00623 0 35 28 SACS 26278 broad.mit.edu 37 13 23915753 23915753 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:23915753G>A uc001uon.2 - 10 2851 c.2262C>T c.(2260-2262)TTC>TTT p.F754F SACS_uc001uoo.2_Silent_p.F607F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Silent_p.F607F NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 754 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGCCAGGCCAGAATGTATTCA 0.373 NaN 0 0 0 0.009718 0 31 52 C13orf26 122046 broad.mit.edu 37 13 31506889 31506889 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:31506889C>T uc001uti.2 + 1 56 c.37C>T c.(37-39)CTC>TTC p.L13F uc001utg.1_5'Flank NM_152325 NP_689538 Q8N6G2 CM026_HUMAN hypothetical protein LOC122046 13 ovary(2)|skin(1) 3 Lung SC(185;0.0281) all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852) GGATCCCTCTCTCTGCCACCA 0.672 NaN 0 0 0 0.007413 0 15 22 RXFP2 122042 broad.mit.edu 37 13 32366994 32366994 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:32366994G>C uc001utt.2 + 16 1626 c.1555G>C c.(1555-1557)GAG>CAG p.E519Q RXFP2_uc010aba.2_Missense_Mutation_p.E478Q NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 519 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) CTTGACTTTGGAGAAGTTCCT 0.517 NaN 0 0 0 0.003954 0 20 28 TRPC4 7223 broad.mit.edu 37 13 38225530 38225530 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:38225530C>A uc001uws.2 - 8 2186 c.1951G>T c.(1951-1953)GGT>TGT p.G651C TRPC4_uc010abv.2_Missense_Mutation_p.G231C|TRPC4_uc001uwt.2_Missense_Mutation_p.G651C|TRPC4_uc010tey.1_Missense_Mutation_p.G651C|TRPC4_uc010abw.2_Missense_Mutation_p.G478C|TRPC4_uc010abx.2_Missense_Mutation_p.G651C|TRPC4_uc010aby.2_Intron NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 651 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GGCAGAGTACCTCCTTCTTCA 0.433 NaN 1 0 3.13765e-25 0.01441 3.40719e-25 60 47 UTP14C 9724 broad.mit.edu 37 13 52603133 52603133 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:52603133G>C uc001vgb.2 + 2 728 c.193G>C c.(193-195)GAG>CAG p.E65Q UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 65 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TGAGAGGTCTGAGGCTAGTCT 0.468 NaN 0 0 0 0.01441 0 74 164 TBC1D4 9882 broad.mit.edu 37 13 75933988 75933988 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:75933988G>A uc001vjl.1 - 3 1434 c.1087C>T c.(1087-1089)CGA>TGA p.R363* TBC1D4_uc010aer.2_Nonsense_Mutation_p.R363*|TBC1D4_uc010aes.2_Nonsense_Mutation_p.R363* NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 363 PID 2. cytoplasm Rab GTPase activator activity p.R363Q(1) ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) ATCTCAAATCGCCCAACCTTA 0.274 NaN 0 0 0 0.010729 0 11 38 MYCBP2 23077 broad.mit.edu 37 13 77667465 77667465 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:77667465T>C uc001vkf.2 - 60 10179 c.10088A>G c.(10087-10089)CAT>CGT p.H3363R MYCBP2_uc010aev.2_Missense_Mutation_p.H2767R|MYCBP2_uc001vke.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3363 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) TTCATGATGATGCCTGCATTA 0.358 NaN 0 0 0 0.001984 0 7 127 DOCK9 23348 broad.mit.edu 37 13 99538841 99538841 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:99538841C>G uc001vnt.2 - 19 2139 c.2084G>C c.(2083-2085)AGA>ACA p.R695T DOCK9_uc001vnw.2_Missense_Mutation_p.R694T|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R695T|DOCK9_uc010tis.1_Missense_Mutation_p.R694T|DOCK9_uc010tit.1_Missense_Mutation_p.R695T|DOCK9_uc010afu.1_Missense_Mutation_p.R510T NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 695 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AAAGGCGCTTCTTGTGAAAAC 0.383 NaN 0 0 0 0.007413 0 13 15 ARHGEF7 8874 broad.mit.edu 37 13 111929934 111929934 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:111929934G>A uc001vrs.2 + 14 1733 c.1483G>A c.(1483-1485)GAA>AAA p.E495K ARHGEF7_uc001vrr.2_Missense_Mutation_p.E474K|ARHGEF7_uc001vrt.2_Missense_Mutation_p.E445K|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.E317K|ARHGEF7_uc001vrv.3_Missense_Mutation_p.E317K|ARHGEF7_uc001vrw.3_Missense_Mutation_p.E317K|ARHGEF7_uc001vrx.3_Missense_Mutation_p.E317K|ARHGEF7_uc010tjo.1_Missense_Mutation_p.E392K|ARHGEF7_uc010tjp.1_Missense_Mutation_p.E239K NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 495 PH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TTTGTATTAGGAAAAGAATGA 0.313 NaN 0 0 0 0.008291 0 9 19 TMEM63C 57156 broad.mit.edu 37 14 77709324 77709324 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:77709324C>G uc001xtf.2 + 15 1478 c.1266C>G c.(1264-1266)TTC>TTG p.F422L TMEM63C_uc010asq.1_Missense_Mutation_p.F422L NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 422 Helical; (Potential). integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TCCTCTTCTTCTTTCTCACCA 0.552 NaN 0 0 0 0.010504 0 19 31 SPTLC2 9517 broad.mit.edu 37 14 77984460 77984460 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:77984460C>G uc001xub.2 - 11 1678 c.1490G>C c.(1489-1491)GGA>GCA p.G497A NM_004863 NP_004854 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base 497 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups upper_aerodigestive_tract(1)|ovary(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGCAGGAAATCCAACCACAAC 0.483 NaN 0 0 0 0.004656 0 25 41 TDP1 55775 broad.mit.edu 37 14 90437609 90437609 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:90437609C>T uc001xxy.2 + 6 1049 c.750C>T c.(748-750)CTC>CTT p.L250L TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.L250L|TDP1_uc010atn.2_Silent_p.L250L|TDP1_uc001xya.2_Missense_Mutation_p.S23F|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.L250L NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 250 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) ACATCTCTCTCTGCCAGGTAA 0.378 NaN Repair_of_DNA-protein_crosslinks 0 0 0 0.01441 0 41 29 SERPINA11 256394 broad.mit.edu 37 14 94914896 94914896 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:94914896G>A uc001ydd.1 - 2 276 c.216C>T c.(214-216)AAC>AAT p.N72N NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 72 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) AGAAGAAGATGTTTCCGGGGG 0.567 NaN 0 0 0 0.01441 0 82 107 PAPOLA 10914 broad.mit.edu 37 14 96991650 96991650 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:96991650C>G uc001yfq.2 + 4 463 c.253C>G c.(253-255)CTT>GTT p.L85V PAPOLA_uc001yfo.2_Missense_Mutation_p.L85V|PAPOLA_uc001yfp.2_Missense_Mutation_p.L85V|PAPOLA_uc001yfr.2_Missense_Mutation_p.L85V|PAPOLA_uc010twv.1_Missense_Mutation_p.L85V|PAPOLA_uc010avp.2_Translation_Start_Site NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 85 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TCAACAGAATCTTCCACAATC 0.333 NaN 0 0 0 0.010504 0 15 31 RTL1 388015 broad.mit.edu 37 14 101349286 101349286 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:101349286C>T uc010txj.1 - 1 1899 c.1840G>A c.(1840-1842)GCG>ACG p.A614T uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 614 pancreas(1) 1 TCCCAAGGCGCGGTGGAGGGA 0.552 NaN 0 0 0 0.010729 0 11 29 WDR20 91833 broad.mit.edu 37 14 102606455 102606455 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:102606455C>G uc001ykz.2 + 1 244 c.195C>G c.(193-195)CTC>CTG p.L65L WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_5'UTR|WDR20_uc001ylb.2_Silent_p.L65L|WDR20_uc010txu.1_Silent_p.L65L|WDR20_uc001ylc.2_Silent_p.L65L|WDR20_uc001yld.2_Silent_p.L65L|WDR20_uc001yle.2_Silent_p.L65L|WDR20_uc001ylf.2_Silent_p.L65L|HSP90AA1_uc001ykv.3_5'Flank NM_144574 NP_653175 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 isoform 2 65 0 GCGACCGCCTCTGCTTCAATG 0.637 NaN 0 0 0 0.007291 0 25 25 SLC12A6 9990 broad.mit.edu 37 15 34544565 34544565 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:34544565C>T uc001zhw.2 - 9 1303 c.1139G>A c.(1138-1140)CGC>CAC p.R380H SLC12A6_uc001zhv.2_Missense_Mutation_p.R329H|SLC12A6_uc001zhx.2_Missense_Mutation_p.R365H|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.R321H|SLC12A6_uc001zib.2_Missense_Mutation_p.R371H|SLC12A6_uc001zic.2_Missense_Mutation_p.R380H|SLC12A6_uc010bau.2_Missense_Mutation_p.R380H|SLC12A6_uc001zid.2_Missense_Mutation_p.R321H|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.R192H NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 380 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TGAAAGGGTGCGGTTACCCAG 0.383 NaN 0 0 0 0.007291 0 23 40 OIP5 11339 broad.mit.edu 37 15 41624731 41624731 + Nonsense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:41624731G>C uc001znp.2 - 1 89 c.29C>G c.(28-30)TCA>TGA p.S10* NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank NM_007280 NP_009211 O43482 MS18B_HUMAN Opa interacting protein 5 10 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) TGCACAACGTGAGCGATGCCG 0.637 NaN 0 0 0 0.01441 0 59 62 RTF1 23168 broad.mit.edu 37 15 41763545 41763545 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:41763545C>T uc001zny.2 + 8 1213 c.1201C>T c.(1201-1203)CGG>TGG p.R401W NM_015138 NP_055953 Q92541 RTF1_HUMAN Paf1/RNA polymerase II complex component 401 Plus3. R->E: Loss of binding to single-stranded DNA. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) ACCAGTTTACCGGGTTGGTAT 0.443 NaN 0 0 0 0.007291 0 27 31 PDIA3 2923 broad.mit.edu 37 15 44057680 44057680 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:44057680C>G uc001zsu.2 + 6 783 c.635C>G c.(634-636)ACT>AGT p.T212S PDIA3_uc010bdp.2_Missense_Mutation_p.T192S|PDIA3_uc010ued.1_5'UTR NM_005313 NP_005304 P30101 PDIA3_HUMAN protein disulfide-isomerase A3 precursor 212 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1)|skin(1) 2 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) TCACATCTCACTAACAAGTTT 0.348 NaN 0 0 0 0.005524 0 33 46 SLC27A2 11001 broad.mit.edu 37 15 50519256 50519256 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:50519256G>C uc001zxw.2 + 7 1570 c.1338G>C c.(1336-1338)GAG>GAC p.E446D SLC27A2_uc010bes.2_Missense_Mutation_p.E393D|SLC27A2_uc001zxx.2_Missense_Mutation_p.E211D NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 446 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CTCAGACAGAGAAGAAAAAAC 0.383 NaN 0 0 0 0.008291 0 10 13 TMOD2 29767 broad.mit.edu 37 15 52090495 52090495 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:52090495G>A uc002abk.2 + 8 1055 c.834G>A c.(832-834)CTG>CTA p.L278L TMOD2_uc002abl.3_Silent_p.L242L|TMOD2_uc010bfb.2_Silent_p.L234L NM_014548 NP_055363 Q9NZR1 TMOD2_HUMAN neuronal tropomodulin isoform a 278 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(2) 2 all cancers(107;0.00435) TAGAGGCACTGAAAGAAAATG 0.453 NaN 0 0 0 0.013537 0 9 22 HERC1 8925 broad.mit.edu 37 15 64048748 64048748 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:64048748G>A uc002amp.2 - 5 1569 c.1421C>T c.(1420-1422)ACG>ATG p.T474M HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.T474M NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 474 WD 1.|RCC1 2. 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 TCCTTCTGTCGTAAAGGCTAA 0.393 NaN 0 0 0 0.012213 0 31 29 DENND4A 10260 broad.mit.edu 37 15 65982875 65982875 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:65982875C>G uc002aph.2 - 22 4303 c.3925G>C c.(3925-3927)GAT>CAT p.D1309H DENND4A_uc002api.2_Missense_Mutation_p.D1352H|DENND4A_uc002apj.3_Missense_Mutation_p.D1309H NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 AGTAGTGTATCTAAGTTAAAT 0.398 NaN 0 0 0 0.010818 0 23 32 ITGA11 22801 broad.mit.edu 37 15 68649618 68649618 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:68649618C>G uc002ari.2 - 7 707 c.620G>C c.(619-621)GGC>GCC p.G207A ITGA11_uc010bib.2_Missense_Mutation_p.G207A NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 207 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CACATCTTCGCCATACTGCAC 0.507 NaN 0 0 0 0.01441 0 43 59 SIN3A 25942 broad.mit.edu 37 15 75668200 75668200 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:75668200T>C uc002bai.2 - 20 3656 c.3397A>G c.(3397-3399)ATC>GTC p.I1133V SIN3A_uc002baj.2_Missense_Mutation_p.I1133V|SIN3A_uc010uml.1_Missense_Mutation_p.I1133V NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 1133 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 CACTTCCGGATCCGCCGTAGA 0.493 NaN 0 0 0 0.01441 0 19 95 SIN3A 25942 broad.mit.edu 37 15 75676654 75676654 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:75676654G>T uc002bai.2 - 17 3405 c.3146C>A c.(3145-3147)ACG>AAG p.T1049K SIN3A_uc002baj.2_Missense_Mutation_p.T1049K|SIN3A_uc010uml.1_Missense_Mutation_p.T1049K NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 1049 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 CCGCTGATACGTTGACTCCAG 0.493 NaN 1 0 4.1943e-16 0.008291 4.44686e-16 8 144 PTPN9 5780 broad.mit.edu 37 15 75798201 75798201 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:75798201G>A uc002bal.2 - 7 1291 c.783C>T c.(781-783)TTC>TTT p.F261F NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 261 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 TGATCTCATCGAAGGGATCTG 0.527 NaN 0 0 0 0.005443 0 23 46 ACAN 176 broad.mit.edu 37 15 89398558 89398558 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:89398558G>A uc010upo.1 + 12 3116 c.2742G>A c.(2740-2742)GTG>GTA p.V914V ACAN_uc010upp.1_Silent_p.V914V|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 914 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GCCTGCCTGTGGAAAGTGGAC 0.587 NaN 0 0 0 0.003163 0 12 16 IQGAP1 8826 broad.mit.edu 37 15 91025471 91025471 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:91025471G>A uc002bpl.1 + 28 3614 c.3513G>A c.(3511-3513)TTG>TTA p.L1171L NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1171 Ras-GAP.|C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AGGACTCGTTGCATGAGAAGT 0.502 NaN OREG0023473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 41 65 CHTF18 63922 broad.mit.edu 37 16 847068 847068 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:847068G>C uc002cke.3 + 20 2772 c.2709G>C c.(2707-2709)ATG>ATC p.M903I CHTF18_uc002ckf.3_Missense_Mutation_p.M931I|CHTF18_uc010brf.2_Missense_Mutation_p.M485I|CHTF18_uc002ckg.3_Missense_Mutation_p.M421I NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 903 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity kidney(1) 1 Hepatocellular(780;0.00335) AGCACATCATGAGGCGAGCGG 0.672 NaN 0 0 0 0.01441 0 43 48 TPSAB1 7177 broad.mit.edu 37 16 1291238 1291238 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:1291238G>C uc002ckz.2 + 3 198 c.146G>C c.(145-147)AGA>ACA p.R49T TPSAB1_uc010uux.1_5'UTR NM_003294 NP_003285 Q15661 TRYB1_HUMAN tryptase alpha/beta 1 precursor 49 Peptidase S1. defense response|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) GTGAGCCTGAGAGTCCACGGC 0.706 NaN 0 0 0 0.010818 0 27 55 SYNGR3 9143 broad.mit.edu 37 16 2042986 2042986 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:2042986C>T uc002cod.2 + 4 739 c.603C>T c.(601-603)GGC>GGT p.G201G NM_004209 NP_004200 O43761 SNG3_HUMAN synaptogyrin 3 201 positive regulation of transporter activity cell junction|integral to plasma membrane|synaptic vesicle 0 TGGGCAGCGGCGTGGAGGGCA 0.692 NaN 0 0 0 0.008871 0 13 26 ZNF200 7752 broad.mit.edu 37 16 3274554 3274554 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:3274554C>G uc002cuj.2 - 5 1158 c.526G>C c.(526-528)GAT>CAT p.D176H ZNF200_uc002cum.3_Missense_Mutation_p.D175H|ZNF200_uc010bti.2_Missense_Mutation_p.D175H|ZNF200_uc002cuk.2_Missense_Mutation_p.D176H|ZNF200_uc002cui.2_Missense_Mutation_p.D175H|ZNF200_uc002cul.3_Missense_Mutation_p.D175H NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TCTCTATAATCTTCATTTTCT 0.398 NaN 0 0 0 0.004672 0 3 41 PPL 5493 broad.mit.edu 37 16 4938143 4938143 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:4938143C>T uc002cyd.1 - 20 2564 c.2474G>A c.(2473-2475)AGA>AAA p.R825K NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 825 Spectrin 4. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GAGCCTGGCTCTCTTGCTCAC 0.562 NaN 0 0 0 0.01441 0 41 41 NOMO1 23420 broad.mit.edu 37 16 14969017 14969017 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:14969017G>A uc002dcv.2 + 19 2245 c.2179G>A c.(2179-2181)GAG>AAG p.E727K NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 727 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 AAACGGCAATGAGGAAGGCGA 0.567 NaN 0 0 0 0.01441 0 78 169 DNAH3 55567 broad.mit.edu 37 16 20990840 20990840 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:20990840C>G uc010vbe.1 - 50 7888 c.7888G>C c.(7888-7890)GAG>CAG p.E2630Q DNAH3_uc010vbd.1_Missense_Mutation_p.E65Q NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2630 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TTGACGCTCTCTTGGAAATAT 0.463 NaN 0 0 0 0.01441 0 42 51 ITGAX 3687 broad.mit.edu 37 16 31383090 31383090 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:31383090C>T uc002ebu.1 + 17 2212 c.2145C>T c.(2143-2145)TTC>TTT p.F715F ITGAX_uc002ebt.2_Silent_p.F715F NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 715 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTGAAAACTTCAACCTGCTGC 0.542 NaN 0 0 0 0.003271 0 24 35 DYNC1LI2 1783 broad.mit.edu 37 16 66766331 66766331 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:66766331G>C uc002eqb.1 - 7 871 c.840C>G c.(838-840)CTC>CTG p.L280L DYNC1LI2_uc010vis.1_Silent_p.L203L|DYNC1LI2_uc010vit.1_Silent_p.L280L|DYNC1LI2_uc010viu.1_Silent_p.L241L NM_006141 NP_006132 O43237 DC1L2_HUMAN dynein, cytoplasmic, light intermediate 280 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|skin(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) ACAACAAGTCGAGGTTTTTCT 0.373 NaN 0 0 0 0.008291 0 10 23 TMEM231 79583 broad.mit.edu 37 16 75579280 75579280 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:75579280C>T uc002fem.2 - 4 615 c.552G>A c.(550-552)CTG>CTA p.L184L CHST5_uc002fej.1_5'UTR|TMEM231_uc002fek.2_Silent_p.L213L|TMEM231_uc002fel.2_Silent_p.L68L|TMEM231_uc010vne.1_Silent_p.L37L|TMEM231_uc010cgx.1_Silent_p.L148L NM_001077418 NP_001070886 Q9H6L2 TM231_HUMAN transmembrane protein 231 isoform 2 184 integral to membrane 0 CACCACAGCTCAGCGGCTGCT 0.517 NaN 0 0 0 0.01441 0 46 72 USP10 9100 broad.mit.edu 37 16 84778635 84778635 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:84778635C>T uc002fii.2 + 4 690 c.548C>T c.(547-549)TCA>TTA p.S183L USP10_uc010voe.1_Missense_Mutation_p.S187L|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR NM_005153 NP_005144 Q14694 UBP10_HUMAN ubiquitin specific protease 10 183 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 CATGCCAATTCAGCAGTCCCG 0.498 NaN 0 0 0 0.01441 0 35 38 FOXF1 2294 broad.mit.edu 37 16 86544388 86544388 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:86544388G>A uc002fjl.2 + 1 256 c.213G>A c.