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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PRAMEF16 654348 broad.mit.edu 37 1 13497721 13497721 + Missense_Mutation SNP C C G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:13497721C>G uc001aux.2 + 3 1048 c.1018C>G c.(1018-1020)CTT>GTT p.L340V NM_001045480 NP_001038945 Q5VWM1 PRA16_HUMAN PRAME family member 16 340 LRR 1. 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTTGAGCCCCTTGGAGCTCT 0.517 NA 29 62 0 0 0.004289 0 0 HNRNPR 10236 broad.mit.edu 37 1 23660011 23660011 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:23660011C>A uc001bgr.3 - 5 657 c.498G>T c.(496-498)GAG>GAT p.E166D HNRNPR_uc001bgp.3_Missense_Mutation_p.E166D|HNRNPR_uc009vqk.2_Missense_Mutation_p.E65D|HNRNPR_uc001bgs.3_Missense_Mutation_p.E65D|HNRNPR_uc010odw.1_Intron|HNRNPR_uc010odx.1_Missense_Mutation_p.E65D|HNRNPR_uc009vql.2_Intron NM_005826 NP_005817 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 166 RRM 1. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GAACACTTACCTCCGTTCCAA 0.448 NA 8 27 2.74318e-10 3.82769e-10 0.006214 1 0 ARID1A 8289 broad.mit.edu 37 1 27056169 27056169 + Nonsense_Mutation SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:27056169A>T uc001bmv.1 + 2 1538 c.1165A>T c.(1165-1167)AAG>TAG p.K389* ARID1A_uc001bmt.1_Nonsense_Mutation_p.K389*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.K389*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.K6* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 389 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCAGATGGGCAAGATGAGACC 0.507 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 21 66 0 0 0.00333 0 0 FNDC5 252995 broad.mit.edu 37 1 33333813 33333813 + Silent SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:33333813C>T uc001bwg.2 - 3 377 c.162G>A c.(160-162)GAG>GAA p.E54E FNDC5_uc001bwf.1_Silent_p.E54E NM_153756 NP_715637 Q8NAU1 FNDC5_HUMAN fibronectin type III domain containing 5 113 Extracellular (Potential). integral to membrane|peroxisomal membrane ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AGGCCATCTTCTCAGCCTCAC 0.602 NA 49 118 0 0 0.01441 0 0 CYP2J2 1573 broad.mit.edu 37 1 60377303 60377303 + Silent SNP A A G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:60377303A>G uc001czq.2 - 4 666 c.661T>C c.(661-663)TTG>CTG p.L221L NM_000775 NP_000766 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, 221 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity ovary(1) 1 all_cancers(7;0.000396) GAAGCCTCCAAGTATGTGACT 0.448 NA 9 51 0 0 0.010729 0 0 RBMXL1 494115 broad.mit.edu 37 1 89448581 89448581 + Missense_Mutation SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:89448581T>C uc009wcx.2 - 3 1645 c.929A>G c.(928-930)TAT>TGT p.Y310C CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.Y310C NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 310 Ser-rich. nucleotide binding|RNA binding 0 ATAATCATCATAGCGACTGCT 0.488 NA 42 112 0 0 0.01441 0 0 NTNG1 22854 broad.mit.edu 37 1 107973521 107973521 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:107973521G>A uc001dvh.3 + 6 1955 c.1237G>A c.(1237-1239)GAT>AAT p.D413N NTNG1_uc001dvf.3_Intron|NTNG1_uc010out.1_Intron|NTNG1_uc001dvc.3_Intron|NTNG1_uc001dvi.2_Intron|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_Intron|NTNG1_uc001dvg.2_Intron|NTNG1_uc009wem.2_Intron NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 413 Laminin EGF-like 2. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ACAACTGGACGATGAGAATGT 0.458 NA 7 20 0 0 0.008291 0 0 TBX15 6913 broad.mit.edu 37 1 119427455 119427455 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:119427455C>A uc001ehl.1 - 8 1706 c.1391G>T c.(1390-1392)AGC>ATC p.S464I TBX15_uc009whj.1_Missense_Mutation_p.S288I NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 570 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GGGTGAAGGGCTAATCATGTG 0.542 NA 19 39 2.35188e-11 3.30733e-11 0.006122 1 0 ADAR 103 broad.mit.edu 37 1 154574460 154574460 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:154574460C>A uc001ffh.2 - 2 858 c.658G>T c.(658-660)GCC>TCC p.A220S ADAR_uc001ffj.2_Missense_Mutation_p.A220S|ADAR_uc001ffi.2_Missense_Mutation_p.A220S|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 220 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GAGTTTGGGGCTCCTTGGCTA 0.527 NA 4 67 0.00307968 0.00328013 0.00308 1 0 ADAR 103 broad.mit.edu 37 1 154574475 154574475 + Missense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:154574475C>T uc001ffh.2 - 2 843 c.643G>A c.(643-645)GGT>AGT p.G215S ADAR_uc001ffj.2_Missense_Mutation_p.G215S|ADAR_uc001ffi.2_Missense_Mutation_p.G215S|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 215 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TGGCTATGACCGTCTGGTCTT 0.522 NA 4 74 0 0 0.006214 0 0 SPTA1 6708 broad.mit.edu 37 1 158627389 158627389 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:158627389G>T uc001fst.1 - 19 2882 c.2683C>A c.(2683-2685)CTT>ATT p.L895I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 895 Spectrin 9. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TTGGCTTCAAGATCATTTTGT 0.468 NA 28 136 1.836e-18 2.9246e-18 0.003755 1 0 USF1 7391 broad.mit.edu 37 1 161011631 161011631 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:161011631C>A uc001fxi.2 - 6 477 c.282G>T c.(280-282)GTG>GTT p.V94V F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Silent_p.V35V NM_007122 NP_009053 P22415 USF1_HUMAN upstream stimulatory factor 1 isoform 1 94 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CACCCTGGATCACCGCCTGGG 0.537 NA 34 37 9.45814e-24 1.6214e-23 0.004878 1 0 UCK2 7371 broad.mit.edu 37 1 165865506 165865506 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:165865506C>A uc001gdp.2 + 4 617 c.436C>A c.(436-438)CGA>AGA p.R146R UCK2_uc010plb.1_Intron NM_012474 NP_036606 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 146 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity ovary(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCAGGAGGTACGAGACCTGTT 0.547 NA 27 157 1.75199e-13 2.56388e-13 0.007291 1 0 RGS18 64407 broad.mit.edu 37 1 192127884 192127884 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:192127884C>A uc001gsg.2 + 1 293 c.117C>A c.(115-117)ATC>ATA p.I39I NM_130782 NP_570138 Q9NS28 RGS18_HUMAN regulator of G-protein signalling 18 39 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3) 3 AAGCCAAAATCAGGTAAAATT 0.279 NA 9 25 1.76689e-08 2.32147e-08 0.006214 1 0 CFHR4 10877 broad.mit.edu 37 1 196871712 196871712 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:196871712C>A uc001gto.2 + 2 292 c.223C>A c.(223-225)CAA>AAA p.Q75K CFHR4_uc009wyy.2_Missense_Mutation_p.Q74K|CFHR4_uc001gtp.2_Missense_Mutation_p.Q75K NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 75 Sushi 1. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 TCATTGCACACAAGATGGTTG 0.383 NA 41 74 2.24722e-20 3.71101e-20 0.01441 1 0 USH2A 7399 broad.mit.edu 37 1 215821947 215821947 + Silent SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:215821947T>C uc001hku.1 - 66 14892 c.14505A>G c.(14503-14505)CCA>CCG p.P4835P NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4835 Extracellular (Potential).|Fibronectin type-III 34. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCCCGATTTGTGGAGAGGACA 0.577 NA HNSCC(13;0.011) 15 42 0 0 0.007413 0 0 OBSCN 84033 broad.mit.edu 37 1 228505241 228505241 + Silent SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:228505241C>T uc009xez.1 + 52 13682 c.13638C>T c.(13636-13638)CCC>CCT p.P4546P OBSCN_uc001hsn.2_Silent_p.P4546P NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4546 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGGCAGCTCCCATGAGTGATG 0.662 NA 12 25 0 0 0.00245 0 0 ACTN2 88 broad.mit.edu 37 1 236891020 236891020 + Missense_Mutation SNP C C G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:236891020C>G uc001hyf.2 + 6 783 c.579C>G c.(577-579)CAC>CAG p.H193Q ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.H193Q NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 193 CH 2.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TCCACCGACACCGGCCTGACC 0.542 NA 11 65 0 0 0.010729 0 0 OR2M5 127059 broad.mit.edu 37 1 248309230 248309230 + Missense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr1:248309230C>T uc010pze.1 + 1 781 c.781C>T c.(781-783)CGG>TGG p.R261W NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CATGTACATACGGCCCACATC 0.517 NA 28 156 0 0 0.012213 0 0 AKR1C4 1109 broad.mit.edu 37 10 5255089 5255089 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:5255089C>A uc001ihw.2 + 7 846 c.813C>A c.(811-813)AGC>AGA p.S271R NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 271 NADP. androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) TGGCCAAGAGCTACAATGAGC 0.547 NA 16 44 1.15919e-05 1.329e-05 0.008871 1 0 TUBAL3 79861 broad.mit.edu 37 10 5435580 5435580 + Nonsense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:5435580C>T uc001ihy.2 - 4 1281 c.1241G>A c.