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 PTCHD2 57540 broad.mit.edu 37 1 11562047 11562047 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:11562047G>T uc001ash.3 + 2 1136 c.998G>T c.(997-999)TGC>TTC p.C333F PTCHD2_uc001asi.1_Missense_Mutation_p.C333F NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 333 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TACTCCTACTGCTCGCCCCCC 0.622 NA 5 48 3.59834e-05 4.318e-05 0.001168 1 0 UBXN10 127733 broad.mit.edu 37 1 20517245 20517245 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:20517245C>T uc001bdb.2 + 2 275 c.191C>T c.(190-192)CCA>CTA p.P64L NM_152376 NP_689589 Q96LJ8 UBX10_HUMAN UBX domain protein 10 64 ovary(1) 1 CATCATATACCATCTCCGCCT 0.537 NA 9 76 0 0 0.008291 0 0 EIF4G3 8672 broad.mit.edu 37 1 21212859 21212859 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:21212859C>A uc001bec.2 - 14 2347 c.2091G>T c.(2089-2091)TTG>TTT p.L697F EIF4G3_uc010odi.1_Missense_Mutation_p.L301F|EIF4G3_uc010odj.1_Missense_Mutation_p.L696F|EIF4G3_uc009vpz.2_Missense_Mutation_p.L417F|EIF4G3_uc001bed.2_Missense_Mutation_p.L697F|EIF4G3_uc001bef.2_Missense_Mutation_p.L733F|EIF4G3_uc001bee.2_Missense_Mutation_p.L703F NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 697 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) ACCCAACATTCAACAACTAGG 0.398 NA 8 270 0.00307968 0.00335965 0.00308 1 0 C1orf94 84970 broad.mit.edu 37 1 34677938 34677938 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:34677938C>A uc001bxs.3 + 6 1481 c.1082C>A c.(1081-1083)TCT>TAT p.S361Y C1orf94_uc001bxt.2_Missense_Mutation_p.S551Y NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 361 protein binding 0 Myeloproliferative disorder(586;0.0393) CCAAAGATGTCTGCCAACCCC 0.567 NA 5 64 0.00307968 0.00335965 0.00308 1 0 FUBP1 8880 broad.mit.edu 37 1 78430042 78430042 + Splice_Site SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:78430042C>A uc001dii.2 - 11 927 c.838_splice c.e11-1 p.V280_splice FUBP1_uc001dih.3_Splice_Site|FUBP1_uc010orm.1_Splice_Site_p.V301_splice NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 GAATGGGGACCTTATGTAAAA 0.338 NA 8 62 0.00448238 0.00484979 0.004482 1 0 COL24A1 255631 broad.mit.edu 37 1 86512537 86512537 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:86512537G>T uc001dlj.2 - 12 1963 c.1921C>A c.(1921-1923)CGT>AGT p.R641S COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.R641S NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 641 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ttctttccacggatcccagga 0.179 NA 12 155 4.36969e-10 6.74619e-10 0.016723 1 0 LPPR5 163404 broad.mit.edu 37 1 99418685 99418685 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:99418685G>T uc001dsb.2 - 3 784 c.562C>A c.(562-564)CGA>AGA p.R188R LPPR5_uc001dsc.2_Silent_p.R188R NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 188 integral to membrane hydrolase activity 0 AAGGTTTTTCGGGCTCTCATG 0.423 NA 11 113 3.07112e-06 3.84254e-06 0.010729 1 0 Unknown 0 broad.mit.edu 37 1 104260732 104260732 + Splice_Site SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:104260732G>T uc010our.1 + 4 478 c.356_splice c.e4+1 p.R119_splice NM_000699 NP_000690 pancreatic amylase alpha 2A precursor NA GCCAAATAAGGTGAGAATATG 0.333 NA 34 581 3.77016e-25 7.59788e-25 0.013114 1 0 KCNA2 3737 broad.mit.edu 37 1 111146525 111146525 + Missense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:111146525G>A uc001dzu.2 - 2 1376 c.880C>T c.(880-882)CGT>TGT p.R294C KCNA2_uc009wfv.1_Missense_Mutation_p.R294C|KCNA2_uc009wfw.2_Missense_Mutation_p.R294C NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 294 Helical; Voltage-sensor; Name=Segment S4; (Potential). juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CGGATGACACGGAGGATGGCC 0.537 Pancreas(18;568 735 10587 23710 36357) NA 11 140 0 0 0.00499 0 0 NBPF7 343505 broad.mit.edu 37 1 120384102 120384102 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:120384102C>A uc010oxk.1 - 3 1081 c.460G>T c.(460-462)GAT>TAT p.D154Y NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 154 cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) TCATGCTTATCCGGAGTGAGA 0.567 NA 24 179 9.57634e-11 1.55101e-10 0.01892 1 0 ADAM30 11085 broad.mit.edu 37 1 120438759 120438759 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:120438759C>A uc001eij.2 - 1 355 c.201G>T c.(199-201)CAG>CAT p.Q67H NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 67 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TGCCTTTTAACTGCAGTAGGT 0.542 NA 18 98 0.000132079 0.000154287 0.008871 1 0 SEMA4A 64218 broad.mit.edu 37 1 156126349 156126349 + Missense_Mutation SNP C C G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:156126349C>G uc001fnl.2 + 3 388 c.284C>G c.(283-285)CCC>CGC p.P95R SEMA4A_uc009wrq.2_Missense_Mutation_p.P95R|SEMA4A_uc001fnm.2_Missense_Mutation_p.P95R|SEMA4A_uc001fnn.2_5'UTR|SEMA4A_uc001fno.2_Missense_Mutation_p.P95R NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 95 Sema.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CCAGGGGTCCCCAGGCTAAAG 0.567 NA 15 43 0 0 0.00499 0 0 FCRL1 115350 broad.mit.edu 37 1 157771827 157771827 + Missense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:157771827G>A uc001frg.2 - 5 877 c.764C>T c.(763-765)CCC>CTC p.P255L FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.P255L|FCRL1_uc001fri.2_Missense_Mutation_p.P255L|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 255 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCCTCCAGAGGGGGCCGACCT 0.582 GBM(54;482 1003 11223 30131 35730) NA 33 99 0 0 0.012213 0 0 CD1D 912 broad.mit.edu 37 1 158152847 158152847 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:158152847C>A uc001frr.2 + 5 1286 c.787C>A c.(787-789)CTC>ATC p.L263I CD1D_uc009wss.2_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 263 Ig-like.|Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) GACATGGTATCTCCGAGCAAC 0.617 NA 26 107 6.38683e-12 1.07396e-11 0.008361 1 0 OR6K6 128371 broad.mit.edu 37 1 158724748 158724748 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:158724748C>A uc001fsw.1 + 1 143 c.143C>A c.(142-144)GCG>GAG p.A48E NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 48 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) TTCCCGCATGCGCACAGAGGT 0.453 NA 33 277 9.17885e-22 1.80837e-21 0.015359 1 0 NIT1 4817 broad.mit.edu 37 1 161088936 161088937 + Missense_Mutation DNP GG GG TT rs144963228 byFrequency TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:161088936_161088937GG>TT uc001fxv.1 + 3 187_188 c.111_112GG>TT c.