(211-213)CTG>CTA p.L71L uc002fjk.1_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN forkhead box F1 71 Fork-head. branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding 0 GCCTGACGCTGAGCGAGATCT 0.627 NaN 0 0 0 0.013114 0 37 27 OR3A2 4995 broad.mit.edu 37 17 3181494 3181494 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:3181494C>T uc002fvg.2 - 1 775 c.736G>A c.(736-738)GCC>ACC p.A246T NM_002551 NP_002542 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, 246 Cytoplasmic (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 GTGGAGAAGGCCTTCTTTCGG 0.517 NaN 0 0 0 0.001855 0 10 16 CHD3 1107 broad.mit.edu 37 17 7797534 7797534 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:7797534C>T uc002gje.2 + 7 1176 c.1026C>T c.(1024-1026)GTC>GTT p.V342V CHD3_uc002gjd.2_Silent_p.V401V|CHD3_uc002gjf.2_Silent_p.V342V|CHD3_uc002gjg.1_Silent_p.V170V NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 342 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) ATGGCCCTGTCCGCACCAAGA 0.557 NaN 0 0 0 0.007413 0 20 4 UBB 7314 broad.mit.edu 37 17 16285453 16285453 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:16285453C>A uc002gpx.2 + 2 370 c.232C>A c.(232-234)CAG>AAG p.Q78K UBB_uc010vwe.1_Intron NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 78 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGGTGGTATGCAGATCTTCGT 0.537 NaN 1 0 6.4e-05 0.004672 6.57333e-05 3 41 UBB 7314 broad.mit.edu 37 17 16285681 16285681 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:16285681C>A uc002gpx.2 + 2 598 c.460C>A c.(460-462)CAG>AAG p.Q154K UBB_uc010vwe.1_Missense_Mutation_p.Q78K NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 154 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGGTGGTATGCAGATCTTCGT 0.537 NaN 1 0 6.4e-05 0.004672 6.57333e-05 3 47 KCNJ12 3768 broad.mit.edu 37 17 21319000 21319000 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:21319000G>A uc002gyv.1 + 3 1051 c.346G>A c.(346-348)GAG>AAG p.E116K NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 116 Extracellular (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GGAGCCGGCTGAGGGCCGGGG 0.647 NaN Prostate(3;0.18) 0 0 0 0.00499 0 13 46 GIT1 28964 broad.mit.edu 37 17 27903633 27903633 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:27903633C>T uc002hef.2 - 13 1501 c.1287G>A c.(1285-1287)CTG>CTA p.L429L GIT1_uc002heg.2_Silent_p.L438L|GIT1_uc010wbg.1_Silent_p.L438L|GIT1_uc010csb.1_Silent_p.L429L NM_014030 NP_054749 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interactor 1 429 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding 0 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GGGCCTTCTTCAGCTCCAGGT 0.617 NaN 0 0 0 0.005443 0 25 30 CORO6 84940 broad.mit.edu 37 17 27946116 27946116 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:27946116G>C uc002hel.2 - 3 415 c.413C>G c.(412-414)TCC>TGC p.S138C CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 138 WD 2. actin cytoskeleton organization actin cytoskeleton actin filament binding 0 AGGGTGCCAGGAGAGGATGCC 0.597 NaN 0 0 0 0.003954 0 26 31 LYZL6 57151 broad.mit.edu 37 17 34261801 34261801 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:34261801C>T uc002hkj.1 - 4 596 c.446G>A c.(445-447)TGA>TAA p.*149* LYZL6_uc002hkk.1_Silent_p.*149* NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 149 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CACCCTGTTTCATCTCAGGCG 0.512 NaN 0 0 0 0.01441 0 40 53 TBC1D3B 414059 broad.mit.edu 37 17 34499268 34499268 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:34499268T>C uc002hky.2 - 7 593 c.443A>G c.(442-444)GAC>GGC p.D148G uc002hla.1_5'Flank|uc002hlc.2_5'Flank NM_001001417 NP_001001417 Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3B 148 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCGCTTATGTCCCGGTCGAT 0.547 NaN 0 0 0 0.01441 0 24 358 GGNBP2 79893 broad.mit.edu 37 17 34910697 34910697 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:34910697G>A uc002hnb.2 + 3 379 c.130G>A c.(130-132)GAT>AAT p.D44N GGNBP2_uc002hna.2_Missense_Mutation_p.D44N NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 44 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GTTAAATCTCGATGGACATCA 0.348 NaN 0 0 0 0.01441 0 69 94 PIP4K2B 8396 broad.mit.edu 37 17 36955630 36955630 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:36955630G>C uc002hqs.2 - 1 529 c.48C>G c.(46-48)CTC>CTG p.L16L PIP4K2B_uc010wdt.1_Silent_p.L16L NM_003559 NP_003550 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 16 cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity ovary(1) 1 TGCTGGCGCTGAGCGGCGCCA 0.557 NaN 0 0 0 0.004007 0 14 20 MED1 5469 broad.mit.edu 37 17 37564544 37564544 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:37564544C>T uc002hrv.3 - 17 4142 c.3930G>A c.(3928-3930)CTG>CTA p.L1310L MED1_uc010wee.1_Silent_p.L1138L|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1310 Ser-rich.|Interaction with TP53. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CCCCATGCTTCAGTTTATCTA 0.522 NaN HNSCC(31;0.082) 0 0 0 0.01441 0 44 61 ERBB2 2064 broad.mit.edu 37 17 37879820 37879820 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:37879820G>A uc002hso.2 + 18 2353 c.2115G>A c.(2113-2115)GCG>GCA p.A705A ERBB2_uc002hsm.2_Silent_p.A675A|ERBB2_uc010cwa.2_Silent_p.A690A|ERBB2_uc002hsp.2_Silent_p.A508A|ERBB2_uc010cwb.2_Silent_p.A705A|ERBB2_uc010wek.1_Silent_p.A429A NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 705 Cytoplasmic (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTAGCGGAGCGATGCCCAACC 0.652 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.00308 0 6 8 RAPGEFL1 51195 broad.mit.edu 37 17 38345517 38345517 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:38345517C>T uc010cwu.1 + 6 876 c.386C>T c.(385-387)TCA>TTA p.S129L RAPGEFL1_uc010wfd.1_Missense_Mutation_p.S65L NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 335 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 AGCCGCCTTTCAGCATCTGTG 0.537 NaN 0 0 0 0.006214 0 9 246 KRT20 54474 broad.mit.edu 37 17 39041067 39041067 + Missense_Mutation SNP A A G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:39041067A>G uc002hvl.2 - 1 413 c.371T>C c.(370-372)ATT>ACT p.I124T NM_019010 NP_061883 P35900 K1C20_HUMAN keratin 20 124 Coil 1B.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton large_intestine(1)|kidney(1)|skin(1) 3 Breast(137;0.000301)|Ovarian(249;0.15) CAGCTCTTCAATTTGTCTGTA 0.458 NaN 0 0 0 0.01441 0 38 58 STAT5B 6777 broad.mit.edu 37 17 40370258 40370258 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:40370258C>T uc002hzh.2 - 9 1249 c.1080G>A c.(1078-1080)CTG>CTA p.L360L STAT5B_uc002hzi.3_Silent_p.L360L NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 360 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TGTGCACGTTCAGCTTCCCGC 0.577 NaN 0 0 0 0.000602 0 5 105 NBR1 4077 broad.mit.edu 37 17 41345231 41345231 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:41345231G>A uc010czd.2 + 11 1334 c.1194G>A c.(1192-1194)ATG>ATA p.M398I NBR1_uc010diz.2_Missense_Mutation_p.M398I|NBR1_uc010whu.1_Missense_Mutation_p.M398I|NBR1_uc010whv.1_Missense_Mutation_p.M398I|NBR1_uc010whw.1_Missense_Mutation_p.M377I|NBR1_uc010whx.1_Missense_Mutation_p.M207I NM_031862 NP_114068 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 398 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding skin(1) 1 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) ACTGGAGGATGAAAAATACAG 0.443 NaN 0 0 0 0.006214 0 9 21 ETV4 2118 broad.mit.edu 37 17 41606896 41606896 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:41606896C>T uc002idw.2 - 11 1232 c.1104G>A c.(1102-1104)GAG>GAA p.E368E ETV4_uc002idv.2_Silent_p.E91E|ETV4_uc010wih.1_Silent_p.E314E|ETV4_uc010czh.2_Silent_p.E367E|ETV4_uc010wii.1_Silent_p.E329E|ETV4_uc002idx.2_Silent_p.E368E|ETV4_uc010wij.1_Silent_p.E329E NM_001986 NP_001977 P43268 ETV4_HUMAN ets variant gene 4 (E1A enhancer binding 368 ETS. positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6) bone(4)|soft_tissue(2)|ovary(1) 7 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) TGAGCTTGAACTCCATTCCCC 0.587 NaN T EWSR1|TMPRSS2|DDX5|KLK2|CANT1 Ewing sarcoma|Prostate carcinoma 0 0 0 0.008361 0 28 38 CRHR1 1394 broad.mit.edu 37 17 43912040 43912040 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:43912040G>A uc010dap.2 + 14 1510 c.1245G>A c.(1243-1245)TCG>TCA p.S415S CRHR1_uc010wjx.1_Silent_p.S211S|CRHR1_uc002ijp.2_Missense_Mutation_p.R240Q|CRHR1_uc002ijm.2_Silent_p.S386S|CRHR1_uc002ijn.2_Silent_p.S346S|CRHR1_uc010dar.2_Silent_p.S372S|CRHR1_uc010dao.2_Silent_p.S285S|CRHR1_uc010daq.2_Silent_p.S211S NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 415 Cytoplasmic (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) ACAAGCACTCGATCCGTGCCC 0.637 NaN 0 0 0 0.01441 0 55 58 FAM117A 81558 broad.mit.edu 37 17 47797711 47797711 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:47797711G>C uc002ipk.2 - 4 619 c.550C>G c.(550-552)CAC>GAC p.H184D FAM117A_uc010wlz.1_5'UTR NM_030802 NP_110429 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 184 ovary(1) 1 CGCACTGCGTGGTCCCCTAGG 0.587 NaN 0 0 0 0.01441 0 50 99 ITGA3 3675 broad.mit.edu 37 17 48133990 48133990 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:48133990G>A uc010dbl.2 + 1 651 c.187G>A c.(187-189)GAG>AAG p.E63K ITGA3_uc010dbm.2_Missense_Mutation_p.E63K NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 63 FG-GAP 1.|Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 TCGGCAGACAGAGCGGCAGCA 0.662 NaN 0 0 0 0.00499 0 12 17 ABCC3 8714 broad.mit.edu 37 17 48750918 48750918 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:48750918G>A uc002isl.2 + 19 2578 c.2498G>A c.(2497-2499)GGC>GAC p.G833D NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 833 ABC transporter 1.|Cytoplasmic (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCTGAGATGGGCCCGTACCCA 0.602 NaN 0 0 0 0.007291 0 27 120 ANKRD40 91369 broad.mit.edu 37 17 48784970 48784970 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:48784970C>T uc002iso.2 - 1 301 c.46G>A c.(46-48)GAG>AAG p.E16K NM_052855 NP_443087 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 16 ANK 1. 0 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) GCCGCGGCCTCCCGCAGCCTC 0.493 NaN 0 0 0 0.01441 0 65 114 GDPD1 284161 broad.mit.edu 37 17 57335175 57335175 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:57335175G>C uc002ixk.1 + 6 687 c.550G>C c.(550-552)GAA>CAA p.E184Q GDPD1_uc002ixj.2_Missense_Mutation_p.E184Q NM_182569 NP_872375 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain 184 Cytoplasmic (Potential).|GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TGCCAATTATGAAATTGTAGA 0.323 NaN 0 0 0 0.01441 0 40 54 INTS2 57508 broad.mit.edu 37 17 59981823 59981823 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:59981823G>A uc002izn.2 - 9 1405 c.1329C>T c.(1327-1329)GTC>GTT p.V443V INTS2_uc002izm.2_Silent_p.V435V NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 443 Helical; (Potential). snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 TTAGGTACCTGACAAGTGTAG 0.388 NaN 0 0 0 0.000602 0 3 5 WIPI1 55062 broad.mit.edu 37 17 66430741 66430741 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:66430741G>A uc010dey.2 - 7 739 c.648C>T c.(646-648)GTC>GTT p.V216V WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Silent_p.V134V|WIPI1_uc002jhe.3_RNA NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 216 WD 1. macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding 0 GCCCATCAGGGACAGAGAACA 0.488 NaN 0 0 0 0.009535 0 24 36 ABCA5 23461 broad.mit.edu 37 17 67255906 67255906 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:67255906G>C uc002jif.2 - 27 4890 c.3672C>G c.(3670-3672)CTC>CTG p.L1224L ABCA5_uc002jib.2_Silent_p.L190L|ABCA5_uc002jic.2_Silent_p.L447L|ABCA5_uc002jid.2_Silent_p.L141L|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.L1224L NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 1224 Helical; (Potential). cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) AGTATTGTAAGAGGAAAATCC 0.269 NaN 0 0 0 0.00632 0 21 39 COG1 9382 broad.mit.edu 37 17 71197795 71197795 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:71197795C>T uc002jjg.2 + 7 1865 c.1829C>T c.(1828-1830)TCA>TTA p.S610L COG1_uc002jjh.2_Missense_Mutation_p.S610L|COG1_uc002jjf.1_Missense_Mutation_p.S610L NM_018714 NP_061184 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 610 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) AAGCTGCACTCAGTTCTTTTC 0.552 NaN 0 0 0 0.010504 0 20 27 ITGB4 3691 broad.mit.edu 37 17 73749862 73749862 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:73749862C>G uc002jpg.2 + 33 4312 c.4125C>G c.(4123-4125)TTC>TTG p.F1375L ITGB4_uc002jph.2_Intron|ITGB4_uc002jpi.3_Intron|ITGB4_uc002jpj.2_Intron|GALK1_uc010wsi.1_Intron NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1375 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGGAAGTTCGAGCCCCTGC 0.657 NaN 0 0 0 0.012319 0 14 15 GALK1 2584 broad.mit.edu 37 17 73759154 73759154 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:73759154G>A uc010wsi.1 - 4 615 c.552C>T c.(550-552)ATC>ATT p.I184I GALK1_uc002jpk.2_Silent_p.I184I|GALK1_uc010wsj.1_3'UTR NM_000154 NP_000145 P51570 GALK1_HUMAN galactokinase 1 184 I -> M. galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding 0 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACTGGTCCATGATGCCACAGG 0.632 NaN 0 0 0 0.01441 0 42 64 AZI1 22994 broad.mit.edu 37 17 79170817 79170817 + Silent SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:79170817C>A uc002jzp.1 - 14 1895 c.1695G>T c.(1693-1695)CTG>CTT p.L565L AZI1_uc002jzm.1_5'UTR|AZI1_uc002jzn.1_Silent_p.L562L|AZI1_uc002jzo.1_Silent_p.L562L|AZI1_uc010wum.1_Silent_p.L565L|AZI1_uc002jzq.2_5'Flank NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 565 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCTCGGACCCCAGCTCCAGGG 0.692 NaN 1 0 3.09899e-07 0.004482 3.20966e-07 7 6 LRRC45 201255 broad.mit.edu 37 17 79988565 79988565 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:79988565G>A uc002kde.2 + 17 2137 c.1897G>A c.(1897-1899)GAG>AAG p.E633K RAC3_uc002kdf.2_5'Flank NM_144999 NP_659436 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 633 Potential. centrosome pancreas(1) 1 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GCGGCTCCGGGAGGCGGAGAT 0.697 NaN 0 0 0 0.00308 0 7 3 FOXK2 3607 broad.mit.edu 37 17 80478010 80478010 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:80478010C>T uc002kfn.2 + 1 417 c.246C>T c.(244-246)ATC>ATT p.I82I FOXK2_uc002kfm.1_Silent_p.I82I|FOXK2_uc010diu.2_Silent_p.I82I NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 82 FHA.|Gly-rich. AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) ACCTCGAGATCTTCAcgcccc 0.383 NaN 0 0 0 0.012213 0 27 20 ST8SIA5 29906 broad.mit.edu 37 18 44260398 44260398 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:44260398C>T uc002lcj.1 - 7 1306 c.738G>A c.(736-738)CTG>CTA p.L246L ST8SIA5_uc002lci.1_Silent_p.L93L|ST8SIA5_uc010xcy.1_Silent_p.L282L|ST8SIA5_uc010xcz.1_Silent_p.L215L NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 246 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 AGAAGGCAGGCAGCAGCACCG 0.607 NaN 0 0 0 0.00308 0 7 15 ZBTB7C 201501 broad.mit.edu 37 18 45556270 45556270 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:45556270C>T uc002lda.2 - 2 1237 c.1221G>A c.(1219-1221)CTG>CTA p.L407L ZBTB7C_uc002ldb.2_Silent_p.L407L|ZBTB7C_uc010dnu.2_Silent_p.L416L|ZBTB7C_uc010dnv.2_Silent_p.L429L|ZBTB7C_uc010dnw.2_Silent_p.L407L NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 407 C2H2-type 2. intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TGTGGATTTTCAGCTTGTCCT 0.577 NaN 0 0 0 0.00245 0 14 40 KIAA1468 57614 broad.mit.edu 37 18 59954630 59954630 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:59954630G>A uc002lil.2 + 26 3515 c.3300G>A c.(3298-3300)CAG>CAA p.Q1100Q KIAA1468_uc010xel.1_Silent_p.Q1100Q|KIAA1468_uc002lim.2_Silent_p.Q778Q NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 1100 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) ACAACTTACAGATTGTGGATT 0.348 NaN 0 0 0 0.011902 0 39 24 NETO1 81832 broad.mit.edu 37 18 70417577 70417577 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:70417577G>A uc002lkw.2 - 9 1545 c.1261C>T c.(1261-1263)CGG>TGG p.R421W NETO1_uc002lkx.1_Missense_Mutation_p.R420W|NETO1_uc002lky.1_Missense_Mutation_p.R421W NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 421 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GATGACCTCCGCAGTTTATGG 0.458 NaN 0 0 0 0.008871 0 16 9 CELF5 60680 broad.mit.edu 37 19 3275921 3275921 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:3275921C>G uc002lxm.2 + 4 499 c.462C>G c.(460-462)TTC>TTG p.F154L CELF5_uc002lxl.1_Missense_Mutation_p.F154L|CELF5_uc010dtj.1_Missense_Mutation_p.F154L|CELF5_uc010xhg.1_Missense_Mutation_p.F40L|CELF5_uc002lxn.2_RNA NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 154 RRM 2. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 TGCGGCTGTTCCAGCCCTTCG 0.552 NaN 0 0 0 0.01441 0 37 27 ZFR2 23217 broad.mit.edu 37 19 3816707 3816707 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:3816707G>A uc002lyw.2 - 13 2080 c.2068C>T c.(2068-2070)CGG>TGG p.R690W NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 690 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GCGATCCTCCGCAGCAGGCTG 0.687 NaN 0 0 0 0.009096 0 3 35 ITGB1BP3 27231 broad.mit.edu 37 19 3938612 3938612 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:3938612C>T uc002lyz.3 + 5 468 c.178C>T c.(178-180)CTG>TTG p.L60L ITGB1BP3_uc010xia.1_Silent_p.L65L NM_170678 NP_733778 Q9NPI5 NRK2_HUMAN integrin beta 1 binding protein 3 60 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGAGTCTCTGGACATGGA 0.682 NaN 0 0 0 0.006122 0 15 22 SNAPC2 6618 broad.mit.edu 37 19 7986331 7986331 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:7986331C>G uc002miw.1 + 2 230 c.207C>G c.(205-207)CTC>CTG p.L69L SNAPC2_uc002mix.1_RNA NM_003083 NP_003074 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, 69 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity 0 TCCAGCAGCTCAAGGGCCGCG 0.622 NaN 0 0 0 0.003755 0 27 38 ADAMTS10 81794 broad.mit.edu 37 19 8665898 8665898 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:8665898C>G uc002mkj.1 - 6 998 c.724G>C c.(724-726)GAG>CAG p.E242Q ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 242 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 ACCAGGGTCTCCACGTAGCGC 0.622 NaN 0 0 0 0.01441 0 45 60 MUC16 94025 broad.mit.edu 37 19 9082528 9082528 + Nonsense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9082528G>T uc002mkp.2 - 1 9491 c.9287C>A c.(9286-9288)TCA>TAA p.S3096* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3097 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTCTGGCTTGAGGTTAACTC 0.478 NaN 1 0 4.03479e-65 0.01441 4.44007e-65 82 73 MUC16 94025 broad.mit.edu 37 19 9082810 9082810 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9082810G>A uc002mkp.2 - 1 9209 c.9005C>T c.