(1240-1242)TGG>TAG p.W414* TUBAL3_uc001ihz.2_Nonsense_Mutation_p.W374* NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 414 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 TCTGAGGTACCAGTGCAGAAA 0.557 NA 8 25 0 0 0.00308 0 0 EPC1 80314 broad.mit.edu 37 10 32576084 32576084 + Missense_Mutation SNP T T C rs149122944 byFrequency TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:32576084T>C uc001iwg.1 - 7 1364 c.1094A>G c.(1093-1095)AAT>AGT p.N365S EPC1_uc001iwi.3_Missense_Mutation_p.N315S|EPC1_uc009xlt.2_Missense_Mutation_p.N315S|EPC1_uc001iwh.1_Missense_Mutation_p.N365S NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 365 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) ATCTTTAGCATTGAAGACTGG 0.473 NA 12 47 0 0 0.003163 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:37431050G>C uc001iza.1 + 7 1156 c.1057G>C c.(1057-1059)GCA>CCA p.A353P NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATTTACGTGGGCAGCAAAAGG 0.408 NA 3 46 0 0 0.009096 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820222 50820222 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:50820222G>T uc001jhw.2 + 1 1876 c.1436G>T c.(1435-1437)CGT>CTT p.R479L CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 479 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 ACGCGCTCCCGTTCCGAGCGC 0.657 NA 7 22 0.00198382 0.00212552 0.001984 1 0 PSD 5662 broad.mit.edu 37 10 104176511 104176511 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:104176511C>A uc001kvg.1 - 2 812 c.285G>T c.(283-285)GGG>GGT p.G95G PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.G95G|PSD_uc001kvi.1_Silent_p.G95G|FBXL15_uc001kvj.1_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 95 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AGCTCTGGGCCCCGGGTGGGG 0.657 NA 20 36 1.96895e-08 2.54972e-08 0.00278 1 0 PCGF6 84108 broad.mit.edu 37 10 105110554 105110554 + Silent SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:105110554C>T uc001kwt.2 - 1 338 c.270G>A c.(268-270)CTG>CTA p.L90L PCGF6_uc001kwu.2_Silent_p.L90L|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA NM_001011663 NP_001011663 Q9BYE7 PCGF6_HUMAN polycomb group ring finger 6 isoform a 90 Potential.|Glu-rich. negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1) 1 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) cttcctcctccagctcctctt 0.448 NA 2 3 0 0 0.004672 0 0 SORCS3 22986 broad.mit.edu 37 10 106737227 106737227 + Silent SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:106737227G>T uc001kyi.1 + 4 1157 c.930G>T c.(928-930)GTG>GTT p.V310V NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 310 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGGACTGGGTGCTGGCCTACA 0.443 NSCLC(116;1497 1690 7108 13108 14106) NA 8 22 3.07112e-06 3.66093e-06 0.010729 1 0 CHST15 51363 broad.mit.edu 37 10 125798150 125798150 + Silent SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:125798150G>T uc001lhl.2 - 4 1584 c.1071C>A c.(1069-1071)GCC>GCA p.A357A CHST15_uc001lhm.2_Silent_p.A357A|CHST15_uc001lhn.2_Silent_p.A357A|CHST15_uc010que.1_Silent_p.A357A|CHST15_uc001lho.2_Silent_p.A357A NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN B cell RAG associated protein 357 Lumenal (Potential). hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity ovary(1) 1 AGAACGTCCAGGCATTATTAT 0.547 NA 10 29 2.80697e-09 3.71511e-09 0.010729 1 0 STK32C 282974 broad.mit.edu 37 10 134040358 134040358 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr10:134040358C>A uc001lle.1 - 4 725 c.585G>T c.(583-585)CTG>CTT p.L195L STK32C_uc001lld.1_Silent_p.L78L|STK32C_uc010quu.1_Silent_p.L208L|STK32C_uc009ybc.1_Silent_p.L78L|STK32C_uc009ybd.1_Silent_p.L78L|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 195 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CGCAGATGTACAGCCTCACCG 0.627 NA 16 37 5.3912e-06 6.38432e-06 0.006122 1 0 CNGA4 1262 broad.mit.edu 37 11 6260686 6260686 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:6260686C>A uc001mco.2 + 2 242 c.135C>A c.(133-135)GTC>GTA p.V45V CNGA4_uc010raa.1_Silent_p.V5V|CNGA4_uc001mcn.2_Silent_p.V5V NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 45 Helical; Name=H1; (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCCCAGTCATGTATAACC 0.498 NA 35 92 1.67305e-13 2.46843e-13 0.00623 1 0 CKAP5 9793 broad.mit.edu 37 11 46772739 46772739 + Missense_Mutation SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:46772739T>C uc001ndi.1 - 40 5499 c.5389A>G c.(5389-5391)ATG>GTG p.M1797V CKAP5_uc009ylg.1_Missense_Mutation_p.M1690V|CKAP5_uc001ndj.1_Missense_Mutation_p.M1737V|CKAP5_uc001ndh.1_Missense_Mutation_p.M726V NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1797 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TGCTTCATCATCCGGCAGAGA 0.502 Ovarian(4;85 273 2202 4844 13323) NA 9 34 0 0 0.008291 0 0 OR4A16 81327 broad.mit.edu 37 11 55110862 55110862 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:55110862C>A uc010rie.1 + 1 186 c.186C>A c.(184-186)GCC>GCA p.A62A NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TCTTCCTTGCCTACTTGTCAC 0.428 NA 35 80 1.02591e-13 1.52614e-13 0.010771 1 0 OR8K5 219453 broad.mit.edu 37 11 55927730 55927730 + Nonsense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:55927730C>A uc010rja.1 - 1 64 c.64G>T c.(64-66)GAG>TAG p.E22* NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ATCTGCAGCTCAGGCCGCCTT 0.453 NA 20 50 1.96895e-08 2.54972e-08 0.00278 1 0 OR8H1 219469 broad.mit.edu 37 11 56058108 56058108 + Missense_Mutation SNP A A G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:56058108A>G uc010rje.1 - 1 431 c.431T>C c.(430-432)GTC>GCC p.V144A NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) GGGCCCAGTGACAAGAGCGCA 0.438 NA 7 24 0 0 0.00308 0 0 OR8K3 219473 broad.mit.edu 37 11 56086307 56086307 + Silent SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:56086307T>C uc010rjf.1 + 1 525 c.525T>C c.(523-525)AGT>AGC p.S175S NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ACGTCATTAGTCATTTCTACT 0.353 NA 16 27 0 0 0.008871 0 0 MS4A4A 51338 broad.mit.edu 37 11 60059762 60059762 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:60059762G>A uc001noz.2 + 2 116 c.106G>A c.(106-108)GGT>AGT p.G36S MS4A4A_uc001npa.2_Missense_Mutation_p.G17S|MS4A4A_uc001npb.2_Missense_Mutation_p.G17S|MS4A4A_uc001npc.2_Missense_Mutation_p.G17S NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 36 Cytoplasmic (Potential). integral to membrane receptor activity 0 GGCTGGCCCTGGTGTGCCCCA 0.488 NA 19 43 0 0 0.004656 0 0 NOX4 50507 broad.mit.edu 37 11 89069012 89069012 + Splice_Site SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:89069012C>A uc001pct.2 - 17 1855 c.1616_splice c.e17+1 p.G539_splice NOX4_uc009yvr.2_Splice_Site_p.G514_splice|NOX4_uc001pcu.2_Splice_Site_p.G465_splice|NOX4_uc001pcw.2_Splice_Site_p.G232_splice|NOX4_uc001pcx.2_Splice_Site_p.G192_splice|NOX4_uc001pcv.2_Splice_Site_p.G499_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.G352_splice|NOX4_uc009yvp.2_Splice_Site_p.G303_splice|NOX4_uc010rtv.1_Splice_Site_p.G475_splice|NOX4_uc009yvq.2_Splice_Site_p.G515_splice NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) ATAGTACTTACCCTCTGTTAT 0.274 NA 10 27 2.17888e-05 2.46665e-05 0.006214 1 0 FAT3 120114 broad.mit.edu 37 11 92085848 92085848 + Silent SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:92085848T>C uc001pdj.3 + 1 587 c.570T>C c.(568-570)AAT>AAC p.N190N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 190 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTGGTTCCAATGGAGAATTCT 0.403 NA TCGA Ovarian(4;0.039) 5 20 0 0 0.000602 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123483506 123483506 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:123483506G>A uc001pyx.2 + 14 1857 c.1528G>A c.(1528-1530)GGG>AGG p.G510R GRAMD1B_uc001pyw.2_Missense_Mutation_p.G517R|GRAMD1B_uc010rzw.1_Missense_Mutation_p.G470R|GRAMD1B_uc010rzx.1_Missense_Mutation_p.G470R|GRAMD1B_uc001pyy.2_Missense_Mutation_p.G201R NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 510 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) ACAGCCCTGGGGGTTAGTGAA 0.547 NA 4 13 0 0 0.001168 0 0 OPCML 4978 broad.mit.edu 37 11 132307171 132307171 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:132307171G>T uc001qgs.2 - 4 659 c.609C>A c.(607-609)AGC>AGA p.S203R OPCML_uc001qgu.2_Missense_Mutation_p.S196R|OPCML_uc010sck.1_Missense_Mutation_p.S203R|OPCML_uc001qgt.2_Missense_Mutation_p.S202R|OPCML_uc010scl.1_Missense_Mutation_p.S162R NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 203 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CGTTCAACGCGCTGCATTCGT 0.542 NA 13 41 2.27111e-07 2.85874e-07 0.013537 1 0 KCNA6 3742 broad.mit.edu 37 12 4920664 4920664 + Missense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:4920664C>T uc001qng.2 + 1 2323 c.1457C>T c.(1456-1458)GCG>GTG p.A486V NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 486 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 GGGCAGCCTGCGCCGGACCTG 0.612 NA HNSCC(72;0.22) 15 47 0 0 0.007413 0 0 PRR4 11272 broad.mit.edu 37 12 10999791 10999791 + Silent SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:10999791T>C uc001qyz.3 - 3 315 c.276A>G c.