(109-114)ATGGCT>ATTTCT p.37_38MA>IS PFDN2_uc001fxu.2_5'Flank|NIT1_uc001fxw.2_Missense_Mutation_p.37_38MA>IS|NIT1_uc001fxx.1_Missense_Mutation_p.1_2MA>IS|NIT1_uc001fxy.1_Missense_Mutation_p.1_2MA>IS|NIT1_uc010pka.1_Missense_Mutation_p.22_23MA>IS NM_005600 NP_005591 Q86X76 NIT1_HUMAN nitrilase 1 37_38 nitrogen compound metabolic process mitochondrion nitrilase activity 0 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCAGAGCCATGGCTATCTCCTC 0.515 NA 31 126 0 0 0.004672 0 0 DUSP27 92235 broad.mit.edu 37 1 167096659 167096659 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:167096659G>T uc001geb.1 + 5 2291 c.2291G>T c.(2290-2292)GGG>GTG p.G764V NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 764 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 AGCTGCCTGGGGGATGACCAA 0.567 NA 9 71 1.49906e-05 1.82374e-05 0.020292 1 0 TNR 7143 broad.mit.edu 37 1 175325510 175325510 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:175325510C>A uc001gkp.1 - 14 3144 c.3063G>T c.(3061-3063)ATG>ATT p.M1021I TNR_uc009wwu.1_Missense_Mutation_p.M1021I NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1021 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TGGTGGCATACATGGTGGCAG 0.507 NA 26 137 4.26978e-12 7.22578e-12 0.01892 1 0 ANGPTL1 9068 broad.mit.edu 37 1 178834573 178834573 + Silent SNP C C G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:178834573C>G uc001gma.2 - 3 815 c.339G>C c.(337-339)GTG>GTC p.V113V RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Silent_p.V113V|ANGPTL1_uc010pnc.1_Silent_p.V35V NM_004673 NP_004664 O95841 ANGL1_HUMAN angiopoietin-like 1 precursor 113 Potential. extracellular space receptor binding 0 TTACCTCATTCACAATGTTTC 0.438 NA 8 172 0 0 0.004482 0 0 TDRD5 163589 broad.mit.edu 37 1 179562935 179562935 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:179562935C>A uc001gnf.1 + 3 823 c.573C>A c.(571-573)ACC>ACA p.T191T TDRD5_uc010pnp.1_Silent_p.T191T NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 191 Lotus/OST-HTH 2. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 TAGAGCAGACCAGAGCAGGTT 0.433 NA 48 106 2.24722e-20 4.33041e-20 0.01441 1 0 FAM5C 339479 broad.mit.edu 37 1 190423996 190423996 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:190423996C>A uc001gse.1 - 2 257 c.25G>T c.(25-27)GCT>TCT p.A9S FAM5C_uc010pot.1_5'UTR NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 9 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) AACAATTCAGCACCAGCTCTG 0.478 NA 17 53 8.10497e-08 1.13815e-07 0.010504 1 0 ASPM 259266 broad.mit.edu 37 1 197057403 197057403 + Missense_Mutation SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:197057403T>A uc001gtu.2 - 26 10401 c.10144A>T c.(10144-10146)ACA>TCA p.T3382S ASPM_uc001gtv.2_Missense_Mutation_p.T1797S|ASPM_uc001gtw.3_Missense_Mutation_p.T1230S NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3382 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTATTTGTTGTCTTCAGTAAA 0.333 NA 21 210 0 0 0.010504 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204375279 204375279 + Missense_Mutation SNP T T C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:204375279T>C uc001hav.3 - 2 2488 c.2083A>G c.(2083-2085)ATG>GTG p.M695V NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 695 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CTATTAAACATTCTTTCTCTG 0.403 NA 69 176 0 0 0.01441 0 0 SLC26A9 115019 broad.mit.edu 37 1 205897047 205897047 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:205897047C>T uc001hdq.2 - 9 1198 c.1084G>A c.(1084-1086)GAC>AAC p.D362N SLC26A9_uc001hdo.2_Missense_Mutation_p.D30N|SLC26A9_uc001hdp.2_Missense_Mutation_p.D362N NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 362 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GAATCCACGTCGTAGCCGTGC 0.587 NA 13 108 0 0 0.004007 0 0 TRIM11 81559 broad.mit.edu 37 1 228584677 228584677 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:228584677C>A uc001hss.2 - 5 1085 c.830G>T c.(829-831)GGA>GTA p.G277V TRIM11_uc010pvx.1_Missense_Mutation_p.G276V|TRIM11_uc001hst.1_Missense_Mutation_p.G277V NM_145214 NP_660215 Q96F44 TRI11_HUMAN tripartite motif-containing 11 277 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding p.G277*(1) lung(3)|ovary(1) 4 Prostate(94;0.0724) CTCTACCAGTCCCGGGACCCT 0.637 NA 11 82 6.31663e-08 8.96553e-08 0.003163 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232574993 232574993 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:232574993C>A uc001hvg.2 - 13 4050 c.3892G>T c.(3892-3894)GCT>TCT p.A1298S SIPA1L2_uc001hvf.2_Missense_Mutation_p.A372S NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1298 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCAGCATCAGCCCACTGCTCG 0.662 NA 16 47 1.56452e-12 2.68204e-12 0.007413 1 0 RYR2 6262 broad.mit.edu 37 1 237819276 237819276 + Missense_Mutation SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:237819276T>A uc001hyl.1 + 53 8241 c.8121T>A c.(8119-8121)GAT>GAA p.D2707E NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2707 Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AACCTGTTGATACCTCAAAGT 0.358 NA 15 41 0 0 0.003163 0 0 FMN2 56776 broad.mit.edu 37 1 240370817 240370817 + Missense_Mutation SNP T T G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:240370817T>G uc010pyd.1 + 5 2930 c.2705T>G c.(2704-2706)CTG>CGG p.L902R FMN2_uc010pye.1_Missense_Mutation_p.L906R NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 902 Pro-rich.|FH1. 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) CCTCCTCCTCTGCAGGGTACA 0.662 NA 13 103 0 0 0.014323 0 0 OR6F1 343169 broad.mit.edu 37 1 247875730 247875730 + Missense_Mutation SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:247875730T>A uc001idj.1 - 1 328 c.328A>T c.(328-330)ACA>TCA p.T110S NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAGTACTCTGTGCAGCCTAAT 0.498 NA 26 77 0 0 0.021523 0 0 OR2T6 254879 broad.mit.edu 37 1 248551067 248551067 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:248551067C>A uc001iei.1 + 1 158 c.158C>A c.(157-159)CCT>CAT p.P53H NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AACATAGACCCTCATCTCCAC 0.458 NA 39 93 6.04917e-29 1.23797e-28 0.006999 1 0 OR2T6 254879 broad.mit.edu 37 1 248551409 248551409 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:248551409C>A uc001iei.1 + 1 500 c.500C>A c.(499-501)CCG>CAG p.P167Q NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGAGTCTCCCGTTCTGTGCC 0.537 NA 12 46 1.08611e-07 1.478e-07 0.010729 1 0 OR2T2 401992 broad.mit.edu 37 1 248616371 248616371 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:248616371G>T uc001iek.1 + 1 273 c.273G>T c.