(9004-9006)TCA>TTA p.S3002L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3003 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGTCATAGCTGATGATGCCTT 0.507 NaN 0 0 0 0.01441 0 50 55 MUC16 94025 broad.mit.edu 37 19 9083056 9083056 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9083056G>A uc002mkp.2 - 1 8963 c.8759C>T c.(8758-8760)TCA>TTA p.S2920L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2921 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTTGCATCTGAGTCTGGAAT 0.463 NaN 0 0 0 0.00333 0 22 17 ZNF559 84527 broad.mit.edu 37 19 9453579 9453579 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9453579G>T uc002mlg.2 + 7 2099 c.1452G>T c.(1450-1452)ATG>ATT p.M484I ZNF559_uc002mlf.2_Missense_Mutation_p.M253I|ZNF559_uc010dwl.1_Missense_Mutation_p.M253I|ZNF559_uc010xkn.1_Missense_Mutation_p.M476I|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.M548I|ZNF559_uc010dwk.1_Missense_Mutation_p.M253I|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 484 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAGTACACATGAGAACTCACA 0.433 NaN 1 0 4.3181e-19 0.013726 4.60784e-19 28 29 ZNF177 7730 broad.mit.edu 37 19 9492184 9492184 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9492184G>C uc002mli.2 + 12 1360 c.697G>C c.(697-699)GAG>CAG p.E233Q ZNF177_uc002mlj.2_Missense_Mutation_p.E183Q|ZNF177_uc002mlk.2_Missense_Mutation_p.E233Q NM_003451 NP_003442 Q13360 ZN177_HUMAN zinc finger protein 177 233 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCACACTGGAGAGAAGCCTTA 0.468 NaN 0 0 0 0.01441 0 55 101 ZNF846 162993 broad.mit.edu 37 19 9868234 9868234 + Nonsense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9868234C>A uc002mmb.1 - 6 2050 c.1519G>T c.(1519-1521)GAA>TAA p.E507* ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Nonsense_Mutation_p.E378* NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 507 C2H2-type 14; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCTTACATTCATATGGTTTT 0.393 NaN 1 0 3.39706e-21 0.01441 3.65666e-21 42 81 ZNF846 162993 broad.mit.edu 37 19 9868950 9868950 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9868950C>A uc002mmb.1 - 6 1334 c.803G>T c.(802-804)GGA>GTA p.G268V ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.G139V|ZNF846_uc002mmc.1_Missense_Mutation_p.G139V NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 268 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAATTTAAGTCCTGTGGATTG 0.388 NaN 1 0 9.65021e-13 0.010818 1.0144e-12 28 40 ZNF846 162993 broad.mit.edu 37 19 9869338 9869338 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9869338C>T uc002mmb.1 - 6 946 c.415G>A c.(415-417)GAG>AAG p.E139K ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.E10K|ZNF846_uc002mmc.1_Missense_Mutation_p.E10K NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN zinc finger protein 846 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GAAGTTTTCTCTCCAATGTGA 0.378 NaN 0 0 0 0.009535 0 27 47 DNMT1 1786 broad.mit.edu 37 19 10266565 10266565 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:10266565C>T uc002mng.2 - 18 1588 c.1408G>A c.(1408-1410)GAT>AAT p.D470N DNMT1_uc010xlc.1_Missense_Mutation_p.D486N|DNMT1_uc002mnh.2_Missense_Mutation_p.D365N|DNMT1_uc010xld.1_Missense_Mutation_p.D470N NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 470 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCACCTCCATCAAAGCCAGTG 0.502 NaN 0 0 0 0.001855 0 10 16 ATG4D 84971 broad.mit.edu 37 19 10663612 10663612 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:10663612G>A uc002mov.2 + 10 1414 c.1294G>A c.(1294-1296)GAG>AAG p.E432K ATG4D_uc010xlh.1_Missense_Mutation_p.E369K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.E99K NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 432 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CACCCTGGCCGAGGGCCATGC 0.662 NaN 0 0 0 0.01441 0 79 90 SMARCA4 6597 broad.mit.edu 37 19 11123777 11123777 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:11123777C>T uc002mqf.3 + 16 2711 c.2427C>T c.(2425-2427)ATC>ATT p.I809I SMARCA4_uc010dxp.2_Silent_p.I809I|SMARCA4_uc010dxo.2_Silent_p.I809I|SMARCA4_uc002mqg.1_Silent_p.I809I|SMARCA4_uc010dxq.2_Silent_p.I809I|SMARCA4_uc010dxr.2_Silent_p.I809I|SMARCA4_uc002mqj.3_Silent_p.I809I|SMARCA4_uc010dxs.2_Silent_p.I809I|SMARCA4_uc010dxt.1_Silent_p.I29I NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 809 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) TCCTCATCATCGTGCCTCTCT 0.483 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.003954 0 18 26 ACP5 54 broad.mit.edu 37 19 11687649 11687649 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:11687649C>G uc002msg.3 - 3 417 c.271G>C c.(271-273)GAG>CAG p.E91Q ACP5_uc002msh.3_Missense_Mutation_p.E91Q|ACP5_uc002msi.3_Missense_Mutation_p.E91Q|ACP5_uc002msj.3_Missense_Mutation_p.E91Q|ACP5_uc010dye.1_3'UTR NM_001611 NP_001602 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 91 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding central_nervous_system(1) 1 AATACGTCCTCAAAGGTCTCC 0.552 NaN 0 0 0 0.01441 0 54 48 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba 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 0.001984 0 6 55 PRDX2 7001 broad.mit.edu 37 19 12911854 12911854 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:12911854G>C uc002mvd.2 - 3 283 c.133C>G c.(133-135)CTG>GTG p.L45V PRDX2_uc002mve.1_Missense_Mutation_p.L45V NM_005809 NP_005800 P32119 PRDX2_HUMAN peroxiredoxin 2 isoform a 45 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity 0 GTGAAGTCCAGAGGGTAGAAA 0.602 NaN 0 0 0 0.014323 0 20 25 IER2 9592 broad.mit.edu 37 19 13264409 13264409 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:13264409C>T uc002mwr.2 + 2 737 c.409C>T c.(409-411)CCG>TCG p.P137S NM_004907 NP_004898 Q9BTL4 IER2_HUMAN immediate early response 2 137 kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) TGGACTGGTCCCGAGCAAGAA 0.687 NaN OREG0025291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 2 CYP4F12 66002 broad.mit.edu 37 19 15806821 15806821 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:15806821C>T uc002nbl.2 + 10 1252 c.1191C>T c.(1189-1191)TTC>TTT p.F397F NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) CAGCTCCCTTCATCTCCCGAT 0.617 NaN 0 0 0 0.01441 0 48 64 CYP4F12 66002 broad.mit.edu 37 19 15807291 15807291 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:15807291C>G uc002nbl.2 + 12 1427 c.1366C>G c.(1366-1368)CTG>GTG p.L456V NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) GAGGTCACCTCTGGCTTTTAT 0.557 NaN 0 0 0 0.01441 0 63 99 CHERP 10523 broad.mit.edu 37 19 16631645 16631645 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:16631645C>G uc002nei.1 - 13 2267 c.2193G>C c.(2191-2193)AAG>AAC p.K731N MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_RNA|CHERP_uc010xpg.1_Missense_Mutation_p.K270N NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 731 Arg-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 ACCTGTTCCTCTTCTCCTGGC 0.592 NaN 0 0 0 0.010771 0 36 47 USHBP1 83878 broad.mit.edu 37 19 17362467 17362467 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:17362467C>T uc002nfs.1 - 12 1959 c.1846G>A c.(1846-1848)GAA>AAA p.E616K USHBP1_uc002nfr.1_Missense_Mutation_p.E242K|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E552K NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 616 Potential. PDZ domain binding ovary(1) 1 GCCACCTGTTCCAGCTCCCTG 0.607 NaN 0 0 0 0.01441 0 46 82 MAST3 23031 broad.mit.edu 37 19 18255941 18255941 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:18255941G>T uc002nhz.3 + 23 2854 c.2854G>T c.(2854-2856)GTT>TTT p.V952F NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 952 PDZ. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.S952L(1) large_intestine(2)|ovary(2)|stomach(1) 5 GCCCCCCATCGTTATCCACAG 0.652 NaN 1 0 2.76863e-45 0.01441 3.03319e-45 74 105 ZNF626 199777 broad.mit.edu 37 19 20808090 20808090 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:20808090C>T uc002npb.1 - 4 743 c.593G>A c.(592-594)GGG>GAG p.G198E ZNF626_uc002npc.1_Missense_Mutation_p.G122E NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GTAGGGTTTCCCTCCAGTATG 0.363 NaN 0 0 0 0.009096 0 3 44 ZNF43 7594 broad.mit.edu 37 19 21990730 21990730 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:21990730C>T uc002nqj.2 - 4 2239 c.2109G>A c.(2107-2109)GAG>GAA p.E703E ZNF43_uc010ecv.2_Silent_p.E697E|ZNF43_uc002nql.2_Silent_p.E697E|ZNF43_uc002nqm.2_Silent_p.E697E|ZNF43_uc002nqk.2_Silent_p.E633E NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 703 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TGTAGGGTTTCTCTCCAGTAT 0.363 NaN 0 0 0 0.014323 0 20 24 U2AF1L4 199746 broad.mit.edu 37 19 36233667 36233667 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:36233667C>G uc002obg.2 - 8 822 c.513G>C c.(511-513)GAG>GAC p.E171D TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_3'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.E167Q|U2AF1L4_uc002obf.2_Missense_Mutation_p.E147D|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank Q8WU68 U2AF4_HUMAN Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650. Error:Variant_position_missing_in_Q8WU68_after_alignment mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGTTCCTCTCTCGGGGATGG 0.602 NaN 0 0 0 0.01441 0 46 74 CEACAM8 1088 broad.mit.edu 37 19 43097723 43097723 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:43097723C>T uc002oud.2 - 2 496 c.394G>A c.(394-396)GAA>AAA p.E132K uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 132 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) GTTACTTCTTCACTCATAAGA 0.483 NaN 0 0 0 0.00623 0 39 80 CEACAM8 1088 broad.mit.edu 37 19 43097727 43097727 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:43097727C>A uc002oud.2 - 2 492 c.390G>T c.(388-390)ATG>ATT p.M130I uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 130 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) CTTCTTCACTCATAAGATTTA 0.473 NaN 1 0 1.22674e-20 0.00874 1.31475e-20 43 85 ZNF224 7767 broad.mit.edu 37 19 44612276 44612276 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:44612276G>A uc002oyh.1 + 6 2265 c.1963G>A c.(1963-1965)GAG>AAG p.E655K uc002oyi.2_RNA NM_013398 NP_037530 Q9NZL3 ZN224_HUMAN zinc finger protein 224 655 C2H2-type 17. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) ATACAAATGTGAGGACTGTGG 0.433 NaN 0 0 0 0.013114 0 36 59 PVRL2 5819 broad.mit.edu 37 19 45375333 45375333 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:45375333C>T uc002ozw.1 + 3 1092 c.702C>T c.(700-702)GTC>GTT p.V234V PVRL2_uc002ozv.2_Silent_p.V234V NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 234 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CAGATGGTGTCACGGTCACCT 0.607 NaN 0 0 0 0.01441 0 43 49 PVRL2 5819 broad.mit.edu 37 19 45375398 45375398 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:45375398C>G uc002ozw.1 + 3 1157 c.767C>G c.(766-768)TCT>TGT p.S256C PVRL2_uc002ozv.2_Missense_Mutation_p.S256C NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 256 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) GTGACCCTCTCTGTACGCTGT 0.547 NaN 0 0 0 0.01441 0 65 67 PPP1R13L 10848 broad.mit.edu 37 19 45899848 45899848 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:45899848G>A uc002pbn.2 - 4 744 c.667C>T c.(667-669)CTA>TTA p.L223L PPP1R13L_uc002pbo.2_Silent_p.L223L|PPP1R13L_uc002pbp.2_Silent_p.L223L NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 223 Pro-rich. L -> I (in Ref. 3; AAW51146). apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCGGAGCCTAGCAGGGAGCTC 0.756 NaN 0 0 0 0.00245 0 13 9 SYMPK 8189 broad.mit.edu 37 19 46328437 46328437 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:46328437C>T uc002pdn.2 - 18 2727 c.2482G>A c.(2482-2484)GAG>AAG p.E828K SYMPK_uc002pdo.1_Missense_Mutation_p.E828K|SYMPK_uc002pdp.1_Missense_Mutation_p.E828K NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 828 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) ACCGGCTGCTCAATGACCCTC 0.652 NaN 0 0 0 0.01441 0 56 68 ZC3H4 23211 broad.mit.edu 37 19 47597706 47597706 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:47597706C>T uc002pga.3 - 3 359 c.321G>A c.(319-321)CGG>CGA p.R107R ZC3H4_uc002pgb.1_RNA NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 107 Potential. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCTCTTTCTTCCGTTTCCGCT 0.537 NaN 0 0 0 0.01441 0 124 212 HRC 3270 broad.mit.edu 37 19 49657096 49657096 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:49657096C>G uc002pmv.2 - 1 1586 c.1399G>C c.(1399-1401)GGA>CGA p.G467R NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 467 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) ACTGTGTGTCCTGGGGGGTGA 0.547 NaN 0 0 0 0.00874 0 33 58 TEAD2 8463 broad.mit.edu 37 19 49852054 49852054 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:49852054G>C uc002pnj.2 - 8 732 c.641C>G c.(640-642)TCG>TGG p.S214W TEAD2_uc002png.2_Missense_Mutation_p.S217W|TEAD2_uc002pnh.2_Missense_Mutation_p.S218W|TEAD2_uc002pni.2_Missense_Mutation_p.S217W|TEAD2_uc010yao.1_Missense_Mutation_p.S86W|TEAD2_uc010emw.2_Missense_Mutation_p.S217W NM_003598 NP_003589 Q15562 TEAD2_HUMAN TEA domain family member 2 214 Transcriptional activation (Potential).|Pro-rich. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GGCTGGGGGCGATGGGGTAGG 0.572 NaN 0 0 0 0.010729 0 11 7 SPIB 6689 broad.mit.edu 37 19 50926888 50926888 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:50926888G>A uc002psd.2 + 5 391 c.366G>A c.(364-366)CCG>CCA p.P122P SPIB_uc002pse.2_Silent_p.P122P|SPIB_uc010ycc.1_Silent_p.P31P NM_003121 NP_003112 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 122 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding lung(1)|kidney(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CATATGCCCCGTACCCCAGCC 0.647 NaN 0 0 0 0.009535 0 22 29 KLK8 11202 broad.mit.edu 37 19 51503318 51503318 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:51503318C>T uc002pur.1 - 4 606 c.427G>A c.(427-429)GAT>AAT p.D143N KLK8_uc002puq.1_Missense_Mutation_p.D188N|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.D143N|KLK9_uc002puv.1_Intron NM_007196 NP_009127 O60259 KLK8_HUMAN kallikrein 8 isoform 1 preproprotein 143 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GTGCAATGATCTGCCAGGCTG 0.587 NaN 0 0 0 0.004007 0 16 23 ZNF600 162966 broad.mit.edu 37 19 53269283 53269283 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:53269283G>A uc002qab.3 - 3 2012 c.1726C>T c.(1726-1728)CAT>TAT p.H576Y NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 576 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TCTCCAGTATGAAGTCTACGA 0.438 NaN 0 0 0 0.01441 0 113 117 ZNF320 162967 broad.mit.edu 37 19 53384365 53384365 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:53384365G>A uc002qag.2 - 4 1205 c.1014C>T c.(1012-1014)TTC>TTT p.F338F ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.F284F|ZNF320_uc002qai.2_Silent_p.F338F NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 338 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) ATTTGCGACTGAAAACTTTGT 0.423 NaN 0 0 0 0.005524 0 36 36 NLRP12 91662 broad.mit.edu 37 19 54313767 54313767 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:54313767C>T uc002qch.3 - 3 1366 c.1146G>A c.(1144-1146)GAG>GAA p.E382E NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.E382E|NLRP12_uc002qcj.3_Silent_p.E382E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.E382E NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 382 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGCCCGCCTGCTCTGCATTGT 0.562 NaN 0 0 0 0.01441 0 104 184 KIR3DP1 768329 broad.mit.edu 37 19 55267599 55267599 + Missense_Mutation SNP A A C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:55267599A>C uc010yfi.1 + 2 69 c.68A>C c.(67-69)GAG>GCG p.E23A KIR2DS4_uc010yfj.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron NM_001015070 NP_001015070 killer-cell Ig-like receptor 0 GBM - Glioblastoma multiforme(193;0.0192) TGGCCACATGAGGGTGAGTCC 0.532 NaN 0 0 0 0.00278 0 15 129 NLRP2 55655 broad.mit.edu 37 19 55494122 55494122 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:55494122C>G uc002qij.2 + 6 1142 c.1056C>G c.(1054-1056)ATC>ATG p.I352M NLRP2_uc010yfp.1_Missense_Mutation_p.I329M|NLRP2_uc010esn.2_Missense_Mutation_p.I328M|NLRP2_uc010eso.2_Missense_Mutation_p.I349M|NLRP2_uc010esp.2_Missense_Mutation_p.I330M NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 352 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGGAGCCGATCTACATAAGGG 0.607 NaN 0 0 0 0.010729 0 10 13 C19orf51 352909 broad.mit.edu 37 19 55673126 55673126 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:55673126G>A uc002qji.1 - 6 582 c.548C>T c.(547-549)GCG>GTG p.A183V C19orf51_uc002qjh.1_5'UTR|C19orf51_uc002qjj.1_Missense_Mutation_p.A230V|C19orf51_uc002qjk.1_Missense_Mutation_p.A129V|C19orf51_uc002qjl.1_Missense_Mutation_p.A251V Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 183 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CATGGGGAACGCCTGGGGCCC 0.711 NaN 0 0 0 0.000602 0 4 1 LAPTM4A 9741 broad.mit.edu 37 2 20240714 20240714 + Missense_Mutation SNP A A T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:20240714A>T uc002rdm.2 - 2 678 c.170T>A c.(169-171)ATG>AAG p.M57K LAPTM4A_uc002rdn.2_Missense_Mutation_p.M15K|LAPTM4A_uc010yjx.1_Missense_Mutation_p.M57K NM_014713 NP_055528 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 57 transport endomembrane system|Golgi apparatus|integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACAGCTGGCATGGAGTTTGG 0.373 NaN 0 0 0 0.008291 0 8 134 ADCY3 109 broad.mit.edu 37 2 25044461 25044461 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:25044461C>T uc002rfs.3 - 19 3251 c.3052G>A c.(3052-3054)GAC>AAC p.D1018N ADCY3_uc002rfr.3_Missense_Mutation_p.D605N|ADCY3_uc010ykm.1_Missense_Mutation_p.D1019N NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 1018 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) AGCGCGAAGTCGGCCAGGTCA 0.612 NaN 0 0 0 0.01441 0 60 192 CAD 790 broad.mit.edu 37 2 27465812 27465812 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:27465812C>T uc002rji.2 + 42 6613 c.6451C>T c.(6451-6453)CGA>TGA p.R2151* CAD_uc010eyw.2_Nonsense_Mutation_p.R2088* NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 2151 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCAGAAGGAACGATTTGGCTC 0.552 NaN 0 0 0 0.010504 0 14 42 GPN1 11321 broad.mit.edu 37 2 27858051 27858051 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:27858051G>A uc010ymc.1 + 7 537 c.516G>A c.