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 CORT 1325 broad.mit.edu 37 1 10510148 10510148 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:10510148C>T uc001ari.2 + 1 178 c.18C>T c.(16-18)AAC>AAT p.N6N APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron NM_001302 NP_001293 O00230 CORT_HUMAN cortistatin preproprotein Error:Variant_position_missing_in_O00230_after_alignment inhibition of adenylate cyclase activity by G-protein signaling pathway|synaptic transmission extracellular region|soluble fraction G-protein-coupled receptor binding|neuropeptide hormone activity 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487) GACACAAAAACAGCTGGAGAT 0.517 NA 33 112 0 0 0.009535 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919947 12919947 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:12919947G>A uc001aum.1 + 3 774 c.687G>A c.(685-687)AAG>AAA p.K229K NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 229 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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTTACCTGAAGGAGATGAAGA 0.403 NA 15 96 0 0 0.004007 0 0 SPEN 23013 broad.mit.edu 37 1 16258058 16258058 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:16258058G>A uc001axk.1 + 11 5527 c.5323G>A c.(5323-5325)GAA>AAA p.E1775K SPEN_uc010obp.1_Missense_Mutation_p.E1734K NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1775 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCCAAAGGCCGAAAAGCCAGA 0.532 NA 21 90 0 0 0.008871 0 0 EIF4G3 8672 broad.mit.edu 37 1 21276584 21276584 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:21276584G>A uc001bec.2 - 8 823 c.567C>T c.(565-567)CCC>CCT p.P189P EIF4G3_uc010odi.1_Intron|EIF4G3_uc010odj.1_Silent_p.P188P|EIF4G3_uc009vpz.2_Silent_p.P189P|EIF4G3_uc001bed.2_Silent_p.P189P|EIF4G3_uc001bef.2_Silent_p.P188P|EIF4G3_uc001bee.2_Silent_p.P195P|EIF4G3_uc001beg.2_Silent_p.P188P|EIF4G3_uc010odk.1_Silent_p.P189P|EIF4G3_uc001beh.2_Silent_p.P200P NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 189 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GGCTGTGCTCGGGGACCTGGC 0.527 NA 10 31 0 0 0.013537 0 0 RHCE 6006 broad.mit.edu 37 1 25729191 25729191 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:25729191C>A uc001bkf.2 - 3 468 c.382G>T c.(382-384)GGT>TGT p.G128C RHCE_uc001bkg.2_Missense_Mutation_p.G128C|RHCE_uc001bkh.2_Missense_Mutation_p.G128C|RHCE_uc001bki.2_Missense_Mutation_p.G128C|RHCE_uc001bkj.2_Missense_Mutation_p.G112C NM_020485 NP_065231 P18577 RHCE_HUMAN Rhesus blood group, CcEe antigens isoform 1 128 Helical; (Potential). integral to plasma membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) AAGACAGCACCCGCTGAGATC 0.537 NA 38 53 1.836e-18 2.31916e-18 0.003755 1 0 ADPRHL2 54936 broad.mit.edu 37 1 36557266 36557266 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:36557266G>T uc001bzt.2 + 3 409 c.356G>T c.(355-357)GGA>GTA p.G119V ADPRHL2_uc001bzu.2_5'UTR NM_017825 NP_060295 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 119 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity pancreas(1) 1 Myeloproliferative disorder(586;0.0393) TATGGTGCTGGAGTAGTCACT 0.507 NA 26 49 5.45727e-16 6.80387e-16 0.008361 1 0 POU3F1 5453 broad.mit.edu 37 1 38511276 38511276 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:38511276C>T uc001ccp.1 - 1 1175 c.1140G>A c.(1138-1140)AAG>AAA p.K380K NM_002699 NP_002690 Q03052 PO3F1_HUMAN POU domain, class 3, transcription factor 1 380 Homeobox. positive regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCACCACCTCCTTCTCCAGCT 0.672 NA 4 12 0 0 0.009096 0 0 TOE1 114034 broad.mit.edu 37 1 45808899 45808899 + Missense_Mutation SNP C C T rs145913038 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:45808899C>T uc009vxq.2 + 8 1641 c.1058C>T c.(1057-1059)CCG>CTG p.P353L MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.P273L|TOE1_uc001cnr.3_RNA NM_025077 NP_079353 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 353 nuclear speck|nucleolus nucleic acid binding|zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) TTGAACCTACCGGGGACACAG 0.557 NA 22 94 0 0 0.012319 0 0 OSBPL9 114883 broad.mit.edu 37 1 52249623 52249623 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:52249623T>C uc001cst.2 + 18 1569 c.1550T>C c.(1549-1551)ATA>ACA p.I517T OSBPL9_uc001css.2_Missense_Mutation_p.I522T|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.I518T|OSBPL9_uc001csu.2_Missense_Mutation_p.I527T|OSBPL9_uc001csv.2_Missense_Mutation_p.I352T|OSBPL9_uc001csw.2_Missense_Mutation_p.I504T|OSBPL9_uc001csy.2_Missense_Mutation_p.I339T|OSBPL9_uc001csz.2_Missense_Mutation_p.I339T|OSBPL9_uc001cta.2_Missense_Mutation_p.I407T|OSBPL9_uc001ctb.2_Missense_Mutation_p.I302T NM_024586 NP_078862 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 isoform e 517 lipid transport lipid binding central_nervous_system(1) 1 AACAAGAAGATACAATTCAAT 0.378 NA 7 27 0 0 0.00308 0 0 GLIS1 148979 broad.mit.edu 37 1 53980329 53980329 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:53980329G>T uc001cvr.1 - 7 1894 c.1327C>A c.(1327-1329)CCT>ACT p.P443T NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 443 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 ATGGGCAGAGGGGACAGATGG 0.657 NA 7 46 0.00198382 0.00214588 0.001984 1 0 LEPR 3953 broad.mit.edu 37 1 66083657 66083657 + Silent SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:66083657G>T uc001dci.2 + 16 2425 c.2223G>T c.(2221-2223)GTG>GTT p.V741V LEPR_uc001dcg.2_Silent_p.V741V|LEPR_uc001dch.2_Silent_p.V741V|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.V741V|LEPR_uc001dck.2_Silent_p.V741V NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 741 Extracellular (Potential).|Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TAAATATCGTGCAGTCACTCA 0.313 NA 16 27 6.72482e-11 8.01967e-11 0.003163 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74540470 74540470 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:74540470A>G uc001dfy.3 - 6 1064 c.872T>C c.(871-873)ATA>ACA p.I291T LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 291 ovary(2) 2 AGGATAATATATATTCTGTGA 0.164 NA 3 9 0 0 0.009096 0 0 LPHN2 23266 broad.mit.edu 37 1 82417743 82417743 + Nonsense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:82417743G>T uc001dit.3 + 9 1880 c.1699G>T c.(1699-1701)GAG>TAG p.E567* LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.E567*|LPHN2_uc001div.2_Nonsense_Mutation_p.E567*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.E567*|LPHN2_uc001diw.2_Nonsense_Mutation_p.E138* NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 567 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GAGATTGATGGAGCAGTTGGT 0.458 NA 15 12 1.3612e-06 1.54189e-06 0.003163 1 0 LPPR4 9890 broad.mit.edu 37 1 99771294 99771294 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:99771294C>A uc001dse.2 + 7 1126 c.1020C>A c.(1018-1020)CAC>CAA p.H340Q LPPR4_uc010oue.1_Missense_Mutation_p.H282Q NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 340 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TGTTTCAGCACAGAGACGCCC 0.448 NA 36 52 1.36239e-07 1.57104e-07 0.003271 1 0 LPPR4 9890 broad.mit.edu 37 1 99771339 99771339 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:99771339C>A uc001dse.2 + 7 1171 c.1065C>A c.(1063-1065)AAC>AAA p.N355K LPPR4_uc010oue.1_Missense_Mutation_p.N297K NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 355 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AAGATCCCAACCGACTTTTAT 0.478 NA 16 81 1.5739e-10 1.87113e-10 0.004007 1 0 LPPR4 9890 broad.mit.edu 37 1 99772332 99772332 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:99772332G>C uc001dse.2 + 7 2164 c.2058G>C c.(2056-2058)AAG>AAC p.K686N LPPR4_uc010oue.1_Missense_Mutation_p.K628N NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 686 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GAGATCGCAAGAGAAGCAACA 0.512 NA 4 21 0 0 0.009096 0 0 BCL9 607 broad.mit.edu 37 1 147091285 147091285 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:147091285C>A uc001epq.2 + 8 2064 c.1324C>A c.(1324-1326)CCA>ACA p.P442T BCL9_uc010ozr.1_Missense_Mutation_p.P368T NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 442 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) ACCCTTTTCTCCAGATGAAAT 0.542 NA T IGH@|IGL@ B-ALL 16 38 3.45872e-05 3.8497e-05 0.004007 1 0 KIRREL 55243 broad.mit.edu 37 1 158064493 158064493 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:158064493A>G uc001frn.3 + 15 2261 c.1857A>G c.(1855-1857)GCA>GCG p.A619A KIRREL_uc010pib.1_Silent_p.A519A|KIRREL_uc009wsq.2_Silent_p.A455A|KIRREL_uc001fro.3_Silent_p.A433A|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 619 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CTTCCAGGGCAGTGCTCTATG 0.637 NA 7 49 0 0 0.001984 0 0 OR6N2 81442 broad.mit.edu 37 1 158747203 158747203 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:158747203C>T uc010pir.1 - 1 223 c.223G>A c.(223-225)GCT>ACT p.A75T NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) ATAGTGGTAGCTGTATACCAC 0.443 NA 19 104 0 0 0.007413 0 0 CRP 1401 broad.mit.edu 37 1 159683534 159683534 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:159683534G>A uc001ftw.2 - 2 560 c.456C>T c.(454-456)ATC>ATT p.I152I CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 152 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CCTGCCCCAAGATGATGCTTG 0.547 NA 122 262 0 0 0.01441 0 0 TAGLN2 8407 broad.mit.edu 37 1 159889539 159889539 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:159889539C>G uc001fum.1 - 2 317 c.267G>C c.(265-267)CAG>CAC p.Q89H CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.Q89H|TAGLN2_uc001fuo.1_Missense_Mutation_p.Q89H|TAGLN2_uc010piy.1_3'UTR NM_003564 NP_003555 P37802 TAGL2_HUMAN transgelin 2 89 CH. muscle organ development nuclear membrane|plasma membrane protein binding 0 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTGCTCCATCTGCTTGAAGG 0.552 NA 66 138 0 0 0.01441 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186934691 186934691 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:186934691C>A uc001gsc.2 + 15 1935 c.1730C>A c.(1729-1731)TCT>TAT p.S577Y PLA2G4A_uc010pos.1_Missense_Mutation_p.S517Y NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 577 PLA2c. S->A: 7-fold reduced phospholipase and lysophosphatase activities. 100-fold reduced phospholipase and lysophosphatase activities; when associated with A-195. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TTTGACTTTTCTGCAAGGCCA 0.433 NA 6 84 5.9392e-07 6.76752e-07 0.001168 1 0 DISP1 84976 broad.mit.edu 37 1 223176456 223176456 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:223176456G>A uc001hnu.1 + 8 1864 c.1717G>A c.(1717-1719)GAT>AAT p.D573N NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 573 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TGGAGCAGATGATGCTTTTGT 0.403 NA 32 60 0 0 0.008361 0 0 OBSCN 84033 broad.mit.edu 37 1 228522247 228522247 + Splice_Site SNP T T G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:228522247T>G uc009xez.1 + 60 16131 c.16087_splice c.e60+2 p.D5363_splice OBSCN_uc001hsn.2_Splice_Site_p.D5363_splice|OBSCN_uc001hsr.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 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) CTGCATCAGGTGAGGCAGCCC 0.662 NA 2 3 0 0 0.004672 0 0 C1orf124 83932 broad.mit.edu 37 1 231487114 231487114 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:231487114C>T uc001hur.2 + 4 963 c.515C>T c.(514-516)CCG>CTG p.P172L C1orf124_uc001hus.2_Missense_Mutation_p.P172L|C1orf124_uc001hut.2_Missense_Mutation_p.P129L NM_032018 NP_114407 Q9H040 CA124_HUMAN hypothetical protein LOC83932 isoform a 172 DNA repair nuclear speck DNA binding|metal ion binding 0 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) TGCAATGGGCCGTGCCAGCAC 0.498 Esophageal Squamous(43;65 937 18756 45127 47168) NA 13 50 0 0 0.001855 0 0 RBM34 23029 broad.mit.edu 37 1 235318412 235318412 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:235318412C>T uc001hwn.2 - 4 411 c.381G>A c.(379-381)GCG>GCA p.A127A RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Silent_p.A127A NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 127 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) AATCAGCACTCGCTAGAGCGC 0.393 NA 22 33 0 0 0.00333 0 0 FMN2 56776 broad.mit.edu 37 1 240601508 240601508 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:240601508G>A uc010pyd.1 + 16 5283 c.5058G>A c.(5056-5058)GAG>GAA p.E1686E FMN2_uc010pye.1_Silent_p.E1690E|FMN2_uc010pyg.1_Silent_p.E282E NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1686 Potential.|FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTCTACAAGAGAGGTAGGTAT 0.388 NA 9 55 0 0 0.004482 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242162301 242162301 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:242162301G>C uc001hzk.2 - 1 85 c.10C>G c.(10-12)CCA>GCA p.P4A NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 4 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) ATTTTCTGTGGAGGCGGCATT 0.468 NA OREG0014354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 56 0 0 0.00278 0 0 OR2W3 343171 broad.mit.edu 37 1 248059253 248059253 + Missense_Mutation SNP G G T rs141229039 byFrequency TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:248059253G>T uc001idp.1 + 3 634 c.365G>T c.(364-366)CGG>CTG p.R122L OR2W3_uc010pzb.1_Missense_Mutation_p.R122L NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCTATGACCGGTGTGTGGCT 0.602 NA 21 48 6.33239e-15 7.84399e-15 0.010504 1 0 OR2G6 391211 broad.mit.edu 37 1 248685664 248685664 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:248685664G>A uc001ien.1 + 1 717 c.717G>A c.(715-717)GGG>GGA p.G239G NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGCCTTTGGGACCTGTTCGT 0.458 NA 22 64 0 0 0.010504 0 0 TAF3 83860 broad.mit.edu 37 10 8006790 8006790 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:8006790C>T uc010qbd.1 + 3 1317 c.1317C>T c.(1315-1317)TCC>TCT p.S439S NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 439 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 CTTCCACTTCCGCGAACAATT 0.468 NA 25 98 0 0 0.00333 0 0 SUV39H2 79723 broad.mit.edu 37 10 14939122 14939122 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:14939122G>A uc001inh.2 + 2 331 c.275G>A c.(274-276)GGA>GAA p.G92E SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Missense_Mutation_p.G92E|SUV39H2_uc001inj.2_Missense_Mutation_p.G92E NM_024670 NP_078946 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 152 cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|ovary(1) 3 AATCATAAAGGAATGATATTT 0.383 NA 12 35 0 0 0.010729 0 0 PTER 9317 broad.mit.edu 37 10 16547037 16547037 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:16547037A>G uc001iog.1 + 5 924 c.717A>G c.(715-717)AAA>AAG p.K239K PTER_uc001ioh.1_Silent_p.K239K|PTER_uc001ioi.1_Silent_p.K239K|PTER_uc009xjp.1_Intron NM_030664 NP_109589 Q96BW5 PTER_HUMAN phosphotriesterase related 239 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding ovary(2) 2 TTGATAAGAAAGAGCTCTTGG 0.393 Ovarian(2;46 150 15648 38137 47908) NA 25 71 0 0 0.004656 0 0 MLLT10 8028 broad.mit.edu 37 10 22016856 22016856 + Missense_Mutation SNP C C G rs138169869 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:22016856C>G uc001iqs.2 + 17 2458 c.2110C>G c.(2110-2112)CGA>GGA p.R704G MLLT10_uc001iqt.2_Missense_Mutation_p.R688G|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.R688G|MLLT10_uc001ira.2_Missense_Mutation_p.R145G|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 704 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 TCTCTCGCCACGGTAAGCGCT 0.423 NA T MLL|PICALM|CDK6 AL 7 14 0 0 0.00308 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508673 37508673 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:37508673G>A uc001iza.1 + 34 3964 c.3865G>A c.(3865-3867)GAC>AAC p.D1289N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1345 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TAAGAAAGCTGACAACAAAAG 0.318 NA 4 22 0 0 0.009096 0 0 ANUBL1 93550 broad.mit.edu 37 10 46111945 46111945 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:46111945C>A uc001jcp.3 - 10 2365 c.2123G>T c.(2122-2124)GGG>GTG p.G708V ANUBL1_uc001jcl.3_Missense_Mutation_p.G228V|ANUBL1_uc001jcm.3_Missense_Mutation_p.G708V|ANUBL1_uc009xmu.2_Missense_Mutation_p.G634V|ANUBL1_uc001jcn.3_Missense_Mutation_p.G634V|ANUBL1_uc001jco.3_3'UTR NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog 708 AN1-type. zinc ion binding 0 GTATCTCCTCCCTGCACTCTT 0.423 NA 35 22 1.26612e-14 1.56331e-14 0.003271 1 0 PCDH15 65217 broad.mit.edu 37 10 55566757 55566757 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:55566757T>C uc010qhq.1 - 36 5026 c.4631A>G c.(4630-4632)AAT>AGT p.N1544S PCDH15_uc010qhr.1_Missense_Mutation_p.N1539S NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AATATATATATTGCCGTTGAT 0.483 NA HNSCC(58;0.16) 9 36 0 0 0.006214 0 0 ANK3 288 broad.mit.edu 37 10 61844939 61844939 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:61844939G>A uc001jky.2 - 31 4013 c.3821C>T c.