(274-276)CAA>CAG p.Q92Q PRR4_uc009zhp.2_Silent_p.Q105Q|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_Intron NM_007244 NP_009175 Q16378 PROL4_HUMAN proline rich 4 (lacrimal) isoform 2 92 Pro-rich. visual perception extracellular space 0 GGGGTGGTCGTTGCTGATTTT 0.542 NA 43 102 0 0 0.01441 0 0 PRB3 5544 broad.mit.edu 37 12 11420862 11420862 + Silent SNP T T G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:11420862T>G uc001qzs.2 - 3 359 c.321A>C c.(319-321)GGA>GGC p.G107G PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 107 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGGACTGGTTTCCTCCTTGTG 0.632 NA 4 219 0 0 0.001168 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 17 0.000602214 0.000649093 0.000602 1 0 BICD1 636 broad.mit.edu 37 12 32480566 32480566 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:32480566G>T uc001rku.2 + 5 1258 c.1177G>T c.(1177-1179)GGG>TGG p.G393W BICD1_uc001rkv.2_Missense_Mutation_p.G393W|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 393 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TGAGCTGGACGGGGAGAAGGG 0.582 NA 8 14 1.12685e-05 1.30021e-05 0.004482 1 0 GLI1 2735 broad.mit.edu 37 12 57861141 57861141 + Nonsense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:57861141C>A uc001snx.2 + 9 1016 c.938C>A c.(937-939)TCA>TAA p.S313* GLI1_uc009zpq.2_Nonsense_Mutation_p.S185* NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 313 C2H2-type 3. epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) AAGTCATACTCACGCCTCGAA 0.537 Pancreas(157;841 1936 10503 41495 50368) NA 12 39 5.50884e-06 6.39736e-06 0.013537 1 0 NAV3 89795 broad.mit.edu 37 12 78401020 78401020 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:78401020C>A uc001syp.2 + 8 1875 c.1702C>A c.(1702-1704)CCT>ACT p.P568T NAV3_uc001syo.2_Missense_Mutation_p.P568T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 568 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTTATCTAAGCCTATAACCAT 0.493 NA HNSCC(70;0.22) 17 20 5.35267e-07 6.59918e-07 0.007413 1 0 DCN 1634 broad.mit.edu 37 12 91550864 91550864 + Missense_Mutation SNP T T A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:91550864T>A uc001tbs.2 - 4 734 c.640A>T c.(640-642)AGC>TGC p.S214C DCN_uc001tbo.2_Missense_Mutation_p.S105C|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.S214C|DCN_uc001tbu.2_Missense_Mutation_p.S214C NM_133503 NP_598010 P07585 PGS2_HUMAN decorin isoform a preproprotein 214 LRR 7. organ morphogenesis extracellular space central_nervous_system(2)|ovary(1)|lung(1) 4 TGAGGAATGCTGGTGATATTG 0.378 NA 10 40 0 0 0.010729 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184568 130184568 + Missense_Mutation SNP G G C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:130184568G>C uc009zyl.1 - 2 1083 c.755C>G c.(754-756)ACA>AGA p.T252R NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 252 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ACTGTGGCCTGTCCGGATCCC 0.617 NA 18 48 0 0 0.012319 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287666 29287666 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr13:29287666G>A uc001usi.2 - 2 1181 c.211C>T c.(211-213)CGT>TGT p.R71C SLC46A3_uc001usg.2_Translation_Start_Site|SLC46A3_uc001usj.2_Missense_Mutation_p.R71C|SLC46A3_uc001ush.2_Missense_Mutation_p.R71C|SLC46A3_uc001usk.2_Translation_Start_Site NM_181785 NP_861450 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 isoform a 71 Extracellular (Potential). transmembrane transport integral to membrane central_nervous_system(1)|skin(1) 2 Lung SC(185;0.0367) all cancers(112;0.159) AGATTAAAACGTGACACTTTT 0.338 NA 4 29 0 0 0.000602 0 0 LOC220429 220429 broad.mit.edu 37 13 50464887 50464887 + Missense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr13:50464887C>T uc001vdk.2 + 1 343 c.161C>T c.(160-162)GCT>GTT p.A54V NR_003268 Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026). 0 GGATTTGTTGCTGTTCCCTTT 0.463 NA 3 6 0 0 0.009096 0 0 KLHL1 57626 broad.mit.edu 37 13 70681625 70681625 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr13:70681625C>A uc001vip.2 - 1 1001 c.207G>T c.(205-207)TGG>TGT p.W69C KLHL1_uc010thm.1_Missense_Mutation_p.W69C|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 69 Ser-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) aagGCTTCTTCCAGAAAGTGC 0.443 NA 22 36 4.72057e-08 6.06931e-08 0.003954 1 0 NALCN 259232 broad.mit.edu 37 13 101728293 101728293 + Splice_Site SNP C C G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr13:101728293C>G uc001vox.1 - 35 4075 c.3886_splice c.e35-1 p.N1296_splice NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TATATGCATTCTGAAATTTAA 0.313 NA 15 29 0 0 0.006122 0 0 CTSG 1511 broad.mit.edu 37 14 25043939 25043939 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr14:25043939G>A uc001wpq.2 - 3 318 c.281C>T c.(280-282)GCC>GTC p.A94V NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 94 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) GTGGCGGATGGCTCTGCGCGC 0.527 NA 16 42 0 0 0.00499 0 0 HEATR5A 25938 broad.mit.edu 37 14 31777181 31777181 + Missense_Mutation SNP A A G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr14:31777181A>G uc001wrf.3 - 24 3934 c.3857T>C c.(3856-3858)ATG>ACG p.M1286T HEATR5A_uc010ami.2_Missense_Mutation_p.M1184T NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1573 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TATGCTTTCCATGGTTGCATC 0.393 NA 4 6 0 0 0.001168 0 0 CLMN 79789 broad.mit.edu 37 14 95669278 95669278 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr14:95669278C>A uc001yef.2 - 9 2524 c.2408G>T c.(2407-2409)GGT>GTT p.G803V NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 803 integral to membrane actin binding 0 Epithelial(152;0.193) ACCCACACCACCCCTGCTGAG 0.627 NA 18 32 2.4624e-09 3.3077e-09 0.008871 1 0 C15orf2 23742 broad.mit.edu 37 15 24923451 24923451 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr15:24923451G>T uc001ywo.2 + 1 2911 c.2437G>T c.(2437-2439)GCA>TCA p.A813S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 813 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGCCTCTGCAGCATCGTTATC 0.522 NA 39 74 7.05121e-23 1.18619e-22 0.010771 1 0 GABPB1 2553 broad.mit.edu 37 15 50581768 50581768 + Silent SNP T T A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr15:50581768T>A uc001zyb.2 - 7 1255 c.831A>T c.(829-831)ACA>ACT p.T277T GABPB1_uc001zya.2_Silent_p.T265T|GABPB1_uc010ufg.1_Silent_p.T201T|GABPB1_uc001zyc.2_Silent_p.T265T|GABPB1_uc001zyd.2_Silent_p.T265T|GABPB1_uc001zye.2_Silent_p.T277T|GABPB1_uc001zyf.2_Silent_p.T264T NM_005254 NP_005245 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta 277 Transcription activation and HCFC1 interaction. positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1) 1 GAATTCCATCTGTAACTATTG 0.448 NA 16 48 0 0 0.006122 0 0 ABCC1 4363 broad.mit.edu 37 16 16149958 16149958 + Missense_Mutation SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr16:16149958A>T uc010bvi.2 + 12 1658 c.1483A>T c.(1483-1485)ATG>TTG p.M495L ABCC1_uc010bvj.2_Missense_Mutation_p.M495L|ABCC1_uc010bvk.2_Missense_Mutation_p.M495L|ABCC1_uc010bvl.2_Missense_Mutation_p.M495L|ABCC1_uc010bvm.2_Missense_Mutation_p.M495L|ABCC1_uc002del.3_Missense_Mutation_p.M379L|ABCC1_uc010bvn.2_Missense_Mutation_p.M358L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 495 Cytoplasmic.|ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGTGGCCCACATGAAGAGCAA 0.473 NA 4 35 0 0 0.009096 0 0 MAZ 4150 broad.mit.edu 37 16 29818879 29818879 + Missense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr16:29818879C>T uc002dty.2 + 2 941 c.773C>T c.(772-774)GCC>GTC p.A258V uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.A235V|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.A258V|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_5'UTR|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 258 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 GGCGGCGCTGCCGCAGTGGCC 0.721 Colon(72;875 1167 15364 30899 37091) NA 4 5 0 0 0.009096 0 0 MYH1 4619 broad.mit.edu 37 17 10415801 10415801 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr17:10415801C>A uc002gmo.2 - 12 1165 c.1071G>T c.(1069-1071)GGG>GGT p.G357G uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 357 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GCATCACAGCCCCTGTGAGCT 0.453 NA 13 36 0.000151284 0.000167063 0.001855 1 0 DSG4 147409 broad.mit.edu 37 18 28989467 28989467 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr18:28989467C>A uc002kwq.2 + 13 2121 c.1986C>A c.(1984-1986)GGC>GGA p.G662G DSG4_uc002kwr.2_Silent_p.G662G NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 662 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGCCAGAAGGCCTGGGAACAA 0.532 NA 36 40 3.3946e-10 4.70021e-10 0.005524 1 0 THEG 51298 broad.mit.edu 37 19 375671 375671 + Silent SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:375671A>T uc002lol.2 - 1 339 c.300T>A c.