(271-273)AAG>AAT p.K91N NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCAAGGACAAGACCATTTCCT 0.522 NA 47 300 9.59449e-18 1.80925e-17 0.01441 1 0 PRPF18 8559 broad.mit.edu 37 10 13655795 13655795 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr10:13655795C>T uc001imp.2 + 7 782 c.634C>T c.(634-636)CGC>TGC p.R212C PRPF18_uc001imq.2_Intron NM_003675 NP_003666 Q99633 PRP18_HUMAN PRP18 pre-mRNA processing factor 18 homolog 212 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1) 1 TTATGTGAAACGCAGTGTGCA 0.453 NA 16 84 0 0 0.004007 0 0 LOC387646 387646 broad.mit.edu 37 10 27538888 27538888 + Nonsense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr10:27538888G>A uc001its.2 - 1 2348 c.505C>T c.(505-507)CAG>TAG p.Q169* NR_003525 SubName: Full=cDNA FLJ44924 fis, clone BRAMY3014555; 0 TCAGCAGTCTGTGGATGCTCA 0.498 NA 22 143 0 0 0.016522 0 0 OR52N2 390077 broad.mit.edu 37 11 5841641 5841641 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:5841641C>A uc010qzp.1 + 1 76 c.76C>A c.(76-78)CAC>AAC p.H26N TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 26 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAAGCCACACACATCTGGAT 0.547 NA 8 85 1.61879e-10 2.59007e-10 0.013537 1 0 OR10A3 26496 broad.mit.edu 37 11 7960520 7960520 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:7960520G>T uc010rbi.1 - 1 548 c.548C>A c.(547-549)CCG>CAG p.P183Q NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCTAGTACCGGGGGAGTCTC 0.433 NA 4 106 0.00909568 0.00960504 0.009096 1 0 IPO7 10527 broad.mit.edu 37 11 9463643 9463643 + Missense_Mutation SNP A A G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:9463643A>G uc001mho.2 + 24 3060 c.2918A>G c.(2917-2919)AAT>AGT p.N973S NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 973 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) CAAAATCGTAATCCTGTGTGG 0.403 NA 16 96 0 0 0.007413 0 0 SOX6 55553 broad.mit.edu 37 11 15994629 15994629 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:15994629C>A uc001mme.2 - 16 2285 c.2252G>T c.(2251-2253)GGA>GTA p.G751V SOX6_uc001mmd.2_Missense_Mutation_p.G714V|SOX6_uc001mmf.2_Missense_Mutation_p.G711V|SOX6_uc001mmg.2_Missense_Mutation_p.G718V NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 738 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 AACACCTGTTCCTGTGGTGAT 0.468 NA 8 71 5.4927e-09 8.10097e-09 0.004482 1 0 LDLRAD3 143458 broad.mit.edu 37 11 36250716 36250716 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:36250716G>T uc001mwk.1 + 6 844 c.807G>T c.(805-807)GCG>GCT p.A269A LDLRAD3_uc010rey.1_Silent_p.A220A|LDLRAD3_uc010rez.1_Silent_p.A148A|LDLRAD3_uc010rfa.1_RNA NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 269 Cytoplasmic (Potential). integral to membrane receptor activity central_nervous_system(1) 1 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) ACAGGCCTGCGTGGTATGACC 0.592 NA 30 204 2.61193e-14 4.62785e-14 0.009535 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136265 40136265 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:40136265G>T uc001mxa.1 - 2 3542 c.1578C>A c.(1576-1578)ACC>ACA p.T526T LRRC4C_uc001mxc.1_Silent_p.T522T|LRRC4C_uc001mxd.1_Silent_p.T522T|LRRC4C_uc001mxb.1_Silent_p.T522T NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 526 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TGATGATTTTGGTAGTCTTCA 0.468 NA 12 87 4.3838e-07 5.75783e-07 0.016723 1 0 OR4A47 403253 broad.mit.edu 37 11 48510590 48510590 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:48510590C>A uc010rhx.1 + 1 246 c.246C>A c.(244-246)GGC>GGA p.G82G NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G82S(1) ovary(1)|skin(1) 2 TGATTTCAGGCTTGTTCTTTG 0.428 NA 27 178 7.26314e-15 1.3044e-14 0.007291 1 0 OR4P4 81300 broad.mit.edu 37 11 55406314 55406314 + Missense_Mutation SNP A A G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:55406314A>G uc010rij.1 + 1 481 c.481A>G c.(481-483)ACC>GCC p.T161A NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GTTTCTTCTCACCATCTTTGT 0.393 NA 20 176 0 0 0.008871 0 0 OR5F1 338674 broad.mit.edu 37 11 55761412 55761412 + Silent SNP C C G rs144082157 byFrequency TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:55761412C>G uc010riv.1 - 1 690 c.690G>C c.(688-690)TCG>TCC p.S230S NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TCCCCTCCCCCGAATGCATAG 0.478 NA 8 41 0 0 0.00308 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409316 56409316 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:56409316G>T uc001njb.1 - 1 600 c.600C>A c.(598-600)TTC>TTA p.F200L NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 200 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 CAATGCCATTGAAGTGGGTAT 0.423 NA 30 192 4.62619e-21 8.98025e-21 0.019004 1 0 OR10W1 81341 broad.mit.edu 37 11 58035114 58035114 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:58035114G>T uc001nmq.1 - 1 619 c.217C>A c.(217-219)CTG>ATG p.L73M NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 73 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GTGTTGGCCAGGATATGGGGC 0.507 NA 15 78 1.15088e-07 1.55016e-07 0.004007 1 0 AHNAK 79026 broad.mit.edu 37 11 62287633 62287633 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:62287633G>A uc001ntl.2 - 5 14556 c.14256C>T c.(14254-14256)GGC>GGT p.G4752G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4752 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CAGCTTCTGGGCCCTTGAGGT 0.507 NA 23 206 0 0 0.014323 0 0 C11orf68 83638 broad.mit.edu 37 11 65685409 65685409 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:65685409C>A uc001ogi.2 - 2 432 c.403G>T c.(403-405)GTG>TTG p.V135L C11orf68_uc009yqv.2_Missense_Mutation_p.V134L|DRAP1_uc001ogj.1_5'Flank NM_001135635 NP_001129107 Q9H3H3 CK068_HUMAN basophilic leukemia expressed protein BLES03 93 0 READ - Rectum adenocarcinoma(159;0.166) AGGCCCTGCACGTCCCCGGAG 0.657 NA 5 51 0.000442599 0.000503648 0.006214 1 0 PAFAH1B2 5049 broad.mit.edu 37 11 117038323 117038323 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:117038323G>T uc001pqe.1 + 6 700 c.598G>T c.(598-600)GGG>TGG p.G200W PAFAH1B2_uc009yzk.1_Intron|PAFAH1B2_uc009yzl.1_Intron|PAFAH1B2_uc009yzm.2_Intron|PAFAH1B2_uc009yzn.2_Intron|PAFAH1B2_uc009yzj.1_RNA|uc001pqf.2_5'Flank NM_002572 NP_002563 P68402 PA1B2_HUMAN platelet-activating factor acetylhydrolase, 200 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity kidney(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111) TCTGACAGGAGGGGGCTATGC 0.532 NA T IGH@ MLCLS 7 67 0.00010058 0.000118014 0.013537 1 0 SCN3B 55800 broad.mit.edu 37 11 123508905 123508905 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr11:123508905G>T uc001pza.1 - 5 980 c.573C>A c.