(3820-3822)TCC>TTC p.S1274F ANK3_uc001jkw.2_Missense_Mutation_p.S408F|ANK3_uc009xpa.2_Missense_Mutation_p.S408F|ANK3_uc001jkx.2_Missense_Mutation_p.S452F|ANK3_uc010qih.1_Missense_Mutation_p.S1275F|ANK3_uc001jkz.3_Missense_Mutation_p.S1268F|ANK3_uc001jla.1_Missense_Mutation_p.S340F|ANK3_uc001jlb.1_Missense_Mutation_p.S792F|ANK3_uc001jkv.2_5'Flank NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1274 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GGTTGTAAAGGAGACACAATC 0.388 NA 20 4 0 0 0.012319 0 0 MYPN 84665 broad.mit.edu 37 10 69959140 69959140 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:69959140C>T uc001jnm.3 + 18 3486 c.3301C>T c.(3301-3303)CCC>TCC p.P1101S MYPN_uc001jnn.3_Missense_Mutation_p.P826S|MYPN_uc001jno.3_Missense_Mutation_p.P1101S|MYPN_uc009xpt.2_Missense_Mutation_p.P1101S|MYPN_uc010qit.1_Missense_Mutation_p.P807S|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 1101 Ig-like 4.|Interaction with ACTN. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TGGTTTACCGCCCCCGGAGCT 0.507 NA 10 20 0 0 0.008291 0 0 SLC29A3 55315 broad.mit.edu 37 10 73122032 73122032 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:73122032C>T uc001jrr.3 + 6 1152 c.1095C>T c.(1093-1095)CTC>CTT p.L365L SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Silent_p.L219L|SLC29A3_uc001jrt.3_Silent_p.L159L|SLC29A3_uc001jru.3_Silent_p.L177L NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN solute carrier family 29 (nucleoside 365 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity 0 GCCGGCAGCTCACCGCCTGGA 0.597 Esophageal Squamous(200;1319 2142 18949 31248 39672) NA 32 146 0 0 0.008361 0 0 CYP2C19 1557 broad.mit.edu 37 10 96534866 96534866 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:96534866A>G uc010qnz.1 + 2 220 c.220A>G c.(220-222)ATG>GTG p.M74V CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.M52V NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 74 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCTGGAACGCATGGTGGTGCT 0.453 NA 52 28 0 0 0.01441 0 0 CHUK 1147 broad.mit.edu 37 10 101960516 101960516 + Nonsense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:101960516C>A uc001kqp.2 - 15 1646 c.1591G>T c.(1591-1593)GAG>TAG p.E531* NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 531 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) ATCTGATCCTCCAGGTATCCA 0.398 Ovarian(159;52 1904 10536 35305 37148) NA 7 51 1.26484e-09 1.49446e-09 0.00308 1 0 PAX2 5076 broad.mit.edu 37 10 102546746 102546746 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:102546746G>C uc001krk.3 + 6 1213 c.663G>C c.(661-663)TTG>TTC p.L221F PAX2_uc001krl.3_Intron|PAX2_uc001krm.3_Missense_Mutation_p.L221F|PAX2_uc001kro.3_Intron|PAX2_uc001krn.3_Intron|PAX2_uc010qps.1_Intron|PAX2_uc001krp.1_Intron NM_003990 NP_003981 Q02962 PAX2_HUMAN paired box protein 2 isoform e 221 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity 0 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GTGGAGGTTTGCATCTGGTCT 0.512 NA OREG0002760 type=REGULATORY REGION|Gene=PAX2(intragenic)|Dataset=Vista Enhancers|EvidenceSubtype=In-vivo LacZ Expression Assay 16 17 0 0 0.004007 0 0 C10orf118 55088 broad.mit.edu 37 10 115895981 115895981 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr10:115895981C>T uc001lbb.1 - 8 2003 c.1351G>A c.(1351-1353)GAG>AAG p.E451K C10orf118_uc009xyd.1_Missense_Mutation_p.E49K|C10orf118_uc001lbc.1_Missense_Mutation_p.E451K|C10orf118_uc009xye.1_RNA NM_018017 NP_060487 Q7Z3E2 CJ118_HUMAN CTCL tumor antigen L14-2 451 Potential. ovary(2) 2 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) GCATCAAGCTCATTTGATTTA 0.264 NA 5 40 0 0 0.000602 0 0 OR52B4 143496 broad.mit.edu 37 11 4388806 4388806 + Silent SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:4388806G>C uc010qye.1 - 1 720 c.720C>G c.(718-720)CTC>CTG p.L240L NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CAAATGTGTTGAGAGCTTTGT 0.453 NA 13 29 0 0 0.013537 0 0 OR52R1 119695 broad.mit.edu 37 11 4825663 4825663 + Missense_Mutation SNP T T A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:4825663T>A uc010qym.1 - 1 185 c.185A>T c.(184-186)TAT>TTT p.Y62F NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, Error:Variant_position_missing_in_Q8NGF1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGCAGATGATAACAATCAAA 0.403 NA 9 26 0 0 0.006214 0 0 OR51B5 282763 broad.mit.edu 37 11 5364617 5364617 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:5364617G>A uc001map.1 - 1 138 c.138C>T c.(136-138)CTC>CTT p.L46L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Silent_p.L46L NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 46 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCCTTAATGAGAAGAAGGA 0.493 NA 15 22 0 0 0.003163 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443687 5443687 + Missense_Mutation SNP T T G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:5443687T>G uc010qzd.1 + 1 257 c.257T>G c.(256-258)CTT>CGT p.L86R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCATGCAGCTTCTCTGGTTC 0.522 NA 14 62 0 0 0.00245 0 0 DNHD1 144132 broad.mit.edu 37 11 6523987 6523987 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:6523987C>G uc001mdw.3 + 4 1315 c.751C>G c.(751-753)CAG>GAG p.Q251E DNHD1_uc001mdp.2_Missense_Mutation_p.Q251E NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 251 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACACAGGTCTCAGCTTGACTA 0.493 NA 13 15 0 0 0.013537 0 0 RNF141 50862 broad.mit.edu 37 11 10555597 10555597 + Missense_Mutation SNP C C G rs149870408 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:10555597C>G uc001mis.1 - 2 262 c.109G>C c.(109-111)GAA>CAA p.E37Q RNF141_uc009yga.1_RNA|RNF141_uc001mit.1_Missense_Mutation_p.E37Q NM_016422 NP_057506 Q8WVD5 RN141_HUMAN ring finger protein 141 37 zinc ion binding 0 all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064) CCAAGAAATTCTTCATAAGTT 0.393 Ovarian(8;377 410 25844 26058 41491) NA 18 32 0 0 0.007413 0 0 MADD 8567 broad.mit.edu 37 11 47315475 47315475 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:47315475G>C uc001ner.1 + 22 3648 c.3457G>C c.(3457-3459)GAG>CAG p.E1153Q MADD_uc001neq.2_Missense_Mutation_p.E1115Q|MADD_uc001nev.1_Missense_Mutation_p.E1072Q|MADD_uc001nes.1_Missense_Mutation_p.E1092Q|MADD_uc001net.1_Missense_Mutation_p.E1135Q|MADD_uc009yln.1_Missense_Mutation_p.E1072Q|MADD_uc001neu.1_Missense_Mutation_p.E1072Q|MADD_uc001nex.2_Missense_Mutation_p.E1153Q|MADD_uc001nez.2_Missense_Mutation_p.E1072Q|MADD_uc001new.2_Missense_Mutation_p.E1115Q|MADD_uc009ylo.2_Missense_Mutation_p.E71Q NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1153 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) TGGTGAGACAGAGGAGAAAAA 0.478 NA 16 31 0 0 0.008871 0 0 OR4X2 119764 broad.mit.edu 37 11 48267148 48267148 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:48267148G>A uc001ngs.1 + 1 493 c.493G>A c.(493-495)GTG>ATG p.V165M NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGCCCCAATGTGATCAATCA 0.493 NA 78 191 0 0 0.01441 0 0 OR4P4 81300 broad.mit.edu 37 11 55406751 55406751 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:55406751G>A uc010rij.1 + 1 918 c.918G>A c.(916-918)CTG>CTA p.L306L NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AAATACTCCTGAAAAGAAATC 0.398 NA 8 24 0 0 0.00308 0 0 OR4S2 219431 broad.mit.edu 37 11 55418793 55418793 + Silent SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:55418793A>T uc001nhs.1 + 1 414 c.414A>T c.(412-414)ACA>ACT p.T138T NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 138 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) ACCGGGAGACATGCAATAAAA 0.438 NA 96 59 0 0 0.01441 0 0 OR5M10 390167 broad.mit.edu 37 11 56344765 56344765 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:56344765C>A uc001niz.1 - 1 433 c.433G>T c.(433-435)GTC>TTC p.V145F NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGCACAGTGACCAGAGAGATG 0.438 NA 58 32 5.86059e-21 7.45187e-21 0.01441 1 0 MS4A3 932 broad.mit.edu 37 11 59837144 59837144 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:59837144G>C uc001nom.2 + 6 739 c.611G>C c.(610-612)AGA>ACA p.R204T MS4A3_uc001non.2_Missense_Mutation_p.R158T|MS4A3_uc001noo.2_Missense_Mutation_p.R81T NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 204 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) TGTAATTCAAGAGAGGTGAGA 0.403 NA 97 68 0 0 0.01441 0 0 PHOX2A 401 broad.mit.edu 37 11 71952288 71952288 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:71952288C>T uc001osh.3 - 2 435 c.263G>A c.(262-264)CGC>CAC p.R88H NM_005169 NP_005160 O14813 PHX2A_HUMAN paired-like homeobox 2a 88 noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCGCTGCTTGCGCTTCTCGTG 0.647 NA 16 32 0 0 0.006122 0 0 CAPN5 726 broad.mit.edu 37 11 76833722 76833722 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:76833722C>G uc001oxx.2 + 12 1889 c.1704C>G c.(1702-1704)TTC>TTG p.F568L CAPN5_uc009yup.2_Missense_Mutation_p.F608L|CAPN5_uc009yuq.2_Missense_Mutation_p.F604L|CAPN5_uc001oxy.2_Missense_Mutation_p.F608L|CAPN5_uc001oya.2_Missense_Mutation_p.F130L NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 568 C2. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 AAGGCATCTTCTACCGCAAGA 0.582 NA 69 24 0 0 0.01441 0 0 PRCP 5547 broad.mit.edu 37 11 82536054 82536054 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:82536054T>C uc001ozs.2 - 9 1498 c.1385A>G c.(1384-1386)AAG>AGG p.K462R PRCP_uc001ozr.2_Missense_Mutation_p.K483R NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 462 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 CAAGGCATTCTTGGTGCGGAG 0.502 NA 17 39 0 0 0.006122 0 0 GRIA4 2893 broad.mit.edu 37 11 105774606 105774606 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:105774606C>A uc001pix.2 + 8 1398 c.952C>A c.(952-954)CAG>AAG p.Q318K GRIA4_uc001piu.1_Missense_Mutation_p.Q318K|GRIA4_uc001piw.2_Missense_Mutation_p.Q318K|GRIA4_uc009yxk.1_Missense_Mutation_p.Q318K NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 318 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCTTAGGAGGCAGAAAATTGA 0.443 NA 8 90 3.09899e-07 3.5417e-07 0.004482 1 0 FAM55B 120406 broad.mit.edu 37 11 114569363 114569363 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:114569363G>A uc009yyy.2 + 3 827 c.729G>A c.(727-729)CAG>CAA p.Q243Q NM_182495 NP_872301 Q96DL1 FA55B_HUMAN hypothetical protein LOC120406 243 integral to membrane ovary(1) 1 AACTGTGCCAGTACATGGATG 0.473 NA 16 40 0 0 0.004007 0 0 TECTA 7007 broad.mit.edu 37 11 121008503 121008503 + Silent SNP C C T rs142573400 byFrequency TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:121008503C>T uc010rzo.1 + 10 3315 c.3315C>T c.(3313-3315)TAC>TAT p.Y1105Y NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1105 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCTCAGGCTACGGCCACTACC 0.582 NA 5 31 0 0 0.000602 0 0 SORL1 6653 broad.mit.edu 37 11 121476152 121476152 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr11:121476152G>C uc001pxx.2 + 35 4900 c.4820G>C c.(4819-4821)AGC>ACC p.S1607T SORL1_uc010rzp.1_Missense_Mutation_p.S453T|SORL1_uc010rzq.1_Missense_Mutation_p.S222T NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1607 Extracellular (Potential).|Fibronectin type-III 1. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GAGACCCACAGCAATAAGACA 0.448 NA 22 151 0 0 0.014323 0 0 NINJ2 4815 broad.mit.edu 37 12 674430 674430 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:674430C>A uc001qil.2 - 3 629 c.538G>T c.(538-540)GCT>TCT p.A180S NM_016533 NP_057617 Q9NZG7 NINJ2_HUMAN ninjurin 2 134 Extracellular (Potential). nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane ovary(2) 2 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) GCCCTGGCAGCCAGGAACCCT 0.562 NA 15 35 0.000308642 0.000339595 0.003163 1 0 CACNA1C 775 broad.mit.edu 37 12 2760808 2760808 + Silent SNP C C T rs150092451 by1000genomes TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:2760808C>T uc009zdu.1 + 34 4405 c.4092C>T c.(4090-4092)AAC>AAT p.N1364N CACNA1C_uc009zdv.1_Silent_p.N1313N|CACNA1C_uc001qkb.2_Silent_p.N1316N|CACNA1C_uc001qkc.2_Silent_p.N1316N|CACNA1C_uc001qke.2_Silent_p.N1305N|CACNA1C_uc001qkf.2_Silent_p.N1305N|CACNA1C_uc001qjz.2_Silent_p.N1316N|CACNA1C_uc001qkd.2_Silent_p.N1316N|CACNA1C_uc001qkg.2_Silent_p.N1303N|CACNA1C_uc009zdw.1_Silent_p.N1338N|CACNA1C_uc001qkh.2_Silent_p.N1305N|CACNA1C_uc001qkl.2_Silent_p.N1364N|CACNA1C_uc001qkn.2_Silent_p.N1316N|CACNA1C_uc001qko.2_Silent_p.N1336N|CACNA1C_uc001qkp.2_Silent_p.N1316N|CACNA1C_uc001qkr.2_Silent_p.N1333N|CACNA1C_uc001qku.2_Silent_p.N1316N|CACNA1C_uc001qkq.2_Silent_p.N1344N|CACNA1C_uc001qks.2_Silent_p.N1316N|CACNA1C_uc001qkt.2_Silent_p.N1316N|CACNA1C_uc001qki.1_Silent_p.N1052N|CACNA1C_uc001qkj.1_Silent_p.N1052N|CACNA1C_uc001qkk.1_Silent_p.N1052N|CACNA1C_uc001qkm.1_Silent_p.N1041N|CACNA1C_uc010sea.1_Silent_p.N7N NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1364 Extracellular (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGTTCCAGAACGCAGAGGAAA 0.617 NA 28 73 0 0 0.013726 0 0 GDF3 9573 broad.mit.edu 37 12 7848123 7848123 + Nonsense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:7848123G>A uc001qte.2 - 1 238 c.202C>T c.(202-204)CGA>TGA p.R68* NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 68 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 CATAAGTCTCGGGAGACCCCA 0.498 NA 6 71 0 0 0.001168 0 0 A2ML1 144568 broad.mit.edu 37 12 8995850 8995850 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:8995850C>T uc001quz.3 + 12 1467 c.1369C>T c.(1369-1371)CGG>TGG p.R457W A2ML1_uc001qva.1_Missense_Mutation_p.R37W|A2ML1_uc010sgm.1_5'Flank NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 301 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TGGCATCCACCGGCTAAACGG 0.542 NA 10 129 0 0 0.008291 0 0 GPRC5D 55507 broad.mit.edu 37 12 13102817 13102817 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:13102817C>T uc010shp.1 - 1 502 c.502G>A c.(502-504)GTG>ATG p.V168M NM_018654 NP_061124 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, 168 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) ACAAAGTCCACATTGAGCTGG 0.478 NA 11 55 0 0 0.008291 0 0 PTPRO 5800 broad.mit.edu 37 12 15699627 15699627 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:15699627G>A uc001rcv.1 + 13 2463 c.2289G>A c.(2287-2289)CAG>CAA p.Q763Q PTPRO_uc001rcw.1_Silent_p.Q763Q|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 763 Fibronectin type-III 8.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) GCTCCAGTCAGAAAACCAAAC 0.393 NA 6 46 0 0 0.00308 0 0 ABCC9 10060 broad.mit.edu 37 12 22005368 22005368 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:22005368C>A uc001rfi.1 - 21 2597 c.2577G>T c.(2575-2577)CTG>CTT p.L859L ABCC9_uc001rfh.2_Silent_p.L859L|ABCC9_uc001rfj.1_Silent_p.L823L NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 859 Cytoplasmic (Potential).|ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGTCATCTTGCAGGAATTTCA 0.403 NA 7 73 1.06961e-07 1.23714e-07 0.00308 1 0 FAR2 55711 broad.mit.edu 37 12 29446406 29446406 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:29446406C>G uc001ris.3 + 3 510 c.363C>G c.(361-363)CTC>CTG p.L121L FAR2_uc001rit.2_Silent_p.L121L|FAR2_uc009zjm.2_Silent_p.L24L|uc001riu.1_RNA NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 121 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 ACGACACTCTCAGGTACATTC 0.378 NA 9 122 0 0 0.006214 0 0 ALG10B 144245 broad.mit.edu 37 12 38714744 38714744 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:38714744T>C uc001rln.3 + 3 1290 c.1151T>C c.(1150-1152)ATA>ACA p.I384T ALG10B_uc001rlo.3_Missense_Mutation_p.I354T|ALG10B_uc010skk.1_Missense_Mutation_p.I324T NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 384 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) GGTTGGAGTATAGCTGACTCA 0.308 NA 29 37 0 0 0.00632 0 0 PLEKHA9 51054 broad.mit.edu 37 12 45567729 45567729 + Missense_Mutation SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:45567729A>C uc001rom.1 - 3 957 c.420T>G c.(418-420)AGT>AGG p.S140R PLEKHA9_uc009zke.2_Missense_Mutation_p.S140R NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) TATTTTCCTCACTTGATATGC 0.318 NA 6 37 0 0 0.001168 0 0 OR8S1 341568 broad.mit.edu 37 12 48920124 48920124 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:48920124C>T uc010slu.1 + 1 710 c.710C>T c.(709-711)GCC>GTC p.A237V NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGAAGCAAGGCCTTCTCCACC 0.517 NA 17 71 0 0 0.00499 0 0 TENC1 23371 broad.mit.edu 37 12 53452199 53452199 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:53452199C>A uc001sbp.2 + 15 1330 c.1195C>A c.(1195-1197)CCC>ACC p.P399T TENC1_uc001sbl.2_Missense_Mutation_p.P275T|TENC1_uc001sbn.2_Missense_Mutation_p.P409T|TENC1_uc001sbo.1_Missense_Mutation_p.P399T|TENC1_uc001sbq.2_5'UTR|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase 399 C2 tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 GCTCACTTTCCCCAAGGACCA 0.498 NA 8 48 2.17888e-05 2.43224e-05 0.006214 1 0 USP15 9958 broad.mit.edu 37 12 62783422 62783422 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:62783422G>A uc001src.1 + 13 1604 c.1595G>A c.