(298-300)CCT>CCA p.P100P THEG_uc002lom.2_Silent_p.P100P NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 100 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTGATTTCAGGAATGTCCT 0.662 NA 17 90 0 0 0.008871 0 0 MUC16 94025 broad.mit.edu 37 19 8997417 8997417 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:8997417C>A uc002mkp.2 - 59 41209 c.41005G>T c.(41005-41007)GGC>TGC p.G13669C MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G486C|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13671 Extracellular (Potential).|SEA 11. Missing (in Ref. 3; AAK74120). 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 CTTACCAGGCCCTGAAGGACC 0.552 NA 31 61 6.70999e-13 9.7403e-13 0.004289 1 0 MUC16 94025 broad.mit.edu 37 19 9015723 9015723 + Silent SNP C C T rs144233170 by1000genomes TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:9015723C>T uc002mkp.2 - 29 38304 c.38100G>A c.(38098-38100)CCG>CCA p.P12700P MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12702 SEA 5.|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 TGAGGGTGAACGGCACCAGGA 0.468 NA 5 141 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9060180 9060180 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:9060180G>T uc002mkp.2 - 3 27470 c.27266C>A c.(27265-27267)ACA>AAA p.T9089K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9091 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 ACCCCTTGATGTAGCCCCAGG 0.478 NA 10 58 6.40141e-05 7.11268e-05 0.010729 1 0 COL5A3 50509 broad.mit.edu 37 19 10102481 10102481 + Nonsense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:10102481C>A uc002mmq.1 - 23 2016 c.1930G>T c.(1930-1932)GGA>TGA p.G644* NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 644 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCATGGTTTCCCTGCTGTCCC 0.552 NA 19 52 1.10923e-09 1.51259e-09 0.00278 1 0 ZNF491 126069 broad.mit.edu 37 19 11916992 11916992 + Missense_Mutation SNP A A G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:11916992A>G uc002mso.1 + 3 509 c.224A>G c.(223-225)TAT>TGT p.Y75C NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GAGAAGCCATATAAACATAAA 0.393 NA 8 20 0 0 0.006214 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794303 15794303 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:15794303G>T uc002nbl.2 + 7 709 c.648G>T c.(646-648)GAG>GAT p.E216D 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) TGCTCTGCAGGAGGCCCAGTG 0.517 NA 20 58 4.26978e-12 6.09968e-12 0.00333 1 0 EPS15L1 58513 broad.mit.edu 37 19 16504811 16504811 + Silent SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:16504811G>A uc002ndz.1 - 18 1923 c.1917C>T c.(1915-1917)GGC>GGT p.G639G EPS15L1_uc002ndx.2_Silent_p.G639G|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.G529G|EPS15L1_uc010xpf.1_Silent_p.G542G|EPS15L1_uc002nea.1_Silent_p.G639G|EPS15L1_uc010eah.1_Silent_p.G641G NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 639 15 X 3 AA repeats of D-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 GGAACGGGTCGCCTGGTTGGA 0.547 NA 28 53 0 0 0.007835 0 0 UNC13A 23025 broad.mit.edu 37 19 17778956 17778956 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:17778956C>A uc002nhd.2 - 7 702 c.702G>T c.(700-702)GAG>GAT p.E234D NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 146 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CATTGAGCTGCTCCAGCTTCT 0.557 NA 8 20 6.40141e-05 7.11268e-05 0.010729 1 0 ZNF257 113835 broad.mit.edu 37 19 22256306 22256306 + Missense_Mutation SNP C C G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:22256306C>G uc010ecx.2 + 3 335 c.166C>G c.(166-168)CTG>GTG p.L56V ZNF257_uc010ecy.2_Missense_Mutation_p.L24V NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GATCACCTGTCTGGAGCAAGG 0.423 NA 22 69 0 0 0.007291 0 0 CCDC8 83987 broad.mit.edu 37 19 46914959 46914959 + Missense_Mutation SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:46914959T>C uc002pep.2 - 1 1961 c.1109A>G c.(1108-1110)GAG>GGG p.E370G NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 370 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) AGCTGGGGCCTCTGCCCTCTG 0.607 NA 4 103 0 0 0.009096 0 0 DHDH 27294 broad.mit.edu 37 19 49438276 49438276 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:49438276G>T uc002ple.1 + 2 150 c.110G>T c.(109-111)CGC>CTC p.R37L NM_014475 NP_055290 Q9UQ10 DHDH_HUMAN dimeric dihydrodiol dehydrogenase 37 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) GTGGCGGCCCGCGATCTGAGC 0.632 NA 3 3 0.00024832 0.000272546 0.009096 1 0 SIGLEC12 89858 broad.mit.edu 37 19 52003556 52003556 + Splice_Site SNP T T A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:52003556T>A uc002pwx.1 - 2 484 c.428_splice c.e2-1 p.A143_splice SIGLEC12_uc002pww.1_Silent_p.T24T|SIGLEC12_uc010eoy.1_Intron NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCTGGGACGCTGTGGAGAAAC 0.602 NA 16 34 0 0 0.008871 0 0 LILRB2 10288 broad.mit.edu 37 19 54782278 54782278 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:54782278G>T uc002qfb.2 - 7 1360 c.1094C>A c.(1093-1095)CCA>CAA p.P365Q LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P365Q|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P365Q|LILRB2_uc010yet.1_Missense_Mutation_p.P249Q|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 365 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TAGACGGAGTGGGGCATCAGC 0.582 NA 36 90 2.00842e-17 3.14361e-17 0.010771 1 0 ZNF776 284309 broad.mit.edu 37 19 58265941 58265941 + Silent SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr19:58265941T>C uc002qpx.2 + 3 1666 c.1443T>C c.(1441-1443)ATT>ATC p.I481I ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.I481I NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 481 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) ATCAGCAGATTCACTCTGGAG 0.448 NA 3 52 0 0 0.009096 0 0 LTBP1 4052 broad.mit.edu 37 2 33572462 33572462 + Silent SNP G G C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:33572462G>C uc002ros.2 + 26 3888 c.3888G>C c.(3886-3888)GGG>GGC p.G1296G LTBP1_uc002rot.2_Silent_p.G970G|LTBP1_uc002rou.2_Silent_p.G969G|LTBP1_uc002rov.2_Silent_p.G916G|LTBP1_uc010ymz.1_Silent_p.G927G|LTBP1_uc010yna.1_Silent_p.G874G|LTBP1_uc010ynb.1_Silent_p.G193G NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1295 EGF-like 14; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGCTCAGTGGGGTGTGTGGTG 0.517 NA 20 37 0 0 0.00333 0 0 STRN 6801 broad.mit.edu 37 2 37088298 37088298 + Missense_Mutation SNP T T C rs112595766 TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:37088298T>C uc002rpn.2 - 13 1655 c.1646A>G c.(1645-1647)AAC>AGC p.N549S STRN_uc010ezx.2_Missense_Mutation_p.N512S NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 549 WD 2. dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) GGGGTCGATGTTGGGATTAGT 0.403 NA 12 34 0 0 0.006122 0 0 ZEB2 9839 broad.mit.edu 37 2 145147526 145147526 + Nonsense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:145147526G>T uc002tvu.2 - 10 3617 c.3137C>A c.(3136-3138)TCA>TAA p.S1046* ZEB2_uc002tvv.2_Nonsense_Mutation_p.S1040*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.S1017*|ZEB2_uc010fnp.2_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 1046 C2H2-type 6. cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GTGAAGCCTTGAGTGCTCGAT 0.478 Melanoma(33;1235 1264 5755 16332) NA 10 29 2.80697e-09 3.71511e-09 0.010729 1 0 KCNJ3 3760 broad.mit.edu 37 2 155711395 155711395 + Missense_Mutation SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:155711395A>T uc002tyv.1 + 3 1271 c.1076A>T c.(1075-1077)AAA>ATA p.K359I KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 359 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) TACAGTGTGAAAGAGCAGGAG 0.413 NA 17 45 0 0 0.00499 0 0 ACVR1C 130399 broad.mit.edu 37 2 158406754 158406754 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:158406754C>A uc002tzk.3 - 4 938 c.695G>T c.(694-696)TGG>TTG p.W232L ACVR1C_uc002tzl.3_Missense_Mutation_p.W152L|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.W182L NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 232 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 CTCACGAAACCAAGATCTTTC 0.428 NA 16 44 2.4624e-09 3.3077e-09 0.008871 1 0 PDE11A 50940 broad.mit.edu 37 2 178682641 178682641 + Missense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:178682641C>T uc002ulq.2 - 8 1906 c.1588G>A c.(1588-1590)GTG>ATG p.V530M PDE11A_uc002ulp.2_Missense_Mutation_p.V86M|PDE11A_uc002ulr.2_Missense_Mutation_p.V280M|PDE11A_uc002uls.1_Missense_Mutation_p.V172M|PDE11A_uc002ult.1_Missense_Mutation_p.V280M|PDE11A_uc002ulu.1_Missense_Mutation_p.V172M NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 530 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CTGTTTAACACTTGAGCCACT 0.378 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 5 23 0 0 0.00308 0 0 MARS2 92935 broad.mit.edu 37 2 198570447 198570447 + Silent SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:198570447G>T uc002uuq.2 + 1 361 c.318G>T c.(316-318)GCG>GCT p.A106A uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 106 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) CAGCTACCGCGGGCCTGGCCC 0.662 NA 15 26 2.23348e-06 2.69817e-06 0.004007 1 0 EPHA4 2043 broad.mit.edu 37 2 222294680 222294680 + Silent SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:222294680G>T uc002vmq.2 - 15 2730 c.2688C>A c.