(514-516)TCG>TCA p.S172S ZNF512_uc010yly.1_RNA|GPN1_uc010ezf.2_Silent_p.S146S|GPN1_uc010yma.1_Silent_p.S79S|GPN1_uc010ymb.1_Silent_p.S63S|GPN1_uc010ymd.1_Silent_p.S53S|GPN1_uc010yme.1_Silent_p.S172S|GPN1_uc010ezg.1_Silent_p.S53S NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 158 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 TGGACACATCGAGAAGTACCA 0.443 NaN 0 0 0 0.01441 0 65 44 CYP1B1 1545 broad.mit.edu 37 2 38298398 38298398 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:38298398C>A uc002rqo.2 - 4 1502 c.1099G>T c.(1099-1101)GAC>TAC p.D367Y NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 367 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) GGCAGACGGTCCCTCCCCACG 0.517 NaN 1 0 3.4345e-17 0.011902 3.64915e-17 35 22 SPTBN1 6711 broad.mit.edu 37 2 54880916 54880916 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:54880916C>T uc002rxu.2 + 27 5997 c.5748C>T c.(5746-5748)TTC>TTT p.F1916F SPTBN1_uc002rxx.2_Silent_p.F1903F|SPTBN1_uc002rxy.2_Silent_p.F61F NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1916 Spectrin 16.|Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AGTTCCGCTTCTTCAGCATGG 0.597 NaN 0 0 0 0.00632 0 24 13 SPTBN1 6711 broad.mit.edu 37 2 54882218 54882218 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:54882218C>G uc002rxu.2 + 28 6083 c.5834C>G c.(5833-5835)TCT>TGT p.S1945C SPTBN1_uc002rxx.2_Missense_Mutation_p.S1932C|SPTBN1_uc002rxy.2_Missense_Mutation_p.S90C|SPTBN1_uc010you.1_5'Flank NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1945 Spectrin 16.|Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GATGTATCATCTGTTGAACTC 0.348 NaN 0 0 0 0.008291 0 10 11 USP34 9736 broad.mit.edu 37 2 61575533 61575533 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:61575533C>G uc002sbe.2 - 15 1779 c.1757G>C c.(1756-1758)AGT>ACT p.S586T NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 586 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) AGATCCATCACTATGCCCACT 0.483 NaN 0 0 0 0.009096 0 3 196 ST3GAL5 8869 broad.mit.edu 37 2 86090557 86090557 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:86090557G>A uc002sqq.1 - 2 263 c.134C>T c.(133-135)CCT>CTT p.P45L ST3GAL5_uc010ysy.1_Missense_Mutation_p.P45L|ST3GAL5_uc010ysz.1_Missense_Mutation_p.P45L|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Missense_Mutation_p.P22L NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 45 Cytoplasmic (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 TTGCAGGGAAGGCCTCGAGCA 0.498 NaN 0 0 0 0.004007 0 15 52 VWA3B 200403 broad.mit.edu 37 2 98810866 98810866 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:98810866G>C uc002syo.2 + 12 1912 c.1648G>C c.(1648-1650)GAT>CAT p.D550H VWA3B_uc010yvh.1_Missense_Mutation_p.D400H|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.D69H|VWA3B_uc002sym.2_Missense_Mutation_p.D550H|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.D207H|VWA3B_uc002syp.1_5'UTR NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 550 VWFA. ovary(3)|large_intestine(2)|skin(1) 6 TGTGAAGTTTGATGGTCAAGC 0.373 NaN 0 0 0 0.01441 0 78 57 C2orf15 150590 broad.mit.edu 37 2 99767109 99767109 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:99767109G>A uc002szk.2 + 4 589 c.190G>A c.(190-192)GAA>AAA p.E64K TSGA10_uc002szi.3_Intron|MRPL30_uc002szl.1_Intron NM_144706 NP_653307 Q8WU43 CB015_HUMAN hypothetical protein LOC150590 64 0 ACGAGGGACTGAAAAAAGCAG 0.363 NaN 0 0 0 0.003163 0 12 14 PTPN4 5775 broad.mit.edu 37 2 120712877 120712877 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:120712877G>C uc002tmf.1 + 20 2729 c.1958G>C c.(1957-1959)GGA>GCA p.G653A PTPN4_uc010flj.1_Missense_Mutation_p.G366A|PTPN4_uc010yyr.1_Missense_Mutation_p.G286A NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 653 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) CTTATCACTGGAACAGTCCTG 0.398 NaN 0 0 0 0.003954 0 17 23 CYP27C1 339761 broad.mit.edu 37 2 127951379 127951379 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:127951379G>C uc002tod.2 - 6 915 c.784C>G c.(784-786)CTG>GTG p.L262V NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, 262 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) TTCGGAATCAGATACCCGCCA 0.597 NaN 0 0 0 0.004656 0 26 24 LRP1B 53353 broad.mit.edu 37 2 141128300 141128300 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:141128300C>T uc002tvj.1 - 71 11959 c.10987G>A c.(10987-10989)GAT>AAT p.D3663N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3663 Extracellular (Potential).|LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCTCTTCATCACTGCCATCC 0.398 NaN TSP Lung(27;0.18) 0 0 0 0.01441 0 118 102 ACVR2A 92 broad.mit.edu 37 2 148653908 148653908 + Missense_Mutation SNP T T G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:148653908T>G uc002twg.2 + 3 363 c.94T>G c.(94-96)TTC>GTC p.F32V ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.F32V NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 32 Extracellular (Potential). activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) GGAGTGTCTTTTCTTTAATGC 0.348 NaN 0 0 0 0.01441 0 34 22 NEB 4703 broad.mit.edu 37 2 152397312 152397312 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:152397312G>C uc010fnx.2 - 109 15774 c.15583C>G c.(15583-15585)CTG>GTG p.L5195V NEB_uc002txr.2_Missense_Mutation_p.L1618V NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5195 Nebulin 141. 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) TCAACATACAGATACTGAATA 0.418 NaN 0 0 0 0.004007 0 15 24 MYO3B 140469 broad.mit.edu 37 2 171070928 171070928 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:171070928C>G uc002ufy.2 + 4 504 c.361C>G c.(361-363)CTA>GTA p.L121V MYO3B_uc002ufv.2_Missense_Mutation_p.L108V|MYO3B_uc010fqb.1_Missense_Mutation_p.L108V|MYO3B_uc002ufz.2_Missense_Mutation_p.L121V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.L108V NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 121 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 TGTCAAAGGTCTACTCAGATG 0.483 NaN 0 0 0 0.01441 0 46 48 ITGA6 3655 broad.mit.edu 37 2 173352763 173352763 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:173352763C>T uc002uhp.1 + 18 2602 c.2399C>T c.(2398-2400)TCG>TTG p.S800L ITGA6_uc010zdy.1_Missense_Mutation_p.S681L|ITGA6_uc002uho.1_Missense_Mutation_p.S800L|ITGA6_uc010fqm.1_Missense_Mutation_p.S446L NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 839 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TTATCGGTCTCGGGGTAAGTG 0.333 NaN 0 0 0 0.006999 0 33 99 PLEKHA3 65977 broad.mit.edu 37 2 179358588 179358588 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:179358588G>A uc002umn.2 + 4 720 c.322G>A c.(322-324)GAA>AAA p.E108K NM_019091 NP_061964 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A 108 cytoplasm|membrane ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) AGAAATAAGTGAAACCAGTGA 0.308 NaN 0 0 0 0.004482 0 6 24 BMPR2 659 broad.mit.edu 37 2 203397422 203397422 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:203397422G>C uc002uzf.3 + 9 2391 c.1243G>C c.(1243-1245)GAG>CAG p.E415Q BMPR2_uc010ftr.2_Missense_Mutation_p.E415Q NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 415 Protein kinase.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 AATCTATTGGGAGATATTTAT 0.373 NaN 0 0 0 0.007291 0 23 19 IKZF2 22807 broad.mit.edu 37 2 213914495 213914495 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:213914495G>T uc002vem.2 - 5 685 c.516C>A c.(514-516)TTC>TTA p.F172L IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.F119L|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.F146L|IKZF2_uc002vel.2_Missense_Mutation_p.F93L|IKZF2_uc010fuw.2_Translation_Start_Site|IKZF2_uc010fux.2_Translation_Start_Site|IKZF2_uc010fuy.2_Missense_Mutation_p.F146L|IKZF2_uc002ven.2_Missense_Mutation_p.F146L NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 172 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CGTAGCTACAGAAAGGACATT 0.473 NaN 1 0 2.41591e-17 0.004656 2.57245e-17 23 37 NHEJ1 79840 broad.mit.edu 37 2 220022246 220022246 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:220022246G>C uc002vjp.3 - 3 484 c.338C>G c.(337-339)TCT>TGT p.S113C NHEJ1_uc002vjq.3_RNA NM_024782 NP_079058 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 113 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding lung(1) 1 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) GGGGAGGCCAGAGAGCTCACT 0.527 NaN Direct_reversal_of_damage|NHEJ 0 0 0 0.005524 0 32 33 C2orf24 27013 broad.mit.edu 37 2 220041503 220041503 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:220041503G>A uc002vju.3 - 1 200 c.48C>T c.(46-48)CTC>CTT p.L16L C2orf24_uc002vjv.2_Silent_p.L16L|FAM134A_uc002vjw.3_5'Flank|FAM134A_uc010fwc.2_5'Flank NM_015680 NP_056495 Q9BV87 CNPD1_HUMAN hypothetical protein LOC27013 16 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding 0 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAAGCCGGCGAGGGAGAAGG 0.711 NaN 0 0 0 0.001984 0 4 3 STK11IP 114790 broad.mit.edu 37 2 220470931 220470931 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:220470931G>C uc002vml.2 + 10 940 c.897G>C c.(895-897)GGG>GGC p.G299G STK11IP_uc010zlk.1_Silent_p.G288G|STK11IP_uc010zll.1_Intron|STK11IP_uc002vmm.1_Silent_p.G288G NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 299 LRR 8. protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCTGGAGGGGAACCCTCTTT 0.632 NaN OREG0003992 type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.004672 0 2 6 CCDC140 151278 broad.mit.edu 37 2 223169071 223169071 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:223169071G>C uc002vnb.1 + 2 834 c.450G>C c.(448-450)AAG>AAC p.K150N NM_153038 NP_694583 Q96MF4 CC140_HUMAN coiled-coil domain containing 140 150 Potential. 0 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) aagagagaaagagaagaaaag 0.398 NaN 0 0 0 0.000602 0 5 2 TRIP12 9320 broad.mit.edu 37 2 230661454 230661454 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:230661454G>A uc002vpw.1 - 24 3553 c.3444C>T c.(3442-3444)GTC>GTT p.V1148V TRIP12_uc002vpx.1_Silent_p.V1196V|TRIP12_uc002vpy.1_Silent_p.V878V|TRIP12_uc010zlz.1_RNA NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1148 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTGACTCTGAGACTATGCTAC 0.373 NaN 0 0 0 0.003954 0 19 43 RNPEPL1 57140 broad.mit.edu 37 2 241516112 241516112 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:241516112C>G uc002vzi.2 + 9 1571 c.978C>G c.(976-978)ATC>ATG p.I326M RNPEPL1_uc010fzf.2_Missense_Mutation_p.I232M|RNPEPL1_uc002vzj.2_Translation_Start_Site NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 326 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CCATTGACATCTCCAAGTGGA 0.672 NaN 0 0 0 0.01441 0 48 30 NSFL1C 55968 broad.mit.edu 37 20 1433191 1433191 + Silent SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:1433191C>A uc002wfc.2 - 7 1680 c.732G>T c.(730-732)GTG>GTT p.V244V NSFL1C_uc002wfd.2_Silent_p.V133V|NSFL1C_uc002wfe.2_Silent_p.V213V|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Silent_p.V10V NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN p47 protein isoform a 244 SEP. chromosome|Golgi stack|nucleus lipid binding|protein binding 0 CTTTGGGCTTCACAAAGTCCT 0.567 NaN 1 0 2.1089e-46 0.01441 2.31557e-46 79 84 TMC2 117532 broad.mit.edu 37 20 2582792 2582792 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:2582792G>C uc002wgf.1 + 11 1273 c.1258G>C c.(1258-1260)GAA>CAA p.E420Q TMC2_uc002wgg.1_Missense_Mutation_p.E404Q|TMC2_uc010zpw.1_Missense_Mutation_p.E252Q|TMC2_uc010zpx.1_Missense_Mutation_p.E251Q NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 420 Cytoplasmic (Potential). integral to membrane ovary(3) 3 GAGTAACAAAGAAGAAAATAT 0.403 NaN 0 0 0 0.01441 0 40 32 TRMT6 51605 broad.mit.edu 37 20 5927104 5927104 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:5927104C>T uc002wmh.1 - 2 326 c.204G>A c.(202-204)GTG>GTA p.V68V TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA NM_015939 NP_057023 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 68 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity pancreas(1) 1 CTCCACTGGTCACTTCAAATG 0.418 NaN 0 0 0 0.003755 0 31 55 PAK7 57144 broad.mit.edu 37 20 9520184 9520184 + Silent SNP G G A rs141553527 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:9520184G>A uc002wnl.2 - 11 2630 c.2085C>T c.(2083-2085)CTC>CTT p.L695L PAK7_uc002wnk.2_Silent_p.L695L|PAK7_uc002wnj.2_Silent_p.L695L|PAK7_uc010gby.1_Silent_p.L608L NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 695 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) ATGGATGTCCGAGGAGTTCCT 0.512 NaN 0 0 0 0.01441 0 87 137 MKKS 8195 broad.mit.edu 37 20 10389350 10389350 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:10389350G>A uc002wnt.1 - 4 1974 c.1087C>T c.(1087-1089)CTT>TTT p.L363F MKKS_uc002wnu.1_Missense_Mutation_p.L363F|MKKS_uc010zrd.1_RNA NM_018848 NP_061336 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome protein 363 Substrate-binding apical domain. brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding 0 TTAGGAATAAGATGAAAAAAA 0.398 NaN Bardet-Biedl_syndrome 0 0 0 0.00278 0 23 32 GTSF1L 149699 broad.mit.edu 37 20 42354926 42354926 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:42354926C>G uc002xld.2 - 1 717 c.409G>C c.(409-411)GAG>CAG p.E137Q GTSF1L_uc002xlc.2_Missense_Mutation_p.E112Q NM_176791 NP_789761 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like isoform 1 137 metal ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGACTGGTCTCTCTTGCTGAC 0.368 NaN 0 0 0 0.01441 0 67 39 SLC35C2 51006 broad.mit.edu 37 20 44984459 44984459 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:44984459G>T uc002xro.2 - 5 931 c.390C>A c.(388-390)ATC>ATA p.I130I SLC35C2_uc002xrp.2_Silent_p.I130I|SLC35C2_uc002xrq.2_Silent_p.I130I|SLC35C2_uc002xrr.2_Silent_p.I130I|SLC35C2_uc010zxn.1_Silent_p.I16I|SLC35C2_uc010zxo.1_Silent_p.I16I|SLC35C2_uc010zxp.1_Silent_p.I159I NM_173179 NP_775271 Q9NQQ7 S35C2_HUMAN solute carrier family 35, member C2 isoform a 130 transport integral to membrane ovary(1) 1 Myeloproliferative disorder(115;0.0122) CCAGCTTGAAGATCAGAGAGA 0.517 NaN 1 0 2.29192e-23 0.01441 2.47246e-23 45 123 PREX1 57580 broad.mit.edu 37 20 47260976 47260976 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:47260976G>C uc002xtw.1 - 27 3595 c.3572C>G c.(3571-3573)TCC>TGC p.S1191C PREX1_uc002xtv.1_Missense_Mutation_p.S488C NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1191 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCCCAAGTAGGAGCTGTTACT 0.562 NaN 0 0 0 0.006999 0 30 24 STAU1 6780 broad.mit.edu 37 20 47736621 47736621 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:47736621C>G uc002xud.2 - 9 1422 c.1011G>C c.(1009-1011)AAG>AAC p.K337N STAU1_uc002xua.2_Missense_Mutation_p.K256N|STAU1_uc002xub.2_Missense_Mutation_p.K262N|STAU1_uc002xuc.2_Missense_Mutation_p.K256N|STAU1_uc002xue.2_Missense_Mutation_p.K256N|STAU1_uc002xuf.2_Missense_Mutation_p.K262N|STAU1_uc002xug.2_Missense_Mutation_p.K337N NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 337 DRBM 3. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TGGCCACCTTCTTGTTGGTGC 0.522 NaN 0 0 0 0.01441 0 41 19 MOCS3 27304 broad.mit.edu 37 20 49576100 49576100 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:49576100G>A uc002xvy.1 + 1 738 c.721G>A c.(721-723)GAC>AAC p.D241N DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 241 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 CAACTGCGCGGACGGCGGGGT 0.622 NaN 0 0 0 0.01441 0 64 173 ZFP64 55734 broad.mit.edu 37 20 50769825 50769825 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:50769825G>C uc002xwl.2 - 6 1255 c.906C>G c.(904-906)CTC>CTG p.L302L ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.L300L|ZFP64_uc002xwn.2_Silent_p.L248L NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 302 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGTGCGACTTGAGGTTCCCCT 0.557 NaN 0 0 0 0.01441 0 45 147 CTCFL 140690 broad.mit.edu 37 20 56090809 56090809 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:56090809C>G uc010gix.1 - 5 1803 c.1141G>C c.(1141-1143)GAT>CAT p.D381H CTCFL_uc010giw.1_Missense_Mutation_p.D381H|CTCFL_uc002xym.2_Missense_Mutation_p.D381H|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.D381H|CTCFL_uc010gjb.1_Missense_Mutation_p.D381H|CTCFL_uc010gjc.1_Missense_Mutation_p.D381H|CTCFL_uc010gjd.1_Missense_Mutation_p.D381H|CTCFL_uc010gje.2_Missense_Mutation_p.D381H|CTCFL_uc010gjf.2_Missense_Mutation_p.D176H|CTCFL_uc010gjg.2_Missense_Mutation_p.D113H|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.D176H|CTCFL_uc010gjj.1_Missense_Mutation_p.D381H NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 381 C2H2-type 5. cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TTGTAGGTATCTCTGCTGGCA 0.478 NaN 0 0 0 0.01441 0 174 105 TAF4 6874 broad.mit.edu 37 20 60582637 60582637 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:60582637G>A uc002ybs.2 - 6 1940 c.1940C>T c.(1939-1941)TCT>TTT p.S647F NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 647 TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TTGAGGTGAAGAATTAAGTTC 0.458 NaN 0 0 0 0.01441 0 134 75 ARFGAP1 55738 broad.mit.edu 37 20 61910306 61910306 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:61910306G>C uc002yem.2 + 7 698 c.586G>C c.(586-588)GAA>CAA p.E196Q ARFGAP1_uc011aas.1_Missense_Mutation_p.E143Q|ARFGAP1_uc011aat.1_Missense_Mutation_p.E83Q|ARFGAP1_uc002yel.2_Missense_Mutation_p.E196Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.E196Q NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 196 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) TCAGAAGAAAGAAGATGACTT 0.597 NaN 0 0 0 0.01441 0 63 23 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + Silent SNP G G A rs8130203 by1000genomes TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:11058248G>A uc002yit.1 - 3 400 c.192C>T c.(190-192)ATC>ATT p.I64I BAGE_uc002yiw.1_RNA NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 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) GCAGCACAAGGATAATGATAC 0.433 NaN 0 0 0 0.000602 0 4 133 MX2 4600 broad.mit.edu 37 21 42752066 42752066 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:42752066G>C uc002yzf.1 + 4 669 c.565G>C c.(565-567)GAG>CAG p.E189Q MX2_uc011aer.1_Intron NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 189 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) GGTGGAGAAAGAGATACACAA 0.577 NaN 0 0 0 0.00874 0 33 9 RRP1B 23076 broad.mit.edu 37 21 45093792 45093792 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:45093792G>A uc002zdk.2 + 4 427 c.313G>A c.(313-315)GAA>AAA p.E105K NM_015056 NP_055871 Q14684 RRP1B_HUMAN ribosomal RNA processing 1 homolog B 105 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.178) CATGAATCGAGAATGGAAAGG 0.408 NaN 0 0 0 0.013114 0 40 6 KRTAP10-7 386675 broad.mit.edu 37 21 46020560 46020560 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:46020560G>A uc002zfn.3 + 1 64 c.39G>A c.