(1594-1596)AGA>AAA p.R532K USP15_uc001srb.1_Missense_Mutation_p.R503K NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 532 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) AGATTTCACAGAATATTCGCT 0.284 Melanoma(181;615 2041 39364 49691 50001) NA 19 92 0 0 0.010504 0 0 NAV3 89795 broad.mit.edu 37 12 78593140 78593140 + Nonsense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:78593140G>T uc001syp.2 + 37 6717 c.6544G>T c.(6544-6546)GAA>TAA p.E2182* NAV3_uc001syo.2_Nonsense_Mutation_p.E2160*|NAV3_uc010sub.1_Nonsense_Mutation_p.E1639*|NAV3_uc009zsf.2_Nonsense_Mutation_p.E991* NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2182 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAATCATACAGAACCAGTGAA 0.279 NA HNSCC(70;0.22) 11 26 9.05144e-12 1.08617e-11 0.001855 1 0 CDK17 5128 broad.mit.edu 37 12 96691485 96691485 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:96691485C>G uc001tep.1 - 8 1219 c.730G>C c.(730-732)GAT>CAT p.D244H CDK17_uc009ztk.2_Missense_Mutation_p.D244H|CDK17_uc010svb.1_Missense_Mutation_p.D191H NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 244 Protein kinase. ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 TGTTTTAAATCCTTTAATAGT 0.303 NA 17 44 0 0 0.00499 0 0 ANO4 121601 broad.mit.edu 37 12 101504206 101504206 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:101504206T>C uc010svm.1 + 23 2746 c.2174T>C c.(2173-2175)ATC>ACC p.I725T ANO4_uc001thw.2_Missense_Mutation_p.I690T|ANO4_uc001thx.2_Missense_Mutation_p.I725T|ANO4_uc001thy.2_Missense_Mutation_p.I245T NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 725 Helical; (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 TTCACAACTATCTTTGTGGCA 0.363 NA HNSCC(74;0.22) 12 45 0 0 0.00245 0 0 C12orf45 121053 broad.mit.edu 37 12 105380132 105380132 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:105380132T>C uc001tlb.2 + 1 35 c.2T>C c.(1-3)ATG>ACG p.M1T NM_152318 NP_689531 Q8N5I9 CL045_HUMAN hypothetical protein LOC121053 1 0 GAGGGAAGCATGGAGGTCCAT 0.652 NA 5 7 0 0 0.000602 0 0 RNF10 9921 broad.mit.edu 37 12 121001687 121001687 + Missense_Mutation SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:121001687A>T uc001typ.3 + 10 2089 c.1606A>T c.(1606-1608)AGG>TGG p.R536W RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.R447W NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 536 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGCCTGGAGAGGAGCCCCGA 0.567 NA 33 77 0 0 0.004289 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563160 129563160 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr12:129563160G>A uc009zyl.1 - 8 2362 c.2034C>T c.(2032-2034)CTC>CTT p.L678L TMEM132D_uc001uia.2_Silent_p.L216L NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 678 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) GCTGCAAGGAGAGTGACAGCC 0.572 NA 13 60 0 0 0.001855 0 0 USPL1 10208 broad.mit.edu 37 13 31205581 31205581 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr13:31205581C>G uc001utc.2 + 4 1270 c.838C>G c.(838-840)CTA>GTA p.L280V USPL1_uc001utb.2_Missense_Mutation_p.L99V|USPL1_uc001utd.2_Intron|USPL1_uc001ute.1_5'Flank NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 280 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) AAATACACTTCTATATACCAG 0.284 Ovarian(60;318 1180 1554 28110 31601) NA 24 11 0 0 0.00278 0 0 AKAP11 11215 broad.mit.edu 37 13 42877626 42877626 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr13:42877626C>G uc001uys.1 + 8 4919 c.4744C>G c.(4744-4746)CTT>GTT p.L1582V NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1582 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GTTGTCACCTCTTACAGGTCA 0.453 NA 17 18 0 0 0.004007 0 0 GPC6 10082 broad.mit.edu 37 13 95050757 95050757 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr13:95050757C>A uc001vlt.2 + 8 1959 c.1327C>A c.(1327-1329)CAG>AAG p.Q443K NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 443 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GCTCACCAACCAGATCAACAA 0.478 NA 19 20 7.87624e-14 9.66287e-14 0.00278 1 0 OR4M1 441670 broad.mit.edu 37 14 20248685 20248685 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:20248685C>A uc010tku.1 + 1 204 c.204C>A c.(202-204)CTC>CTA p.L68L NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTGGCCCTCCTTGATATTT 0.423 NA 69 460 3.13743e-37 4.04286e-37 0.01441 1 0 OR4K14 122740 broad.mit.edu 37 14 20482822 20482822 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:20482822G>A uc010tky.1 - 1 531 c.531C>T c.(529-531)AGC>AGT p.S177S NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CACAGAAGAAGCTGTCTACCT 0.488 NA 14 33 0 0 0.003163 0 0 ACIN1 22985 broad.mit.edu 37 14 23530555 23530555 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:23530555G>T uc001wit.3 - 17 3878 c.3550C>A c.(3550-3552)CGC>AGC p.R1184S ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R426S|ACIN1_uc001wiq.3_Missense_Mutation_p.R426S|ACIN1_uc001wir.3_Missense_Mutation_p.R457S|ACIN1_uc001wis.3_Missense_Mutation_p.R865S|ACIN1_uc010akg.2_Missense_Mutation_p.R1171S NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1184 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCCTTGCGGCGGCGGTCACGG 0.562 NA 16 82 0.00316338 0.00341218 0.003163 1 0 ACIN1 22985 broad.mit.edu 37 14 23549752 23549752 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:23549752C>G uc001wit.3 - 6 1294 c.966G>C c.(964-966)GAG>GAC p.E322D ACIN1_uc001wis.3_Missense_Mutation_p.E4D|ACIN1_uc010akg.2_Missense_Mutation_p.E322D|ACIN1_uc010tnj.1_Missense_Mutation_p.E282D NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 322 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTTTGGGTCTCTCATCCATCA 0.463 NA 14 50 0 0 0.005443 0 0 ACIN1 22985 broad.mit.edu 37 14 23549790 23549790 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:23549790C>G uc001wit.3 - 6 1256 c.928G>C c.(928-930)GAG>CAG p.E310Q ACIN1_uc001wis.3_5'UTR|ACIN1_uc010akg.2_Missense_Mutation_p.E310Q|ACIN1_uc010tnj.1_Missense_Mutation_p.E270Q NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 310 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CTAGGTATCTCTTCCCCTTCT 0.378 NA 19 58 0 0 0.003271 0 0 DAAM1 23002 broad.mit.edu 37 14 59830421 59830421 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:59830421C>G uc001xdz.1 + 24 2902 c.2777C>G c.(2776-2778)TCT>TGT p.S926C DAAM1_uc001xea.1_Missense_Mutation_p.S916C|DAAM1_uc001xec.1_RNA NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 926 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) AAGTTTGTGTCTGTTGTCAGC 0.463 NA 23 23 0 0 0.00278 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72169178 72169178 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:72169178C>T uc001xms.2 + 12 3950 c.3602C>T c.(3601-3603)ACG>ATG p.T1201M SIPA1L1_uc001xmt.2_Missense_Mutation_p.T1201M|SIPA1L1_uc001xmu.2_Missense_Mutation_p.T1201M|SIPA1L1_uc001xmv.2_Missense_Mutation_p.T1201M|SIPA1L1_uc010ttm.1_Missense_Mutation_p.T676M|SIPA1L1_uc001xmw.2_Translation_Start_Site NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1201 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGAAAATCCACGCCTAGCTGG 0.478 NA 25 28 0 0 0.00333 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962778 94962778 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:94962778C>A uc001ydj.2 - 4 1633 c.837G>T c.(835-837)AAG>AAT p.K279N NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 279 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) AGTGCTTCAGCTTGCCCTCAT 0.473 NA 50 71 3.94638e-17 4.95232e-17 0.01441 1 0 MTA1 9112 broad.mit.edu 37 14 105911754 105911754 + Splice_Site SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr14:105911754G>C uc001yqx.2 + 3 284 c.97_splice c.e3-1 p.T33_splice MTA1_uc001yqy.2_Splice_Site|MTA1_uc001yqz.1_Splice_Site|MTA1_uc001yra.1_Splice_Site NM_004689 NP_004680 Q13330 MTA1_HUMAN metastasis associated protein signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1) 2 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) TGCTGTTACAGACGGCCAATG 0.647 NA 20 50 0 0 0.014323 0 0 HERC2 8924 broad.mit.edu 37 15 28517458 28517458 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:28517458G>C uc001zbj.2 - 9 1092 c.986C>G c.(985-987)TCC>TGC p.S329C HERC2_uc001zbl.1_Missense_Mutation_p.S24C NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 329 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCCCTGGGCGGAACGCTCATT 0.542 NA 5 23 0 0 0.000602 0 0 C15orf54 400360 broad.mit.edu 37 15 39544847 39544847 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:39544847G>A uc001zkg.2 + 2 879 c.511G>A c.(511-513)GAA>AAA p.E171K NM_207445 NP_997328 Q8N8G6 CO054_HUMAN hypothetical protein LOC400360 171 0 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) TCATTTCATTGAAGTGTTCAA 0.453 NA 22 38 0 0 0.012319 0 0 CDAN1 146059 broad.mit.edu 37 15 43020852 43020852 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:43020852C>T uc001zql.2 - 20 2919 c.2802G>A c.(2800-2802)CGG>CGA p.R934R CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.R260R NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 934 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CTGCTTACTCCCGCCCCAGGG 0.408 NA 18 42 0 0 0.010504 0 0 CILP 8483 broad.mit.edu 37 15 65499247 65499247 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:65499247C>A uc002aon.2 - 4 478 c.297G>T c.(295-297)TGG>TGT p.W99C NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 99 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CCGCAGGTGTCCAGTCAGTGG 0.632 NA 12 17 3.07112e-06 3.44827e-06 0.010729 1 0 HCN4 10021 broad.mit.edu 37 15 73614946 73614946 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:73614946G>T uc002avp.2 - 8 4482 c.3488C>A c.(3487-3489)CCC>CAC p.P1163H NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 1163 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) AGACAGAGGGGGTGGCAAAGA 0.677 NA 11 10 2.80697e-09 3.30637e-09 0.010729 1 0 ISLR2 57611 broad.mit.edu 37 15 74425518 74425518 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:74425518C>T uc002axd.2 + 4 1192 c.423C>T c.(421-423)GAC>GAT p.D141D ISLR2_uc002axe.2_Silent_p.D141D|ISLR2_uc010bjg.2_Silent_p.D141D|ISLR2_uc010bjf.2_Silent_p.D141D NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 141 LRR 4.|Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 TGCCCCGGGACGCACTCGGTG 0.637 NA 10 104 0 0 0.006214 0 0 ALPK3 57538 broad.mit.edu 37 15 85411403 85411403 + Nonsense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:85411403C>T uc002ble.2 + 14 5607 c.5440C>T c.(5440-5442)CAG>TAG p.Q1814* ALPK3_uc010upc.1_Nonsense_Mutation_p.Q115* NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1814 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTCCTCCCACCAGTGCAATGC 0.632 NA 118 134 0 0 0.01441 0 0 NTRK3 4916 broad.mit.edu 37 15 88423650 88423650 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:88423650G>A uc002bme.1 - 18 2347 c.2185C>T c.(2185-2187)CAC>TAC p.H729Y NTRK3_uc002bmh.2_Missense_Mutation_p.H707Y|NTRK3_uc002bmf.1_Missense_Mutation_p.H715Y NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 729 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCATGGTGTGTCCTCCCACC 0.507 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 4 51 0 0 0.000602 0 0 UNC45A 55898 broad.mit.edu 37 15 91479540 91479540 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr15:91479540C>G uc002bqg.2 + 4 616 c.276C>G c.(274-276)GTC>GTG p.V92V UNC45A_uc002bqd.2_Silent_p.V77V|UNC45A_uc010uqo.1_Silent_p.V84V|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Silent_p.V92V NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 92 TPR 3. cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GTGGGGATGTCAAAGCACTCT 0.577 NA 42 69 0 0 0.01441 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266186 3266186 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:3266186C>A uc010uwv.1 + 1 625 c.477C>A c.(475-477)CAC>CAA p.H159Q NR_002169 RecName: Full=Olfactory receptor 1F2; AltName: Full=OLFmf2; 0 CAGACACACACCTCAGTGAAG 0.522 NA 32 31 5.45727e-16 6.80387e-16 0.008361 1 0 DNAH3 55567 broad.mit.edu 37 16 20996669 20996669 + Silent SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:20996669T>C uc010vbe.1 - 48 7395 c.7395A>G c.(7393-7395)GCA>GCG p.A2465A DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2465 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGTCATTGCCTGCGTAGTTCT 0.537 NA 31 14 0 0 0.007291 0 0 DNAH3 55567 broad.mit.edu 37 16 21069459 21069459 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:21069459G>T uc010vbe.1 - 27 3872 c.3872C>A c.(3871-3873)TCC>TAC p.S1291Y NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1291 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CCAAAAGATGGAGGAGACACA 0.488 NA 8 44 0.00621372 0.00668366 0.006214 1 0 RABEP2 79874 broad.mit.edu 37 16 28916339 28916339 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:28916339A>G uc002drq.2 - 13 1683 c.1635T>C c.(1633-1635)GCT>GCC p.A545A uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.A474A|RABEP2_uc010byn.2_Silent_p.A509A NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 545 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 CCAGGGTCTCAGCCTGGCGGA 0.652 Pancreas(66;639 1284 10093 31061 49099) NA 18 17 0 0 0.007413 0 0 HSD3B7 80270 broad.mit.edu 37 16 30999232 30999232 + Nonsense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:30999232G>T uc002eaf.2 + 7 944 c.838G>T c.(838-840)GGA>TGA p.G280* HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Nonsense_Mutation_p.G280* NM_025193 NP_079469 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- 280 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity 0 GGGCCCCTGCGGACTGCGGCT 0.642 NA 114 76 4.37143e-48 5.67104e-48 0.01441 1 0 ZNF423 23090 broad.mit.edu 37 16 49672682 49672682 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:49672682G>A uc002efs.2 - 5 679 c.381C>T c.(379-381)CTC>CTT p.L127L ZNF423_uc010vgn.1_Silent_p.L10L NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 127 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CCTCCTCGCCGAGGCCGAGGT 0.602 NA 28 15 0 0 0.005443 0 0 PDPR 55066 broad.mit.edu 37 16 70166109 70166109 + Silent SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:70166109G>T uc002eyf.1 + 9 1860 c.903G>T c.(901-903)CTG>CTT p.L301L CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Silent_p.L201L|PDPR_uc002eyg.1_Silent_p.L29L NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 301 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) GTGGCATCCTGTCTGGGGGCT 0.468 NA 23 59 3.62531e-18 4.56432e-18 0.004289 1 0 MTHFSD 64779 broad.mit.edu 37 16 86565716 86565716 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:86565716G>A uc002fjn.2 - 8 1104 c.1053C>T c.(1051-1053)GAC>GAT p.D351D MTHFSD_uc010voo.1_Silent_p.D331D|MTHFSD_uc002fjo.2_Silent_p.D188D|MTHFSD_uc002fjm.2_Silent_p.D350D|MTHFSD_uc010vop.1_Silent_p.D188D|MTHFSD_uc010voq.1_Silent_p.D350D|MTHFSD_uc010vor.1_Silent_p.D351D NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 351 RRM. folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 CTGCGGCAGAGTCCGGGTAAT 0.701 NA 7 20 0 0 0.001984 0 0 TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:7577127C>T uc002gim.2 - 8 1005 c.811G>A c.(811-813)GAG>AAG p.E271K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 271 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACGCACCTCAAAGCTGTTC 0.537 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 10 0 0 0.001855 0 0 MYOCD 93649 broad.mit.edu 37 17 12666905 12666905 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:12666905G>C uc002gnn.2 + 13 3060 c.2761G>C c.(2761-2763)GAT>CAT p.D921H MYOCD_uc002gno.2_Missense_Mutation_p.D969H|MYOCD_uc002gnq.2_Missense_Mutation_p.D645H NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 921 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CGATTTCCTGGATGTCACTGA 0.512 NA 3 34 0 0 0.004672 0 0 ELAC2 60528 broad.mit.edu 37 17 12905612 12905612 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:12905612C>A uc002gnz.3 - 14 1378 c.1283G>T c.(1282-1284)CGT>CTT p.R428L ELAC2_uc002gnu.3_5'Flank|ELAC2_uc002gnv.3_Missense_Mutation_p.R56L|ELAC2_uc002gnw.3_Missense_Mutation_p.R86L|ELAC2_uc002gnx.3_Missense_Mutation_p.R188L|ELAC2_uc010vvo.1_Missense_Mutation_p.R226L|ELAC2_uc010vvp.1_Missense_Mutation_p.R409L|ELAC2_uc010vvq.1_Missense_Mutation_p.R427L|ELAC2_uc010vvr.1_Missense_Mutation_p.R388L NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN elaC homolog 2 isoform 1 428 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding 0 CCTCCTGGGACGGAGCTGGTA 0.423 NA Hereditary_Prostate_Cancer 14 30 1.3612e-06 1.54189e-06 0.003163 1 0 FLCN 201163 broad.mit.edu 37 17 17131313 17131313 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:17131313C>G uc002gra.3 - 4 643 c.139G>C c.(139-141)GAA>CAA p.E47Q PLD6_uc010cpn.2_RNA|FLCN_uc002grb.3_Missense_Mutation_p.E47Q|FLCN_uc002grc.2_Missense_Mutation_p.E47Q NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 47 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 CCTTCCTCTTCTTCCGCCTGC 0.652 NA Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer 19 24 0 0 0.008871 0 0 MYO15A 51168 broad.mit.edu 37 17 18051508 18051508 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:18051508C>T uc010vxh.1 + 30 7013 c.6675C>T c.