(2686-2688)TCC>TCA p.S896S EPHA4_uc002vmr.2_Silent_p.S896S|EPHA4_uc010zlm.1_Silent_p.S837S|EPHA4_uc010zln.1_Silent_p.S896S NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 896 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TGGCTGACCTGGAGCTCTCCG 0.488 NA 41 90 5.82388e-19 9.35981e-19 0.01441 1 0 SLC19A3 80704 broad.mit.edu 37 2 228552263 228552263 + Silent SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:228552263T>C uc002vpi.2 - 6 1430 c.1341A>G c.(1339-1341)GCA>GCG p.A447A SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Silent_p.A443A NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 447 Helical; (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CAGCAATTACTGCAAAATAGC 0.353 NA 7 19 0 0 0.004482 0 0 KIF1A 547 broad.mit.edu 37 2 241724433 241724433 + Missense_Mutation SNP G G C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr2:241724433G>C uc002vzy.2 - 7 839 c.693C>G c.(691-693)GAC>GAG p.D231E KIF1A_uc010fzk.2_Missense_Mutation_p.D231E|KIF1A_uc002vzz.1_Missense_Mutation_p.D231E NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 231 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGGTCTCTGCGTCATGGCGCT 0.607 NA 26 89 0 0 0.012213 0 0 JPH2 57158 broad.mit.edu 37 20 42788419 42788419 + Silent SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr20:42788419G>A uc002xli.1 - 2 1881 c.1008C>T c.(1006-1008)CGC>CGT p.R336R NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 336 MORN 8.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGCCCTCCTCGCGGTGGCCGT 0.657 NA 10 27 0 0 0.013537 0 0 B4GALT5 9334 broad.mit.edu 37 20 48273160 48273160 + Nonsense_Mutation SNP A A C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr20:48273160A>C uc002xuu.3 - 2 389 c.195T>G c.(193-195)TAT>TAG p.Y65* NM_004776 NP_004767 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 65 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) GCACCTGCTCATAAACCTGAG 0.468 NA 12 46 0 0 0.001855 0 0 NCF4 4689 broad.mit.edu 37 22 37266471 37266471 + Silent SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr22:37266471G>T uc003apy.3 + 5 541 c.357G>T c.(355-357)CTG>CTT p.L119L NCF4_uc003apz.3_Silent_p.L119L NM_000631 NP_000622 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4 isoform 1 119 PX. cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity ovary(1) 1 TGCTCAGCCTGCCGGTCTGGG 0.637 NA 17 36 6.44725e-10 8.85882e-10 0.014323 1 0 EIF3L 51386 broad.mit.edu 37 22 38259297 38259297 + Missense_Mutation SNP C C G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr22:38259297C>G uc003auf.2 + 7 611 c.524C>G c.(523-525)CCC>CGC p.P175R EIF3L_uc003aue.1_Missense_Mutation_p.P175R|EIF3L_uc011ann.1_Intron|EIF3L_uc003aug.2_Missense_Mutation_p.P67R NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 175 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 GGTCCTGCTCCCCTTGAACTA 0.463 NA 21 39 0 0 0.00632 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41734353 41734353 + Missense_Mutation SNP G G C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr22:41734353G>C uc003azw.2 + 8 835 c.619G>C c.(619-621)GAA>CAA p.E207Q ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 207 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 AGATGACATCGAAACAGGTAA 0.607 NA 4 10 0 0 0.001984 0 0 MPPED1 758 broad.mit.edu 37 22 43870629 43870629 + Silent SNP C C T rs139800936 by1000genomes TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr22:43870629C>T uc011apv.1 + 4 643 c.420C>T c.(418-420)TAC>TAT p.Y140Y MPPED1_uc011apw.1_Silent_p.Y34Y|MPPED1_uc011apx.1_Translation_Start_Site|MPPED1_uc011apy.1_Silent_p.Y140Y|MPPED1_uc011apz.1_Silent_p.Y173Y NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 140 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) GCCTGCCCTACGAGTACAAGA 0.582 NA 4 83 0 0 0.009096 0 0 MPPED1 758 broad.mit.edu 37 22 43870650 43870650 + Silent SNP A A G rs143130815 by1000genomes TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr22:43870650A>G uc011apv.1 + 4 664 c.441A>G c.(439-441)GCA>GCG p.A147A MPPED1_uc011apw.1_Silent_p.A41A|MPPED1_uc011apx.1_5'UTR|MPPED1_uc011apy.1_Silent_p.A147A|MPPED1_uc011apz.1_Silent_p.A180A NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 147 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) TCGTGATCGCAGGCAACCACG 0.562 NA 4 113 0 0 0.009096 0 0 LRRC2 79442 broad.mit.edu 37 3 46593050 46593050 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr3:46593050G>A uc010hji.2 - 2 396 c.32C>T c.(31-33)TCT>TTT p.S11F LRRC2_uc003cpu.3_Missense_Mutation_p.S11F NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 11 ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) TCTGATGACAGAAATGTCGAA 0.413 NA 9 38 0 0 0.010729 0 0 COL7A1 1294 broad.mit.edu 37 3 48622506 48622506 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr3:48622506G>A uc003ctz.2 - 32 3939 c.3938C>T c.(3937-3939)GCC>GTC p.A1313V NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1313 Triple-helical region.|Interrupted collagenous region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGATTCCCGGCGCGGCCAGG 0.682 NA 8 8 0 0 0.010729 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50685429 50685429 + Missense_Mutation SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr3:50685429A>T uc003day.1 + 13 1697 c.1101A>T c.(1099-1101)AAA>AAT p.K367N MAPKAPK3_uc003daz.1_Missense_Mutation_p.K367N|MAPKAPK3_uc003dba.1_Missense_Mutation_p.K367N|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.K367N NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 367 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGAGGAGAAAAAAGCAGGCAG 0.552 NA 6 23 0 0 0.001984 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125843207 125843207 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr3:125843207C>A uc003eim.1 - 16 2078 c.1888G>T c.(1888-1890)GGC>TGC p.G630C ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G529C NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 630 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TGGCTCTTACCAGATCCTGGG 0.592 NA 20 85 1.50039e-11 2.12654e-11 0.012319 1 0 SLC9A9 285195 broad.mit.edu 37 3 143513867 143513867 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr3:143513867G>A uc003evn.2 - 4 691 c.509C>T c.(508-510)ACT>ATT p.T170I SLC9A9_uc011bnk.1_Missense_Mutation_p.T44I NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 170 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 GGAGATGGCAGTTCCCAAGAA 0.418 NA 3 71 0 0 0.000602 0 0 BCHE 590 broad.mit.edu 37 3 165548239 165548239 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr3:165548239C>A uc003fem.3 - 2 743 c.583G>T c.(583-585)GGT>TGT p.G195C BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 195 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TCAAATAAACCCATGTTCCCT 0.443 NA 10 19 0.00829132 0.0086268 0.008291 1 0 SLC2A2 6514 broad.mit.edu 37 3 170732306 170732306 + Missense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr3:170732306C>T uc003fhe.1 - 3 632 c.323G>A c.(322-324)GGA>GAA p.G108E SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_Intron NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 108 Helical; Name=2; (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) TGCAGTCATTCCACCAACTGC 0.448 NA 35 56 0 0 0.00874 0 0 ZNF639 51193 broad.mit.edu 37 3 179051622 179051622 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr3:179051622G>T uc003fjq.1 + 6 1213 c.870G>T c.(868-870)TGG>TGT p.W290C ZNF639_uc003fjr.1_Missense_Mutation_p.W290C NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 290 C2H2-type 4. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ACCTCTATTGGTGTGAACAGT 0.418 NA 30 53 2.20474e-14 3.3919e-14 0.003755 1 0 LMLN 89782 broad.mit.edu 37 3 197751542 197751542 + Silent SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr3:197751542C>T uc011buo.1 + 14 1561 c.1539C>T c.(1537-1539)AAC>AAT p.N513N LMLN_uc003fyt.2_Silent_p.N498N|LMLN_uc010iar.2_Silent_p.N550N|LMLN_uc010ias.2_Silent_p.N461N|LMLN_uc003fyu.2_Silent_p.N310N NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 513 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) TTTTTAAGAACTATGGCGCTG 0.373 NA 7 13 0 0 0.00308 0 0 ZNF721 170960 broad.mit.edu 37 4 436574 436574 + Missense_Mutation SNP T T A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr4:436574T>A uc003gag.2 - 3 2373 c.1682A>T c.(1681-1683)GAA>GTA p.E561V ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.E593V|ZNF721_uc010ibe.2_Missense_Mutation_p.E549V NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 561 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TTTGCCACATTCTTCACATGT 0.413 NA 5 82 0 0 0.000602 0 0 BST1 683 broad.mit.edu 37 4 15716986 15716986 + Splice_Site SNP T T A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr4:15716986T>A uc003goh.3 + 5 806 c.611_splice c.e5+2 p.G204_splice BST1_uc003goi.2_Splice_Site_p.G15_splice NM_004334 NP_004325 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 precursor humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1) 1 CATCAAAGGGTAAGAACACCA 0.393 NA 5 25 0 0 0.001984 0 0 ANK2 287 broad.mit.edu 37 4 114275061 114275061 + Missense_Mutation SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr4:114275061A>T uc003ibe.3 + 38 5387 c.5287A>T c.