(571-573)GCC>GCA p.A191A SCN3B_uc001pzb.1_Silent_p.A191A NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 191 Cytoplasmic (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) CGTTTTCTTGGGCTGCCTCTT 0.308 NA 10 41 2.17888e-05 2.63864e-05 0.006214 1 0 DDX11 1663 broad.mit.edu 37 12 31249876 31249876 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:31249876G>T uc001rjt.1 + 17 1965 c.1714G>T c.(1714-1716)GCT>TCT p.A572S DDX11_uc001rjr.1_Missense_Mutation_p.A572S|DDX11_uc001rjs.1_Missense_Mutation_p.A572S|DDX11_uc001rju.1_Missense_Mutation_p.A250S|DDX11_uc001rjv.1_Missense_Mutation_p.A572S|DDX11_uc001rjw.1_Missense_Mutation_p.A546S|DDX11_uc009zjn.1_RNA NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 572 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CTTCCTGGCAGCTCTCACTAC 0.602 NA Multiple Myeloma(12;0.14) 4 30 0.00909568 0.00960504 0.009096 1 0 IRAK4 51135 broad.mit.edu 37 12 44180315 44180315 + Silent SNP T T C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:44180315T>C uc001rnu.3 + 12 1432 c.1302T>C c.(1300-1302)AGT>AGC p.S434S IRAK4_uc001rnt.3_Silent_p.S434S|IRAK4_uc001rnx.3_Silent_p.S310S|IRAK4_uc001rny.3_Silent_p.S310S|IRAK4_uc010sky.1_Silent_p.S310S|IRAK4_uc001rnv.3_Silent_p.S310S|IRAK4_uc001rnw.3_Silent_p.S310S NM_001114182 NP_001107654 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 434 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) CTGTTGCTAGTCAATGTCTGC 0.308 NA 18 176 0 0 0.010504 0 0 PCBP2 5094 broad.mit.edu 37 12 53853102 53853102 + Missense_Mutation SNP C C T rs111807426 TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:53853102C>T uc001sdl.3 + 6 640 c.290C>T c.(289-291)CCG>CTG p.P97L PCBP2_uc001sdc.3_Missense_Mutation_p.P97L|PCBP2_uc001sdb.3_Missense_Mutation_p.P97L|PCBP2_uc001sde.3_Missense_Mutation_p.P97L|PCBP2_uc001sdi.3_Missense_Mutation_p.P97L|PCBP2_uc001sdd.3_Missense_Mutation_p.P97L|PCBP2_uc001sdf.3_Missense_Mutation_p.P97L|PCBP2_uc009zna.2_Missense_Mutation_p.P58L|PCBP2_uc010soh.1_Missense_Mutation_p.P97L|PCBP2_uc009zmz.1_Missense_Mutation_p.P39L|PCBP2_uc001sdg.1_RNA NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 isoform d 97 KH 2. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding 0 AGTAGACCCCCGGTCACCCTG 0.488 NA 13 95 0 0 0.010504 0 0 PAN2 9924 broad.mit.edu 37 12 56720127 56720127 + Silent SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:56720127C>T uc001skx.2 - 8 1702 c.1329G>A c.(1327-1329)GCG>GCA p.A443A PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.A443A|PAN2_uc001sky.2_Silent_p.A443A NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 443 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 GGGGATTGGGCGCATAGCCAA 0.542 NA 4 20 0 0 0.009096 0 0 RBMS2 5939 broad.mit.edu 37 12 56963712 56963712 + Missense_Mutation SNP T T C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:56963712T>C uc001sln.2 + 4 521 c.322T>C c.(322-324)TCA>CCA p.S108P RBMS2_uc010sqp.1_5'UTR|RBMS2_uc010sqq.1_5'UTR|RBMS2_uc009zou.2_5'UTR NM_002898 NP_002889 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting 108 RRM 1. RNA processing nucleus nucleotide binding|RNA binding 0 TGACAGCCCTTCAGCAGCACA 0.512 NA 18 115 0 0 0.006122 0 0 INHBC 3626 broad.mit.edu 37 12 57843212 57843212 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:57843212G>T uc001snv.1 + 2 593 c.466G>T c.(466-468)GGT>TGT p.G156C NM_005538 NP_005529 P55103 INHBC_HUMAN inhibin beta C chain preproprotein 156 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding 0 CCTTGTGCTGGGTCCACATAA 0.552 NA 34 162 3.21399e-22 6.42799e-22 0.021022 1 0 ANKS1B 56899 broad.mit.edu 37 12 99640640 99640640 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:99640640C>A uc001tge.1 - 13 2176 c.1759G>T c.(1759-1761)GAC>TAC p.D587Y ANKS1B_uc001tgf.1_Missense_Mutation_p.D167Y|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.D553Y NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 587 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CGGGAGAGGTCATCTGCAAAA 0.473 NA 35 238 1.66425e-11 2.76328e-11 0.021022 1 0 SLC17A8 246213 broad.mit.edu 37 12 100787146 100787146 + Splice_Site SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:100787146G>A uc010svi.1 + 4 787 c.474_splice c.e4-1 p.R158_splice SLC17A8_uc009ztx.2_Splice_Site_p.R158_splice NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TGGTCCCCCAGGGTCTTTGGA 0.453 NA 10 70 0 0 0.006214 0 0 SLC17A8 246213 broad.mit.edu 37 12 100787197 100787197 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:100787197C>T uc010svi.1 + 4 837 c.524C>T c.(523-525)CCC>CTC p.P175L SLC17A8_uc009ztx.2_Missense_Mutation_p.P175L NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 175 Vesicular (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 ATGTTTATTCCCTCTGCAGCC 0.463 NA 7 102 0 0 0.008291 0 0 POLR3B 55703 broad.mit.edu 37 12 106821053 106821053 + Nonsense_Mutation SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:106821053A>T uc001tlp.2 + 13 1402 c.1180A>T c.(1180-1182)AAG>TAG p.K394* POLR3B_uc001tlq.2_Nonsense_Mutation_p.K336* NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 394 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 GGTGATTCCTAAGCAAAGAGC 0.363 NA 9 103 0 0 0.004482 0 0 TRPV4 59341 broad.mit.edu 37 12 110224614 110224614 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:110224614C>A uc001tpj.1 - 13 2332 c.2237G>T c.(2236-2238)CGC>CTC p.R746L TRPV4_uc001tpg.1_Missense_Mutation_p.R712L|TRPV4_uc001tph.1_Missense_Mutation_p.R699L|TRPV4_uc001tpi.1_Missense_Mutation_p.R639L|TRPV4_uc001tpk.1_Missense_Mutation_p.R746L|TRPV4_uc001tpl.1_Missense_Mutation_p.R686L NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 746 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GGGGAAGGAGCGCTCAATGTC 0.652 NA 5 36 3.59834e-05 4.318e-05 0.001168 1 0 TBX5 6910 broad.mit.edu 37 12 114804095 114804095 + Missense_Mutation SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:114804095T>A uc001tvo.2 - 8 1352 c.857A>T c.(856-858)AAT>ATT p.N286I TBX5_uc001tvp.2_Missense_Mutation_p.N286I|TBX5_uc001tvq.2_Missense_Mutation_p.N236I|TBX5_uc010syv.1_Missense_Mutation_p.N286I NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 286 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GGACCCCAAATTGGATGAGGT 0.577 NSCLC(152;1358 1980 4050 23898 40356) NA 20 126 0 0 0.021523 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137133 126137133 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:126137133C>A uc001uhe.1 + 8 2054 c.2046C>A c.(2044-2046)ATC>ATA p.I682I TMEM132B_uc001uhf.1_Silent_p.I194I NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 682 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AAAGGGCCATCGTCTCCACAG 0.607 NA 17 63 1.2644e-06 1.61257e-06 0.010504 1 0 SACS 26278 broad.mit.edu 37 13 23915491 23915491 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr13:23915491C>A uc001uon.2 - 10 3113 c.2524G>T c.