(6673-6675)GAC>GAT p.D2225D NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 2225 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TGGCGCTGGACGTGGGCTGCT 0.672 NA 5 34 0 0 0.001984 0 0 SSH2 85464 broad.mit.edu 37 17 27959598 27959598 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:27959598C>T uc002heo.1 - 15 2533 c.2533G>A c.(2533-2535)GAG>AAG p.E845K SSH2_uc010wbh.1_Missense_Mutation_p.E872K NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 845 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TGTTCCCCCTCAGCTGGTTCC 0.577 NA 23 177 0 0 0.014323 0 0 SYNRG 11276 broad.mit.edu 37 17 35937553 35937553 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:35937553C>G uc002hoa.2 - 7 831 c.748G>C c.(748-750)GAT>CAT p.D250H SYNRG_uc010wde.1_Intron|SYNRG_uc010wdf.1_Intron|SYNRG_uc002hoc.2_Intron|SYNRG_uc002hoe.2_Intron|SYNRG_uc002hod.2_Intron|SYNRG_uc010wdg.1_Intron|SYNRG_uc002hob.2_Missense_Mutation_p.D250H|SYNRG_uc002hof.2_5'Flank|SYNRG_uc010cvd.1_Intron|SYNRG_uc002hog.1_Missense_Mutation_p.D384H|SYNRG_uc010wdh.1_Missense_Mutation_p.D351H NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 250 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 ACACATCCATCTACAGCAACC 0.438 NA 117 518 0 0 0.01441 0 0 FBXL20 84961 broad.mit.edu 37 17 37425091 37425091 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:37425091C>T uc010wed.1 - 12 1143 c.922G>A c.(922-924)GAG>AAG p.E308K FBXL20_uc002hrt.2_Missense_Mutation_p.E308K|FBXL20_uc010cvu.2_Missense_Mutation_p.E276K NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 308 LRR 9. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) TGAACACACTCTTCCAGGTCC 0.328 NA 28 223 0 0 0.009535 0 0 CDK12 51755 broad.mit.edu 37 17 37619117 37619117 + Missense_Mutation SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:37619117A>C uc010cvv.2 + 1 1379 c.793A>C c.(793-795)AGT>CGT p.S265R CDK12_uc010wef.1_Missense_Mutation_p.S265R|CDK12_uc002hrw.3_Missense_Mutation_p.S265R NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 265 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 CTACAAGAAAAGTCCTGGAAG 0.537 NA TCGA Ovarian(9;0.13) 29 304 0 0 0.00632 0 0 THRA 7067 broad.mit.edu 37 17 38243028 38243028 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:38243028C>T uc002htw.2 + 7 1128 c.645C>T c.(643-645)TTC>TTT p.F215F THRA_uc010cwp.1_Silent_p.F215F|THRA_uc002htv.2_Silent_p.F215F|THRA_uc002htx.2_Silent_p.F215F NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 215 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TGGAAGCCTTCAGCGAGTTTA 0.582 NA OREG0024390 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 142 0 0 0.006214 0 0 THRA 7067 broad.mit.edu 37 17 38244755 38244755 + Splice_Site SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:38244755T>C uc002htw.2 + 8 1465 c.982_splice c.e8+2 p.D328_splice THRA_uc010cwp.1_Splice_Site_p.D328_splice|THRA_uc002htv.2_Splice_Site_p.D328_splice|THRA_uc002htx.2_Splice_Site_p.D328_splice NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TGTCAACAGGTACCTGCTGAT 0.557 NA 12 236 0 0 0.013537 0 0 KRT10 3858 broad.mit.edu 37 17 38975393 38975393 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:38975393C>T uc002hvi.2 - 7 1420 c.1394G>A c.(1393-1395)GGC>GAC p.G465D KRT10_uc010cxd.2_Intron|TMEM99_uc002hvj.1_5'UTR NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 465 Gly-rich.|Tail. epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) acttccgccgccgcgtccgcc 0.184 NA 11 22 0 0 0.013537 0 0 KRT17 3872 broad.mit.edu 37 17 39777023 39777023 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:39777023G>A uc002hxh.2 - 6 1190 c.1069C>T c.(1069-1071)CGC>TGC p.R357C JUP_uc010wfs.1_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 357 Coil 2.|Rod. R -> L (in Ref. 4; AL353997/AC022596). epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) ATCTCGCAGCGAAGCTGGGCC 0.627 Pancreas(92;1242 2086 39193 50508) NA Steatocystoma_Multiplex 20 120 0 0 0.012319 0 0 HOXB2 3212 broad.mit.edu 37 17 46620955 46620955 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:46620955G>A uc002inm.2 - 2 666 c.546C>T c.(544-546)CTC>CTT p.L182L NM_002145 NP_002136 P14652 HXB2_HUMAN homeobox B2 182 Homeobox. blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCTTTCGGTGAGGTCCAGCA 0.612 NA 28 182 0 0 0.009535 0 0 CYB561 1534 broad.mit.edu 37 17 61511886 61511886 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:61511886G>A uc002jap.2 - 5 1035 c.633C>T c.(631-633)TTC>TTT p.F211F CYB561_uc002jaq.2_Silent_p.F257F|CYB561_uc002jar.2_Silent_p.F211F|CYB561_uc002jas.2_Silent_p.F211F|CYB561_uc010ddt.2_3'UTR|CYB561_uc002jat.2_Silent_p.F211F|CYB561_uc010wpf.1_3'UTR|CYB561_uc010wpg.1_Silent_p.F182F NM_001915 NP_001906 P49447 CY561_HUMAN cytochrome b-561 211 Cytochrome b561.|Helical; (Potential). electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding ovary(1) 1 READ - Rectum adenocarcinoma(1115;0.0689) CCGCCCCACCGAAGCAGGCCA 0.652 NA 5 36 0 0 0.000602 0 0 KIAA0195 9772 broad.mit.edu 37 17 73485368 73485368 + Silent SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr17:73485368G>T uc002jnz.3 + 8 1061 c.786G>T c.(784-786)CTG>CTT p.L262L KIAA0195_uc010wsa.1_Silent_p.L272L|KIAA0195_uc010wsb.1_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 262 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) ACATGGCCCTGTCCCGACCAG 0.582 NA 10 29 4.68919e-08 5.44003e-08 0.008291 1 0 EPB41L3 23136 broad.mit.edu 37 18 5489114 5489114 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:5489114C>A uc002kmt.1 - 2 155 c.69G>T c.(67-69)GCG>GCT p.A23A EPB41L3_uc010wzh.1_Silent_p.A23A|EPB41L3_uc002kmu.1_Silent_p.A23A|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.A45A|EPB41L3_uc002kmv.1_5'UTR NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 23 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 cctgcgcccccgccgccTCCT 0.517 NA 19 20 7.45023e-12 8.9683e-12 0.010504 1 0 CEP76 79959 broad.mit.edu 37 18 12686344 12686344 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:12686344C>G uc002kri.2 - 8 1195 c.1039G>C c.(1039-1041)GGT>CGT p.G347R PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.G169R|CEP76_uc010wzz.1_Missense_Mutation_p.G272R|CEP76_uc010xaa.1_Missense_Mutation_p.G169R NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 347 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding 0 CGTTCATAACCAAGGACATTA 0.443 NA 9 20 0 0 0.006214 0 0 C18orf19 125228 broad.mit.edu 37 18 13682015 13682015 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:13682015T>C uc010dlh.2 - 3 494 c.62A>G c.(61-63)CAT>CGT p.H21R C18orf19_uc010dlg.2_Missense_Mutation_p.H21R|C18orf19_uc010dli.2_Missense_Mutation_p.H21R|C18orf19_uc002ksj.3_Missense_Mutation_p.H21R|C18orf19_uc010dlj.2_Intron NM_001098801 NP_001092271 Q96ND0 CR019_HUMAN hypothetical protein LOC125228 21 integral to membrane breast(2) 2 ACCAGCATTATGTGGTTCCAA 0.418 NA 16 49 0 0 0.00499 0 0 KIAA0427 9811 broad.mit.edu 37 18 46343675 46343675 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:46343675C>T uc002ldc.2 + 10 1740 c.1455C>T c.(1453-1455)TTC>TTT p.F485F KIAA0427_uc002ldd.2_Silent_p.F487F|KIAA0427_uc002lde.3_Silent_p.F114F NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 485 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 GCGAGGTCTTCGGCACCATGC 0.647 NA 12 48 0 0 0.013537 0 0 MBD1 4152 broad.mit.edu 37 18 47801575 47801575 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr18:47801575A>G uc010dow.1 - 9 1270 c.833T>C c.(832-834)ATG>ACG p.M278T MBD1_uc002lef.2_Missense_Mutation_p.M85T|MBD1_uc002leg.2_Missense_Mutation_p.M229T|MBD1_uc010xdi.1_Missense_Mutation_p.M329T|MBD1_uc002leh.3_Missense_Mutation_p.M278T|MBD1_uc002len.2_Missense_Mutation_p.M278T|MBD1_uc002lei.3_Missense_Mutation_p.M278T|MBD1_uc002lej.3_Missense_Mutation_p.M278T|MBD1_uc002lek.3_Missense_Mutation_p.M229T|MBD1_uc002lel.3_Missense_Mutation_p.M278T|MBD1_uc002lem.3_Missense_Mutation_p.M278T|MBD1_uc010xdj.1_Missense_Mutation_p.M278T|MBD1_uc010xdk.1_Missense_Mutation_p.M303T|MBD1_uc010dox.1_Missense_Mutation_p.M278T|MBD1_uc002leo.2_Missense_Mutation_p.M278T NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 278 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCTGGCAGCCATCTTGGAGTC 0.647 NA 14 47 0 0 0.00499 0 0 ZNF77 58492 broad.mit.edu 37 19 2934107 2934107 + Nonsense_Mutation SNP G G A rs146879198 byFrequency TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:2934107G>A uc002lws.3 - 4 1149 c.1018C>T c.(1018-1020)CGA>TGA p.R340* NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 340 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CCATGTTCTCGAAGAGACGAG 0.493 NA 24 47 0 0 0.014323 0 0 SEMA6B 10501 broad.mit.edu 37 19 4548324 4548324 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:4548324A>G uc010duc.1 - 12 1443 c.1405T>C c.(1405-1407)TCT>CCT p.S469P SEMA6B_uc010dud.2_Missense_Mutation_p.S469P|SEMA6B_uc010xih.1_Missense_Mutation_p.S469P NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 469 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CTGAGCCCAGACGTCCCTGAG 0.647 NA 36 25 0 0 0.004289 0 0 KEAP1 9817 broad.mit.edu 37 19 10602822 10602822 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:10602822C>A uc002moq.1 - 3 912 c.756G>T c.(754-756)TGG>TGT p.W252C KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.W252C NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 252 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGTACTTGACCCAGTTGATGC 0.622 NA 44 23 1.8453e-21 2.35413e-21 0.010771 1 0 CYP4F3 4051 broad.mit.edu 37 19 15760024 15760024 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:15760024C>T uc002nbj.2 + 6 630 c.580C>T c.(580-582)CAC>TAC p.H194Y CYP4F3_uc010xok.1_Missense_Mutation_p.H194Y|CYP4F3_uc010xol.1_Missense_Mutation_p.H194Y|CYP4F3_uc010xom.1_Missense_Mutation_p.H45Y|CYP4F3_uc002nbk.2_Missense_Mutation_p.H194Y|CYP4F3_uc010xon.1_5'Flank NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 194 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 CATGTTTGAGCACATCAGCCT 0.577 NA 73 30 0 0 0.01441 0 0 ZFP14 57677 broad.mit.edu 37 19 36831959 36831959 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:36831959C>T uc002odx.1 - 4 862 c.769G>A c.(769-771)GAA>AAA p.E257K ZFP14_uc010xtd.1_Missense_Mutation_p.E258K|ZFP14_uc010eex.1_Missense_Mutation_p.E257K NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 257 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TCCTTACATTCATAGGGTTTT 0.448 NA 57 26 0 0 0.01441 0 0 MEGF8 1954 broad.mit.edu 37 19 42861133 42861133 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:42861133G>A uc002otl.3 + 26 5264 c.4629G>A c.(4627-4629)AAG>AAA p.K1543K MEGF8_uc002otm.3_Silent_p.K1151K NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1610 Extracellular (Potential).|Kelch 8. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GGCAGGAGAAGGTGAGCATCT 0.622 NA 5 9 0 0 0.001168 0 0 TMEM143 55260 broad.mit.edu 37 19 48845932 48845932 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:48845932T>C uc002pix.1 - 6 839 c.830A>G c.(829-831)CAG>CGG p.Q277R TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.Q242R|TMEM143_uc010xzn.1_Missense_Mutation_p.Q212R|TMEM143_uc010elw.1_Missense_Mutation_p.Q177R|TMEM143_uc010xzo.1_Missense_Mutation_p.Q67R NM_018273 NP_060743 Q96AN5 TM143_HUMAN transmembrane protein 143 277 integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) CAGGGCGCGCTGCAGGGTGGG 0.637 NA 3 34 0 0 0.004672 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49969066 49969066 + Missense_Mutation SNP T T A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:49969066T>A uc002pnt.2 + 13 1756 c.1640T>A c.(1639-1641)ATC>AAC p.I547N ALDH16A1_uc010yar.1_Missense_Mutation_p.I496N|ALDH16A1_uc010yas.1_Missense_Mutation_p.I382N|ALDH16A1_uc010yat.1_Missense_Mutation_p.I384N NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 547 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TCCAGGCCCATCCGGGATTCG 0.647 NA 4 30 0 0 0.009096 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021288 51021288 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:51021288G>A uc002pss.2 - 3 1819 c.1682C>T c.(1681-1683)ACG>ATG p.T561M NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 561 Extracellular (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GGCGTTCTCCGTCACATCCGT 0.657 NA 12 27 0 0 0.010729 0 0 ZNF175 7728 broad.mit.edu 37 19 52090283 52090283 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:52090283C>T uc002pxb.2 + 5 1077 c.699C>T c.(697-699)TTC>TTT p.F233F NM_007147 NP_009078 Q9Y473 ZN175_HUMAN zinc finger protein 175 233 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GTCAGCTATTCAGCCATAGCT 0.423 NA 18 33 0 0 0.007413 0 0 ZNF528 84436 broad.mit.edu 37 19 52905244 52905244 + Translation_Start_Site SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:52905244A>T uc002pzh.2 + 4 404 c.-22A>T c.(-24--20)GAAGA>GATGA ZNF528_uc002pzi.2_Translation_Start_Site NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) GCAACTTGGAAGAGGAAAGAA 0.418 NA 7 14 0 0 0.00308 0 0 BIRC8 112401 broad.mit.edu 37 19 53793115 53793115 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:53793115C>G uc002qbk.2 - 1 1761 c.513G>C c.(511-513)CAG>CAC p.Q171H NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 171 apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) TGATTTCTCTCTGCAATGAAG 0.433 NA 23 48 0 0 0.012319 0 0 NLRP7 199713 broad.mit.edu 37 19 55452960 55452960 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:55452960C>T uc002qih.3 - 2 196 c.120G>A c.(118-120)AAG>AAA p.K40K NLRP7_uc002qig.3_Silent_p.K40K|NLRP7_uc002qii.3_Silent_p.K40K|NLRP7_uc010esk.2_Silent_p.K40K|NLRP7_uc010esl.2_Silent_p.K68K NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 40 DAPIN. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) ACCATGGGGTCTTCTGTAGCA 0.478 NA 25 56 0 0 0.00333 0 0 USP29 57663 broad.mit.edu 37 19 57640670 57640670 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:57640670C>G uc002qny.2 + 4 983 c.627C>G c.(625-627)AAC>AAG p.N209K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 209 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATAGGAAGAACCCATCAAGTT 0.353 NA 10 54 0 0 0.008291 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565065 58565065 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:58565065C>T uc002qrc.1 + 6 1120 c.873C>T c.(871-873)CCC>CCT p.P291P NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 291 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GTGGGCGGCCCTTCCAGTGTG 0.652 NA 6 65 0 0 0.001984 0 0 ZNF544 27300 broad.mit.edu 37 19 58773169 58773169 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr19:58773169G>C uc010euo.2 + 7 1671 c.1197G>C c.(1195-1197)CAG>CAC p.Q399H ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Missense_Mutation_p.Q371H|ZNF544_uc010yhy.1_Missense_Mutation_p.Q371H|ZNF544_uc002qrt.3_Missense_Mutation_p.Q257H|ZNF544_uc002qru.3_Missense_Mutation_p.Q257H|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 399 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TCATACATCAGAGGACACACA 0.463 NA 9 53 0 0 0.006214 0 0 PXDN 7837 broad.mit.edu 37 2 1657494 1657494 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:1657494A>G uc002qxa.2 - 16 2074 c.2010T>C c.(2008-2010)GTT>GTC p.V670V PXDN_uc002qxb.1_Silent_p.V670V NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 670 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GTGCCTGTTCAACTGTGTAAG 0.498 NA 4 2 0 0 0.009096 0 0 C2orf48 348738 broad.mit.edu 37 2 10282472 10282472 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:10282472A>G uc002rai.1 + 3 452 c.163A>G c.(163-165)AGT>GGT p.S55G NM_182626 NP_872432 Q96LS8 CB048_HUMAN hypothetical protein LOC348738 55 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188) ggggtgcgccagtggaagcgg 0.104 NA 19 101 0 0 0.00278 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27886720 27886720 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:27886720G>A uc002rlk.3 + 1 383 c.101G>A c.(100-102)AGG>AAG p.R34K SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 34 cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) GACGTGGACAGGAACGTAAAG 0.572 NA 21 80 0 0 0.008871 0 0 ALK 238 broad.mit.edu 37 2 30142880 30142880 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:30142880G>C uc002rmy.2 - 1 1553 c.646C>G c.(646-648)CTC>GTC p.L216V NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 216 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) ATCTGGAAGAGAAGGCGGGGC 0.562 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 19 12 0 0 0.010504 0 0 GALNT14 79623 broad.mit.edu 37 2 31165110 31165110 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:31165110C>T uc002rnr.2 - 9 1507 c.888G>A c.(886-888)GGG>GGA p.G296G GALNT14_uc002rnq.2_Silent_p.G276G|GALNT14_uc002rns.2_Silent_p.G301G|GALNT14_uc010ymr.1_Silent_p.G261G|GALNT14_uc010ezo.1_Silent_p.G263G|GALNT14_uc010ezp.1_Intron NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 296 Lumenal (Potential).|Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) TATCATATTTCCCCAGGTAAT 0.493 NA 48 19 0 0 0.01441 0 0 BIRC6 57448 broad.mit.edu 37 2 32800426 32800426 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:32800426C>T uc010ezu.2 + 66 13482 c.13348C>T c.(13348-13350)CGT>TGT p.R4450C NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4450 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTATACCAACCGTTTAAGGTA 0.358 Pancreas(94;175 1509 16028 18060 45422) NA 43 26 0 0 0.00874 0 0 EPAS1 2034 broad.mit.edu 37 2 46607470 46607470 + Silent SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:46607470G>C uc002ruv.2 + 12 2147 c.1659G>C c.(1657-1659)GCG>GCC p.A553A EPAS1_uc002ruw.2_Silent_p.A19A NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 553 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GGCTCTTGGCGGAGAACCCAC 0.597 NA 108 39 0 0 0.01441 0 0 NRXN1 9378 broad.mit.edu 37 2 50149334 50149334 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:50149334G>A uc010fbp.2 - 6 1884 c.1077C>T c.(1075-1077)ATC>ATT p.I359I NRXN1_uc002rxb.3_Silent_p.I1093I|NRXN1_uc010fbq.2_Silent_p.I1464I|NRXN1_uc002rxe.3_Silent_p.I1394I|NRXN1_uc010yon.1_Silent_p.I59I|NRXN1_uc002rxa.3_Silent_p.I56I NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 359 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGGACTCCCGGATCACTTCTG 0.532 NA 15 41 0 0 0.004007 0 0 VPS54 51542 broad.mit.edu 37 2 64169644 64169644 + Silent SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:64169644G>C uc002scq.2 - 11 1516 c.1353C>G c.(1351-1353)CTC>CTG p.L451L VPS54_uc002scp.2_Silent_p.L439L|VPS54_uc010fct.2_Silent_p.L298L NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 isoform 1 451 protein transport|retrograde transport, endosome to Golgi 0 AAATATCCTTGAGCAGATCAA 0.328 NA 12 12 0 0 0.003163 0 0 C2orf78 388960 broad.mit.edu 37 2 74042383 74042383 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:74042383C>T uc002sjr.1 + 3 1154 c.1033C>T c.(1033-1035)CTC>TTC p.L345F NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 345 ovary(2) 2 TCCTACTAATCTCTTGACACT 0.438 NA 26 32 0 0 0.00333 0 0 LIPT1 51601 broad.mit.edu 37 2 99778437 99778437 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:99778437C>T uc002szm.3 + 4 357 c.17C>T c.(16-18)TCA>TTA p.S6L MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Missense_Mutation_p.S6L|LIPT1_uc002szo.3_Missense_Mutation_p.S6L|LIPT1_uc002szp.3_Missense_Mutation_p.S6L|LIPT1_uc002szq.3_Missense_Mutation_p.S6L|MRPL30_uc002szr.2_Intron NM_145198 NP_660199 Q9Y234 LIPT_HUMAN lipoyltransferase 1 precursor 6 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity 0 Lipoic Acid(DB00166) ATCCCATTTTCAATGAAGAAT 0.323 GBM(84;665 1268 21657 25485 30647) NA 17 12 0 0 0.007413 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460238 107460238 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:107460238G>T uc002tdq.2 - 2 315 c.196C>A c.(196-198)CAT>AAT p.H66N ST6GAL2_uc002tdr.2_Missense_Mutation_p.H66N|ST6GAL2_uc002tds.3_Missense_Mutation_p.H66N NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 66 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GAGGGCTCATGTGCGGCGCCC 0.706 NA 7 39 5.4927e-09 6.43048e-09 0.004482 1 0 ARHGEF4 50649 broad.mit.edu 37 2 131797647 131797647 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:131797647G>A uc002tsa.1 + 7 1326 c.806G>A c.(805-807)GGA>GAA p.G269E ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.G269E|ARHGEF4_uc010fmx.1_Missense_Mutation_p.G269E|ARHGEF4_uc002tsc.1_5'UTR NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 269 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GGGAACAGCGGAGCGGAGGAC 0.672 NA 5 12 0 0 0.000602 0 0 CCDC148 130940 broad.mit.edu 37 2 159196885 159196885 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:159196885G>C uc002tzq.2 - 5 618 c.355C>G c.(355-357)CAG>GAG p.Q119E CCDC148_uc002tzr.2_Intron|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Missense_Mutation_p.Q66E|CCDC148_uc010foj.1_Intron|CCDC148_uc010fok.1_Missense_Mutation_p.Q33E|CCDC148_uc002tzs.1_Missense_Mutation_p.Q119E NM_138803 NP_620158 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 119 ovary(2) 2 TATGTGCACTGTTGTTCTGAT 0.338 NA 3 42 0 0 0.004672 0 0 PSMD14 10213 broad.mit.edu 37 2 162242025 162242025 + Silent SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:162242025A>C uc002ubu.2 + 8 980 c.513A>C c.(511-513)GGA>GGC p.G171G NM_005805 NP_005796 O00487 PSDE_HUMAN proteasome 26S subunit, non-ATPase 14 171 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1) 1 TGGTCTTAGGACATGAACCAA 0.318 NA 7 24 0 0 0.00308 0 0 IFIH1 64135 broad.mit.edu 37 2 163124634 163124634 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:163124634C>G uc002uce.2 - 14 2992 c.2770G>C c.(2770-2772)GAG>CAG p.E924Q NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 924 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 TGCATTTTCTCAATTACATGG 0.388 NA 6 41 0 0 0.001168 0 0 SCN1A 6323 broad.mit.edu 37 2 166930121 166930121 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:166930121G>A uc010zcz.1 - 1 29 c.11C>T c.(10-12)ACA>ATA p.T4I NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 4 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TACAAGCACTGTTTGCTCCAT 0.383 NA 25 85 0 0 0.005443 0 0 TTN 7273 broad.mit.edu 37 2 179452360 179452360 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:179452360C>G uc010zfg.1 - 255 56196 c.55972G>C c.(55972-55974)GAC>CAC p.D18658H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D12353H|TTN_uc010zfi.1_Missense_Mutation_p.D12286H|TTN_uc010zfj.1_Missense_Mutation_p.D12161H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19585 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCATAGTGTCAACCAGATCA 0.453 NA 8 40 0 0 0.004482 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187703872 187703872 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:187703872T>C uc002upu.1 - 4 348 c.308A>G c.(307-309)GAA>GGA p.E103G NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 103 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TATCTCTCTTTCTCCAAGACC 0.403 NA 64 139 0 0 0.01441 0 0 COL5A2 1290 broad.mit.edu 37 2 189931462 189931462 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:189931462C>T uc002uqk.2 - 22 1723 c.1448G>A c.(1447-1449)GGG>GAG p.G483E COL5A2_uc010frx.2_Intron NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 483 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TACTGGTTCCCCTTTTGGGCC 0.363 NA 49 105 0 0 0.01441 0 0 PLCL1 5334 broad.mit.edu 37 2 198949080 198949080 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:198949080T>C uc010fsp.2 + 2 1130 c.839T>C c.(838-840)ATC>ACC p.I280T PLCL1_uc002uuv.3_Missense_Mutation_p.I201T NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 280 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GAAGCCAAGATCAGGTTAAAG 0.418 NA 34 37 0 0 0.010818 0 0 AOX1 316 broad.mit.edu 37 2 201515816 201515816 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:201515816G>A uc002uvx.2 + 26 3068 c.2967G>A c.(2965-2967)AGG>AGA p.R989R AOX1_uc010zhf.1_Silent_p.R545R|AOX1_uc010fsu.2_Silent_p.R355R NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 989 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACTCCTTGAGGAAAGTTGCTG 0.453 NA 21 134 0 0 0.014323 0 0 ZNF142 7701 broad.mit.edu 37 2 219509702 219509702 + Missense_Mutation SNP T T G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:219509702T>G uc002vin.2 - 8 1973 c.1537A>C c.(1537-1539)ATG>CTG p.M513L ZNF142_uc002vil.2_Missense_Mutation_p.M474L|ZNF142_uc010fvt.2_Missense_Mutation_p.M350L|ZNF142_uc002vim.2_Missense_Mutation_p.M350L NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 513 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) ACCTCACACATCAGAGACTTG 0.597 Colon(170;867 1942 8995 15834 18053) NA 26 49 0 0 0.004656 0 0 SPEG 10290 broad.mit.edu 37 2 220327061 220327061 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:220327061C>T uc010fwg.2 + 8 2658 c.2658C>T c.(2656-2658)GTC>GTT p.V886V SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Silent_p.V94V|SPEG_uc002vln.1_Silent_p.V94V|SPEG_uc002vlp.1_Silent_p.V94V|SPEG_uc002vlq.2_Silent_p.V37V NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 886 Ig-like 3. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCAAGATGTCATCATGAGCA 0.602 NA 3 5 0 0 0.004672 0 0 AP1S3 130340 broad.mit.edu 37 2 224642491 224642492 + Missense_Mutation DNP CC CC AA TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:224642491_224642492CC>AA uc010fwx.1 - 2 250_251 c.98_99GG>TT c.(97-99)CGG>CTT p.R33L AP1S3_uc002vnn.2_Missense_Mutation_p.R33L|AP1S3_uc010fww.2_RNA|AP1S3_uc002vno.2_RNA NM_001039569 NP_001034658 Q96PC3 AP1S3_HUMAN adaptor-related protein complex 1, sigma 3 33 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat protein transporter activity 0 Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272) Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902) GAACAATTTCCCGGGTGATCTT 0.401 NA 19 27 0 0 0.004672 0 0 SPHKAP 80309 broad.mit.edu 37 2 228996711 228996711 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:228996711G>A uc002vpq.2 - 2 170 c.123C>T c.(121-123)ATC>ATT p.I41I SPHKAP_uc002vpp.2_Silent_p.I41I|SPHKAP_uc010zlx.1_Silent_p.I41I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 41 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TACAGGCTGTGATGGAGTTCC 0.468 NA 26 96 0 0 0.004656 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581085 234581085 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:234581085G>A uc002vus.2 + 1 542 c.505G>A c.(505-507)GCC>ACC p.A169T UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.A169T NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 169 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) CGTGGTCTTCGCCAGGGGAAT 0.458 NA 32 201 0 0 0.003271 0 0 ANO7 50636 broad.mit.edu 37 2 242140746 242140746 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:242140746C>T uc002wax.2 + 7 853 c.750C>T c.(748-750)TTC>TTT p.F250F NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 250 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 ACACCTTCTTCACAAGCACCA 0.592 NA 21 36 0 0 0.008871 0 0 D2HGDH 728294 broad.mit.edu 37 2 242690737 242690737 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:242690737G>A uc002wce.1 + 8 1247 c.1074G>A c.(1072-1074)CTG>CTA p.L358L D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Silent_p.L224L|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Silent_p.L57L NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 358 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GCCACTTCCTGGAGCACGCGC 0.612 NA 21 27 0 0 0.014323 0 0 FAM113A 64773 broad.mit.edu 37 20 2816190 2816190 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:2816190C>A uc002wgz.1 - 8 1780 c.1283G>T c.(1282-1284)CGG>CTG p.R428L FAM113A_uc002whb.1_Missense_Mutation_p.R279L|FAM113A_uc002wha.1_Missense_Mutation_p.R279L|FAM113A_uc010zqa.1_Missense_Mutation_p.R275L|FAM113A_uc002whc.1_Missense_Mutation_p.R377L NM_022760 NP_073597 Q9H1Q7 F113A_HUMAN hypothetical protein LOC64773 428 hydrolase activity|protein binding ovary(2) 2 GTGTCTGAGCCGCTGCCTGCA 0.622 NA 39 22 1.07121e-22 1.37115e-22 0.006999 1 0 CDS2 8760 broad.mit.edu 37 20 5159590 5159590 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:5159590C>G uc002wls.2 + 5 774 c.517C>G c.(517-519)CTC>GTC p.L173V CDS2_uc002wlr.1_Missense_Mutation_p.L95V|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Missense_Mutation_p.L118V|CDS2_uc010zqu.1_Missense_Mutation_p.L53V|CDS2_uc002wlv.2_Missense_Mutation_p.L75V|CDS2_uc010zqv.1_5'UTR NM_003818 NP_003809 O95674 CDS2_HUMAN phosphatidate cytidylyltransferase 2 173 Helical; (Potential). phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity 0 TTCCTTTACTCTCTATCTAAT 0.408 NA 31 49 0 0 0.013726 0 0 OTOR 56914 broad.mit.edu 37 20 16730565 16730565 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:16730565G>T uc002wpj.2 + 3 317 c.273G>T c.(271-273)CAG>CAT p.Q91H OTOR_uc002wpk.2_RNA NM_020157 NP_064542 Q9NRC9 OTOR_HUMAN otoraplin precursor 91 SH3. sensory perception of sound extracellular region ovary(1)|central_nervous_system(1) 2 GTGATGGCCAGGACGAGATGG 0.358 NA 5 25 0.00116845 0.00127467 0.001168 1 0 TM9SF4 9777 broad.mit.edu 37 20 30720911 30720911 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:30720911C>T uc002wxj.2 + 2 346 c.111C>T c.(109-111)AAC>AAT p.N37N TM9SF4_uc010ztr.1_Translation_Start_Site|TM9SF4_uc010zts.1_Translation_Start_Site|TM9SF4_uc002wxk.2_Silent_p.N20N NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 37 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCCACCAGAACGATCCCGTAG 0.517 NA 5 56 0 0 0.000602 0 0 GHRH 2691 broad.mit.edu 37 20 35885254 35885254 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:35885254G>A uc002xgr.2 - 1 39 c.39C>T c.(37-39)CTC>CTT p.L13L GHRH_uc002xgs.2_Silent_p.L13L|GHRH_uc002xgt.2_Silent_p.L13L NM_021081 NP_066567 P01286 SLIB_HUMAN growth hormone releasing hormone preproprotein 13 activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food extracellular space|terminal button growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding ovary(1) 1 Myeloproliferative disorder(115;0.00878) AGCTGTTGCTGAGGGTGAGGA 0.612 NA 6 31 0 0 0.00308 0 0 JPH2 57158 broad.mit.edu 37 20 42788372 42788372 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:42788372C>A uc002xli.1 - 2 1928 c.1055G>T c.(1054-1056)CGC>CTC p.R352L NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 352 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) CAGCATGCGGCGCTTGGTGTC 0.667 NA 15 40 6.49762e-13 7.89584e-13 0.006122 1 0 UBE2C 11065 broad.mit.edu 37 20 44444383 44444383 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:44444383A>G uc002xpm.2 + 4 500 c.420A>G c.(418-420)GGA>GGG p.G140G UBE2C_uc002xpl.2_Intron|UBE2C_uc002xpn.2_Silent_p.G101G|UBE2C_uc002xpo.2_Silent_p.G111G|UBE2C_uc002xpp.2_Intron|UBE2C_uc002xpq.2_Silent_p.G101G NM_007019 NP_008950 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C isoform 1 140 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity 0 Myeloproliferative disorder(115;0.0122) GCCTTCTAGGAGGTGACTTTA 0.542 NA 13 83 0 0 0.013537 0 0 MC3R 4159 broad.mit.edu 37 20 54823932 54823932 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:54823932G>A uc002xxb.2 + 1 145 c.33G>A c.(31-33)CAG>CAA p.Q11Q NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 48 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) CCTCTGTTCAGCCAACACTGC 0.587 NA 81 168 0 0 0.01441 0 0 Unknown 0 broad.mit.edu 37 20 56063817 56063817 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:56063817G>C uc010zzl.1 - 1 267 c.267C>G c.(265-267)TTC>TTG p.F89L NM_001008735 NP_001008735 high-mobility group box 1-like 1 NA TGGGATCCTTGAACTTCTTTT 0.453 NA 29 88 0 0 0.008361 0 0 ZNF831 128611 broad.mit.edu 37 20 57767550 57767550 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr20:57767550C>G uc002yan.2 + 1 1476 c.1476C>G c.(1474-1476)CTC>CTG p.L492L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 492 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CCACTCAGCTCTCCACCACCG 0.701 NA 24 59 0 0 0.00333 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692174 31692174 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:31692174G>A uc002ynw.2 - 1 434 c.180C>T c.(178-180)TGC>TGT p.C60C NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 60 intermediate filament ovary(1) 1 TTGGTTCACCGCAGGTCTCTT 0.567 NA 38 53 0 0 0.007835 0 0 DONSON 29980 broad.mit.edu 37 21 34951771 34951771 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:34951771G>A uc002ysk.2 - 9 1515 c.1448C>T c.(1447-1449)TCA>TTA p.S483L DONSON_uc002ysi.1_Missense_Mutation_p.S243L|DONSON_uc002ysj.2_Missense_Mutation_p.S116L|DONSON_uc002ysl.2_Missense_Mutation_p.S116L|DONSON_uc010gme.2_Missense_Mutation_p.S456L|DONSON_uc002ysm.2_Missense_Mutation_p.S483L NM_017613 NP_060083 Q9NYP3 DONS_HUMAN downstream neighbor of SON 483 multicellular organismal development nucleus ovary(1)|central_nervous_system(1) 2 CATGGTCAGTGAATGCAGAGA 0.448 NA 7 39 0 0 0.001984 0 0 PRDM15 63977 broad.mit.edu 37 21 43280475 43280475 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:43280475C>G uc002yzq.1 - 8 1009 c.898G>C c.(898-900)GAG>CAG p.E300Q PRDM15_uc002yzo.2_Missense_Mutation_p.E37Q|PRDM15_uc002yzp.2_Missense_Mutation_p.E37Q|PRDM15_uc002yzr.1_Missense_Mutation_p.E37Q NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCAGCCATCTCTGACACCTGT 0.378 NA 25 17 0 0 0.008361 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999772 45999772 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:45999772T>C uc002zfl.1 - 1 710 c.684A>G c.(682-684)ATA>ATG p.I228M C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 228 22 X 5 AA repeats of C-C-X(3). keratin filament 0 CGGGCCTGCATATGGGGCGGC 0.677 NA 3 87 0 0 0.004672 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999774 45999774 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:45999774T>C uc002zfl.1 - 1 708 c.682A>G c.