(5287-5289)ATT>TTT p.I1763F ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.I1778F NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1730 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGAAACTCCCATTGGTTCCAT 0.473 NA 55 121 0 0 0.01441 0 0 PCDH18 54510 broad.mit.edu 37 4 138451547 138451547 + Missense_Mutation SNP T T C rs149770317 TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr4:138451547T>C uc003ihe.3 - 1 2083 c.1696A>G c.(1696-1698)ATC>GTC p.I566V PCDH18_uc003ihf.3_Missense_Mutation_p.I559V|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.I346V|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 566 Extracellular (Potential).|Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TCGTCAATGATGGTGAGCACA 0.453 NA 33 81 0 0 0.00623 0 0 ASB5 140458 broad.mit.edu 37 4 177142395 177142395 + Missense_Mutation SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr4:177142395A>T uc003iuq.1 - 5 597 c.581T>A c.(580-582)GTT>GAT p.V194D ASB5_uc003iup.1_Missense_Mutation_p.V141D NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 194 ANK 4. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TTCTTGGTCAACATCTATGCC 0.438 NA 14 39 0 0 0.00499 0 0 ZNF622 90441 broad.mit.edu 37 5 16463792 16463793 + Missense_Mutation DNP CG CG AA TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:16463792_16463793CG>AA uc003jfq.2 - 2 804_805 c.684_685CG>TT c.(682-687)GACGAT>GATTAT p.D229Y NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 229 Glu-rich. cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TCCACCACATCGTCCATTGCTT 0.446 NA 40 213 0 0 0.004672 0 0 FAM134B 54463 broad.mit.edu 37 5 16616835 16616835 + Silent SNP G G C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:16616835G>C uc003jfs.2 - 1 284 c.246C>G c.(244-246)CGC>CGG p.R82R NM_001034850 NP_001030022 Q9H6L5 F134B_HUMAN hypothetical protein LOC54463 isoform 1 82 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 GCTCGTCGGCGCGGCAGCCCA 0.617 NA 3 1 0 0 0.000602 0 0 PRDM9 56979 broad.mit.edu 37 5 23527693 23527693 + Silent SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:23527693T>C uc003jgo.2 + 11 2678 c.2496T>C c.(2494-2496)TAT>TAC p.Y832Y NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 832 C2H2-type 13. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAAGCCCTATGTCTGCAGGG 0.587 NA HNSCC(3;0.000094) 7 141 0 0 0.001984 0 0 SPEF2 79925 broad.mit.edu 37 5 35700661 35700661 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:35700661G>T uc003jjo.2 + 16 2316 c.2205G>T c.(2203-2205)CAG>CAT p.Q735H SPEF2_uc003jjq.3_Missense_Mutation_p.Q730H|SPEF2_uc003jjp.1_Missense_Mutation_p.Q221H NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 735 Potential. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACCAAGCACAGCTTCTGGAAG 0.383 NA 20 14 8.10497e-08 1.02739e-07 0.010504 1 0 VCAN 1462 broad.mit.edu 37 5 82816757 82816757 + Missense_Mutation SNP A A G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:82816757A>G uc003kii.3 + 7 2988 c.2632A>G c.(2632-2634)AAA>GAA p.K878E VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.K878E|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 878 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGCCCATGGAAAATTCACAAT 0.373 NA 19 63 0 0 0.00278 0 0 CAMK4 814 broad.mit.edu 37 5 110782425 110782425 + Silent SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:110782425A>T uc011cvj.1 + 7 600 c.501A>T c.(499-501)CCA>CCT p.P167P CAMK4_uc003kpf.2_Silent_p.P167P|CAMK4_uc010jbv.2_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 167 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ATCTCAAACCAGAGAATCTTC 0.368 NA 16 35 0 0 0.014323 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626445 140626445 + Silent SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:140626445C>A uc003lje.2 + 1 1299 c.1299C>A c.(1297-1299)ACC>ACA p.T433T NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 433 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTGAAAACCGAGCAGAGCA 0.577 NA 24 57 4.26978e-12 6.09968e-12 0.00333 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140810956 140810956 + Silent SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:140810956G>T uc003lkt.1 + 1 799 c.630G>T c.(628-630)CTG>CTT p.L210L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L210L NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 210 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCACCACCTGGTCCTTACGG 0.622 NA 23 37 0.00465635 0.0048893 0.004656 1 0 ARSI 340075 broad.mit.edu 37 5 149677134 149677134 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:149677134G>T uc003lrv.2 - 2 1942 c.1353C>A c.(1351-1353)AAC>AAA p.N451K NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 451 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCGTTCCAGGTTCCACCAGC 0.632 NA 12 23 6.31663e-08 8.06378e-08 0.003163 1 0 NPM1 4869 broad.mit.edu 37 5 170818327 170818327 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:170818327G>T uc011dex.1 + 4 292 c.157G>T c.(157-159)GCA>TCA p.A53S NPM1_uc003mbh.2_Missense_Mutation_p.A53S|NPM1_uc003mbi.2_Missense_Mutation_p.A53S|NPM1_uc003mbj.2_Missense_Mutation_p.A53S NM_002520 NP_002511 P06748 NPM_HUMAN nucleophosmin 1 isoform 1 53 Necessary for interaction with APEX1.|Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding NPM1/ALK(632) haematopoietic_and_lymphoid_tissue(3109)|skin(1) 3110 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGGGGCTGGTGCAAAGGATGA 0.383 NA T|F ALK|RARA|MLF1 NHL|APL|AML 29 38 6.00712e-18 9.48493e-18 0.012213 1 0 HRH2 3274 broad.mit.edu 37 5 175110541 175110541 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:175110541G>T uc003mdd.2 + 1 2078 c.305G>T c.(304-306)TGC>TTC p.C102F HRH2_uc003mdc.3_Missense_Mutation_p.C102F NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 102 Helical; Name=3; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GTGATGCTCTGCACAGCCTCC 0.567 NA 12 34 5.50884e-06 6.39736e-06 0.013537 1 0 GRM6 2916 broad.mit.edu 37 5 178418469 178418469 + Silent SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr5:178418469G>T uc003mjr.2 - 3 992 c.813C>A c.(811-813)CCC>CCA p.P271P GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 271 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CCCGGGCGTTGGGCGTCTCCA 0.597 NA 32 79 6.05902e-23 1.02889e-22 0.003755 1 0 ITPR3 3710 broad.mit.edu 37 6 33658712 33658712 + Missense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr6:33658712C>T uc011drk.1 + 52 7270 c.7051C>T c.(7051-7053)CGC>TGC p.R2351C ITPR3_uc003oey.2_Missense_Mutation_p.R438C NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2351 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CCTCATCTACCGCGAGGAGAC 0.607 NA 10 46 0 0 0.00245 0 0 SNAP91 9892 broad.mit.edu 37 6 84301006 84301006 + Missense_Mutation SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr6:84301006A>T uc011dze.1 - 21 2255 c.1938T>A c.(1936-1938)TTT>TTA p.F646L SNAP91_uc011dzd.1_Missense_Mutation_p.F149L|SNAP91_uc003pkb.2_Missense_Mutation_p.F555L|SNAP91_uc003pkc.2_Missense_Mutation_p.F616L|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.F644L NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 646 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CACTACTTCCAAATGCATCTA 0.378 NA 21 21 0 0 0.00333 0 0 VNN2 8875 broad.mit.edu 37 6 133078832 133078832 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr6:133078832G>T uc003qdt.2 - 1 202 c.191C>A c.(190-192)GCG>GAG p.A64E VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.A64E|VNN2_uc003qdv.2_Missense_Mutation_p.A11E NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 64 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CTGCTTGATCGCTGTCTCCAG 0.433 NA 13 24 0.000308642 0.0003367 0.003163 1 0 BCLAF1 9774 broad.mit.edu 37 6 136582546 136582546 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr6:136582546C>A uc003qgx.1 - 12 2867 c.2614G>T c.(2614-2616)GGC>TGC p.G872C BCLAF1_uc011edb.1_Missense_Mutation_p.G151C|BCLAF1_uc003qgw.1_Missense_Mutation_p.G699C|BCLAF1_uc003qgy.1_Missense_Mutation_p.G821C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G870C NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 872 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CGCCCTCTGCCACGTTGAAAA 0.423 Colon(142;1534 1789 5427 7063 28491) NA 21 127 3.5997e-14 5.49107e-14 0.014323 1 0 TMEM181 57583 broad.mit.edu 37 6 159029488 159029488 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr6:159029488G>A uc003qrm.3 + 9 1219 c.1208G>A c.(1207-1209)CGT>CAT p.R403H TMEM181_uc010kjr.1_Missense_Mutation_p.R234H NM_020823 NP_065874 Q9P2C4 TM181_HUMAN G protein-coupled receptor 178 403 pathogenesis integral to membrane toxin binding ovary(2)|central_nervous_system(1) 3 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) CACGGGATTCGTGTCCAGGTG 0.602 NA 28 51 0 0 0.003271 0 0 FOXK1 221937 broad.mit.edu 37 7 4798734 4798734 + Missense_Mutation SNP G G T rs138350134 TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr7:4798734G>T uc003snc.1 + 6 1307 c.1297G>T c.