(37-39)CTG>CTA p.L13L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 13 keratin filament 0 CCAGCGACCTGAGCTACGGCA 0.537 NaN 0 0 0 0.012213 0 24 31 COL6A1 1291 broad.mit.edu 37 21 47419594 47419594 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:47419594G>A uc002zhu.1 + 27 1866 c.1764G>A c.(1762-1764)CCG>CCA p.P588P COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'Flank|COL6A1_uc002zhw.1_5'Flank NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 588 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) ACCAAGGACCGCCTGGGCCGG 0.632 NaN 0 0 0 0.010504 0 17 17 PCNT 5116 broad.mit.edu 37 21 47855826 47855826 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:47855826G>A uc002zji.3 + 39 8868 c.8761G>A c.(8761-8763)GAA>AAA p.E2921K PCNT_uc002zjj.2_Missense_Mutation_p.E2724K NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2921 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GCGAGAATTAGAACTGCAGCG 0.433 NaN 0 0 0 0.012319 0 20 38 TUBA8 51807 broad.mit.edu 37 22 18561373 18561373 + Splice_Site SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:18561373G>C uc002znr.2 + 1 687 c.-336_splice c.e1+1 PEX26_uc002znp.3_Splice_Site_p.T77_splice|PEX26_uc002znq.3_Splice_Site_p.T77_splice|uc002zns.2_Nonsense_Mutation_p.Y50*|PEX26_uc002znt.2_Splice_Site_p.T77_splice NM_018943 NP_061816 Q9NY65 TBA8_HUMAN tubulin, alpha 8 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 CCGCGGGCACGTACGTGCTGG 0.647 NaN 0 0 0 0.001168 0 5 7 SEPT5 5413 broad.mit.edu 37 22 19709361 19709361 + Silent SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:19709361T>C uc002zpv.1 + 10 956 c.831T>C c.(829-831)CAT>CAC p.H277H SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank NM_002688 NP_002679 Q99719 SEPT5_HUMAN septin 5 277 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1) 1 Colorectal(54;0.0993) ACCAGGCGCATTGCGACTTCG 0.632 NaN 0 0 0 0.001984 0 7 62 ARVCF 421 broad.mit.edu 37 22 19961739 19961739 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:19961739C>T uc002zqz.2 - 12 2255 c.1984G>A c.(1984-1986)GAG>AAG p.E662K ARVCF_uc002zqy.2_Missense_Mutation_p.E178K NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 662 ARM 7. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) CGTACCACCTCGGGCTGGTAC 0.632 NaN 0 0 0 0.006122 0 15 16 SERPIND1 3053 broad.mit.edu 37 22 21133814 21133814 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:21133814G>C uc002ztb.1 + 2 281 c.214G>C c.(214-216)GAG>CAG p.E72Q PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E100Q NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 72 Chemotactic activity. blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGATTCCAGAGGGGGAGGA 0.517 NaN 0 0 0 0.007291 0 23 42 GAL3ST1 9514 broad.mit.edu 37 22 30950948 30950948 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:30950948G>A uc003aig.1 - 4 1404 c.1264C>T c.(1264-1266)CGG>TGG p.R422W GAL3ST1_uc003aih.1_Missense_Mutation_p.R422W|GAL3ST1_uc003aii.1_Missense_Mutation_p.R422W|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R422W NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 422 Lumenal (Potential). R -> E (in Ref. 1; AA sequence). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 CGTCACCACCGCAGGAAATCG 0.687 NaN 0 0 0 0.009096 0 3 22 EIF3L 51386 broad.mit.edu 37 22 38245481 38245481 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:38245481G>A uc003auf.2 + 1 112 c.25G>A c.(25-27)GAG>AAG p.E9K EIF3L_uc003aue.1_Missense_Mutation_p.E9K|EIF3L_uc011ann.1_Missense_Mutation_p.E9K|EIF3L_uc003aug.2_5'Flank|MIR659_hsa-mir-659|MI0003683_5'Flank NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 9 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 TGATGATTATGAGTCTGAGGT 0.647 NaN 0 0 0 0.01441 0 100 150 SREBF2 6721 broad.mit.edu 37 22 42280950 42280950 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:42280950G>C uc003bbi.2 + 11 2312 c.2143G>C c.(2143-2145)GAG>CAG p.E715Q WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 715 Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 CACACTGGTTGAGATCCATCT 0.587 NaN 0 0 0 0.01441 0 41 56 MTMR14 64419 broad.mit.edu 37 3 9743604 9743604 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:9743604G>C uc003brz.2 + 19 2024 c.1900G>C c.(1900-1902)GAG>CAG p.E634Q MTMR14_uc003bsa.2_Missense_Mutation_p.E582Q|MTMR14_uc003bsb.2_Missense_Mutation_p.E522Q|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Missense_Mutation_p.E276Q|MTMR14_uc003bsc.2_RNA|CPNE9_uc003bsd.2_5'Flank NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN jumpy isoform 2 634 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(99;0.227) GGGCCTGCTGGAGCAATTTGC 0.617 NaN 0 0 0 0.01441 0 49 76 HRH1 3269 broad.mit.edu 37 3 11300932 11300932 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:11300932C>T uc010hdr.2 + 2 551 c.209C>T c.(208-210)TCG>TTG p.S70L HRH1_uc010hds.2_Missense_Mutation_p.S70L|HRH1_uc010hdt.2_Missense_Mutation_p.S70L|HRH1_uc003bwb.3_Missense_Mutation_p.S70L NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 70 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GTCAGCCTCTCGGTGGCGGAC 0.577 NaN 0 0 0 0.01441 0 43 45 NGLY1 55768 broad.mit.edu 37 3 25805630 25805630 + Nonsense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:25805630G>C uc003cdl.2 - 3 527 c.419C>G c.(418-420)TCA>TGA p.S140* NGLY1_uc010hfg.2_Nonsense_Mutation_p.S140*|NGLY1_uc003cdm.2_Nonsense_Mutation_p.S140*|NGLY1_uc011awo.1_Nonsense_Mutation_p.S98*|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 140 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 ACTGGGATTTGAAGATGGTGT 0.448 NaN 0 0 0 0.01441 0 47 55 KIF15 56992 broad.mit.edu 37 3 44835802 44835802 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:44835802G>C uc003cnx.3 + 8 882 c.733G>C c.(733-735)GAG>CAG p.E245Q KIF15_uc010hiq.2_Missense_Mutation_p.E148Q NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 245 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AATTACAATAGAGTCAATGGA 0.428 NaN 0 0 0 0.010771 0 40 66 SEMA3F 6405 broad.mit.edu 37 3 50222226 50222226 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:50222226G>A uc003cyj.2 + 13 1633 c.1435G>A c.(1435-1437)GAG>AAG p.E479K SEMA3F_uc003cyk.2_Missense_Mutation_p.E448K NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 479 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CGGGCGCTATGAGGTGCTTTT 0.682 NaN 0 0 0 0.006122 0 15 16 GLT8D1 55830 broad.mit.edu 37 3 52730304 52730304 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:52730304G>A uc003dfi.3 - 6 617 c.478C>T c.(478-480)CTG>TTG p.L160L GLT8D1_uc003dfj.2_Silent_p.L160L|GLT8D1_uc003dfk.2_Silent_p.L160L|GLT8D1_uc003dfl.2_Silent_p.L160L|GLT8D1_uc003dfm.2_Silent_p.L160L|GLT8D1_uc003dfn.2_Silent_p.L160L|GLT8D1_uc003dfo.1_Silent_p.L160L NM_152932 NP_690909 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 160 Lumenal (Potential). integral to membrane|mitochondrion transferase activity, transferring glycosyl groups 0 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CTGGGAACCAGAATTGGCAAG 0.418 NaN 0 0 0 0.009096 0 3 61 ACTR8 93973 broad.mit.edu 37 3 53908332 53908332 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:53908332C>T uc003dhd.2 - 8 1030 c.971G>A c.(970-972)CGA>CAA p.R324Q ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.R213Q NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 324 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) GAACCCAGCTCGCTGCATTAG 0.398 NaN 0 0 0 0.013726 0 29 28 PRICKLE2 166336 broad.mit.edu 37 3 64132939 64132939 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:64132939C>G uc003dmf.2 - 7 1813 c.1227G>C c.(1225-1227)CAG>CAC p.Q409H NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 409 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GGGTCTGGTTCTGCTCCATCT 0.612 NaN 0 0 0 0.01441 0 50 73 ROBO2 6092 broad.mit.edu 37 3 77623749 77623749 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:77623749G>T uc003dpy.3 + 14 2714 c.2071G>T c.(2071-2073)GTC>TTC p.V691F ROBO2_uc003dpz.2_Missense_Mutation_p.V695F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V695F NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 691 Fibronectin type-III 2.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGATGCCAAAGTCCCGACTGA 0.458 NaN 1 0 0.004672 0.004672 0.00475888 3 92 SENP7 57337 broad.mit.edu 37 3 101060619 101060619 + Nonsense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:101060619G>C uc003dut.2 - 15 2222 c.2111C>G c.(2110-2112)TCA>TGA p.S704* SENP7_uc003duu.2_Nonsense_Mutation_p.S639*|SENP7_uc003duv.2_Nonsense_Mutation_p.S671*|SENP7_uc003duw.2_Nonsense_Mutation_p.S638*|SENP7_uc003dux.2_Nonsense_Mutation_p.S540* NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 704 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 ATCTGTGTTTGAGGGCTGACA 0.418 NaN 0 0 0 0.007413 0 14 22 ATG3 64422 broad.mit.edu 37 3 112255401 112255401 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:112255401C>G uc003dzd.2 - 10 825 c.715G>C c.(715-717)GAT>CAT p.D239H ATG3_uc003dzc.2_Missense_Mutation_p.D239H|ATG3_uc010hqe.2_Missense_Mutation_p.D239H NM_022488 NP_071933 Q9NT62 ATG3_HUMAN Apg3p 239 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding ovary(3) 3 TTCACATGATCCTGACTGATG 0.368 NaN 0 0 0 0.003755 0 35 50 DIRC2 84925 broad.mit.edu 37 3 122552196 122552196 + Missense_Mutation SNP A A T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:122552196A>T uc003efw.3 + 4 875 c.736A>T c.(736-738)ACA>TCA p.T246S DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.T84S NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 246 Helical; (Potential). transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) ATTTTCTGCAACACTAGCTTA 0.393 NaN 0 0 0 0.003954 0 21 152 SEMA5B 54437 broad.mit.edu 37 3 122646670 122646670 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:122646670G>T uc003efz.1 - 8 1121 c.817C>A c.(817-819)CGC>AGC p.R273S SEMA5B_uc011bju.1_Missense_Mutation_p.R215S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R273S|SEMA5B_uc010hro.1_Missense_Mutation_p.R215S|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 273 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TGGGCAGTGCGAAGCGGTGGC 0.627 NaN 1 0 9.9191e-30 0.00874 1.08188e-29 30 38 RUVBL1 8607 broad.mit.edu 37 3 127842458 127842458 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:127842458G>A uc003ekh.2 - 1 214 c.110C>T c.(109-111)TCA>TTA p.S37L RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.S37L NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 37 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) CACAAGCCCTGAGGCCGCCTG 0.667 NaN 0 0 0 0.003954 0 22 17 CCDC48 79825 broad.mit.edu 37 3 128758636 128758636 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:128758636C>T uc011bkt.1 + 8 1742 c.1742C>T c.(1741-1743)TCG>TTG p.S581L NM_024768 NP_079044 Q9HA90 CCD48_HUMAN coiled-coil domain containing 48 581 0 AGACAGCCCTCGGCACCAGCC 0.667 NaN 0 0 0 0.01441 0 56 48 MRPS22 56945 broad.mit.edu 37 3 139062910 139062910 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:139062910G>C uc003etb.2 + 1 50 c.42G>C c.(40-42)TTG>TTC p.L14F MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.L14F|MRPS22_uc003ete.2_5'Flank NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 14 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 GGAGCCTCTTGAGGAGTTCTC 0.602 NaN 0 0 0 0.003954 0 20 30 ZBTB38 253461 broad.mit.edu 37 3 141162438 141162438 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:141162438G>C uc003etw.2 + 8 2190 c.1208G>C c.(1207-1209)GGA>GCA p.G403A ZBTB38_uc010hun.2_Missense_Mutation_p.G400A|ZBTB38_uc010huo.2_Missense_Mutation_p.G403A|ZBTB38_uc003ety.2_Missense_Mutation_p.G403A|ZBTB38_uc010hup.2_Missense_Mutation_p.G404A NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 403 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CCCATTCCTGGAGGAAACCAA 0.428 NaN 0 0 0 0.01441 0 47 51 C3orf57 165679 broad.mit.edu 37 3 161064103 161064103 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:161064103C>G uc003fee.2 - 3 783 c.9G>C c.(7-9)TTG>TTC p.L3F NM_001040100 NP_001035189 Q8NFR3 SSPTB_HUMAN ADMP 3 Cytoplasmic (Potential). sphingolipid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex protein binding 0 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TCACACGCCTCAAATCCATGG 0.403 NaN 0 0 0 0.008361 0 24 33 MECOM 2122 broad.mit.edu 37 3 168830619 168830619 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:168830619C>G uc003ffi.3 - 8 2238 c.1969G>C c.(1969-1971)GAG>CAG p.E657Q MECOM_uc010hwk.1_Missense_Mutation_p.E680Q|MECOM_uc003ffj.3_Missense_Mutation_p.E722Q|MECOM_uc011bpi.1_Missense_Mutation_p.E658Q|MECOM_uc003ffn.3_Missense_Mutation_p.E657Q|MECOM_uc003ffk.2_Missense_Mutation_p.E657Q|MECOM_uc003ffl.2_Missense_Mutation_p.E817Q|MECOM_uc011bpj.1_Missense_Mutation_p.E845Q|MECOM_uc011bpk.1_Missense_Mutation_p.E647Q|MECOM_uc010hwn.2_Missense_Mutation_p.E845Q NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 657 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AAGTATTTCTCTTTTAAAGCT 0.353 NaN 0 0 0 0.004878 0 28 43 KLHL6 89857 broad.mit.edu 37 3 183273151 183273151 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:183273151G>T uc003flr.2 - 1 349 c.291C>A c.(289-291)TTC>TTA p.F97L KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.F95L NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 97 BTB. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ATGCTGACCTGAAATAGTTGC 0.502 NaN 1 0 2.01807e-28 0.01441 2.19627e-28 43 72 C3orf70 285382 broad.mit.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:184870595G>A uc003fpd.2 - 1 208 c.17C>T c.(16-18)TCG>TTG p.S6L NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 6 0 CGACGCCGGCGAGGCCGCCGC 0.716 NaN 0 0 0 0.006122 0 15 19 TACC3 10460 broad.mit.edu 37 4 1737475 1737475 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1737475G>T uc003gdo.2 + 8 1770 c.1662G>T c.(1660-1662)TTG>TTT p.L554F TACC3_uc010ibz.2_Missense_Mutation_p.L554F|TACC3_uc003gdp.2_Missense_Mutation_p.L194F|TACC3_uc010ica.2_5'UTR NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 554 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AGTCGGCCTTGAGGAAGCAGT 0.607 NaN 1 0 1.79414998630790e-318 0.01441 1.97878231815878e-318 518 302 FGFR3 2261 broad.mit.edu 37 4 1803377 1803377 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1803377G>A uc003gdr.3 + 6 902 c.646G>A c.(646-648)GAA>AAA p.E216K FGFR3_uc003gdu.2_Missense_Mutation_p.E216K|FGFR3_uc003gds.3_Missense_Mutation_p.E216K|FGFR3_uc003gdq.3_Missense_Mutation_p.E216K|FGFR3_uc010icb.1_Missense_Mutation_p.E58K|FGFR3_uc003gdt.1_Missense_Mutation_p.E58K NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 216 Extracellular (Potential).|Ig-like C2-type 2. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCTGGTCATGGAAAGCGTGGT 0.677 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.014323 0 16 288 FGFR3 2261 broad.mit.edu 37 4 1803395 1803395 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1803395G>A uc003gdr.3 + 6 920 c.664G>A c.(664-666)GAC>AAC p.D222N FGFR3_uc003gdu.2_Missense_Mutation_p.D222N|FGFR3_uc003gds.3_Missense_Mutation_p.D222N|FGFR3_uc003gdq.3_Missense_Mutation_p.D222N|FGFR3_uc010icb.1_Missense_Mutation_p.D64N|FGFR3_uc003gdt.1_Missense_Mutation_p.D64N NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 222 Extracellular (Potential).|Ig-like C2-type 2. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GGTGCCCTCGGACCGCGGCAA 0.672 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.00278 0 15 292 FGFR3 2261 broad.mit.edu 37 4 1803435 1803435 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1803435G>A uc003gdr.3 + 6 960 c.704G>A c.(703-705)GGC>GAC p.G235D FGFR3_uc003gdu.2_Missense_Mutation_p.G235D|FGFR3_uc003gds.3_Missense_Mutation_p.G235D|FGFR3_uc003gdq.3_Missense_Mutation_p.G235D|FGFR3_uc010icb.1_Missense_Mutation_p.G77D|FGFR3_uc003gdt.1_Missense_Mutation_p.G77D NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 235 Extracellular (Potential).|Ig-like C2-type 2. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) AACAAGTTTGGCAGCATCCGG 0.522 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.010729 0 9 270 WHSC2 7469 broad.mit.edu 37 4 1985607 1985607 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1985607G>A uc003gem.2 - 9 1543 c.1303C>T c.(1303-1305)CAG>TAG p.Q435* WHSC2_uc003gek.2_Nonsense_Mutation_p.Q161*|WHSC2_uc003gel.2_Nonsense_Mutation_p.Q349*|WHSC2_uc003gen.2_Nonsense_Mutation_p.Q289* NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 424 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) GGCTGCTGCTGAGCAGGGGCC 0.672 NaN 0 0 0 0.01441 0 58 39 POLN 353497 broad.mit.edu 37 4 2129877 2129877 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:2129877C>G uc003ger.2 - 17 1945 c.1945G>C c.(1945-1947)GAA>CAA p.E649Q POLN_uc010icg.1_Missense_Mutation_p.E97Q|POLN_uc010ich.1_Missense_Mutation_p.E181Q NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 649 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TCATCTCTTTCAGATTCCTGG 0.373 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.01441 0 40 25 POLN 353497 broad.mit.edu 37 4 2130961 2130961 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:2130961C>G uc003ger.2 - 16 1812 c.1812G>C c.(1810-1812)ACG>ACC p.T604T POLN_uc010icg.1_Silent_p.T52T|POLN_uc010ich.1_Silent_p.T136T NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 604 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TCGGGGAGATCGTGAGAATCT 0.393 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.01441 0 63 46 POLN 353497 broad.mit.edu 37 4 2130975 2130975 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:2130975C>T uc003ger.2 - 16 1798 c.1798G>A c.(1798-1800)GAC>AAC p.D600N POLN_uc010icg.1_Missense_Mutation_p.D48N|POLN_uc010ich.1_Missense_Mutation_p.D132N NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 600 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) AGAATCTTGTCTTCTTTACCT 0.378 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.01441 0 40 38 HTT 3064 broad.mit.edu 37 4 3241734 3241734 + Missense_Mutation SNP A A G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:3241734A>G uc011bvq.1 + 68 9528 c.9383A>G c.(9382-9384)TAT>TGT p.Y3128C NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 3126 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGAAGCCCATATCACCGGCTG 0.602 NaN 0 0 0 0.000602 0 4 14 OTOP1 133060 broad.mit.edu 37 4 4199404 4199404 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:4199404G>A uc003ghp.1 - 5 1187 c.1157C>T c.(1156-1158)GCC>GTC p.A386V NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 386 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAGTTTGCGGGCCGGATTTTT 0.592 NaN 0 0 0 0.005524 0 31 39 TBC1D14 57533 broad.mit.edu 37 4 6925317 6925317 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:6925317G>A uc011bwg.1 + 2 280 c.201G>A c.