(682-684)ATA>GTA p.I228V C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 228 22 X 5 AA repeats of C-C-X(3). keratin filament 0 GGCCTGCATATGGGGCGGCAG 0.682 NA 3 91 0 0 0.004672 0 0 PCNT 5116 broad.mit.edu 37 21 47786839 47786839 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr21:47786839G>A uc002zji.3 + 15 3057 c.2950G>A c.(2950-2952)GAG>AAG p.E984K PCNT_uc002zjj.2_Missense_Mutation_p.E866K NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 984 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GACCATCCGTGAGGAGCACAG 0.502 NA 40 111 0 0 0.00623 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072541 17072541 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:17072541G>A uc002zlp.1 - 1 1160 c.900C>T c.(898-900)GAC>GAT p.D300D NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 300 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GGGTCTCCTCGTCGACCTCCC 0.493 NA 65 157 0 0 0.01441 0 0 GAB4 128954 broad.mit.edu 37 22 17472947 17472947 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:17472947G>A uc002zlw.2 - 2 402 c.294C>T c.(292-294)CTC>CTT p.L98L GAB4_uc010gqs.1_Silent_p.L98L NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 98 PH. large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) GCTGCTCACAGAGGTTCAGGT 0.488 NA 86 166 0 0 0.01441 0 0 HPS4 89781 broad.mit.edu 37 22 26861450 26861450 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:26861450G>A uc003acl.2 - 10 1433 c.774C>T c.(772-774)CTC>CTT p.L258L HPS4_uc003aci.2_Silent_p.L253L|HPS4_uc003acj.2_Silent_p.L122L|HPS4_uc003ack.2_Silent_p.L49L|HPS4_uc003acn.2_Silent_p.L104L|HPS4_uc010gvd.1_Silent_p.L276L|HPS4_uc003ach.2_5'UTR NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 258 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 GGAACTCGTGGAGACTAATGG 0.488 NA Hermansky-Pudlak_syndrome 12 52 0 0 0.013537 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120013 38120013 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:38120013C>T uc003atr.2 + 7 1721 c.1450C>T c.(1450-1452)CGG>TGG p.R484W TRIOBP_uc003atu.2_Missense_Mutation_p.R312W|TRIOBP_uc003atq.1_Missense_Mutation_p.R484W|TRIOBP_uc003ats.1_Missense_Mutation_p.R312W NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 484 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CTGTGCCCAGCGGGACAATCC 0.602 NA 30 110 0 0 0.004878 0 0 PICK1 9463 broad.mit.edu 37 22 38466861 38466861 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:38466861G>T uc003auq.2 + 7 846 c.456G>T c.(454-456)AGG>AGT p.R152S PICK1_uc003aur.2_Missense_Mutation_p.R152S|PICK1_uc003aus.2_Missense_Mutation_p.R152S|PICK1_uc003aut.2_Missense_Mutation_p.R152S NM_012407 NP_036539 Q9NRD5 PICK1_HUMAN protein interacting with C kinase 1 152 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding 0 Melanoma(58;0.045) TTGTCAAGAGGCTAGAGGAGC 0.627 NA 10 32 0.000673444 0.000736759 0.008291 1 0 PNPLA3 80339 broad.mit.edu 37 22 44322984 44322984 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr22:44322984C>T uc003bei.1 + 2 530 c.357C>T c.(355-357)ACC>ACT p.T119T PNPLA3_uc010gzm.1_RNA NM_025225 NP_079501 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 119 Lumenal (Potential).|Patatin. triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity 0 Ovarian(80;0.024)|all_neural(38;0.0416) TCTCTCTTACCAGAGTGTCTG 0.493 NA 20 46 0 0 0.014323 0 0 FANCD2 2177 broad.mit.edu 37 3 10136010 10136010 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:10136010G>T uc003buw.2 + 40 4004 c.3926G>T c.(3925-3927)TGT>TTT p.C1309F FANCD2_uc003bux.1_Missense_Mutation_p.C1309F|FANCD2_uc003buy.1_Missense_Mutation_p.C1309F|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 1309 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) CTGAAGCAATGTATGCCGCTC 0.458 NA D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 111 153 3.21225e-43 4.15321e-43 0.01441 1 0 OXNAD1 92106 broad.mit.edu 37 3 16336367 16336367 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:16336367G>T uc003caw.2 + 6 752 c.295G>T c.(295-297)GAT>TAT p.D99Y OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Missense_Mutation_p.D99Y|OXNAD1_uc011awb.1_Missense_Mutation_p.D117Y NM_138381 NP_612390 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 99 FAD-binding FR-type. oxidoreductase activity skin(1) 1 TTTTAGGGTTGATTTCTTTAT 0.274 NA 19 37 5.03518e-11 6.0234e-11 0.007413 1 0 THRB 7068 broad.mit.edu 37 3 24174828 24174828 + Silent SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:24174828T>C uc003ccx.3 - 9 1213 c.864A>G c.(862-864)AAA>AAG p.K288K THRB_uc010hfe.2_Silent_p.K288K|THRB_uc003ccy.3_Silent_p.K288K|THRB_uc003ccz.3_Silent_p.K283K NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 288 Ligand-binding.|Interaction with NR2F6. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) TAGGCAACTTTTTGGCAAAAT 0.383 Melanoma(21;896 1043 15021 37958) NA 4 28 0 0 0.009096 0 0 ZNF860 344787 broad.mit.edu 37 3 32031784 32031784 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:32031784A>G uc011axg.1 + 2 1762 c.1213A>G c.(1213-1215)AAA>GAA p.K405E NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 405 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGATTGTCACAAAGTCTTCAG 0.363 NA 5 32 0 0 0.001984 0 0 MLH1 4292 broad.mit.edu 37 3 37053345 37053345 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:37053345G>A uc003cgl.2 + 7 640 c.580G>A c.(580-582)GTT>ATT p.V194I MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Missense_Mutation_p.V194I|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Missense_Mutation_p.V96I|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR|MLH1_uc010hgg.1_5'Flank|MLH1_uc010hgh.1_5'Flank|MLH1_uc010hgi.1_5'Flank|MLH1_uc010hgj.1_5'Flank|MLH1_uc010hgk.2_5'Flank|MLH1_uc010hgl.1_5'Flank NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 194 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 TAGTTTCTCAGTTAAAAAAGT 0.353 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 27 121 0 0 0.008361 0 0 DOCK3 1795 broad.mit.edu 37 3 51198034 51198034 + Missense_Mutation SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:51198034A>G uc011bds.1 + 12 961 c.938A>G c.(937-939)TAC>TGC p.Y313C NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 313 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CACCTGCACTACAGGCGACCA 0.493 NA 9 10 0 0 0.004482 0 0 PTPRG 5793 broad.mit.edu 37 3 62240846 62240846 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:62240846G>A uc003dlb.2 + 16 3234 c.2515G>A c.(2515-2517)GAG>AAG p.E839K PTPRG_uc003dlc.2_Missense_Mutation_p.E810K|PTPRG_uc011bfi.1_Missense_Mutation_p.E85K NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 839 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ACACATCGGTGAGCTCTATTC 0.373 NA 24 39 0 0 0.008361 0 0 PROS1 5627 broad.mit.edu 37 3 93615521 93615521 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:93615521G>A uc003drb.3 - 9 1205 c.864C>T c.(862-864)TGC>TGT p.C288C PROS1_uc010hoo.2_Silent_p.C157C|PROS1_uc003dqz.3_Silent_p.C157C NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 288 leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCAAGGGAAGGCACACTGAAA 0.358 NA 40 97 0 0 0.00623 0 0 IGSF11 152404 broad.mit.edu 37 3 118621435 118621435 + Missense_Mutation SNP T T A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:118621435T>A uc003ebw.2 - 7 1475 c.1228A>T c.(1228-1230)ACA>TCA p.T410S IGSF11_uc011biv.1_Missense_Mutation_p.T382S|IGSF11_uc003ebx.2_Missense_Mutation_p.T386S|IGSF11_uc003eby.2_Missense_Mutation_p.T409S|IGSF11_uc003ebz.2_Missense_Mutation_p.T385S|IGSF11_uc010hqs.2_Missense_Mutation_p.T409S NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 410 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 CGTTCCAGTGTTGCGTGGCTG 0.527 NA 38 70 0 0 0.00623 0 0 A4GNT 51146 broad.mit.edu 37 3 137843425 137843425 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:137843425C>G uc003ers.2 - 3 906 c.704G>C c.(703-705)TGG>TCG p.W235S NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 235 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 AAGTTTACACCATACCCTCAA 0.463 NA 24 56 0 0 0.014323 0 0 PRR23C 389152 broad.mit.edu 37 3 138762903 138762903 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:138762903C>T uc011bmt.1 - 1 832 c.560G>A c.(559-561)AGC>AAC p.S187N NM_001134657 NP_001128129 Q6ZRP0 PR23C_HUMAN proline rich 23C 187 skin(1) 1 CCGGTAGGGGCTGAACATACT 0.652 NA 7 16 0 0 0.001984 0 0 RTP1 132112 broad.mit.edu 37 3 186917551 186917551 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr3:186917551G>T uc003frg.2 + 2 515 c.485G>T c.(484-486)CGC>CTC p.R162L NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 162 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) ACCAGCCTGCGCGAGCAGTGC 0.677 NA 25 12 6.07407e-21 7.69784e-21 0.007291 1 0 PDE6B 5158 broad.mit.edu 37 4 654380 654380 + Missense_Mutation SNP G G A rs144664551 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:654380G>A uc003gap.2 + 12 1645 c.1592G>A c.(1591-1593)CGA>CAA p.R531Q PDE6B_uc003gao.3_Missense_Mutation_p.R531Q|PDE6B_uc011buy.1_Missense_Mutation_p.R252Q NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 531 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 GGCGTGGTCCGAAAGTTCCAG 0.587 GBM(71;463 1194 9848 25922 46834) NA 5 26 0 0 0.001984 0 0 BOD1L 259282 broad.mit.edu 37 4 13603329 13603329 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:13603329G>C uc003gmz.1 - 10 5312 c.5195C>G c.(5194-5196)GCA>GGA p.A1732G BOD1L_uc010idr.1_Missense_Mutation_p.A1069G NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1732 DNA binding ovary(5)|breast(1) 6 TCTGCCTTCTGCTCCTGTACA 0.502 NA 26 119 0 0 0.00333 0 0 ANAPC4 29945 broad.mit.edu 37 4 25394003 25394003 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:25394003G>A uc003gro.2 + 10 878 c.749G>A c.(748-750)CGG>CAG p.R250Q ANAPC4_uc003grp.2_Missense_Mutation_p.R135Q|ANAPC4_uc010iet.1_Missense_Mutation_p.R59Q|ANAPC4_uc010ieu.1_Missense_Mutation_p.R59Q NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 250 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) GAAGTAACTCGGATGGCCAGA 0.343 NA 11 52 0 0 0.001855 0 0 PCDH7 5099 broad.mit.edu 37 4 30725930 30725930 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:30725930G>A uc003gsk.1 + 1 3894 c.2886G>A c.(2884-2886)CAG>CAA p.Q962Q PCDH7_uc011bxw.1_Silent_p.Q915Q|PCDH7_uc011bxx.1_Silent_p.Q962Q NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 962 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding p.P962P(1) upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CAAATGGACAGAGGTATGATA 0.473 NA 14 74 0 0 0.00499 0 0 ATP10D 57205 broad.mit.edu 37 4 47514737 47514737 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:47514737C>G uc003gxk.1 + 2 344 c.180C>G c.(178-180)TTC>TTG p.F60L ATP10D_uc003gxj.3_Missense_Mutation_p.F60L NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 60 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 TCCAGCCCTTCAAGGATGAGT 0.463 NA 11 50 0 0 0.010729 0 0 SGCB 6443 broad.mit.edu 37 4 52890175 52890175 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:52890175C>A uc003gzj.2 - 6 965 c.905G>T c.(904-906)AGC>ATC p.S302I SGCB_uc011bzp.1_Missense_Mutation_p.S232I NM_000232 NP_000223 Q16585 SGCB_HUMAN sarcoglycan, beta 302 Extracellular (Potential).|Cys-rich. cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma 0 GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204) CATGTTCTGGCTGGTTACTTG 0.493 NA 18 34 1.56452e-12 1.88924e-12 0.007413 1 0 LPHN3 23284 broad.mit.edu 37 4 62758580 62758580 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:62758580G>A uc010ihh.2 + 7 1656 c.1483G>A c.(1483-1485)GAA>AAA p.E495K LPHN3_uc003hcq.3_Missense_Mutation_p.E495K|LPHN3_uc003hcs.1_Missense_Mutation_p.E324K NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 495 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 CCCAGCTCTCGAAGAGAGCTG 0.502 NA 5 19 0 0 0.001168 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978250 69978250 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:69978250C>T uc003heg.3 + 6 1432 c.1386C>T c.(1384-1386)TTC>TTT p.F462F UGT2B7_uc010ihq.2_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 462 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 GAGCAGTCTTCTGGATTGAAT 0.423 NA 26 83 0 0 0.00632 0 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:79792085G>C uc003hlk.2 + 11 1546 c.1380G>C c.(1378-1380)CAG>CAC p.Q460H BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.Q460H|BMP2K_uc003hll.2_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 ATCCTCACcagcagcagcagc 0.254 NA 6 278 0 0 0.00308 0 0 PDLIM5 10611 broad.mit.edu 37 4 95444920 95444920 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:95444920G>T uc003hti.2 + 3 293 c.142G>T c.(142-144)GAT>TAT p.D48Y PDLIM5_uc003htf.2_Missense_Mutation_p.D48Y|PDLIM5_uc003htg.2_Missense_Mutation_p.D48Y|PDLIM5_uc011cdx.1_Missense_Mutation_p.D48Y|PDLIM5_uc003hth.2_Missense_Mutation_p.D48Y|PDLIM5_uc003htj.2_5'UTR|PDLIM5_uc003htk.2_Missense_Mutation_p.D48Y|PDLIM5_uc011cdy.1_Intron NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 48 PDZ. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) AAGAATAGGCGATGTGGTTCT 0.378 NA 10 15 4.68919e-08 5.44003e-08 0.008291 1 0 GLRA3 8001 broad.mit.edu 37 4 175598396 175598396 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:175598396C>T uc003ity.1 - 7 1263 c.760G>A c.(760-762)GGA>AGA p.G254R GLRA3_uc003itz.1_Missense_Mutation_p.G254R NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 254 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AGATAGTATCCCATTTGTCGC 0.428 NA 7 28 0 0 0.00308 0 0 PRDM9 56979 broad.mit.edu 37 5 23524634 23524634 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:23524634G>A uc003jgo.2 + 10 1324 c.1142G>A c.(1141-1143)AGA>AAA p.R381K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 381 Missing (in Ref. 4; AAF87242). meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATGGCAGGGAGAGGTAGGCAT 0.448 NA HNSCC(3;0.000094) 15 50 0 0 0.00278 0 0 SKP2 6502 broad.mit.edu 37 5 36166718 36166718 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:36166718C>T uc003jkc.1 + 4 672 c.490C>T c.(490-492)CGC>TGC p.R164C SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Missense_Mutation_p.R164C NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 164 LRR 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATTGCCTTCCGCTGCCCACG 0.453 NA 15 45 0 0 0.00499 0 0 WDR70 55100 broad.mit.edu 37 5 37379592 37379592 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:37379592G>A uc003jkv.2 + 2 85 c.27G>A c.(25-27)GTG>GTA p.V9V WDR70_uc010iva.1_Silent_p.V9V NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 9 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGCTCCAGTGACAGGCTCAG 0.662 NA 31 67 0 0 0.010818 0 0 DAB2 1601 broad.mit.edu 37 5 39394407 39394407 + Nonsense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:39394407C>A uc003jlx.2 - 2 547 c.16G>T c.(16-18)GAA>TAA p.E6* DAB2_uc003jlw.2_Nonsense_Mutation_p.E6* NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 6 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) GCACTTGTTTCTACTTCGTTA 0.483 NA 20 55 5.26018e-13 6.41241e-13 0.012319 1 0 HMGCS1 3157 broad.mit.edu 37 5 43299040 43299040 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:43299040C>T uc003jnr.3 - 3 235 c.28G>A c.(28-30)GAA>AAA p.E10K HMGCS1_uc003jnq.3_Missense_Mutation_p.E10K NM_001098272 NP_001091742 Q01581 HMCS1_HUMAN hydroxymethylglutaryl-CoA synthase 1 10 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity 0 CAGCAAGCTTCTGCATTCAAA 0.373 NA 12 50 0 0 0.013537 0 0 ACSL6 23305 broad.mit.edu 37 5 131308521 131308521 + Missense_Mutation SNP G G A rs140341663 byFrequency TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:131308521G>A uc010jdo.1 - 13 1242 c.1159C>T c.(1159-1161)CGC>TGC p.R387C ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.R412C|ACSL6_uc003kvy.1_Missense_Mutation_p.R412C|ACSL6_uc003kwb.2_Missense_Mutation_p.R377C|ACSL6_uc003kvz.1_Missense_Mutation_p.R312C|ACSL6_uc003kwa.1_Missense_Mutation_p.R398C|ACSL6_uc003kvw.1_Missense_Mutation_p.R33C|ACSL6_uc010jdn.1_Missense_Mutation_p.R402C NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 387 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGAGCCAGCGCTTTAATGGT 0.458 NA 23 41 0 0 0.00278 0 0 IL13 3596 broad.mit.edu 37 5 131995955 131995955 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:131995955G>A uc003kxj.1 + 4 436 c.422G>A c.(421-423)CGC>CAC p.R141H NM_002188 NP_002179 P35225 IL13_HUMAN interleukin 13 precursor 141 cellular component movement|immune response|inflammatory response|signal transduction extracellular space|soluble fraction cytokine activity ovary(1)|skin(1) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAACTTTTTCGCGAGGGACAG 0.413 NA 4 28 0 0 0.001168 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581426 140581426 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:140581426G>A uc003liy.2 + 1 2079 c.2079G>A c.(2077-2079)GCG>GCA p.A693A PCDHB11_uc011daj.1_Silent_p.A328A NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 693 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTGGTGGCGTTGGCCTCGG 0.692 NA 89 114 0 0 0.01441 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711485 140711485 + Nonsense_Mutation SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:140711485A>T uc003lji.1 + 1 1234 c.1234A>T c.