(1297-1299)GGC>TGC p.G433C FOXK1_uc003sna.1_Missense_Mutation_p.G270C NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 433 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|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 upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) TCGCTCCGGCGGCCTGCAGAC 0.662 NA 33 58 7.93934e-33 1.38746e-32 0.00623 1 0 CPVL 54504 broad.mit.edu 37 7 29103807 29103807 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr7:29103807G>A uc003szv.2 - 11 1126 c.1007C>T c.(1006-1008)CCA>CTA p.P336L CPVL_uc003szw.2_Missense_Mutation_p.P336L|CPVL_uc003szx.2_Missense_Mutation_p.P336L NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 336 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 TCTCACCTCTGGGAGTGACAA 0.438 NA 10 18 0 0 0.010729 0 0 HIP1 3092 broad.mit.edu 37 7 75221730 75221730 + Missense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr7:75221730C>T uc003uds.1 - 3 328 c.287G>A c.(286-288)TGC>TAC p.C96Y HIP1_uc011kfz.1_5'UTR NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 96 ENTH. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 GAACACATGGCAGAACTTCCA 0.577 NA T PDGFRB CMML 5 17 0 0 0.000602 0 0 ANKIB1 54467 broad.mit.edu 37 7 92000845 92000845 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr7:92000845C>A uc003ulw.2 + 11 1917 c.1541C>A c.(1540-1542)ACT>AAT p.T514N ANKIB1_uc010lew.1_5'UTR NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 514 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGGTTATTAACTAACTCCAAG 0.398 NA 3 5 2.56e-06 3.072e-06 0.009096 1 0 FLNC 2318 broad.mit.edu 37 7 128470746 128470746 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr7:128470746G>A uc003vnz.3 + 1 264 c.55G>A c.(55-57)GAC>AAC p.D19N FLNC_uc003voa.3_Missense_Mutation_p.D19N NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 19 Actin-binding. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CGATGAGACAGACGAGATGCC 0.468 NA 8 15 0 0 0.006214 0 0 DEFA6 1671 broad.mit.edu 37 8 6783429 6783429 + Silent SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr8:6783429C>T uc003wqt.2 - 1 170 c.129G>A c.(127-129)GGG>GGA p.G43G NM_001926 NP_001917 Q01524 DEF6_HUMAN defensin, alpha 6 preproprotein 43 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GGTCATTTGCCCCACGCTGCT 0.512 NA 3 9 0 0 0.004672 0 0 ADAM18 8749 broad.mit.edu 37 8 39494786 39494786 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr8:39494786G>T uc003xni.2 + 8 592 c.592G>T c.(592-594)GAT>TAT p.D198Y ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Intron NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 198 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTTTCAGTATGATTATATGGG 0.194 NA 10 22 6.40141e-05 7.11268e-05 0.010729 1 0 HOOK3 84376 broad.mit.edu 37 8 42863022 42863022 + Missense_Mutation SNP A A G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr8:42863022A>G uc003xpr.2 + 18 1930 c.1688A>G c.(1687-1689)CAG>CGG p.Q563R NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 563 Potential.|Required for interaction with MSR1.|Required for association with Golgi. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AATGAACTACAGAAGAAGAGA 0.373 NA T RET papillary thyroid 16 41 0 0 0.00333 0 0 SNTG1 54212 broad.mit.edu 37 8 51363285 51363285 + Missense_Mutation SNP A A T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr8:51363285A>T uc010lxy.1 + 9 730 c.359A>T c.(358-360)GAA>GTA p.E120V SNTG1_uc003xqs.1_Missense_Mutation_p.E120V|SNTG1_uc010lxz.1_Missense_Mutation_p.E120V|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 120 PDZ. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) AGACATGAAGAAGTGGTGAGT 0.333 NA 4 18 0 0 0.000602 0 0 PLEC 5339 broad.mit.edu 37 8 145011192 145011192 + Silent SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr8:145011192G>A uc003zaf.1 - 5 971 c.801C>T c.(799-801)CCC>CCT p.P267P PLEC_uc003zab.1_Silent_p.P130P|PLEC_uc003zac.1_Silent_p.P134P|PLEC_uc003zad.2_Silent_p.P130P|PLEC_uc003zae.1_Silent_p.P98P|PLEC_uc003zag.1_Silent_p.P108P|PLEC_uc003zah.2_Silent_p.P116P|PLEC_uc003zaj.2_Silent_p.P157P NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 267 CH 1.|Globular 1.|Actin-binding. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GGGTCAGCTTGGGGTTGCCGT 0.617 NA 15 61 0 0 0.008871 0 0 LINGO2 158038 broad.mit.edu 37 9 27950644 27950644 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr9:27950644C>A uc003zqu.1 - 2 220 c.26G>T c.(25-27)TGG>TTG p.W9L LINGO2_uc010mjf.1_Missense_Mutation_p.W9L|LINGO2_uc003zqv.1_Missense_Mutation_p.W9L NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 9 integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GAATGGCTGCCAGCATGATAT 0.537 NA 10 21 5.50884e-06 6.39736e-06 0.013537 1 0 PGM5 5239 broad.mit.edu 37 9 70993155 70993155 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr9:70993155C>A uc004agr.2 + 2 531 c.302C>A c.(301-303)ACA>AAA p.T101K NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 101 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 ATCTTGTCGACACCTGCGGTC 0.473 NA 6 16 3.09899e-07 3.87373e-07 0.004482 1 0 PTCH1 5727 broad.mit.edu 37 9 98220527 98220527 + Missense_Mutation SNP T T C TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr9:98220527T>C uc004avk.3 - 18 3124 c.2936A>G c.(2935-2937)AAC>AGC p.N979S PTCH1_uc010mro.2_Missense_Mutation_p.N828S|PTCH1_uc010mrp.2_Missense_Mutation_p.N828S|PTCH1_uc010mrq.2_Missense_Mutation_p.N828S|PTCH1_uc004avl.3_Missense_Mutation_p.N828S|PTCH1_uc010mrr.2_Missense_Mutation_p.N913S|PTCH1_uc004avm.3_Missense_Mutation_p.N978S NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 979 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.I963fs*2(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCGCAAGCCGTTGAGGTAGAA 0.562 NA Basal_Cell_Nevus_syndrome 4 18 0 0 0.009096 0 0 LPAR1 1902 broad.mit.edu 37 9 113704290 113704290 + Silent SNP T T C rs145661148 TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr9:113704290T>C uc004bfa.2 - 4 459 c.204A>G c.(202-204)CTA>CTG p.L68L LPAR1_uc011lwm.1_Silent_p.L69L|LPAR1_uc004bfb.2_Silent_p.L68L|LPAR1_uc004bfc.2_Silent_p.L68L|LPAR1_uc011lwn.1_Silent_p.L50L|LPAR1_uc011lwo.1_Silent_p.L69L|LPAR1_uc010mub.2_Silent_p.L68L NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 68 Helical; Name=1; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 CCATGACCAATAGGTTGGCCA 0.468 NSCLC(115;661 2323 9836 34256) NA 14 46 0 0 0.00499 0 0 RC3H2 54542 broad.mit.edu 37 9 125613429 125613429 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr9:125613429G>A uc010mwc.1 - 20 3552 c.3311C>T c.(3310-3312)CCA>CTA p.P1104L uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type zinc finger domains 2 1104 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding ovary(2)|lung(2) 4 CTGCTGTACTGGATGCCCATT 0.388 NA 26 64 0 0 0.004656 0 0 RS1 6247 broad.mit.edu 37 X 18675776 18675776 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:18675776C>A uc004cyo.2 - 2 97 c.62G>T c.(61-63)GGA>GTA p.G21V NM_000330 NP_000321 O15537 XLRS1_HUMAN X-linked juvenile retinoschisis protein 21 cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space ovary(2) 2 Hepatocellular(33;0.183) AGACGATAATCCCAATGTGGC 0.338 NA 10 38 4.3838e-07 5.44196e-07 0.001855 1 0 PHEX 5251 broad.mit.edu 37 X 22129677 22129677 + Missense_Mutation SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:22129677G>A uc004dah.2 + 10 1375 c.1172G>A c.(1171-1173)AGG>AAG p.R391K PHEX_uc011mjr.1_Missense_Mutation_p.R391K|PHEX_uc011mjs.1_Missense_Mutation_p.R294K NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 391 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 GAATTCTCAAGGGTAAGTTTA 0.383 NA 19 40 0 0 0.008871 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48858616 48858616 + Missense_Mutation SNP C C G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:48858616C>G uc004dly.1 - 1 60 c.25G>C c.(25-27)GAG>CAG p.E9Q GRIPAP1_uc004dma.2_Missense_Mutation_p.E9Q NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 9 Potential. early endosome breast(2)|kidney(1) 3 CGCTGAAACTCCTCCTCAGAC 0.657 NA 13 61 0 0 0.004007 0 0 KIF4A 24137 broad.mit.edu 37 X 69595170 69595170 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:69595170C>A uc004dyg.2 + 17 2022 c.1895C>A c.(1894-1896)ACT>AAT p.T632N KIF4A_uc010nkw.2_Missense_Mutation_p.T632N|KIF4A_uc004dyf.1_Missense_Mutation_p.T632N NM_012310 NP_036442 O95239 KIF4A_HUMAN kinesin family member 4 632 Potential. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding ovary(4) 4 ACAGAGCGTACTGTCTCCAAA 0.413 NA 22 44 9.39395e-14 1.40909e-13 0.00632 1 0 ZCCHC12 170261 broad.mit.edu 37 X 117960178 117960178 + Missense_Mutation SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:117960178G>T uc004equ.2 + 4 1444 c.971G>T c.(970-972)GGT>GTT p.G324V NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 ACCAGTGGTGGTTCTGGCTAT 0.542 NA 30 65 1.36161e-19 2.2281e-19 0.004289 1 0 GRIA3 2892 broad.mit.edu 37 X 122561800 122561800 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:122561800C>A uc004etq.3 + 13 2179 c.1886C>A c.