(199-201)GGG>GGA p.G67G TBC1D14_uc003gjs.3_Silent_p.G67G NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 67 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 TGGACTCGGGGATTCCTACCC 0.652 NaN 0 0 0 0.004482 0 7 87 TBC1D14 57533 broad.mit.edu 37 4 6969065 6969065 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:6969065G>C uc011bwg.1 + 3 836 c.757G>C c.(757-759)GAC>CAC p.D253H TBC1D14_uc003gjs.3_Missense_Mutation_p.D253H NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 253 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 TGCAAGGCTTGACAAACACAA 0.413 NaN 0 0 0 0.008291 0 8 136 ACOX3 8310 broad.mit.edu 37 4 8396454 8396454 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:8396454G>A uc010idk.2 - 10 1217 c.1072C>T c.(1072-1074)CCA>TCA p.P358S ACOX3_uc003glc.3_Missense_Mutation_p.P358S|ACOX3_uc003gld.3_Missense_Mutation_p.P358S|ACOX3_uc003gle.1_Missense_Mutation_p.P263S NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 358 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 GCCAGATATGGAAGCAAGCGC 0.577 NaN 0 0 0 0.00245 0 13 139 TMEM156 80008 broad.mit.edu 37 4 39000395 39000395 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:39000395G>C uc003gto.2 - 2 331 c.223C>G c.(223-225)CTA>GTA p.L75V TMEM156_uc010ifj.2_Missense_Mutation_p.L75V NM_024943 NP_079219 Q8N614 TM156_HUMAN transmembrane protein 156 75 Extracellular (Potential). integral to membrane skin(1) 1 GAGGGATTTAGAAAGATTCTC 0.363 NaN 0 0 0 0.003954 0 18 13 N4BP2 55728 broad.mit.edu 37 4 40122276 40122276 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:40122276G>C uc003guy.3 + 9 2883 c.2545G>C c.(2545-2547)GAG>CAG p.E849Q N4BP2_uc010ifq.2_Missense_Mutation_p.E769Q|N4BP2_uc010ifr.2_Missense_Mutation_p.E769Q NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 849 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TGAAAGTGTAGAGGATGGCAG 0.358 NaN 0 0 0 0.00874 0 36 45 FRYL 285527 broad.mit.edu 37 4 48503750 48503750 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:48503750C>G uc003gyh.1 - 62 9087 c.8482G>C c.(8482-8484)GAA>CAA p.E2828Q FRYL_uc003gye.1_Missense_Mutation_p.E10Q|FRYL_uc003gyf.1_Missense_Mutation_p.E218Q|FRYL_uc003gyg.1_Missense_Mutation_p.E1518Q NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2828 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AGCTCCAATTCCTAGAAATAA 0.294 NaN 0 0 0 0.01441 0 62 46 SRP72 6731 broad.mit.edu 37 4 57356772 57356772 + Missense_Mutation SNP T T A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:57356772T>A uc003hbv.2 + 15 1503 c.1463T>A c.(1462-1464)ATT>AAT p.I488N SRP72_uc010ihe.2_Missense_Mutation_p.I427N|SRP72_uc003hbw.1_Missense_Mutation_p.I249N NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa 488 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) GCACAGCTTATTTCTGCTTAC 0.333 NaN 0 0 0 0.005443 0 21 20 SLC4A4 8671 broad.mit.edu 37 4 72222830 72222830 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:72222830C>A uc003hfy.2 + 6 773 c.656C>A c.(655-657)TCC>TAC p.S219Y SLC4A4_uc010iic.2_Missense_Mutation_p.S219Y|SLC4A4_uc010iib.2_Missense_Mutation_p.S219Y|SLC4A4_uc003hfz.2_Missense_Mutation_p.S219Y|SLC4A4_uc003hgc.3_Missense_Mutation_p.S175Y|SLC4A4_uc003hga.2_Missense_Mutation_p.S97Y|SLC4A4_uc003hgb.3_Missense_Mutation_p.S175Y NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 219 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ACCAAGAAATCCAACCTTCGG 0.483 NaN 1 0 8.87156e-34 0.01441 9.69773e-34 65 73 GK2 2712 broad.mit.edu 37 4 80328945 80328945 + Missense_Mutation SNP A A T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:80328945A>T uc003hlu.2 - 1 428 c.410T>A c.(409-411)GTC>GAC p.V137D NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 137 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 CTTAGACTTGACGAAGTTACT 0.428 NaN 0 0 0 0.00499 0 16 125 FAM13A 10144 broad.mit.edu 37 4 89671584 89671584 + Missense_Mutation SNP G G C rs141057688 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:89671584G>C uc003hse.1 - 15 2139 c.1931C>G c.(1930-1932)TCT>TGT p.S644C FAM13A_uc003hsa.1_Missense_Mutation_p.S115C|FAM13A_uc003hsb.1_Missense_Mutation_p.S318C|FAM13A_uc003hsd.1_Missense_Mutation_p.S318C|FAM13A_uc003hsc.1_Missense_Mutation_p.S304C|FAM13A_uc011cdq.1_Missense_Mutation_p.S290C|FAM13A_uc003hsf.1_Missense_Mutation_p.S230C|FAM13A_uc003hsg.1_Missense_Mutation_p.S115C|FAM13A_uc010ikr.1_Missense_Mutation_p.S140C NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 644 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 CCTCATGAAAGAATGGGAGTT 0.458 NaN 0 0 0 0.005524 0 34 58 FAM13A 10144 broad.mit.edu 37 4 89671699 89671699 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:89671699G>A uc003hse.1 - 15 2024 c.1816C>T c.(1816-1818)CAG>TAG p.Q606* FAM13A_uc003hsa.1_Nonsense_Mutation_p.Q77*|FAM13A_uc003hsb.1_Nonsense_Mutation_p.Q280*|FAM13A_uc003hsd.1_Nonsense_Mutation_p.Q280*|FAM13A_uc003hsc.1_Nonsense_Mutation_p.Q266*|FAM13A_uc011cdq.1_Nonsense_Mutation_p.Q252*|FAM13A_uc003hsf.1_Nonsense_Mutation_p.Q192*|FAM13A_uc003hsg.1_Nonsense_Mutation_p.Q77*|FAM13A_uc010ikr.1_Nonsense_Mutation_p.Q102* NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 606 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 TCCAGCAGCTGACGGATCAGG 0.592 NaN 0 0 0 0.003954 0 25 46 ARHGEF38 54848 broad.mit.edu 37 4 106510538 106510538 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:106510538C>G uc003hxu.2 + 2 476 c.330C>G c.(328-330)CTC>CTG p.L110L NM_017700 NP_060170 Q9NXL2 ARH38_HUMAN hypothetical protein LOC54848 110 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|breast(1) 3 AGGATTATCTCAATGATCTAG 0.378 NaN 0 0 0 0.005524 0 29 43 INTS12 57117 broad.mit.edu 37 4 106603932 106603932 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:106603932C>T uc003hxw.2 - 8 1605 c.1347G>A c.(1345-1347)CAG>CAA p.Q449Q INTS12_uc010ilr.2_Silent_p.Q449Q NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 449 snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) TCTTGACCATCTGTAATCGCT 0.408 NaN 0 0 0 0.01441 0 67 110 KIAA1109 84162 broad.mit.edu 37 4 123141550 123141550 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:123141550G>C uc003ieh.2 + 20 2583 c.2538G>C c.(2536-2538)ATG>ATC p.M846I KIAA1109_uc003iei.1_Missense_Mutation_p.M600I|KIAA1109_uc010ins.1_Missense_Mutation_p.M190I|KIAA1109_uc003iej.1_Missense_Mutation_p.M231I NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 846 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GTTTTGAAATGAAAAAAGGAT 0.393 NaN 0 0 0 0.014323 0 19 19 KIAA1109 84162 broad.mit.edu 37 4 123159417 123159417 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:123159417G>A uc003ieh.2 + 26 3790 c.3745G>A c.(3745-3747)GAA>AAA p.E1249K KIAA1109_uc003iei.1_Missense_Mutation_p.E1002K|KIAA1109_uc010ins.1_Missense_Mutation_p.E592K|KIAA1109_uc003iek.2_5'Flank NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1249 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GTTGGCTGGTGAAAAGGAAAG 0.433 NaN 0 0 0 0.005524 0 34 33 TTC29 83894 broad.mit.edu 37 4 147754965 147754965 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:147754965G>A uc003ikw.3 - 9 1197 c.970C>T c.(970-972)CTG>TTG p.L324L TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.L350L|TTC29_uc010ipd.1_Silent_p.L324L NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 324 TPR 4. binding 0 all_hematologic(180;0.151) TACCTCTGCAGGACCTTGGCT 0.448 NaN 0 0 0 0.005524 0 29 32 CCDC111 201973 broad.mit.edu 37 4 185606792 185606792 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:185606792C>T uc003iwk.2 + 11 1682 c.1249C>T c.(1249-1251)CGG>TGG p.R417W CCDC111_uc003iwj.2_Missense_Mutation_p.R416W|CCDC111_uc003iwl.2_Missense_Mutation_p.R417W|CCDC111_uc003iwm.2_Missense_Mutation_p.R288W|CCDC111_uc003iwn.2_Missense_Mutation_p.R157W NM_152683 NP_689896 Q96LW4 CC111_HUMAN coiled-coil domain containing 111 417 DNA replication, synthesis of RNA primer DNA primase activity central_nervous_system(1) 1 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) TTGTAAATATCGGTGGTGTGA 0.279 NaN 0 0 0 0.01441 0 44 37 FAM105B 90268 broad.mit.edu 37 5 14690313 14690313 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:14690313C>T uc003jfk.2 + 6 912 c.760C>T c.(760-762)CCA>TCA p.P254S NM_138348 NP_612357 Q96BN8 F105B_HUMAN hypothetical protein LOC90268 254 ovary(2) 2 Lung NSC(4;0.00696) AAAGGAAGTACCATTTTTCTC 0.428 NaN 0 0 0 0.007291 0 28 20 ZNF622 90441 broad.mit.edu 37 5 16453158 16453158 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:16453158G>A uc003jfq.2 - 5 1390 c.1270C>T c.(1270-1272)CAG>TAG p.Q424* NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 424 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 CTGTACTGCTGAAGTACTCGG 0.502 NaN 0 0 0 0.012319 0 18 39 ZFR 51663 broad.mit.edu 37 5 32364311 32364311 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:32364311C>G uc003jhr.1 - 18 2986 c.2906G>C c.(2905-2907)AGA>ACA p.R969T ZFR_uc010ium.1_Missense_Mutation_p.R100T|ZFR_uc011cny.1_RNA NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 969 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) AAAAACTCTTCTCAGTGCATC 0.353 NaN 0 0 0 0.01441 0 51 45 ADAMTS12 81792 broad.mit.edu 37 5 33751570 33751570 + Silent SNP C C T rs143045075 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:33751570C>T uc003jia.1 - 3 736 c.573G>A c.(571-573)CCG>CCA p.P191P ADAMTS12_uc010iuq.1_Silent_p.P191P|ADAMTS12_uc003jib.1_Silent_p.P191P NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 191 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AAACGATGTGCGGGTGGTACC 0.463 NaN HNSCC(64;0.19) 0 0 0 0.008361 0 26 70 C9 735 broad.mit.edu 37 5 39311467 39311467 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:39311467G>C uc003jlv.3 - 7 972 c.883C>G c.(883-885)CTG>GTG p.L295V NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 295 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTCACATGCAGAAACATTTTT 0.348 NaN 0 0 0 0.010818 0 27 15 IL31RA 133396 broad.mit.edu 37 5 55178999 55178999 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:55178999C>T uc003jql.2 + 5 647 c.582C>T c.(580-582)TTC>TTT p.F194F IL31RA_uc003jqk.2_Silent_p.F194F|IL31RA_uc011cqj.1_Silent_p.F52F|IL31RA_uc003jqm.2_Silent_p.F162F|IL31RA_uc003jqn.2_Silent_p.F194F|IL31RA_uc010iwa.1_Silent_p.F162F|IL31RA_uc003jqo.2_Silent_p.F52F NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 162 Extracellular (Potential).|Fibronectin type-III 2. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CACTTCGATTCAGGACAGTCA 0.388 NaN 0 0 0 0.00623 0 31 13 SGTB 54557 broad.mit.edu 37 5 64967757 64967757 + Nonsense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:64967757G>C uc003jud.2 - 10 1008 c.788C>G c.(787-789)TCA>TGA p.S263* NM_019072 NP_061945 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat 263 binding 0 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) GATGAGGCTTGACAGGTCAGT 0.423 NaN 0 0 0 0.007413 0 16 19 MSH3 4437 broad.mit.edu 37 5 80063775 80063775 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:80063775G>C uc003kgz.2 + 14 2173 c.1920G>C c.(1918-1920)TTG>TTC p.L640F NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 640 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) AGTTCTTCTTGATTGTCAAAA 0.303 NaN MMR 0 0 0 0.008291 0 8 27 RHOBTB3 22836 broad.mit.edu 37 5 95067591 95067591 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:95067591G>A uc003klm.2 + 2 568 c.31G>A c.(31-33)GAG>AAG p.E11K RHOBTB3_uc003klk.1_5'UTR|RHOBTB3_uc003kll.2_Missense_Mutation_p.E11K NM_014899 NP_055714 O94955 RHBT3_HUMAN rho-related BTB domain containing 3 11 Rho-like. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding lung(1)|skin(1) 2 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) GCTGGGGAACGAGGGGGACAC 0.652 NaN 0 0 0 0.005443 0 18 42 RHOBTB3 22836 broad.mit.edu 37 5 95067677 95067677 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:95067677G>C uc003klm.2 + 2 654 c.117G>C c.(115-117)GAG>GAC p.E39D RHOBTB3_uc003klk.1_5'UTR|RHOBTB3_uc003kll.2_Missense_Mutation_p.E39D NM_014899 NP_055714 O94955 RHBT3_HUMAN rho-related BTB domain containing 3 39 Rho-like. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding lung(1)|skin(1) 2 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) CCGGGGACGAGAGCAGCTTGT 0.637 NaN 0 0 0 0.012319 0 18 42 SNCAIP 9627 broad.mit.edu 37 5 121759135 121759135 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:121759135G>A uc003ksw.1 + 4 909 c.703G>A c.(703-705)GAA>AAA p.E235K SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.E235K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E282K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E235K NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 235 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GTCCACTGAAGAAACCGAGAT 0.458 NaN 0 0 0 0.00333 0 23 39 PPIC 5480 broad.mit.edu 37 5 122364492 122364492 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:122364492G>A uc003kth.2 - 3 408 c.303C>T c.(301-303)ATC>ATT p.I101I PPIC_uc011cwp.1_3'UTR NM_000943 NP_000934 P45877 PPIC_HUMAN peptidylprolyl isomerase C 101 PPIase cyclophilin-type. protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding ovary(1) 1 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) CTCCAGTGGTGATGTCACCTC 0.393 NaN 0 0 0 0.003163 0 13 28 FNIP1 96459 broad.mit.edu 37 5 131046318 131046318 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:131046318G>C uc003kvs.1 - 7 801 c.659C>G c.(658-660)TCT>TGT p.S220C RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Intron|FNIP1_uc010jdm.1_Missense_Mutation_p.S175C|FNIP1_uc003kvu.2_Missense_Mutation_p.S220C NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 220 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) ACCCTGCTCAGAGAATGCCCG 0.527 NaN 0 0 0 0.006122 0 14 12 PCDHA8 56140 broad.mit.edu 37 5 140222358 140222358 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:140222358G>A uc003lhs.2 + 1 1452 c.1452G>A c.(1450-1452)GCG>GCA p.A484A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.A484A NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 484 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCGGACGCGCAGGAGAACG 0.657 NaN 0 0 0 0.01441 0 44 69 KIAA0141 9812 broad.mit.edu 37 5 141314121 141314121 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:141314121G>A uc003lls.2 + 10 1241 c.1119G>A c.(1117-1119)GTG>GTA p.V373V KIAA0141_uc003llt.2_Silent_p.V373V|KIAA0141_uc003llu.1_RNA NM_001142603 NP_001136075 Q14154 DELE_HUMAN hypothetical protein LOC9812 precursor 373 TPR 5. apoptosis|regulation of caspase activity mitochondrion protein binding skin(1) 1 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGAGCTGTGAAATATCTTT 0.507 NaN 0 0 0 0.01441 0 65 31 ARHGEF37 389337 broad.mit.edu 37 5 148999931 148999931 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:148999931C>T uc003lra.1 + 8 973 c.909C>T c.(907-909)TTC>TTT p.F303F NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 303 BAR. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 TCCTCTACTTCAGGCCGCACG 0.408 NaN 0 0 0 0.010818 0 21 94 PDGFRB 5159 broad.mit.edu 37 5 149498309 149498309 + Splice_Site SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:149498309C>A uc003lro.2 - 21 3373 c.2904_splice c.e21+1 p.K968_splice PDGFRB_uc010jhd.2_Splice_Site_p.K807_splice NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCTCAACATACCTTTTTGTAA 0.557 NaN T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 1 0 8.72158e-25 0.01441 9.44998e-25 49 33 FAT2 2196 broad.mit.edu 37 5 150935954 150935954 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:150935954G>C uc003lue.3 - 3 3597 c.3584C>G c.(3583-3585)TCT>TGT p.S1195C GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.S1195C NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1195 Extracellular (Potential).|Cadherin 10. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGGGCTGTAGATAGGAGACC 0.458 NaN 0 0 0 0.00632 0 23 32 ATP6V0E1 8992 broad.mit.edu 37 5 172410891 172410891 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:172410891C>G uc003mcd.1 + 1 129 c.28C>G c.(28-30)CTC>GTC p.L10V NM_003945 NP_003936 O15342 VA0E1_HUMAN ATPase, H+ transporting, lysosomal 9kDa, V0 10 Helical; (Potential). ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole proton-transporting ATPase activity, rotational mechanism 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CACTGTGCCTCTCATTGTGAT 0.617 NaN 0 0 0 0.01441 0 91 180 HIST1H3D 8351 broad.mit.edu 37 6 26197163 26197163 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:26197163C>T uc003ngv.2 - 2 713 c.316G>A c.(316-318)GAG>AAG p.E106K HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 106 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) TTGGTGTCCTCAAACAGCCCC 0.592 NaN 0 0 0 0.01441 0 61 67 C6orf27 80737 broad.mit.edu 37 6 31735166 31735166 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:31735166C>T uc011dog.1 - 12 2000 c.1762G>A c.(1762-1764)GAG>AAG p.E588K C6orf27_uc003nxd.2_Missense_Mutation_p.E263K NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 588 extracellular region ovary(3) 3 GGGGTGTCCTCAGCTGTGACC 0.592 NaN 0 0 0 0.01441 0 36 53 BTNL2 56244 broad.mit.edu 37 6 32362585 32362585 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:32362585G>A uc003obg.1 - 6 1296 c.1296C>T c.(1294-1296)GAC>GAT p.D432D BTNL2_uc010jty.1_Silent_p.D155D|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.D222D NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 432 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 AACAAGTGACGTCCACAGCGG 0.498 NaN 0 0 0 0.00245 0 11 140 TAP1 6890 broad.mit.edu 37 6 32821186 32821186 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:32821186G>A uc003ocg.2 - 1 563 c.408C>T c.(406-408)CTC>CTT p.L136L TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 136 Helical; Name=2; (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 CCGTTGCCCTGAGGACCCCGC 0.697 NaN 0 0 0 0.001168 0 5 10 PACSIN1 29993 broad.mit.edu 37 6 34499551 34499551 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:34499551C>G uc003ojo.2 + 9 1418 c.1212C>G c.(1210-1212)CTC>CTG p.L404L PACSIN1_uc003ojp.2_Silent_p.L404L NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 404 SH3. endocytosis protein kinase activity 0 AGGACGAGCTCAGCTTTAAGG 0.652 NaN 0 0 0 0.01441 0 46 67 NFKBIE 4794 broad.mit.edu 37 6 44233167 44233167 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:44233167C>G uc003oxe.1 - 1 359 c.334G>C c.(334-336)GAC>CAC p.D112H NM_004556 NP_004547 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene 112 cytoplasmic sequestering of transcription factor protein binding breast(2) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGTTGCGGGTCCGCTTGGCAG 0.667 NaN 0 0 0 0.004672 0 2 4 NFKBIE 4794 broad.mit.edu 37 6 44233256 44233256 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:44233256C>T uc003oxe.1 - 1 270 c.245G>A c.