(2524-2526)GAC>TAC p.D842Y SACS_uc001uoo.2_Missense_Mutation_p.D695Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 842 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTACAATGTCTGCTAAAAAT 0.363 NA 28 120 2.79863e-10 4.39785e-10 0.004656 1 0 FRY 10129 broad.mit.edu 37 13 32759184 32759184 + Missense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr13:32759184G>A uc001utx.2 + 26 3714 c.3218G>A c.(3217-3219)CGC>CAC p.R1073H FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1073 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GACTTGACCCGCATGCTCCTA 0.418 NA 6 310 0 0 0.001168 0 0 ZC3H13 23091 broad.mit.edu 37 13 46619113 46619113 + Silent SNP T T C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr13:46619113T>C uc010tfw.1 - 2 210 c.204A>G c.(202-204)AAA>AAG p.K68K ZC3H13_uc001vas.1_Silent_p.K68K|ZC3H13_uc001vat.1_Silent_p.K68K NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 68 nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TGCTATAACCTTTACCACGAG 0.378 Esophageal Squamous(187;747 2077 11056 31291 44172) NA 5 147 0 0 0.014758 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281203 49281203 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr13:49281203G>C uc010acx.1 + 6 933 c.250G>C c.(250-252)GAT>CAT p.D84H CYSLTR2_uc010acy.1_Missense_Mutation_p.D84H|CYSLTR2_uc010acz.1_Missense_Mutation_p.D84H|CYSLTR2_uc010ada.1_Missense_Mutation_p.D84H|CYSLTR2_uc010adb.1_Missense_Mutation_p.D84H|CYSLTR2_uc010adc.1_Missense_Mutation_p.D84H|CYSLTR2_uc010add.1_Missense_Mutation_p.D84H|CYSLTR2_uc010acw.1_Missense_Mutation_p.D84H|CYSLTR2_uc001vck.2_Missense_Mutation_p.D84H NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 84 Helical; Name=2; (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) GGCCATTTCAGATCTCCTGTT 0.443 NA 17 139 0 0 0.004007 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369995 86369995 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr13:86369995C>T uc001vll.1 - 2 1108 c.649G>A c.(649-651)GAC>AAC p.D217N SLITRK6_uc010afe.1_5'UTR NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 217 Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CATTTGTTGTCCTCCAACTGA 0.413 NA 45 146 0 0 0.010771 0 0 DZIP1 22873 broad.mit.edu 37 13 96274626 96274626 + Missense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr13:96274626G>A uc001vmk.2 - 9 1933 c.1081C>T c.(1081-1083)CAT>TAT p.H361Y DZIP1_uc001vml.2_Missense_Mutation_p.H361Y NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 361 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) ATGACATTATGGAAATCCTGG 0.423 NA 17 141 0 0 0.004007 0 0 NALCN 259232 broad.mit.edu 37 13 101755531 101755531 + Missense_Mutation SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr13:101755531T>A uc001vox.1 - 26 3238 c.3049A>T c.(3049-3051)ATT>TTT p.I1017F NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1017 Helical; Name=S5 of repeat III; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACCAAAAAAATTTCCTTGAAG 0.438 NA 22 205 0 0 0.014323 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885288 24885288 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr14:24885288G>T uc001wpf.3 + 9 4651 c.4333G>T c.(4333-4335)GCC>TCC p.A1445S NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1445 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GGACACCCTGGCCAAGCAGGG 0.582 NA 10 55 9.70103e-10 1.48899e-09 0.008291 1 0 PAPLN 89932 broad.mit.edu 37 14 73725989 73725989 + Missense_Mutation SNP A A G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr14:73725989A>G uc010ttx.1 + 15 1884 c.1721A>G c.(1720-1722)CAG>CGG p.Q574R PAPLN_uc001xnw.3_Missense_Mutation_p.Q547R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.Q574R|PAPLN_uc010arm.2_5'Flank NM_173462 NP_775733 O95428 PPN_HUMAN papilin 574 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) TCCAGAGGCCAGTGGTGGGCA 0.647 NA 7 143 0 0 0.008291 0 0 FLRT2 23768 broad.mit.edu 37 14 86089492 86089492 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr14:86089492G>T uc001xvr.2 + 2 2401 c.1634G>T c.(1633-1635)GGC>GTC p.G545V FLRT2_uc010atd.2_Missense_Mutation_p.G545V NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 545 Helical; (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) CTGCTGGCGGGCTTGATCGGG 0.587 NA 11 88 4.36969e-10 6.74619e-10 0.016723 1 0 SERPINA12 145264 broad.mit.edu 37 14 94964180 94964180 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr14:94964180G>T uc001ydj.2 - 3 1351 c.555C>A c.(553-555)ACC>ACA p.T185T NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 185 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) TTTTCCCATGGGTTTTTTGAC 0.373 NA 30 183 1.08312e-15 1.95852e-15 0.009535 1 0 SERPINA4 5267 broad.mit.edu 37 14 95034546 95034546 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr14:95034546G>T uc001ydk.2 + 4 1070 c.1004G>T c.(1003-1005)AGG>ATG p.R335M SERPINA4_uc010avd.2_Missense_Mutation_p.R372M|SERPINA4_uc001ydl.2_Missense_Mutation_p.R335M NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 335 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) ATTTTGCCCAGGCTGGGCTTC 0.458 NA 45 191 1.8453e-21 3.60858e-21 0.010771 1 0 MKRN3 7681 broad.mit.edu 37 15 23811566 23811566 + Missense_Mutation SNP C C G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr15:23811566C>G uc001ywh.3 + 1 1113 c.637C>G c.(637-639)CGG>GGG p.R213G MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R213G NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 213 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GCAGCCCTACCGGGGCCGCTG 0.587 NA 5 33 0 0 0.001168 0 0 TRPM1 4308 broad.mit.edu 37 15 31362381 31362381 + Missense_Mutation SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr15:31362381A>T uc001zfm.2 - 3 194 c.66T>A c.(64-66)AGT>AGA p.S22R TRPM1_uc010azy.2_5'Flank|TRPM1_uc001zfl.2_5'Flank|TRPM1_uc001zfn.3_Missense_Mutation_p.S22R|uc010ubn.1_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 22 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TGGGTGTTGCACTTGGCAGAG 0.512 NA 54 455 0 0 0.01441 0 0 RYR3 6263 broad.mit.edu 37 15 33945030 33945030 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr15:33945030C>A uc001zhi.2 + 32 4324 c.4254C>A c.(4252-4254)GCC>GCA p.A1418A RYR3_uc010bar.2_Silent_p.A1418A NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1418 4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGGATCTGGCCATGGGCATGT 0.577 NA 10 63 1.76689e-08 2.5214e-08 0.006214 1 0 MGA 23269 broad.mit.edu 37 15 42042472 42042472 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr15:42042472G>T uc010ucy.1 + 17 6848 c.6667G>T c.