(1885-1887)TCC>TAC p.S629Y GRIA3_uc004etr.3_Missense_Mutation_p.S629Y|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 629 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) AGATCACTCTCCGGGCGCATT 0.433 NA 25 63 1.61788e-16 2.5105e-16 0.012213 1 0 UTP14A 10813 broad.mit.edu 37 X 129040175 129040175 + Translation_Start_Site SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:129040175C>A uc004euz.2 + 1 17 c.-11C>A c.(-13--9)AGCTG>AGATG UTP14A_uc011mup.1_Translation_Start_Site|UTP14A_uc011muq.1_Translation_Start_Site NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 GTGAGAGAAGCTGGCTGCTGA 0.577 NA 28 92 3.21399e-22 5.35666e-22 0.004878 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993298 140993298 + Silent SNP G G A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:140993298G>A uc004fbt.2 + 4 394 c.108G>A c.(106-108)CAG>CAA p.Q36Q MAGEC1_uc010nsl.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 36 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCTCCAGATTCCCCAGA 0.572 NA HNSCC(15;0.026) 20 69 0 0 0.014323 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993708 140993708 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:140993708C>A uc004fbt.2 + 4 804 c.518C>A c.(517-519)TCC>TAC p.S173Y MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 173 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GCCTCCTCCTCCACTTTAGTG 0.493 NA HNSCC(15;0.026) 21 60 1.37657e-19 2.23227e-19 0.012319 1 0 BGN 633 broad.mit.edu 37 X 152773722 152773722 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:152773722C>A uc004fhr.1 + 8 1098 c.926C>A c.(925-927)TCC>TAC p.S309Y BGN_uc004fhq.1_RNA NM_001711 NP_001702 P21810 PGS1_HUMAN biglycan preproprotein 309 LRR 10. 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) TATCTGCACTCCAACAACATC 0.607 NA 48 151 1.64573e-32 2.84839e-32 0.01441 1 0 SLC6A8 6535 broad.mit.edu 37 X 152954185 152954185 + Silent SNP C C G TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:152954185C>G uc004fib.3 + 1 434 c.156C>G c.(154-156)CGC>CGG p.R52R SLC6A8_uc004fic.3_Silent_p.R52R|SLC6A8_uc011myx.1_5'Flank|PNCK_uc011myw.1_5'Flank|SLC6A8_uc010nui.1_5'Flank NM_005629 NP_005620 P48029 SC6A8_HUMAN solute carrier family 6 member 8 isoform 1 52 Cytoplasmic (Potential). creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) TGCCGCCGCGCGAGACCTGGA 0.607 NA 4 11 0 0 0.009096 0 0 FUNDC2 65991 broad.mit.edu 37 X 154274857 154274857 + Nonsense_Mutation SNP C C T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:154274857C>T uc004fmw.2 + 3 508 c.358C>T c.(358-360)CAG>TAG p.Q120* NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 120 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTTTCTCCTTCAGGTCTGTAT 0.438 NA 13 90 0 0 0.001855 0 0 INSC 387755 broad.mit.edu 37 11 15134077 15134077 + Frame_Shift_Del DEL G G - TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr11:15134077delG uc001mly.2 + 1 108 c.62delG c.(61-63)TGGfs p.W21fs INSC_uc001mlz.2_5'Flank NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 21 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TGGGGTCTATGGGGAGTCCAG 0.488 NA 13 43 --- --- --- --- NA NA NA NA NA KCNA1 3736 broad.mit.edu 37 12 5021881 5021881 + Frame_Shift_Del DEL C C - TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:5021881delC uc001qnh.2 + 2 2442 c.1337delC c.(1336-1338)TCCfs p.S446fs NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 446 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGCCGCAGTTCCTCTACTATG 0.478 NA 53 135 --- --- --- --- NA NA NA NA NA ANKS1B 56899 broad.mit.edu 37 12 99446957 99446958 + Frame_Shift_Ins INS - - T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr12:99446957_99446958insT uc001tge.1 - 17 3172_3173 c.2755_2756insA c.(2755-2757)ATCfs p.I919fs ANKS1B_uc001tgf.1_Frame_Shift_Ins_p.I495fs|ANKS1B_uc001tgk.2_Frame_Shift_Ins_p.I216fs|ANKS1B_uc001tgd.1_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgi.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc009ztr.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgj.2_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgg.3_Frame_Shift_Ins_p.I88fs|ANKS1B_uc010svg.1_Frame_Shift_Ins_p.I114fs|ANKS1B_uc009zts.1_Frame_Shift_Ins_p.I145fs|ANKS1B_uc001tgm.1_Frame_Shift_Ins_p.I145fs NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 919 SAM 2. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AACCTCCCAGATTTTTTTCAAC 0.371 NA 9 8 --- --- --- --- NA NA NA NA NA ARHGAP5 394 broad.mit.edu 37 14 32561858 32561858 + Frame_Shift_Del DEL A A - TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr14:32561858delA uc001wrl.2 + 2 2222 c.1983delA c.(1981-1983)GTAfs p.V661fs ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.V661fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.V661fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 661 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GCTTCTGTGTATTTAATTCCA 0.373 NSCLC(9;77 350 3443 29227 41353) NA 19 51 --- --- --- --- NA NA NA NA NA CRK 1398 broad.mit.edu 37 17 1326904 1326904 + Frame_Shift_Del DEL C C - TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr17:1326904delC uc002fsl.2 - 3 951 c.818delG c.(817-819)GGTfs p.G273fs CRK_uc002fsm.2_3'UTR NM_016823 NP_058431 P46108 CRK_HUMAN v-crk sarcoma virus CT10 oncogene homolog 273 SH3 2. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane protein binding|SH2 domain binding lung(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) TTCCCACTGACCACTCACATT 0.483 NA 31 69 --- --- --- --- NA NA NA NA NA RXFP1 59350 broad.mit.edu 37 4 159568146 159568146 + Frame_Shift_Del DEL C C - TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr4:159568146delC uc003ipz.2 + 16 1631 c.1549delC c.(1549-1551)CCTfs p.P517fs RXFP1_uc011cja.1_Frame_Shift_Del_p.P412fs|RXFP1_uc010iqo.2_Frame_Shift_Del_p.P469fs|RXFP1_uc011cjb.1_Frame_Shift_Del_p.P415fs|RXFP1_uc010iqk.2_Frame_Shift_Del_p.P385fs|RXFP1_uc011cjc.1_Frame_Shift_Del_p.P436fs|RXFP1_uc011cjd.1_Frame_Shift_Del_p.P436fs|RXFP1_uc010iql.2_Frame_Shift_Del_p.P361fs|RXFP1_uc011cje.1_Frame_Shift_Del_p.P544fs|RXFP1_uc010iqm.2_Frame_Shift_Del_p.P484fs|RXFP1_uc011cjf.1_Frame_Shift_Del_p.P386fs|RXFP1_uc010iqn.2_Frame_Shift_Del_p.P462fs NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 517 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CATTGTCTATCCTTTTAGATG 0.358 NA 15 32 --- --- --- --- NA NA NA NA NA DCBLD1 285761 broad.mit.edu 37 6 117866753 117866754 + Frame_Shift_Ins INS - - A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr6:117866753_117866754insA uc003pxs.2 + 14 1733_1734 c.1608_1609insA c.(1606-1611)GATATGfs p.D536fs GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_3'UTR|DCBLD1_uc003pxt.1_Frame_Shift_Ins_p.D191fs NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 536_537 Cytoplasmic (Potential). cell adhesion integral to membrane ovary(1) 1 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TCACAAGTGATATGGCAGGTAA 0.411 NA 7 70 --- --- --- --- NA NA NA NA NA ARID1B 57492 broad.mit.edu 37 6 157469810 157469811 + Frame_Shift_Ins INS - - G rs145635490 byFrequency TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr6:157469810_157469811insG uc003qqn.2 + 8 2543_2544 c.2391_2392insG c.(2389-2394)AGCGGCfs p.S797fs ARID1B_uc003qqo.2_Frame_Shift_Ins_p.S810fs|ARID1B_uc003qqp.2_Frame_Shift_Ins_p.S797fs|ARID1B_uc003qqq.1_Frame_Shift_Ins_p.S239fs|ARID1B_uc010kjl.2_5'UTR NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 855_856 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAAGCTACAGCGGCCCAGGGCC 0.53 NA 21 44 --- --- --- --- NA NA NA NA NA C7orf45 136263 broad.mit.edu 37 7 129856175 129856176 + Frame_Shift_Ins INS - - T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chr7:129856175_129856176insT uc003vpp.2 + 3 647_648 c.600_601insT c.(598-603)CACTGCfs p.H200fs NM_145268 NP_660311 Q8WWF3 CG045_HUMAN hypothetical protein LOC136263 200_201 integral to membrane 0 Melanoma(18;0.0435) ACTGCCTCCACTGCAAAGCCTT 0.485 NA 23 78 --- --- --- --- NA NA NA NA NA FAM47B 170062 broad.mit.edu 37 X 34962676 34962676 + Frame_Shift_Del DEL G G - TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:34962676delG uc004ddi.1 + 1 1746 c.1728delG c.(1726-1728)AAGfs p.K576fs NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 576 ovary(3)|breast(1) 4 TACTTGAAAAGCCTGATGAAC 0.458 NA 31 92 --- --- --- --- NA NA NA NA NA OGT 8473 broad.mit.edu 37 X 70779527 70779527 + Frame_Shift_Del DEL G G - TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7fe7a79c-8d8d-4cb4-87b7-adf745fdabe9 6c41dcba-66c0-474f-91f8-2e148efd6c18 g.chrX:70779527delG uc004eaa.1 + 14 2068 c.1851delG c.(1849-1851)CAGfs p.Q617fs BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Frame_Shift_Del_p.Q607fs|OGT_uc004eac.2_Frame_Shift_Del_p.Q478fs|OGT_uc004ead.2_Frame_Shift_Del_p.Q236fs NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 617 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) ATCTTTCTCAGGTAGATGAAA 0.358 NA 8 23 --- --- --- --- NA NA NA NA NA