(1234-1236)AGA>TGA p.R412* PCDHGA1_uc011dan.1_Nonsense_Mutation_p.R412* NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 412 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACACTGGACAGAGAACTTAT 0.368 NA 24 34 0 0 0.003954 0 0 FAT2 2196 broad.mit.edu 37 5 150923577 150923577 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:150923577C>G uc003lue.3 - 9 7124 c.7111G>C c.(7111-7113)GAT>CAT p.D2371H GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2371 Extracellular (Potential).|Cadherin 20. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCATTGATATCAGACACATTG 0.468 NA 20 60 0 0 0.010504 0 0 WWC1 23286 broad.mit.edu 37 5 167826495 167826495 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:167826495C>T uc003lzu.2 + 5 606 c.513C>T c.(511-513)GTC>GTT p.V171V WWC1_uc003lzv.2_Silent_p.V171V|WWC1_uc011den.1_Silent_p.V171V NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 171 Potential. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CCCTCCAGGTCAACAAGCTGA 0.577 NA 9 29 0 0 0.006214 0 0 HRH2 3274 broad.mit.edu 37 5 175110317 175110317 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:175110317C>T uc003mdd.2 + 1 1854 c.81C>T c.(79-81)GTC>GTT p.V27V HRH2_uc003mdc.3_Silent_p.V27V NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 27 Helical; Name=1; (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) TCCTTGCGGTCCTCATCCTCA 0.582 NA 71 128 0 0 0.01441 0 0 AGXT2L2 85007 broad.mit.edu 37 5 177642318 177642318 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr5:177642318G>A uc003miz.2 - 9 1293 c.1041C>T c.(1039-1041)CTC>CTT p.L347L AGXT2L2_uc003miy.2_Silent_p.L72L|AGXT2L2_uc003mjc.2_Silent_p.L306L|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_Silent_p.L72L|AGXT2L2_uc003mjd.1_Silent_p.L205L NM_153373 NP_699204 Q8IUZ5 AT2L2_HUMAN alanine-glyoxylate aminotransferase 2-like 2 347 mitochondrion pyridoxal phosphate binding|transaminase activity pancreas(1) 1 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTTGCTGCCCGAGGAGCTGCA 0.577 NA 14 19 0 0 0.003163 0 0 ZNF184 7738 broad.mit.edu 37 6 27420788 27420788 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:27420788C>A uc003njj.2 - 5 1361 c.550G>T c.(550-552)GGG>TGG p.G184W ZNF184_uc010jqv.2_Missense_Mutation_p.G184W|ZNF184_uc003nji.2_Missense_Mutation_p.G184W NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACACTTTTCCCAAATTCATTA 0.398 NA 21 146 1.9806e-07 2.2771e-07 0.014323 1 0 OR2H2 7932 broad.mit.edu 37 6 29556415 29556415 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:29556415C>T uc003nmr.1 + 1 733 c.694C>T c.(694-696)CGG>TGG p.R232W GABBR1_uc003nmp.3_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, 232 Cytoplasmic (Potential). KGR -> TAW (in Ref. 1; AAB36567). defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCAAAAGGGCGGAGGAAAGC 0.522 NA 10 85 0 0 0.006214 0 0 EYS 346007 broad.mit.edu 37 6 66112465 66112465 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:66112465C>A uc011dxu.1 - 7 1628 c.1090G>T c.(1090-1092)GAT>TAT p.D364Y EYS_uc003peq.2_Missense_Mutation_p.D364Y|EYS_uc003per.1_Missense_Mutation_p.D364Y NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 364 EGF-like 4. response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CAAAGCAAATCTGTAAATATT 0.303 NA 16 29 4.7546e-09 5.58339e-09 0.004007 1 0 SNX14 57231 broad.mit.edu 37 6 86227558 86227558 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:86227558G>A uc003pkr.2 - 23 2377 c.2184C>T c.(2182-2184)TTC>TTT p.F728F SNX14_uc003pkp.2_Silent_p.F591F|SNX14_uc003pkq.2_Silent_p.F334F|SNX14_uc011dzg.1_Silent_p.F676F|SNX14_uc003pks.2_Silent_p.F675F|SNX14_uc003pkt.2_Silent_p.F719F NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 728 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) AAGAATTAATGAAATTCATGA 0.343 NA 5 36 0 0 0.000602 0 0 ZNF292 23036 broad.mit.edu 37 6 87966229 87966229 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:87966229G>A uc003plm.3 + 8 2923 c.2882G>A c.(2881-2883)GGC>GAC p.G961D NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 961 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ACTGTGGAAGGCAGTGGTGAA 0.433 NA 20 47 0 0 0.010504 0 0 FBXL4 26235 broad.mit.edu 37 6 99323402 99323402 + Nonsense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:99323402G>A uc003ppf.1 - 8 1949 c.1591C>T c.(1591-1593)CAG>TAG p.Q531* FBXL4_uc003ppg.1_Nonsense_Mutation_p.Q531*|FBXL4_uc003pph.1_Nonsense_Mutation_p.Q133*|FBXL4_uc010kcp.2_Nonsense_Mutation_p.Q109* NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 531 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex skin(2) 2 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TTTGGGAGCTGGTGTGCCAGT 0.502 NA 4 44 0 0 0.009096 0 0 LIN28B 389421 broad.mit.edu 37 6 105406144 105406144 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:105406144G>A uc003pqv.1 + 2 384 c.181G>A c.(181-183)GAT>AAT p.D61N LIN28B_uc010kda.1_Missense_Mutation_p.D21N NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN lin-28 homolog B 61 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding 0 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) TATTCCAGTCGATGTATTTGT 0.458 NA 6 66 0 0 0.001984 0 0 PRDM1 639 broad.mit.edu 37 6 106554835 106554835 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:106554835G>C uc003prd.2 + 7 2186 c.1952G>C c.(1951-1953)CGA>CCA p.R651P PRDM1_uc003pre.2_Missense_Mutation_p.R517P NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 651 C2H2-type 3. negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) ACCCACCTGCGACTCCATTCT 0.547 NA D|N|Mis|F|S DLBCL 10 79 0 0 0.00245 0 0 EYA4 2070 broad.mit.edu 37 6 133777745 133777745 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:133777745C>A uc003qec.3 + 6 787 c.329C>A c.(328-330)GCC>GAC p.A110D EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.A110D|EYA4_uc003qee.3_Missense_Mutation_p.A87D|EYA4_uc011ecs.1_Missense_Mutation_p.A110D|uc003qef.1_RNA NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 110 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) GAAACCACAGCCACGACTGGA 0.458 Melanoma(57;398 1237 3528 4702 7415) NA 12 135 1.52009e-12 1.84137e-12 0.003163 1 0 LPA 4018 broad.mit.edu 37 6 161071369 161071369 + Splice_Site SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr6:161071369C>T uc003qtl.2 - 3 329 c.209_splice c.e3+1 p.A70_splice NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TAATGACATACGCATTTGGGT 0.403 NA 64 100 0 0 0.01441 0 0 SNX13 23161 broad.mit.edu 37 7 17931175 17931175 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:17931175G>A uc003stw.1 - 4 525 c.312C>T c.(310-312)CTC>CTT p.L104L SNX13_uc003stv.2_Silent_p.L104L|SNX13_uc010kuc.2_5'UTR|SNX13_uc003stx.1_Silent_p.L24L|SNX13_uc003sty.2_Silent_p.L104L Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 104 PXA. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) TCACTTGCTGGAGAGGTTCAT 0.338 NA 17 41 0 0 0.006122 0 0 HECW1 23072 broad.mit.edu 37 7 43506115 43506115 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:43506115C>T uc003tid.1 + 15 3466 c.2861C>T c.(2860-2862)GCG>GTG p.A954V HECW1_uc011kbi.1_Missense_Mutation_p.A920V NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 954 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CAGTCCCCAGCGGTCAAGTTC 0.498 NA 29 55 0 0 0.007291 0 0 ADCY1 107 broad.mit.edu 37 7 45697356 45697356 + Silent SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:45697356G>C uc003tne.3 + 6 1197 c.1179G>C c.(1177-1179)CTG>CTC p.L393L ADCY1_uc003tnd.2_Silent_p.L168L NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 393 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGGTGGATCTGAACATGCGTG 0.612 NA 5 17 0 0 0.000602 0 0 ZNF716 441234 broad.mit.edu 37 7 57528802 57528802 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:57528802C>A uc011kdi.1 + 4 747 c.635C>A c.(634-636)TCT>TAT p.S212Y NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 AGGGAGAAGTCTTACAAATGT 0.358 NA 7 13 0.00198382 0.00214588 0.001984 1 0 AKAP9 10142 broad.mit.edu 37 7 91694636 91694636 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:91694636G>A uc003ulg.2 + 25 6294 c.6069G>A c.(6067-6069)GTG>GTA p.V2023V AKAP9_uc003ulf.2_Silent_p.V2023V|AKAP9_uc003uli.2_Silent_p.V1646V NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2035 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAAACAAGTGAAAGCTCTAG 0.328 NA T BRAF papillary thyroid 6 22 0 0 0.001168 0 0 KRIT1 889 broad.mit.edu 37 7 91851243 91851243 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:91851243C>T uc003ulq.1 - 12 1707 c.1536G>A c.(1534-1536)GTG>GTA p.V512V KRIT1_uc010lev.1_Silent_p.V269V|KRIT1_uc003ulr.1_Silent_p.V512V|KRIT1_uc003uls.1_Silent_p.V512V|KRIT1_uc003ult.1_Silent_p.V464V|KRIT1_uc003ulu.1_Silent_p.V512V|KRIT1_uc003ulv.1_Silent_p.V512V NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 512 Required for RAP1A binding.|FERM. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGGGAAGTCTCACATCTCTTC 0.378 NA Familial_Cerebral_Cavernous_Angioma 83 94 0 0 0.01441 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763666 92763666 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:92763666C>A uc003umh.1 - 5 2835 c.1619G>T c.(1618-1620)AGA>ATA p.R540I SAMD9L_uc003umj.1_Missense_Mutation_p.R540I|SAMD9L_uc003umi.1_Missense_Mutation_p.R540I|SAMD9L_uc010lfb.1_Missense_Mutation_p.R540I|SAMD9L_uc003umk.1_Missense_Mutation_p.R540I|SAMD9L_uc010lfc.1_Missense_Mutation_p.R540I|SAMD9L_uc010lfd.1_Missense_Mutation_p.R540I|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 540 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AAATTTTCCTCTTGTCATTAT 0.368 NA 7 134 0.00198382 0.00214588 0.001984 1 0 SGCE 8910 broad.mit.edu 37 7 94228233 94228233 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:94228233C>G uc003unl.2 - 9 1218 c.1107G>C c.(1105-1107)AAG>AAC p.K369N SGCE_uc003unk.2_Missense_Mutation_p.K192N|SGCE_uc003unm.2_Missense_Mutation_p.K369N|SGCE_uc003unn.2_Missense_Mutation_p.K360N|SGCE_uc011kic.1_Missense_Mutation_p.K328N|SGCE_uc011kid.1_Missense_Mutation_p.K405N NM_003919 NP_003910 O43556 SGCE_HUMAN sarcoglycan, epsilon isoform 2 369 Cytoplasmic (Potential). cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CTCGAAGCTCCTTGGTAGATT 0.418 NA 17 164 0 0 0.00499 0 0 ASB4 51666 broad.mit.edu 37 7 95125216 95125216 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:95125216C>A uc011kij.1 + 2 334 c.334C>A c.(334-336)CAC>AAC p.H112N ASB4_uc003unx.2_Missense_Mutation_p.H112N NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 112 ANK 2. intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) AACCCCTCTTCACGTGGCTTG 0.478 NA 24 201 3.28513e-13 4.01748e-13 0.003954 1 0 TRRAP 8295 broad.mit.edu 37 7 98586403 98586403 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:98586403C>G uc003upp.2 + 62 9626 c.9417C>G c.(9415-9417)AAC>AAG p.N3139K TRRAP_uc011kis.1_Missense_Mutation_p.N3110K|TRRAP_uc003upr.2_Missense_Mutation_p.N2827K NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3139 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGGAGGCAAACAAAGCCTTCT 0.408 NA 9 155 0 0 0.004482 0 0 TRIM4 89122 broad.mit.edu 37 7 99490035 99490035 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:99490035C>A uc003usd.2 - 7 1384 c.1254G>T c.(1252-1254)GCG>GCT p.A418A TRIM4_uc003use.2_Silent_p.A392A|TRIM4_uc011kjc.1_Silent_p.A248A NM_033017 NP_148977 Q9C037 TRIM4_HUMAN tripartite motif protein TRIM4 isoform alpha 418 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding ovary(1)|kidney(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) TCCAATAAATCGCCCAGATGC 0.542 NA 69 844 2.94884e-30 3.78714e-30 0.01441 1 0 CFTR 1080 broad.mit.edu 37 7 117171025 117171025 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:117171025G>A uc003vjd.2 + 4 478 c.346G>A c.(346-348)GAA>AAA p.E116K CFTR_uc011knq.1_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 116 ABC transmembrane type-1 1.|Extracellular (Potential). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TAACAAGGAGGAACGCTCTAT 0.448 NA Cystic_Fibrosis 8 205 0 0 0.00308 0 0 AASS 10157 broad.mit.edu 37 7 121726194 121726194 + Missense_Mutation SNP C C T rs117830956 by1000genomes TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:121726194C>T uc003vka.2 - 18 2152 c.2056G>A c.(2056-2058)GTT>ATT p.V686I AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.V686I|AASS_uc011knw.1_Missense_Mutation_p.V174I NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 686 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) ATGGACGTAACGGCATCAAGA 0.428 NA 4 39 0 0 0.009096 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919577 142919577 + Missense_Mutation SNP A A T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:142919577A>T uc011ksx.1 + 1 406 c.406A>T c.(406-408)AGG>TGG p.R136W NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 136 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) CCTGATGAAGAGGAAAATCAT 0.423 NA 47 125 0 0 0.011902 0 0 MLL3 58508 broad.mit.edu 37 7 151927076 151927076 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:151927076C>A uc003wla.2 - 18 3127 c.2908G>T c.(2908-2910)GCA>TCA p.A970S MLL3_uc003wkz.2_Missense_Mutation_p.A31S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 970 PHD-type 4. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CTTCCTTCTGCTCCTTGGCCA 0.353 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 11 301 3.99206e-14 4.9133e-14 0.007413 1 0 DPP6 1804 broad.mit.edu 37 7 154659728 154659728 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:154659728G>A uc003wlk.2 + 18 1867 c.1738G>A c.(1738-1740)GAA>AAA p.E580K DPP6_uc003wli.2_Missense_Mutation_p.E516K|DPP6_uc003wlm.2_Missense_Mutation_p.E518K|DPP6_uc011kvq.1_Missense_Mutation_p.E473K NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 580 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGAAACAAATGAACATGTCAA 0.423 NSCLC(125;1384 1783 2490 7422 34254) NA 4 19 0 0 0.000602 0 0 XKR6 286046 broad.mit.edu 37 8 11058765 11058765 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:11058765G>A uc003wtk.1 - 1 111 c.84C>T c.(82-84)GGC>GGT p.G28G NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 28 Gly-rich. integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CGTCCTCCTCGCCGCCGCTGC 0.577 NA 4 10 0 0 0.001168 0 0 LZTS1 11178 broad.mit.edu 37 8 20110540 20110540 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:20110540C>T uc003wzr.2 - 2 1013 c.902G>A c.(901-903)CGC>CAC p.R301H LZTS1_uc010ltg.1_Missense_Mutation_p.R301H NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 301 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GTCCCTGCAGCGCCGCGGCCG 0.682 NA 11 47 0 0 0.008291 0 0 UNC5D 137970 broad.mit.edu 37 8 35579764 35579764 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:35579764G>T uc003xjr.1 + 9 1482 c.1154G>T c.(1153-1155)GGC>GTC p.G385V UNC5D_uc003xjs.1_Missense_Mutation_p.G380V|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.G143V NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 385 Helical; (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGTACTCGGGCTTGGGTGCT 0.522 NA 8 157 0.000274275 0.000302648 0.004482 1 0 PRKDC 5591 broad.mit.edu 37 8 48752729 48752729 + Silent SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:48752729T>C uc003xqi.2 - 56 7359 c.7302A>G c.(7300-7302)GTA>GTG p.V2434V PRKDC_uc003xqj.2_Silent_p.V2434V|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2434 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTCCAAACATACTTTTTGTC 0.338 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 3 4 0 0 0.004672 0 0 PENK 5179 broad.mit.edu 37 8 57354089 57354089 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:57354089C>G uc003xsz.2 - 2 627 c.546G>C c.(544-546)GTG>GTC p.V182V PENK_uc003xta.3_Silent_p.V182V NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 182 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) ATCTCTTGCTCACTTCTTCCT 0.517 NA 40 78 0 0 0.00874 0 0 TRPA1 8989 broad.mit.edu 37 8 72975736 72975736 + Nonsense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:72975736G>C uc003xza.2 - 5 798 c.623C>G c.(622-624)TCA>TGA p.S208* NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 208 ANK 5.|Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TTTGGAACCTGAAAATGCAGC 0.328 NA 22 20 0 0 0.004656 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229783 87229783 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:87229783G>A uc003ydq.1 - 3 1193 c.1095C>T c.(1093-1095)TTC>TTT p.F365F SLC7A13_uc003ydr.1_Silent_p.F356F NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 365 Helical; Name=10; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 ATGAACCCGTGAAAAAAATAT 0.338 NA 11 26 0 0 0.008291 0 0 UBR5 51366 broad.mit.edu 37 8 103271226 103271226 + Missense_Mutation SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:103271226G>T uc003ykr.1 - 57 8121 c.8088C>A c.