(6667-6669)GAC>TAC p.D2223Y MGA_uc010ucz.1_Missense_Mutation_p.D2014Y|MGA_uc010uda.1_Missense_Mutation_p.D839Y|MGA_uc001zoi.2_Missense_Mutation_p.D437Y NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2184 Basic motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGGCATCTCTGACTTACTTGG 0.378 NA 24 170 6.21321e-17 1.15513e-16 0.016522 1 0 CHRNB4 1143 broad.mit.edu 37 15 78921890 78921890 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr15:78921890C>A uc002bed.1 - 5 869 c.757G>T c.(757-759)GTC>TTC p.V253F CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.V71F NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 253 Helical; (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 AGGTAGAAGACGAGGATGGCC 0.552 NA 14 85 1.00905e-13 1.76416e-13 0.008871 1 0 KIAA1024 23251 broad.mit.edu 37 15 79750731 79750731 + Missense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr15:79750731G>A uc002bew.1 + 2 2317 c.2242G>A c.(2242-2244)GAG>AAG p.E748K KIAA1024_uc010unk.1_Missense_Mutation_p.E748K NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 748 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 CAATGAGGAGGAGATAAAAGA 0.468 NA 12 74 0 0 0.013537 0 0 IL16 3603 broad.mit.edu 37 15 81592014 81592015 + Missense_Mutation DNP CC CC AA TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr15:81592014_81592015CC>AA uc002bgh.3 + 14 2723_2724 c.2347_2348CC>AA c.(2347-2349)CCT>AAT p.P783N IL16_uc010blq.1_Missense_Mutation_p.P737N|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P825N|IL16_uc002bgg.2_Missense_Mutation_p.P783N|IL16_uc002bgi.1_Missense_Mutation_p.P173N|IL16_uc002bgj.2_Missense_Mutation_p.P277N|IL16_uc002bgk.2_Missense_Mutation_p.P82N|IL16_uc002bgl.1_Missense_Mutation_p.P82N|IL16_uc010unq.1_Missense_Mutation_p.P82N NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 783 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GAAGAAAGGTCCTCCTGTGGCT 0.569 NA 8 83 0 0 0.004672 0 0 HDGFRP3 50810 broad.mit.edu 37 15 83826167 83826167 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr15:83826167C>A uc002bjs.1 - 4 614 c.459G>T c.(457-459)AAG>AAT p.K153N NM_016073 NP_057157 Q9Y3E1 HDGR3_HUMAN hepatoma-derived growth factor, related protein 153 cell proliferation nucleus growth factor activity 0 TCTTAGTAACCTTTGAAGTAT 0.308 NA 10 90 0.00010058 0.000118014 0.013537 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611369 84611369 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr15:84611369G>T uc002bjz.3 + 18 2363 c.2139G>T c.(2137-2139)GGG>GGT p.G713G ADAMTSL3_uc010bmt.1_Silent_p.G713G|ADAMTSL3_uc010bmu.1_Silent_p.G713G NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 713 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GCTCTTGGGGGCCCTGCTCAG 0.537 NA 12 107 6.72482e-11 1.0959e-10 0.003163 1 0 NOMO1 23420 broad.mit.edu 37 16 14982998 14982998 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr16:14982998G>T uc002dcv.2 + 29 3436 c.3370G>T c.(3370-3372)GAC>TAC p.D1124Y NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 1124 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 ATCCCAGTATGACTACATCTT 0.423 NA 44 369 3.40343e-31 7.07484e-31 0.01441 1 0 SMG1 23049 broad.mit.edu 37 16 18881188 18881188 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr16:18881188G>C uc002dfm.2 - 19 2984 c.2621C>G c.(2620-2622)TCT>TGT p.S874C SMG1_uc010bwb.2_Missense_Mutation_p.S734C NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 874 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 TGTTCTATGAGAGTTCCCATA 0.318 NA 6 41 0 0 0.00308 0 0 UMOD 7369 broad.mit.edu 37 16 20352502 20352502 + Silent SNP C C G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr16:20352502C>G uc002dgz.2 - 7 1617 c.1488G>C c.(1486-1488)CTG>CTC p.L496L UMOD_uc002dha.2_Silent_p.L496L|UMOD_uc002dhb.2_Silent_p.L529L NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 496 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 CAAATCGGGACAGGTCGCCCC 0.557 NA 4 49 0 0 0.014758 0 0 TNRC6A 27327 broad.mit.edu 37 16 24834793 24834793 + Missense_Mutation SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr16:24834793A>T uc002dmm.2 + 25 5668 c.5554A>T c.(5554-5556)AGT>TGT p.S1852C TNRC6A_uc010bxs.2_Missense_Mutation_p.S1599C|TNRC6A_uc002dmn.2_Missense_Mutation_p.S1550C|TNRC6A_uc002dmo.2_Missense_Mutation_p.S1491C|TNRC6A_uc002dmr.2_Missense_Mutation_p.S51C NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1852 Sufficient for interaction with EIF2C2.|RRM. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TGAGTTTGCCAGTGAAGAGGA 0.577 NA 30 165 0 0 0.012213 0 0 CTCF 10664 broad.mit.edu 37 16 67662413 67662413 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr16:67662413G>T uc002etl.2 + 9 1949 c.1659G>T c.(1657-1659)GCG>GCT p.A553A CTCF_uc010cek.2_Silent_p.A225A|CTCF_uc002etm.1_Silent_p.A42A NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 553 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TCGTCCCTGCGGCTTTTGTCT 0.483 Colon(175;1200 1966 6945 23069 27405) NA 22 157 1.55469e-16 2.85027e-16 0.01892 1 0 CTCF 10664 broad.mit.edu 37 16 67663408 67663408 + Silent SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr16:67663408C>T uc002etl.2 + 10 2099 c.1809C>T c.(1807-1809)CGC>CGT p.R603R CTCF_uc010cek.2_Silent_p.R275R|CTCF_uc002etm.1_Silent_p.R92R NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 603 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) GAAAGATGCGCTCTAAGAAAG 0.448 Colon(175;1200 1966 6945 23069 27405) NA 5 97 0 0 0.001168 0 0 DNAH9 1770 broad.mit.edu 37 17 11656186 11656186 + Missense_Mutation SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr17:11656186T>A uc002gne.2 + 33 6715 c.6647T>A c.(6646-6648)ATC>AAC p.I2216N DNAH9_uc010coo.2_Missense_Mutation_p.I1510N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2216 AAA 2 (By similarity). I -> T (in Ref. 4; BAA21573). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTTGCCAACATCACCCATGAT 0.413 NA 18 99 0 0 0.012319 0 0 FLOT2 2319 broad.mit.edu 37 17 27209238 27209238 + Silent SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr17:27209238C>T uc002hdc.2 - 7 720 c.597G>A c.(595-597)AAG>AAA p.K199K NM_004475 NP_004466 Q14254 FLOT2_HUMAN flotillin 2 199 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CCAGCATCTCCTTCTTGCACT 0.522 NA 20 158 0 0 0.007413 0 0 CCDC56 28958 broad.mit.edu 37 17 40948054 40948054 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr17:40948054G>A uc010wgz.1 - 3 481 c.204C>T c.(202-204)CTC>CTT p.L68L WNK4_uc002ibj.2_Intron|WNK4_uc010wgx.