(244-246)CGA>CAA p.R82Q NM_004556 NP_004547 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene 82 cytoplasmic sequestering of transcription factor protein binding breast(2) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGACAAGGTTCGGAGCGCTGG 0.642 NaN 0 0 0 0.009096 0 3 5 NFKBIE 4794 broad.mit.edu 37 6 44233273 44233273 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:44233273C>T uc003oxe.1 - 1 253 c.228G>A c.(226-228)TGG>TGA p.W76* NM_004556 NP_004547 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene 76 cytoplasmic sequestering of transcription factor protein binding breast(2) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGGCCAGGTCCACCCAGCGG 0.612 NaN 0 0 0 0.009096 0 3 6 FAM83B 222584 broad.mit.edu 37 6 54735420 54735420 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:54735420C>A uc003pck.2 + 2 492 c.376C>A c.(376-378)CAT>AAT p.H126N NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 126 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TCTCCTTTTTCATCCACCAAG 0.398 NaN 1 0 5.03518e-11 0.007413 5.28159e-11 16 35 IMPG1 3617 broad.mit.edu 37 6 76734920 76734920 + Missense_Mutation SNP T T A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:76734920T>A uc003pik.1 - 5 683 c.553A>T c.(553-555)ATT>TTT p.I185F NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 185 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCTGTTGAAATGACAATGGTT 0.323 NaN 0 0 0 0.007413 0 15 49 KIAA1009 22832 broad.mit.edu 37 6 84872884 84872884 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:84872884C>T uc010kbp.2 - 19 2588 c.2491G>A c.(2491-2493)GAT>AAT p.D831N KIAA1009_uc003pkj.3_Missense_Mutation_p.D755N|KIAA1009_uc003pki.3_Missense_Mutation_p.D217N NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 831 Potential. cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) GCAATCTGATCTTTGGCTTGG 0.333 NaN 0 0 0 0.007291 0 25 79 RFPL4B 442247 broad.mit.edu 37 6 112671645 112671645 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:112671645C>G uc003pvx.1 + 3 1047 c.735C>G c.(733-735)TTC>TTG p.F245L NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 245 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) GTCCATTCTTCTGTCTTGAGC 0.438 NaN 0 0 0 0.003755 0 28 19 TAAR5 9038 broad.mit.edu 37 6 132909813 132909813 + Nonstop_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:132909813C>G uc003qdk.2 - 1 1065 c.1013G>C c.(1012-1014)TGA>TCA p.*338S NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 338 synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) TAGAAGGAATCATTCTTGGTA 0.488 NaN 0 0 0 0.009718 0 32 27 FBXO30 84085 broad.mit.edu 37 6 146127103 146127103 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:146127103C>T uc003qla.2 - 2 638 c.439G>A c.(439-441)GAT>AAT p.D147N uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 147 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) GATACTTTATCAGTTGCTTTT 0.403 NaN 0 0 0 0.01441 0 53 36 RAET1E 135250 broad.mit.edu 37 6 150209697 150209697 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:150209697G>A uc003qnl.1 - 4 789 c.729C>T c.(727-729)CTC>CTT p.L243L uc003qni.1_Intron|RAET1E_uc003qnj.2_Intron|RAET1E_uc003qnk.1_Silent_p.L207L|RAET1E_uc010kih.1_RNA NM_139165 NP_631904 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E precursor 243 Helical; (Potential). antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) AGACACAGATGAGAACAATTC 0.473 NaN 0 0 0 0.00874 0 34 71 RAET1E 135250 broad.mit.edu 37 6 150210554 150210554 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:150210554G>C uc003qnl.1 - 3 612 c.552C>G c.(550-552)CTC>CTG p.L184L uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.L184L|RAET1E_uc003qnk.1_Silent_p.L148L|RAET1E_uc010kih.1_RNA NM_139165 NP_631904 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E precursor 184 Extracellular (Potential).|MHC class I alpha-2 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CTCCCTTTGAGAGCTTCCTGA 0.493 NaN 0 0 0 0.005443 0 24 42 SYNJ2 8871 broad.mit.edu 37 6 158449892 158449892 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:158449892C>T uc003qqx.1 + 3 394 c.319C>T c.(319-321)CTT>TTT p.L107F SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.L107F|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.L56F|SYNJ2_uc010kjo.1_Missense_Mutation_p.L56F NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 107 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTTTTACCCTCTTCAGGAAGA 0.502 NaN 0 0 0 0.007291 0 23 16 RSPH10B2 728194 broad.mit.edu 37 7 5967926 5967926 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:5967926T>C uc003sph.1 - 20 2604 c.2333A>G c.(2332-2334)AAA>AGA p.K778R RSPH10B2_uc003spg.1_Intron|RSPH10B2_uc010ktd.1_Missense_Mutation_p.K778R|RSPH10B2_uc011jwk.1_3'UTR NM_173565 NP_775836 B2RC85 R10B2_HUMAN radial spoke head 10 homolog B 778 ovary(1)|pancreas(1)|skin(1) 3 TTCTTCACGTTTATACGCATG 0.463 NaN 0 0 0 0.01441 0 28 177 CDCA7L 55536 broad.mit.edu 37 7 21947797 21947797 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:21947797G>A uc010kuk.2 - 4 752 c.632C>T c.(631-633)TCA>TTA p.S211L CDCA7L_uc003sve.3_Missense_Mutation_p.S177L|CDCA7L_uc010kul.2_Missense_Mutation_p.S165L|CDCA7L_uc003svf.3_Missense_Mutation_p.S210L|CDCA7L_uc011jyk.1_Missense_Mutation_p.S211L NM_018719 NP_061189 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like isoform 1 211 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus 0 CAAAGCATCTGAACTCTCCTG 0.498 NaN 0 0 0 0.008291 0 10 10 URGCP 55665 broad.mit.edu 37 7 43916794 43916794 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:43916794C>G uc003tiw.2 - 6 2325 c.2268G>C c.(2266-2268)TTG>TTC p.L756F URGCP_uc003tiu.2_Missense_Mutation_p.L713F|URGCP_uc003tiv.2_Missense_Mutation_p.L681F|URGCP_uc003tix.2_Missense_Mutation_p.L747F|URGCP_uc003tiy.2_Missense_Mutation_p.L713F|URGCP_uc003tiz.2_Missense_Mutation_p.L713F|URGCP_uc011kbj.1_Missense_Mutation_p.L713F NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 756 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 CCCCACCTATCAAGCCCCCGG 0.597 NaN 0 0 0 0.012319 0 19 21 OGDH 4967 broad.mit.edu 37 7 44664045 44664045 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:44664045C>T uc003tln.2 + 2 212 c.103C>T c.(103-105)CAA>TAA p.Q35* OGDH_uc003tlm.2_Nonsense_Mutation_p.Q35*|OGDH_uc011kbx.1_Nonsense_Mutation_p.Q35*|OGDH_uc011kby.1_Nonsense_Mutation_p.Q35*|OGDH_uc003tlp.2_Nonsense_Mutation_p.Q35*|OGDH_uc011kbz.1_5'UTR NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 35 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TAGGACATTTCAACAGATTCG 0.468 NaN 0 0 0 0.01441 0 101 124 TNS3 64759 broad.mit.edu 37 7 47454805 47454805 + Splice_Site SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:47454805C>T uc003tnv.2 - 11 841 c.474_splice c.e11-1 p.R158_splice TNS3_uc003tnw.2_Splice_Site_p.R158_splice|TNS3_uc010kyo.1_Splice_Site_p.R158_splice NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 focal adhesion protein binding ovary(4) 4 CTGAACATACCTGCAAAACGG 0.537 NaN 0 0 0 0.003163 0 13 16 PION 54103 broad.mit.edu 37 7 77011907 77011907 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:77011907C>T uc003ugf.2 - 7 589 c.510G>A c.(508-510)CTG>CTA p.L170L PION_uc003ugg.1_5'UTR NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 170 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 CTTCTGAAATCAGTAACAGAT 0.343 NaN 0 0 0 0.007413 0 13 31 MAGI2 9863 broad.mit.edu 37 7 77649030 77649030 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:77649030C>T uc003ugx.2 - 22 4224 c.3970G>A c.(3970-3972)GCG>ACG p.A1324T MAGI2_uc003ugy.2_Missense_Mutation_p.A1310T NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 1324 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTCGGCCGCGCGGCCCTCTGC 0.403 NaN 0 0 0 0.009096 0 4 4 DBF4 10926 broad.mit.edu 37 7 87529618 87529618 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:87529618G>A uc003ujf.1 + 9 1267 c.763G>A c.(763-765)GTA>ATA p.V255I DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_Missense_Mutation_p.V31I|DBF4_uc011khf.1_Missense_Mutation_p.V22I NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 255 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) TCCATTTGATGTAGACAAGCC 0.323 NaN 0 0 0 0.010818 0 26 28 AKAP9 10142 broad.mit.edu 37 7 91736731 91736731 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:91736731G>C uc003ulg.2 + 48 11766 c.11541G>C c.(11539-11541)CAG>CAC p.Q3847H AKAP9_uc003ulf.2_Missense_Mutation_p.Q3839H|AKAP9_uc003uli.2_Missense_Mutation_p.Q3470H|AKAP9_uc003ulj.2_Missense_Mutation_p.Q1617H|AKAP9_uc003ull.2_Missense_Mutation_p.Q743H NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3851 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TACCATTTCAGAATAGGTAAG 0.363 NaN T BRAF papillary thyroid 0 0 0 0.008361 0 24 19 LMTK2 22853 broad.mit.edu 37 7 97822019 97822019 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:97822019G>C uc003upd.1 + 11 2535 c.2242G>C c.(2242-2244)GAA>CAA p.E748Q NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 748 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCTTCAGACAGAACTTAAGAA 0.343 NaN 0 0 0 0.006122 0 17 12 MEPCE 56257 broad.mit.edu 37 7 100028615 100028615 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:100028615G>A uc003uuw.2 + 1 1087 c.974G>A c.(973-975)AGG>AAG p.R325K ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN bin3, bicoid-interacting 3 325 methyltransferase activity upper_aerodigestive_tract(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATCAACTGCAGGGATGAAGTG 0.627 NaN 0 0 0 0.01441 0 78 110 ZAN 7455 broad.mit.edu 37 7 100334701 100334701 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:100334701C>T uc003uwj.2 + 5 688 c.523C>T c.(523-525)CGG>TGG p.R175W ZAN_uc003uwk.2_Missense_Mutation_p.R175W|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 175 MAM 1.|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) CCTGCCCACCCGGGTAAGGCC 0.657 NaN 0 0 0 0.013537 0 9 0 ZAN 7455 broad.mit.edu 37 7 100382358 100382358 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:100382358G>A uc003uwj.2 + 37 6901 c.6736G>A c.(6736-6738)GAG>AAG p.E2246K ZAN_uc003uwk.2_Missense_Mutation_p.E2246K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.E296K NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2246 Extracellular (Potential).|TIL 4. 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) TGCCTGCGCTGAGGGCTGCAT 0.612 NaN 0 0 0 0.003954 0 23 36 MOGAT3 346606 broad.mit.edu 37 7 100843571 100843571 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:100843571C>T uc003uyc.2 - 3 399 c.232G>A c.(232-234)GAG>AAG p.E78K MOGAT3_uc010lhr.2_Missense_Mutation_p.E78K NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 78 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) CTTATCCACTCCGAACGCCTT 0.562 NaN 0 0 0 0.01441 0 81 128 ZC3HC1 51530 broad.mit.edu 37 7 129680905 129680905 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:129680905G>C uc003vpi.2 - 3 322 c.295C>G c.(295-297)CCA>GCA p.P99A ZC3HC1_uc003vph.2_5'UTR|ZC3HC1_uc010lma.2_5'UTR NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 99 cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) CAGACGAGTGGAGACAGCTCA 0.368 NaN 0 0 0 0.01441 0 110 191 TMEM139 135932 broad.mit.edu 37 7 142983919 142983919 + Silent SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:142983919T>C uc010lov.2 + 4 787 c.648T>C c.(646-648)CCT>CCC p.P216P CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|CASP2_uc003wcq.2_5'Flank|TMEM139_uc003wck.3_Silent_p.P216P|TMEM139_uc003wcl.2_Silent_p.P216P|TMEM139_uc003wcm.2_Silent_p.P216P|TMEM139_uc003wcn.2_RNA NM_153345 NP_699176 Q8IV31 TM139_HUMAN transmembrane protein 139 precursor 216 Cytoplasmic (Potential). integral to membrane 0 Melanoma(164;0.059) GGGCACCCCCTTAAATGACTC 0.378 NaN 0 0 0 0.004672 0 3 164 ARHGEF35 445328 broad.mit.edu 37 7 143885433 143885433 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:143885433G>A uc003wdz.1 - 2 162 c.44C>T c.(43-45)TCT>TTT p.S15F NM_001003702 NP_001003702 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 0 CTCTATGGCAGAGATGGGAGG 0.512 NaN 0 0 0 0.00632 0 24 62 NOS3 4846 broad.mit.edu 37 7 150693932 150693932 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:150693932G>C uc003wif.2 + 5 797 c.501G>C c.(499-501)GAG>GAC p.E167D NOS3_uc011kuy.1_Intron|NOS3_uc011kuz.1_Missense_Mutation_p.E167D|NOS3_uc011kva.1_Missense_Mutation_p.E167D|NOS3_uc011kvb.1_Missense_Mutation_p.E167D NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 167 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) AGCTTAGGGAGAGCGAGCTGG 0.692 NaN 0 0 0 0.006214 0 7 11 MLL3 58508 broad.mit.edu 37 7 151880184 151880184 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:151880184C>G uc003wla.2 - 35 5359 c.5140G>C c.(5140-5142)GAT>CAT p.D1714H MLL3_uc003wkz.2_Missense_Mutation_p.D775H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1714 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) TTCATGGAATCATTTGACATC 0.353 NaN N medulloblastoma 0 0 0 0.01441 0 162 215 MLL3 58508 broad.mit.edu 37 7 151891214 151891214 + Splice_Site SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:151891214C>G uc003wla.2 - 31 4760 c.4541_splice c.e31-1 p.E1514_splice MLL3_uc003wkz.2_Splice_Site_p.E575_splice NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 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) CCGCCAAGCTCTAGGAGATAA 0.418 NaN N medulloblastoma 0 0 0 0.012213 0 30 32 DLGAP2 9228 broad.mit.edu 37 8 1645432 1645432 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:1645432C>T uc003wpl.2 + 11 2773 c.2676C>T c.(2674-2676)AAC>AAT p.N892N DLGAP2_uc003wpm.2_Silent_p.N878N NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 971 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGCGGCTCAACGACTGGAAGA 0.612 NaN 0 0 0 0.013537 0 9 114 MFHAS1 9258 broad.mit.edu 37 8 8749555 8749555 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:8749555G>A uc003wsj.1 - 1 1577 c.1014C>T c.(1012-1014)ATC>ATT p.I338I NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 338 LRR 12. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TCAGCTCCACGATGGAGTCCG 0.637 NaN 0 0 0 0.01441 0 63 79 ENTPD4 9583 broad.mit.edu 37 8 23290508 23290508 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:23290508C>T uc003xdl.2 - 13 1946 c.1782G>A c.(1780-1782)CGG>CGA p.R594R ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Silent_p.R586R NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 594 Cytoplasmic (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) CCGAGCTGCTCCGGGGAGTGC 0.647 NaN 0 0 0 0.00333 0 22 27 YTHDF3 253943 broad.mit.edu 37 8 64099964 64099964 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:64099964C>T uc003xuy.2 + 5 1711 c.1395C>T c.(1393-1395)TTC>TTT p.F465F YTHDF3_uc010lys.2_Silent_p.F409F|YTHDF3_uc003xuz.2_Silent_p.F409F|YTHDF3_uc003xva.2_Silent_p.F409F|YTHDF3_uc011len.1_Silent_p.F409F NM_152758 NP_689971 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 465 YTH. 0 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) ATTTACTCTTCAGTGTGAATG 0.448 NaN 0 0 0 0.004656 0 22 27 YTHDF3 253943 broad.mit.edu 37 8 64100049 64100049 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:64100049C>G uc003xuy.2 + 5 1796 c.1480C>G c.(1480-1482)CAG>GAG p.Q494E YTHDF3_uc010lys.2_Missense_Mutation_p.Q438E|YTHDF3_uc003xuz.2_Missense_Mutation_p.Q438E|YTHDF3_uc003xva.2_Missense_Mutation_p.Q438E|YTHDF3_uc011len.1_Missense_Mutation_p.Q438E NM_152758 NP_689971 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 494 YTH. 0 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) TGTCTGGTCTCAGGATAAGTG 0.388 NaN 0 0 0 0.006999 0 31 27 NCOA2 10499 broad.mit.edu 37 8 71068649 71068649 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:71068649G>A uc003xyn.1 - 11 2113 c.1951C>T c.(1951-1953)CAG>TAG p.Q651* NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 651 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GGCTCCATCTGATCAGATTTG 0.567 NaN T RUNXBP2 AML 0 0 0 0.01441 0 48 85 GDAP1 54332 broad.mit.edu 37 8 75272520 75272520 + Silent SNP G G T rs149804782 byFrequency TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:75272520G>T uc003yah.2 + 3 538 c.459G>T c.(457-459)CCG>CCT p.P153P GDAP1_uc011lfj.1_Silent_p.P38P|GDAP1_uc003yai.2_Silent_p.P85P NM_018972 NP_061845 Q8TB36 GDAP1_HUMAN ganglioside-induced differentiation-associated 153 GST C-terminal. cytoplasm 0 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) CCATGATCCCGGCTTATGCAA 0.418 NaN 1 0 3.50607e-19 0.01441 3.74944e-19 42 61 ZFHX4 79776 broad.mit.edu 37 8 77618708 77618708 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:77618708G>A uc003yav.2 + 2 2772 c.2385G>A c.(2383-2385)ATG>ATA p.M795I ZFHX4_uc003yat.1_Missense_Mutation_p.M795I|ZFHX4_uc003yau.1_Missense_Mutation_p.M795I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M795I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 795 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCATAATATGATGCTTTTGC 0.483 NaN HNSCC(33;0.089) 0 0 0 0.001984 0 6 13 ZFHX4 79776 broad.mit.edu 37 8 77763619 77763619 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:77763619G>C uc003yav.2 + 10 4714 c.4327G>C c.(4327-4329)GAG>CAG p.E1443Q ZFHX4_uc003yau.1_Missense_Mutation_p.E1488Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1443Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1443 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCAGGAAATGGAGAGAGAGTA 0.502 NaN HNSCC(33;0.089) 0 0 0 0.004656 0 21 30 UBR5 51366 broad.mit.edu 37 8 103301750 103301750 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:103301750G>T uc003ykr.1 - 35 4677 c.4644C>A c.(4642-4644)ATC>ATA p.I1548I UBR5_uc003yks.1_Silent_p.I1548I NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1548 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GTGACTGGCTGATGCGCCTCT 0.473 NaN 1 0 9.7654e-05 0.007413 0.00010009 14 157 TRPS1 7227 broad.mit.edu 37 8 116616766 116616766 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:116616766G>A uc003ynz.2 - 3 1850 c.1391C>T c.(1390-1392)TCA>TTA p.S464L TRPS1_uc011lhy.1_Missense_Mutation_p.S468L|TRPS1_uc003yny.2_Missense_Mutation_p.S477L|TRPS1_uc010mcy.2_Missense_Mutation_p.S464L NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 464 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AAGGCCGCCTGACTGCACTGC 0.433 NaN Langer-Giedion_syndrome 0 0 0 0.014323 0 20 34 ASAP1 50807 broad.mit.edu 37 8 131138243 131138243 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:131138243G>A uc003yta.1 - 16 1502 c.1474C>T c.