(8086-8088)TTC>TTA p.F2696L UBR5_uc003yks.1_Missense_Mutation_p.F2695L|UBR5_uc003ykq.2_Missense_Mutation_p.F207L NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2696 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ATTCATCATTGAAAGAGGTAA 0.338 Ovarian(131;96 1741 5634 7352 27489) NA 12 28 3.07112e-06 3.44827e-06 0.010729 1 0 CSMD3 114788 broad.mit.edu 37 8 113299453 113299453 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:113299453G>A uc003ynu.2 - 58 9330 c.9171C>T c.(9169-9171)GGC>GGT p.G3057G CSMD3_uc003yns.2_Silent_p.G2259G|CSMD3_uc003ynt.2_Silent_p.G3017G|CSMD3_uc011lhx.1_Silent_p.G2888G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3057 Extracellular (Potential).|Sushi 22. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TACCTGGATCGCCACATGTCC 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 135 0 0 0.00245 0 0 CSMD3 114788 broad.mit.edu 37 8 113318320 113318320 + Silent SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:113318320G>T uc003ynu.2 - 51 8146 c.7987C>A c.(7987-7989)CGA>AGA p.R2663R CSMD3_uc003yns.2_Silent_p.R1865R|CSMD3_uc003ynt.2_Silent_p.R2623R|CSMD3_uc011lhx.1_Silent_p.R2559R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2663 Extracellular (Potential).|Sushi 15. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GATGACAATCGATATCCATCA 0.418 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 31 76 5.90632e-09 6.8937e-09 0.012213 1 0 CSMD3 114788 broad.mit.edu 37 8 113331153 113331153 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:113331153G>A uc003ynu.2 - 47 7432 c.7273C>T c.(7273-7275)CCA>TCA p.P2425S CSMD3_uc003yns.2_Missense_Mutation_p.P1627S|CSMD3_uc003ynt.2_Missense_Mutation_p.P2385S|CSMD3_uc011lhx.1_Missense_Mutation_p.P2321S|CSMD3_uc003ynw.1_Missense_Mutation_p.P136S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2425 Extracellular (Potential).|Sushi 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTAAATCCTGGAAGACACTGA 0.358 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 33 0 0 0.009096 0 0 RNF139 11236 broad.mit.edu 37 8 125498769 125498769 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:125498769C>T uc003yrc.2 + 2 1222 c.879C>T c.(877-879)GGC>GGT p.G293G NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 293 Helical; (Potential). negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTGTACTGGGCATGAGTGCTG 0.408 NA Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 11 157 0 0 0.001855 0 0 TG 7038 broad.mit.edu 37 8 133880403 133880403 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:133880403G>C uc003ytw.2 + 2 152 c.111G>C c.(109-111)CAG>CAC p.Q37H NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 37 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTGAGCTGCAGAGGGAAACGG 0.547 NA 13 114 0 0 0.00245 0 0 TG 7038 broad.mit.edu 37 8 133883613 133883613 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:133883613C>A uc003ytw.2 + 4 336 c.295C>A c.(295-297)CAG>AAG p.Q99K NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 99 Thyroglobulin type-1 2. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTGTCAGCTACAGAAACAGCA 0.502 NA 20 227 1.64113e-05 1.8373e-05 0.010504 1 0 BAI1 575 broad.mit.edu 37 8 143603424 143603424 + Silent SNP G G T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:143603424G>T uc003ywm.2 + 20 3306 c.3123G>T c.(3121-3123)ACG>ACT p.T1041T NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1041 Cytoplasmic (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGGCGGTGACGGGCCACCTCC 0.667 NA 8 24 0.000673444 0.000736759 0.008291 1 0 GPR172A 79581 broad.mit.edu 37 8 145583767 145583767 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:145583767C>T uc003zcc.1 + 3 772 c.615C>T c.(613-615)GTC>GTT p.V205V FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.V205V|GPR172A_uc003zce.1_Silent_p.V205V|GPR172A_uc010mfy.1_Silent_p.V205V|GPR172A_uc003zcf.1_Silent_p.V205V|GPR172A_uc011llc.1_Silent_p.V117V NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 205 Helical; (Potential). integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CCCTTCTGGTCGCTTCAGCTG 0.652 NA 15 84 0 0 0.004007 0 0 TRPM3 80036 broad.mit.edu 37 9 73152282 73152282 + Silent SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:73152282C>T uc004aid.2 - 25 3955 c.3711G>A c.(3709-3711)GAG>GAA p.E1237E TRPM3_uc004ahu.2_Silent_p.E1079E|TRPM3_uc004ahv.2_Silent_p.E1039E|TRPM3_uc004ahw.2_Silent_p.E1109E|TRPM3_uc004ahx.2_Silent_p.E1096E|TRPM3_uc004ahy.2_Silent_p.E1099E|TRPM3_uc004ahz.2_Silent_p.E1086E|TRPM3_uc004aia.2_Silent_p.E1084E|TRPM3_uc004aib.2_Silent_p.E1074E|TRPM3_uc004aic.2_Silent_p.E1237E NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1262 Cytoplasmic (Potential).|Potential. integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 AGTGCTCTCTCTCGTTGACTT 0.602 NA 14 25 0 0 0.003163 0 0 TRPM6 140803 broad.mit.edu 37 9 77415379 77415379 + Silent SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:77415379G>A uc004ajl.1 - 17 2267 c.2029C>T c.(2029-2031)CTG>TTG p.L677L TRPM6_uc004ajk.1_Silent_p.L672L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Silent_p.L55L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 677 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 AACAAGTCCAGAGCCAGCTGG 0.458 NA 7 37 0 0 0.001984 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320553 79320553 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:79320553C>G uc010mpk.2 - 8 6761 c.6637G>C c.(6637-6639)GAT>CAT p.D2213H PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2213 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GGTGCCATATCTGGGCTGGCT 0.448 NA 24 66 0 0 0.004656 0 0 C9orf103 414328 broad.mit.edu 37 9 86258488 86258488 + Silent SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:86258488C>G uc004amu.1 + 5 371 c.357C>G c.(355-357)CTC>CTG p.L119L C9orf103_uc004amt.1_Silent_p.L73L|C9orf103_uc010mpv.1_Silent_p.L73L NM_001001551 NP_001001551 Q5T6J7 GNTK_HUMAN gluconokinase-like protein 119 carbohydrate metabolic process cytoplasm ATP binding|gluconokinase activity|shikimate kinase activity 0 AGATGCAGCTCCTGGTGGTCC 0.478 NA 16 47 0 0 0.004007 0 0 KIAA0368 23392 broad.mit.edu 37 9 114133964 114133964 + Silent SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:114133964T>C uc004bfe.1 - 44 5208 c.5208A>G c.(5206-5208)CCA>CCG p.P1736P NM_001080398 NP_001073867 KIAA0368 protein 0 TTCCGAGATATGGAGGTACTA 0.483 NA 78 88 0 0 0.01441 0 0 LHX6 26468 broad.mit.edu 37 9 124989209 124989209 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:124989209G>A uc010mvw.2 - 2 279 c.170C>T c.(169-171)TCT>TTT p.S57F LHX6_uc004blx.3_Missense_Mutation_p.S86F|LHX6_uc004bly.3_Missense_Mutation_p.S86F NM_014368 NP_055183 Q9UPM6 LHX6_HUMAN LIM homeobox protein 6 isoform 1 57 Required for interaction with LBD1 (By similarity). cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGAGGCGGCAGAGGGCGGTGA 0.647 NA 5 1 0 0 0.000602 0 0 SCAI 286205 broad.mit.edu 37 9 127904938 127904938 + Missense_Mutation SNP C C G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:127904938C>G uc004bpe.2 - 2 153 c.72G>C c.(70-72)GAG>GAC p.E24D SCAI_uc004bpd.2_Missense_Mutation_p.E24D|SCAI_uc010mwu.2_RNA NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 24 Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 GAGGCGGTTTCTCCACTGTGC 0.463 NA 4 32 0 0 0.009096 0 0 FNBP1 23048 broad.mit.edu 37 9 132687277 132687277 + Missense_Mutation SNP A A C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:132687277A>C uc004byw.1 - 9 1168 c.949T>G c.(949-951)TCC>GCC p.S317A FNBP1_uc011mbv.1_Missense_Mutation_p.S317A|FNBP1_uc011mbw.1_Missense_Mutation_p.S317A|FNBP1_uc004bza.2_Missense_Mutation_p.S317A|FNBP1_uc004byz.1_Missense_Mutation_p.S317A|FNBP1_uc004byx.1_Missense_Mutation_p.S238A|FNBP1_uc004byy.1_Missense_Mutation_p.S238A NM_015033 NP_055848 Q96RU3 FNBP1_HUMAN formin binding protein 1 317 Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding 0 Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TTTCCTTTGGATTTGCCACCA 0.403 NA T MLL AML 7 20 0 0 0.00308 0 0 TBL1X 6907 broad.mit.edu 37 X 9679741 9679741 + Silent SNP C C T rs139999402 TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:9679741C>T uc010ndq.2 + 16 1898 c.1530C>T c.(1528-1530)AGC>AGT p.S510S TBL1X_uc004csq.3_Silent_p.S459S|TBL1X_uc010ndr.2_Silent_p.S459S|TBL1X_uc004csr.2_Silent_p.S510S|TBL1X_uc004css.2_Silent_p.S461S NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 510 WD 7. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) CTGTCTATAGCGTAGCTTTCA 0.532 NA 25 8 0 0 0.00278 0 0 MSL3 10943 broad.mit.edu 37 X 11778578 11778578 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:11778578G>C uc004cuw.2 + 3 347 c.242G>C c.(241-243)AGA>ACA p.R81T MSL3_uc004cuv.1_Missense_Mutation_p.R81T|MSL3_uc004cux.2_Missense_Mutation_p.R22T|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Missense_Mutation_p.R69T|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 81 Chromo. histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GAAAATCGTAGATTACAGCGT 0.348 NA 21 15 0 0 0.012319 0 0 WDR45 11152 broad.mit.edu 37 X 48933333 48933333 + Missense_Mutation SNP G G A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:48933333G>A uc004dmk.1 - 8 768 c.596C>T c.(595-597)TCT>TTT p.S199F PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.S97F|WDR45_uc004dmj.1_Missense_Mutation_p.S160F|WDR45_uc004dml.1_Missense_Mutation_p.S200F|WDR45_uc004dmm.1_Missense_Mutation_p.S164F|WDR45_uc010nim.1_Missense_Mutation_p.S199F|WDR45_uc004dmn.1_Missense_Mutation_p.S90F|WDR45_uc004dmo.1_Missense_Mutation_p.S222F|WDR45_uc004dmp.1_Missense_Mutation_p.S200F NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 199 WD 2. autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 CTGGTTTAGAGACACACAGGC 0.562 NA 7 3 0 0 0.001984 0 0 TRO 7216 broad.mit.edu 37 X 54956769 54956769 + Missense_Mutation SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:54956769C>A uc004dtq.2 + 12 3719 c.3612C>A c.(3610-3612)AGC>AGA p.S1204R TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.S735R|TRO_uc004dtw.2_Missense_Mutation_p.S807R|TRO_uc004dtx.2_Missense_Mutation_p.S587R NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1204 62 X 10 AA approximate tandem repeats.|40. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 ATGGGTTAAGCACCAATGCTG 0.552 NA 23 14 3.62473e-10 4.29598e-10 0.012319 1 0 MED12 9968 broad.mit.edu 37 X 70340946 70340946 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:70340946G>C uc004dyy.2 + 5 878 c.679G>C c.(679-681)GAG>CAG p.E227Q MED12_uc011mpq.1_Missense_Mutation_p.E227Q|MED12_uc004dyz.2_Missense_Mutation_p.E227Q|MED12_uc004dza.2_Missense_Mutation_p.E74Q NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 227 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CCATGATGTAGAGGTGGCAAT 0.557 NA 24 59 0 0 0.003954 0 0 UPRT 139596 broad.mit.edu 37 X 74494380 74494380 + Silent SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:74494380A>G uc004ecb.1 + 1 420 c.291A>G c.(289-291)CTA>CTG p.L97L UPRT_uc010nlu.1_Silent_p.L97L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Silent_p.L97L|UPRT_uc004ece.1_5'Flank NM_145052 NP_659489 Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog 97 nucleoside metabolic process cytoplasm|nucleus 0 ACTCCTTCCTAGAGGACTGCG 0.577 NA 17 9 0 0 0.00499 0 0 ZNF711 7552 broad.mit.edu 37 X 84510281 84510281 + Silent SNP T T G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:84510281T>G uc004eeo.2 + 4 443 c.96T>G c.(94-96)GGT>GGG p.G32G ZNF711_uc004eep.2_Silent_p.G32G|ZNF711_uc004eeq.2_Silent_p.G32G NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 32 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 GAATGGCTGGTACTGCACATA 0.328 NA 7 21 0 0 0.010504 0 0 PABPC5 140886 broad.mit.edu 37 X 90691232 90691232 + Missense_Mutation SNP T T C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:90691232T>C uc004efg.2 + 2 1096 c.656T>C c.(655-657)TTC>TCC p.F219S PABPC5_uc004eff.1_Missense_Mutation_p.F55S NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 219 RRM 3. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 AAGGAACTTTTCTGTGAATAT 0.438 NA 15 14 0 0 0.00245 0 0 DDX26B 203522 broad.mit.edu 37 X 134679428 134679428 + Missense_Mutation SNP G G C TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:134679428G>C uc004eyw.3 + 3 633 c.270G>C c.(268-270)CAG>CAC p.Q90H NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 90 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) CTCTCGGTCAGGCTCTAAGAT 0.358 NA 30 40 0 0 0.007291 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716991 142716991 + Missense_Mutation SNP C C T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:142716991C>T uc004fbx.2 - 2 2310 c.1934G>A c.(1933-1935)CGC>CAC p.R645H SLITRK4_uc004fby.2_Missense_Mutation_p.R645H NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 645 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTTCTTGTTGCGTCGCAGGAC 0.458 NA 25 61 0 0 0.00333 0 0 OR14A16 284532 broad.mit.edu 37 1 247978907 247978921 + In_Frame_Del DEL AGGACATTCCCCATC AGGACATTCCCCATC - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 AGGACATTCCCCATC AGGACATTCCCCATC - - AGGACATTCCCCATC AGGACATTCCCCATC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr1:247978907_247978921delAGGACATTCCCCATC uc001idm.1 - 1 111_125 c.111_125delGATGGGGAATGTCCT c.(109-126)CTGATGGGGAATGTCCTC>CTC p.37_42LMGNVL>L NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 37_42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATGATAATGAGGACATTCCCCATCAGGGCACACA 0.386 Ovarian(112;180 1586 15073 21914 33526) NA 15 35 --- --- --- --- NA NA NA NA NA MTSS1L 92154 broad.mit.edu 37 16 70697685 70697694 + Frame_Shift_Del DEL GGCTGGGGGT GGCTGGGGGT - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 GGCTGGGGGT GGCTGGGGGT - - GGCTGGGGGT GGCTGGGGGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr16:70697685_70697694delGGCTGGGGGT uc002ezj.2 - 15 2390_2399 c.2130_2139delACCCCCAGCC c.(2128-2139)CCACCCCCAGCCfs p.P710fs NM_138383 NP_612392 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 710_713 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding central_nervous_system(1) 1 CGCTGGTGGCGGCTGGGGGTGGGGTGGGCG 0.733 NA 3 3 --- --- --- --- NA NA NA NA NA CEP68 23177 broad.mit.edu 37 2 65296785 65296786 + Frame_Shift_Ins INS - - A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr2:65296785_65296786insA uc002sdl.3 + 2 421_422 c.207_208insA c.(205-210)GGGACTfs p.G69fs CEP68_uc002sdj.2_Frame_Shift_Ins_p.G69fs|CEP68_uc010yqb.1_Frame_Shift_Ins_p.G69fs|CEP68_uc002sdk.3_Frame_Shift_Ins_p.G69fs|CEP68_uc010yqc.1_Frame_Shift_Ins_p.G69fs|CEP68_uc010yqd.1_Frame_Shift_Ins_p.G69fs NM_015147 NP_055962 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 69_70 centrosome organization centrosome skin(1) 1 GCTGGATTGGGACTGACCCTGG 0.649 NA 61 56 --- --- --- --- NA NA NA NA NA PRKG2 5593 broad.mit.edu 37 4 82074817 82074817 + Frame_Shift_Del DEL A A - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr4:82074817delA uc003hmh.2 - 6 985 c.971delT c.(970-972)TTCfs p.F324fs PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Frame_Shift_Del_p.F324fs NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 324 cGMP 2. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 TGCCAAAATGAAAAAGGTACT 0.313 NA 8 138 --- --- --- --- NA NA NA NA NA SAMD9 54809 broad.mit.edu 37 7 92733829 92733829 + Frame_Shift_Del DEL G G - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr7:92733829delG uc003umf.2 - 3 1838 c.1582delC c.(1582-1584)CTTfs p.L528fs SAMD9_uc003umg.2_Frame_Shift_Del_p.L528fs NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 528 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TCATGTGTAAGAAATGAAATC 0.408 NA 14 289 --- --- --- --- NA NA NA NA NA GRHL2 79977 broad.mit.edu 37 8 102656404 102656405 + Frame_Shift_Ins INS - - T TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr8:102656404_102656405insT uc010mbu.2 + 13 1893_1894 c.1563_1564insT c.(1561-1566)GAGTTTfs p.E521fs NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 521_522 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TGGAAGAGGAGTTTGGTCCAGT 0.495 NA 11 53 --- --- --- --- NA NA NA NA NA RORB 6096 broad.mit.edu 37 9 77286749 77286750 + Frame_Shift_Ins INS - - A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chr9:77286749_77286750insA uc004aji.2 + 9 1238_1239 c.1189_1190insA c.(1189-1191)GAAfs p.E397fs RORB_uc004ajh.2_Frame_Shift_Ins_p.E386fs NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 397 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 GAAGCTTCAGGAAAAAATTTAT 0.446 NA 7 26 --- --- --- --- NA NA NA NA NA GRIPAP1 56850 broad.mit.edu 37 X 48849862 48849863 + Frame_Shift_Del DEL TG TG - TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6a1d3fc1-6884-497f-93f8-95fcd33c6eb2 9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab g.chrX:48849862_48849863delTG uc004dly.1 - 6 469_470 c.434_435delCA c.(433-435)ACAfs p.T145fs GRIPAP1_uc004dlz.2_5'Flank|GRIPAP1_uc004dma.2_Intron NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 145 Potential. early endosome breast(2)|kidney(1) 3 TCTGCAAGGCTGTGTTTTCAGC 0.614 NA 11 6 --- --- --- --- NA NA NA NA NA