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank Q9Y2R0 CCD56_HUMAN SubName: Full=cDNA FLJ50764; Error:Variant_position_missing_in_Q9Y2R0_after_alignment integral to membrane 0 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0741) CGGCAGAAGTGAGTCTCGGGA 0.567 NA 14 63 0 0 0.016723 0 0 UTP18 51096 broad.mit.edu 37 17 49357467 49357467 + Splice_Site SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr17:49357467G>T uc002its.2 + 8 1162 c.1113_splice c.e8+1 p.K371_splice NM_016001 NP_057085 Q9Y5J1 UTP18_HUMAN UTP18, small subunit processome component rRNA processing nucleolus 0 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) AGCAATGAAGGTAAAGCATTA 0.413 NA 5 53 0.00116845 0.00130156 0.001168 1 0 ANAPC11 51529 broad.mit.edu 37 17 79857813 79857813 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr17:79857813G>T uc002kbv.1 + 4 342 c.127G>T c.(127-129)GAC>TAC p.D43Y ANAPC11_uc002kbw.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kbx.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kby.1_Missense_Mutation_p.R143L|ANAPC11_uc002kbz.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kca.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kcb.1_Missense_Mutation_p.D43Y|ANAPC11_uc002kcc.1_Missense_Mutation_p.D43Y|ANAPC11_uc010dih.1_Missense_Mutation_p.D43Y|NPB_uc002kcd.2_5'Flank NM_016476 NP_057560 Q9NYG5 APC11_HUMAN APC11 anaphase promoting complex subunit 11 43 RING-type. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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 zinc ion binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GCCCGGCGACGACTGCCCGCT 0.637 NA 4 30 1.23904e-05 1.52143e-05 0.014758 1 0 MC5R 4161 broad.mit.edu 37 18 13826463 13826463 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr18:13826463C>A uc010xaf.1 + 1 699 c.699C>A c.(697-699)AGC>AGA p.S233R NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 233 Cytoplasmic (Potential). ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 AGAGGACCAGCATGCAGGGCG 0.612 NA 40 181 1.69901e-12 2.8938e-12 0.005524 1 0 NETO1 81832 broad.mit.edu 37 18 70417550 70417550 + Missense_Mutation SNP C C G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr18:70417550C>G uc002lkw.2 - 9 1572 c.1288G>C c.(1288-1290)GAC>CAC p.D430H NETO1_uc002lkx.1_Missense_Mutation_p.D429H|NETO1_uc002lky.1_Missense_Mutation_p.D430H NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 430 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CAGTGATGGTCATGAATGCAT 0.493 NA 13 61 0 0 0.013537 0 0 MUC16 94025 broad.mit.edu 37 19 9046706 9046706 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr19:9046706G>T uc002mkp.2 - 5 35129 c.34925C>A c.(34924-34926)ACT>AAT p.T11642N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11644 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGCTGTACTAGTGTCTGTTGC 0.517 NA 20 107 1.28384e-07 1.72047e-07 0.012319 1 0 MUC16 94025 broad.mit.edu 37 19 9061615 9061615 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr19:9061615G>T uc002mkp.2 - 3 26035 c.25831C>A c.(25831-25833)CCT>ACT p.P8611T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8613 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGGTTTCAGGTTCTGAGCTT 0.483 NA 11 82 0.000978159 0.00109887 0.010729 1 0 MUC16 94025 broad.mit.edu 37 19 9089295 9089295 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr19:9089295G>T uc002mkp.2 - 1 2724 c.2520C>A c.(2518-2520)CTC>CTA p.L840L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 840 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGACACTTGGGAGGCTGAGAG 0.468 NA 16 143 4.35082e-09 6.48935e-09 0.010504 1 0 KEAP1 9817 broad.mit.edu 37 19 10610279 10610279 + Missense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr19:10610279G>A uc002moq.1 - 2 587 c.431C>T c.(430-432)TCC>TTC p.S144F KEAP1_uc002mor.1_Missense_Mutation_p.S144F NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 144 BTB. 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) CATGGAGATGGAGGCCGTGTA 0.587 NA 11 51 0 0 0.008291 0 0 CEACAM7 1087 broad.mit.edu 37 19 42191008 42191009 + Missense_Mutation DNP CC CC AA TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr19:42191008_42191009CC>AA uc002ori.1 - 2 210_211 c.208_209GG>TT c.(208-210)GGG>TTG p.G70L CEACAM7_uc010ehx.2_Missense_Mutation_p.G70L|CEACAM7_uc010ehy.1_Missense_Mutation_p.G70L NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 70 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CACCCTTTCCCCTTTGTACCAG 0.441 NA 18 147 0 0 0.004672 0 0 ZNF766 90321 broad.mit.edu 37 19 52794388 52794388 + Silent SNP T T C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr19:52794388T>C uc002pyr.1 + 4 1387 c.1344T>C c.(1342-1344)TTT>TTC p.F448F ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Intron NM_001010851 NP_001010851 Q5HY98 ZN766_HUMAN zinc finger protein 766 448 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) GTAAGGTCTTTAGGCACAGTT 0.413 NA 7 191 0 0 0.001984 0 0 NLRP8 126205 broad.mit.edu 37 19 56467169 56467169 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr19:56467169G>T uc002qmh.2 + 3 1816 c.1745G>T c.(1744-1746)GGT>GTT p.G582V NLRP8_uc010etg.2_Missense_Mutation_p.G582V NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 582 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTGTCTTTCGGTAATAAGAGG 0.478 NA 12 44 1.08611e-07 1.478e-07 0.010729 1 0 C2orf39 92749 broad.mit.edu 37 2 26667141 26667141 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr2:26667141G>T uc002rhg.2 + 9 1154 c.1080G>T c.(1078-1080)AAG>AAT p.K360N C2orf39_uc010eym.1_RNA NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 360 Potential. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCAAATAAAGCAGTTTCAGG 0.408 NA 11 95 0.00829132 0.00886198 0.008291 1 0 LTBP1 4052 broad.mit.edu 37 2 33488394 33488394 + Missense_Mutation SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr2:33488394T>A uc002ros.2 + 15 2555 c.2555T>A c.(2554-2556)GTT>GAT p.V852D LTBP1_uc002rot.2_Missense_Mutation_p.V526D|LTBP1_uc002rou.2_Missense_Mutation_p.V525D|LTBP1_uc002rov.2_Missense_Mutation_p.V472D|LTBP1_uc010ymz.1_Missense_Mutation_p.V525D|LTBP1_uc010yna.1_Missense_Mutation_p.V472D NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 851 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CCTGTGCCTGTTGAAGTAGCT 0.403 NA 27 203 0 0 0.010818 0 0 CCDC88A 55704 broad.mit.edu 37 2 55563913 55563913 + Silent SNP A A G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr2:55563913A>G uc002ryv.2 - 14 2402 c.1560T>C c.