(1474-1476)CAG>TAG p.Q492* ASAP1_uc003ysz.1_Nonsense_Mutation_p.Q303*|ASAP1_uc011liw.1_Nonsense_Mutation_p.Q485* NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 492 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TCCAAAGACTGAATGCGAGAA 0.383 NaN 0 0 0 0.004878 0 33 48 TOP1MT 116447 broad.mit.edu 37 8 144411592 144411592 + Silent SNP A A G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:144411592A>G uc003yxz.2 - 3 307 c.288T>C c.(286-288)TAT>TAC p.Y96Y TOP1MT_uc011lkd.1_5'UTR|TOP1MT_uc011lke.1_5'UTR|TOP1MT_uc010mfb.2_5'UTR|TOP1MT_uc010mfd.1_5'UTR NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 96 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) ACATCCTCCCATAAAAAGTGG 0.552 NaN 0 0 0 0.004289 0 30 105 PSIP1 11168 broad.mit.edu 37 9 15472667 15472667 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:15472667G>A uc003zlv.3 - 10 1270 c.940C>T c.(940-942)CGA>TGA p.R314* PSIP1_uc003zlw.3_Nonsense_Mutation_p.R314*|PSIP1_uc003zlz.3_Nonsense_Mutation_p.R314*|PSIP1_uc003zma.3_Nonsense_Mutation_p.R305*|PSIP1_uc003zly.2_Nonsense_Mutation_p.R314* NM_033222 NP_150091 O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 isoform 2 314 Potential. initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(1) 1 GBM - Glioblastoma multiforme(50;2.38e-06) TTGCGTTTTCGATCTGCTGCT 0.363 NaN 0 0 0 0.004878 0 32 5 C9orf82 79886 broad.mit.edu 37 9 26884835 26884835 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:26884835G>A uc003zqc.2 - 4 650 c.638C>T c.(637-639)TCT>TTT p.S213F C9orf82_uc003zqb.2_Missense_Mutation_p.S68F NM_024828 NP_079104 Q9H8G2 CI082_HUMAN hypothetical protein LOC79886 213 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) TCCCATCTTAGAACCATCATC 0.294 NaN 0 0 0 0.01441 0 74 11 NPR2 4882 broad.mit.edu 37 9 35805555 35805555 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:35805555C>G uc003zyd.2 + 13 1935 c.1935C>G c.(1933-1935)CTC>CTG p.L645L NPR2_uc010mlb.2_Silent_p.L621L NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 645 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) ATGGGAGTCTCAAGTCCTCCA 0.488 NaN 0 0 0 0.01441 0 77 9 SMC5 23137 broad.mit.edu 37 9 72879297 72879297 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:72879297G>C uc004ahr.2 + 2 380 c.263G>C c.(262-264)AGC>ACC p.S88T NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 88 DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 GGGAAGTCGAGCATTGTGTGT 0.373 NaN 0 0 0 0.008871 0 14 34 NFIL3 4783 broad.mit.edu 37 9 94172288 94172288 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:94172288G>A uc004arh.2 - 2 1124 c.729C>T c.(727-729)ATC>ATT p.I243I NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 243 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 AGTTTTGATAGATGGACGCTG 0.488 NaN 0 0 0 0.01441 0 46 8 ECM2 1842 broad.mit.edu 37 9 95277062 95277062 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:95277062G>C uc004ash.2 - 4 970 c.905C>G c.(904-906)TCT>TGT p.S302C CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.S280C|ECM2_uc011lty.1_Missense_Mutation_p.S302C|ECM2_uc004asg.2_Missense_Mutation_p.S280C NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 302 cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 CGGGGATCGAGAGGGCATTCG 0.403 NaN 0 0 0 0.003271 0 31 6 NANS 54187 broad.mit.edu 37 9 100845193 100845193 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:100845193C>T uc004ayb.2 + 7 1578 c.936C>T c.(934-936)CTC>CTT p.L312L NANS_uc004ayc.2_Silent_p.L312L|TRIM14_uc004ayd.2_Intron|TRIM14_uc004ayf.1_Intron NM_018946 NP_061819 Q9NR45 SIAS_HUMAN N-acetylneuraminic acid phosphate synthase 312 AFP-like. lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) TGGACATGCTCACCGTGAAGG 0.493 NaN 0 0 0 0.004289 0 32 5 SPTAN1 6709 broad.mit.edu 37 9 131342008 131342008 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:131342008G>A uc004bvl.3 + 10 1427 c.1314G>A c.(1312-1314)GTG>GTA p.V438V SPTAN1_uc011mbg.1_Silent_p.V438V|SPTAN1_uc011mbh.1_Silent_p.V450V|SPTAN1_uc004bvm.3_Silent_p.V438V|SPTAN1_uc004bvn.3_Silent_p.V438V NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 438 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 CAGATGAAGTGAGGGAGAAGG 0.428 NaN 0 0 0 0.00499 0 15 1 OBP2B 29989 broad.mit.edu 37 9 136081794 136081794 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:136081794G>A uc004ccz.2 - 5 440 c.398C>T c.(397-399)TCT>TTT p.S133F OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.S65F NM_014581 NP_055396 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B precursor 133 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) GTTGGTATCAGAATTCCTACC 0.612 NaN 0 0 0 0.00333 0 23 5 CLCN4 1183 broad.mit.edu 37 X 10188910 10188910 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:10188910C>T uc004csy.3 + 12 2615 c.2185C>T c.(2185-2187)CGG>TGG p.R729W CLCN4_uc011mid.1_Missense_Mutation_p.R635W NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 729 CBS 2.|Cytoplasmic (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 CCTGGTGACGCGGAGCGGGTG 0.423 NaN 0 0 0 0.01441 0 47 4 FAM48B2 170067 broad.mit.edu 37 X 24330063 24330063 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:24330063C>G uc011mjw.1 - 1 1370 c.1370G>C c.(1369-1371)GGA>GCA p.G457A NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 457 0 ATGTTTCTCTCCCTTCCCGGA 0.547 NaN 0 0 0 0.008871 0 16 2 IL1RAPL1 11141 broad.mit.edu 37 X 29959767 29959767 + Splice_Site SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:29959767G>C uc004dby.2 + 9 1566 c.1058_splice c.e9-1 p.E353_splice NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TTTCTTTCTAGAGCTAATGTA 0.363 NaN 0 0 0 0.01441 0 99 5 KDM6A 7403 broad.mit.edu 37 X 44894182 44894182 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:44894182C>T uc004dge.3 + 7 946 c.571C>T c.(571-573)CAG>TAG p.Q191* KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q191*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mlc.1_5'UTR NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 191 TPR 3. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(2)|p.?(1) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 GCAGCATTTTCAGTTAGCTTT 0.343 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.01441 0 49 2 WDR13 64743 broad.mit.edu 37 X 48457331 48457331 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:48457331C>T uc004dkh.1 + 3 415 c.268C>T c.(268-270)CTT>TTT p.L90F WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.L90F|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 90 cytoplasm|nucleus ovary(2) 2 CCGCACTACTCTTGACCGCAT 0.522 NaN 0 0 0 0.003755 0 31 4 ITIH5L 347365 broad.mit.edu 37 X 54783589 54783589 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:54783589G>A uc004dtj.2 - 8 2948 c.2918C>T c.(2917-2919)TCC>TTC p.S973F NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 973 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TGTAGGCCTGGAGCTGTTGAG 0.572 NaN 0 0 0 0.005443 0 24 0 TEX11 56159 broad.mit.edu 37 X 70099855 70099855 + Nonsense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:70099855C>A uc004dyl.2 - 4 349 c.187G>T c.(187-189)GAA>TAA p.E63* TEX11_uc004dym.2_Nonsense_Mutation_p.E48* NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 63 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) TCTGTTATTTCAGCCATAGAC 0.313 NaN 1 0 9.31168e-06 0.001855 9.60389e-06 10 20 MED12 9968 broad.mit.edu 37 X 70360617 70360617 + Silent SNP A A G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:70360617A>G uc004dyy.2 + 42 6376 c.6177A>G c.(6175-6177)CAA>CAG p.Q2059Q MED12_uc004dyz.2_Silent_p.Q2058Q|MED12_uc004dza.2_Silent_p.Q1909Q|MED12_uc010nla.2_Silent_p.Q688Q NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 2059 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) aacagcagcaacagcaacagc 0.259 NaN 0 0 0 0.003163 0 9 22 PHKA1 5255 broad.mit.edu 37 X 71843049 71843049 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:71843049C>T uc004eax.3 - 18 2171 c.1870G>A c.(1870-1872)GAG>AAG p.E624K PHKA1_uc004eay.3_Missense_Mutation_p.E624K|PHKA1_uc011mqi.1_Missense_Mutation_p.E624K NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 624 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) AGCTTACCCTCAGGTCCAGGG 0.408 NaN 0 0 0 0.00874 0 38 1 WDR44 54521 broad.mit.edu 37 X 117566847 117566847 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:117566847C>T uc004eqn.2 + 13 2266 c.1841C>T c.(1840-1842)TCA>TTA p.S614L WDR44_uc004eqo.2_Missense_Mutation_p.S614L|WDR44_uc011mtr.1_Missense_Mutation_p.S589L|WDR44_uc010nqi.2_Missense_Mutation_p.S324L NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 614 WD 2. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 CTTGATCTTTCATGGTCTAAA 0.284 NaN 0 0 0 0.01441 0 47 4 STAG2 10735 broad.mit.edu 37 X 123197011 123197011 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:123197011C>T uc004etz.3 + 18 2116 c.1777C>T c.(1777-1779)CAG>TAG p.Q593* STAG2_uc004eua.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q593*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q593* NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 593 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GCAGTTGCCTCAGTACTTTGA 0.279 NaN 0 0 0 0.004656 0 20 2 ODZ1 10178 broad.mit.edu 37 X 124097480 124097480 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:124097480G>A uc004euj.2 - 1 187 c.123C>T c.(121-123)AAC>AAT p.N41N ODZ1_uc011muj.1_Silent_p.N41N|ODZ1_uc010nqy.2_Silent_p.N41N NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 41 Teneurin N-terminal.|Cytoplasmic (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 TCTCCCTGGAGTTGTATGACT 0.428 NaN 0 0 0 0.01441 0 55 77 HTATSF1 27336 broad.mit.edu 37 X 135593753 135593753 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:135593753G>C uc004ezw.2 + 10 2271 c.1849G>C c.(1849-1851)GAG>CAG p.E617Q HTATSF1_uc004ezx.2_Missense_Mutation_p.E617Q NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 617 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GGAAGGCTCTGAGAGAGAGTT 0.363 NaN 0 0 0 0.005524 0 33 5 GABRE 2564 broad.mit.edu 37 X 151123200 151123200 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:151123200G>C uc004ffi.2 - 9 1548 c.1494C>G c.(1492-1494)CTC>CTG p.L498L GABRE_uc011myd.1_RNA NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 498 Helical; (Potential). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CAAGCCAGTAGAGCACATTGA 0.547 NaN 0 0 0 0.010729 0 11 3 MAGEA10 4109 broad.mit.edu 37 X 151303448 151303448 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:151303448C>T uc004ffk.2 - 5 1053 c.645G>A c.(643-645)CTG>CTA p.L215L MAGEA10_uc004ffl.2_Silent_p.L215L NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 215 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GGACATCACTCAGCATCCCAT 0.522 NaN 0 0 0 0.01441 0 49 8 BGN 633 broad.mit.edu 37 X 152770152 152770152 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:152770152G>A uc004fhr.1 + 2 235 c.63G>A c.(61-63)CAG>CAA p.Q21Q BGN_uc004fhq.1_RNA NM_001711 NP_001702 P21810 PGS1_HUMAN biglycan preproprotein 21 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTTTGAGCAGAGAGGCTTCT 0.642 NaN 0 0 0 0.005524 0 34 1 BGN 633 broad.mit.edu 37 X 152770154 152770154 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:152770154G>A uc004fhr.1 + 2 237 c.65G>A c.(64-66)AGA>AAA p.R22K BGN_uc004fhq.1_RNA NM_001711 NP_001702 P21810 PGS1_HUMAN biglycan preproprotein 22 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTTGAGCAGAGAGGCTTCTGG 0.642 NaN 0 0 0 0.010771 0 39 1 TAF3 83860 broad.mit.edu 37 10 8051117 8051128 + In_Frame_Del DEL GCCCCCGCGCCC GCCCCCGCGCCC - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:8051117_8051128delGCCCCCGCGCCC uc010qbd.1 + 5 2392_2403 c.2392_2403delGCCCCCGCGCCC c.(2392-2403)GCCCCCGCGCCCdel p.APAP798del NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 798_801 Pro-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 cccaccgccggcccccgcgcccgcccccggcc 0.25 NaN NaN NaN NaN NaN NaN 10 41 --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:6867223_6867225delTTC uc001met.1 + 1 310_312 c.310_312delTTC c.(310-312)TTCdel p.F108del NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 NaN NaN NaN NaN NaN NaN 7 97 --- --- CASP5 838 broad.mit.edu 37 11 104879687 104879687 + Frame_Shift_Del DEL T T - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:104879687delT uc010rva.1 - 2 60 c.28delA c.(28-30)AGGfs p.R10fs CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 10 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTCTTACGCCTTTTTTTTTTG 0.388 NaN NaN NaN NaN NaN NaN 7 30 --- --- TP53 7157 broad.mit.edu 37 17 7577562 7577563 + Frame_Shift_Ins INS - - T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 - T - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:7577562_7577563insT uc002gim.2 - 7 912_913 c.718_719insA c.(718-720)AGTfs p.S240fs TP53_uc002gig.1_Frame_Shift_Ins_p.S240fs|TP53_uc002gih.2_Frame_Shift_Ins_p.S240fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.S108fs|TP53_uc010cng.1_Frame_Shift_Ins_p.S108fs|TP53_uc002gii.1_Frame_Shift_Ins_p.S108fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.S240fs|TP53_uc010cni.1_Frame_Shift_Ins_p.S240fs|TP53_uc002gij.2_Frame_Shift_Ins_p.S240fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Ins_p.S147fs|TP53_uc002gio.2_Frame_Shift_Ins_p.S108fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 240 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). S -> T (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> I (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.S240G(14)|p.S240R(8)|p.0?(7)|p.S240I(6)|p.N239_C242delNSSC(3)|p.S240C(3)|p.N239_S240insX(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.H233_C242del10(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239_C242del(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) CATGCAGGAACTGTTACACATG 0.574 111 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) NaN NaN NaN NaN NaN 71 19 --- --- SALL3 27164 broad.mit.edu 37 18 76752223 76752223 + Frame_Shift_Del DEL C C - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:76752223delC uc002lmt.2 + 2 232 c.232delC c.(232-234)CCCfs p.P78fs SALL3_uc010dra.2_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 78 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CAAGCTCCCGCCCGTGCTGAT 0.716 NaN NaN NaN NaN NaN NaN 26 18 --- --- DAZAP1 26528 broad.mit.edu 37 19 1434776 1434776 + Frame_Shift_Del DEL C C - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:1434776delC uc002lsn.2 + 12 1278 c.1089delC c.(1087-1089)TTCfs p.F363fs DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Frame_Shift_Del_p.F362fs|DAZAP1_uc002lsl.1_Frame_Shift_Del_p.F362fs NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 isoform b 363 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(1) 1 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) GACAGGGCTTCTCAGACCCCA 0.592 NaN NaN NaN NaN NaN NaN 48 67 --- --- LRG1 116844 broad.mit.edu 37 19 4538453 4538453 + Frame_Shift_Del DEL G G - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:4538453delG uc002mau.2 - 2 554 c.543delC c.(541-543)CCCfs p.P181fs PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 181 LRR 4. extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCAGCCCGGGGGGCAGTT 0.622 NaN NaN NaN NaN NaN NaN 7 264 --- --- SFRS16 11129 broad.mit.edu 37 19 45567607 45567609 + In_Frame_Del DEL CTC CTC - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:45567607_45567609delCTC uc002pak.2 + 13 1226_1228 c.1128_1130delCTC c.(1126-1131)CGCTCC>CGC p.S385del SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_In_Frame_Del_p.S323del|SFRS16_uc002pam.2_In_Frame_Del_p.S385del NM_007056 NP_008987 Q8N2M8 CLASR_HUMAN splicing factor, arginine/serine-rich 16 385 Ser-rich.|Arg-rich. mRNA processing|RNA splicing nucleus 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCAGCCGCCGctcctcctcctcc 0.522 NaN NaN NaN NaN NaN NaN 4 9 --- --- FGFR3 2261 broad.mit.edu 37 4 1808937 1808937 + Frame_Shift_Del DEL C C - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1808937delC uc003gdr.3 + 18 2625 c.2369delC c.(2368-2370)GCCfs p.A790fs FGFR3_uc003gdu.2_Frame_Shift_Del_p.A792fs|FGFR3_uc003gds.3_Frame_Shift_Del_p.A678fs|FGFR3_uc003gdq.3_Frame_Shift_Del_p.C767fs NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 790 Cytoplasmic (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TCCGTGTTTGCCCACGACCTG 0.687 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome NaN NaN NaN NaN NaN 265 83 --- --- GBA3 57733 broad.mit.edu 37 4 22748956 22748956 + Frame_Shift_Del DEL A A - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:22748956delA uc003gqp.3 + 3 415 c.324delA c.(322-324)TTAfs p.L108fs GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Frame_Shift_Del_p.L109fs NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 108 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 ATGATTTGTTAAAAAATGGGG 0.363 NaN NaN NaN NaN NaN NaN 12 208 --- --- LNX1 84708 broad.mit.edu 37 4 54342918 54342918 + Splice_Site DEL A A - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:54342918delA uc003hag.3 - 9 2148 c.1892_splice c.e9+1 p.R631_splice PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Splice_Site_p.R535_splice|LNX1_uc003hah.3_Splice_Site NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1 isoform a cytoplasm zinc ion binding ovary(2)|central_nervous_system(2) 4 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) GTTTGGACTTACCGTGGTAAT 0.532 NaN NaN NaN NaN NaN NaN 38 144 --- --- ELN 2006 broad.mit.edu 37 7 73477649 73477651 + In_Frame_Del DEL CCG CCG - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:73477649_73477651delCCG uc003tzw.2 + 28 1977_1979 c.1886_1888delCCG c.(1885-1890)CCCGCC>CCC p.A636del RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_In_Frame_Del_p.A630del|ELN_uc003tzz.2_In_Frame_Del_p.A549del|ELN_uc003tzo.2_In_Frame_Del_p.A582del|ELN_uc003tzp.2_In_Frame_Del_p.A541del|ELN_uc003tzq.2_In_Frame_Del_p.A494del|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_In_Frame_Del_p.A611del|ELN_uc003tzt.2_In_Frame_Del_p.A635del|ELN_uc003tzu.2_In_Frame_Del_p.A616del|ELN_uc003tzv.2_In_Frame_Del_p.A601del|ELN_uc003tzx.2_In_Frame_Del_p.A620del|ELN_uc011kff.1_In_Frame_Del_p.A630del|ELN_uc003tzy.2_In_Frame_Del_p.A606del NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 692 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) GGAGCCGGACccgccgccgccgc 0.512 NaN T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome NaN NaN NaN NaN NaN 2 4 --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:145617535_145617549delGGGGGTGCAAGGTGA uc003zch.2 + 12 1321 c.1267_splice c.e12+1 p.D423_splice ADCK5_uc003zcg.2_Intron|ADCK5_uc003zci.2_Splice_Site_p.D12_splice NM_174922 NP_777582 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 integral to membrane protein serine/threonine kinase activity stomach(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.66 NaN NaN NaN NaN NaN NaN 2 4 --- ---