(1558-1560)AGT>AGC p.S520S CCDC88A_uc010yoz.1_Silent_p.S520S|CCDC88A_uc010ypa.1_Silent_p.S520S|CCDC88A_uc010ypb.1_Silent_p.S422S|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 520 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 AATTCTGAAGACTTTGCTTTT 0.318 NA 11 66 0 0 0.008291 0 0 ALMS1P 200420 broad.mit.edu 37 2 73898278 73898278 + Splice_Site SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr2:73898278G>T uc010yrl.1 + 2 307 c.-214_splice c.e2+1 NR_003683 RecName: Full=Putative ALMS1-like protein; 0 ACACAAGCAGGTAATTACTTG 0.244 NA 23 165 7.87624e-14 1.38622e-13 0.016522 1 0 SNRNP200 23020 broad.mit.edu 37 2 96954407 96954407 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr2:96954407G>A uc002svu.2 - 24 3338 c.3252C>T c.(3250-3252)GTC>GTT p.V1084V SNRNP200_uc002svw.1_Silent_p.V156V NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1084 SEC63 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TCACCTGTGTGACATACACCA 0.517 NA 12 83 0 0 0.016723 0 0 GALNT13 114805 broad.mit.edu 37 2 155306968 155306968 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr2:155306968C>A uc002tyr.3 + 13 2143 c.1576C>A c.(1576-1578)CCT>ACT p.P526T GALNT13_uc002tyt.3_3'UTR|GALNT13_uc010fod.2_3'UTR|uc002tyu.1_Intron NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 526 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TCTCGATGAACCTTCTGAAGA 0.438 NA 15 99 9.16793e-09 1.3372e-08 0.00499 1 0 SCN3A 6328 broad.mit.edu 37 2 165969467 165969467 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr2:165969467G>T uc002ucx.2 - 21 4263 c.3771C>A c.(3769-3771)CTC>CTA p.L1257L SCN3A_uc002ucy.2_Silent_p.L1208L|SCN3A_uc002ucz.2_Silent_p.L1208L|SCN3A_uc002uda.1_Silent_p.L1077L|SCN3A_uc002udb.1_Silent_p.L1077L NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1257 Helical; Name=S2 of repeat III; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CAACCCATTTGAGAAGCATTT 0.323 NA 72 395 4.98926e-31 1.02903e-30 0.01441 1 0 IHH 3549 broad.mit.edu 37 2 219922285 219922285 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr2:219922285G>A uc002vjo.1 - 2 447 c.447C>T c.(445-447)CGC>CGT p.R149R NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 149 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTCCACCGCGCGGCCCTCAT 0.617 NA 7 31 0 0 0.001984 0 0 PLCB1 23236 broad.mit.edu 37 20 8862361 8862361 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:8862361G>T uc002wnb.2 + 32 3519 c.3516G>T c.(3514-3516)AAG>AAT p.K1172N PLCB1_uc002wna.2_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1172 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TGAAAGGAAAGATCAGTGAAG 0.517 NA 42 245 1.00001e-27 2.03078e-27 0.009718 1 0 C20orf103 24141 broad.mit.edu 37 20 9496207 9496207 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:9496207C>A uc002wni.1 + 2 401 c.172C>A c.(172-174)CTC>ATC p.L58I C20orf103_uc010zrc.1_Missense_Mutation_p.L58I NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 58 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) GACGACGTGTCTCATGGCAGA 0.463 NA 22 126 7.41877e-09 1.08809e-08 0.012319 1 0 PAK7 57144 broad.mit.edu 37 20 9561009 9561009 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:9561009C>A uc002wnl.2 - 5 1318 c.773G>T c.(772-774)GGA>GTA p.G258V PAK7_uc002wnk.2_Missense_Mutation_p.G258V|PAK7_uc002wnj.2_Missense_Mutation_p.G258V|PAK7_uc010gby.1_Missense_Mutation_p.G258V NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 258 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) CAGGCTGGGTCCCCATTCACT 0.562 NA 10 106 0.00829132 0.00886198 0.008291 1 0 ANKRD5 63926 broad.mit.edu 37 20 10030593 10030593 + Missense_Mutation SNP A A G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:10030593A>G uc002wno.2 + 7 1769 c.1376A>G c.(1375-1377)TAC>TGC p.Y459C uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.Y459C|ANKRD5_uc010gbz.2_Missense_Mutation_p.Y270C NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 459 calcium ion binding ovary(1)|breast(1) 2 ATTGAGACCTACAAGAATGTC 0.463 NA 21 155 0 0 0.008871 0 0 PAX1 5075 broad.mit.edu 37 20 21695369 21695369 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:21695369C>A uc002wsj.2 + 5 1587 c.1533C>A c.(1531-1533)CCC>CCA p.P511P PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 511 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 AGGCCCAGCCCTGCCTCTGGC 0.652 NA 5 30 0.000602214 0.000679421 0.014758 1 0 EDEM2 55741 broad.mit.edu 37 20 33714148 33714148 + Missense_Mutation SNP C C A rs148170838 byFrequency TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:33714148C>A uc002xbo.2 - 8 975 c.875G>T c.(874-876)CGC>CTC p.R292L EDEM2_uc010zuv.1_Missense_Mutation_p.R251L|EDEM2_uc010zus.1_Missense_Mutation_p.R71L|EDEM2_uc002xbq.2_Missense_Mutation_p.R255L|EDEM2_uc010zut.1_Missense_Mutation_p.R251L|EDEM2_uc002xbp.2_Missense_Mutation_p.R140L|EDEM2_uc002xbn.2_Missense_Mutation_p.R140L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.R16L NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 292 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) GTCATCGAAGCGGGTGTAGTT 0.532 Esophageal Squamous(51;906 1021 24535 36410 39145) NA 19 116 8.10497e-08 1.13815e-07 0.010504 1 0 PHACTR3 116154 broad.mit.edu 37 20 58342383 58342384 + Missense_Mutation DNP CC CC AA TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:58342383_58342384CC>AA uc002yau.2 + 5 1151_1152 c.684_685CC>AA c.(682-687)CTCCCC>CTAACC p.P229T PHACTR3_uc002yat.2_Missense_Mutation_p.P226T|PHACTR3_uc010zzw.1_Missense_Mutation_p.P188T|PHACTR3_uc002yav.2_Missense_Mutation_p.P188T|PHACTR3_uc002yaw.2_Missense_Mutation_p.P188T|PHACTR3_uc002yax.2_Intron NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 229 Pro-rich. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TGGGCCAGCTCCCCAGCCCCCC 0.609 NA 9 38 0 0 0.004672 0 0 TAF4 6874 broad.mit.edu 37 20 60575248 60575248 + Nonsense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:60575248G>A uc002ybs.2 - 11 2719 c.2719C>T c.(2719-2721)CAA>TAA p.Q907* NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 907 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) AGCCTTTGTTGCGTGGCATGT 0.373 NA 19 113 0 0 0.008871 0 0 C20orf151 140893 broad.mit.edu 37 20 60990964 60990964 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:60990964C>T uc002ycw.1 - 7 581 c.424G>A c.(424-426)GAC>AAC p.D142N NM_080833 NP_543023 Q8NC74 CT151_HUMAN hypothetical protein LOC140893 142 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;6.43e-06) GAGGGGGGGTCCGAGGTGCCC 0.662 NA 3 10 0 0 0.004672 0 0 SEZ6L 23544 broad.mit.edu 37 22 26690378 26690378 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr22:26690378G>T uc003acb.2 + 3 1112 c.956G>T c.(955-957)GGG>GTG p.G319V SEZ6L_uc003acc.2_Missense_Mutation_p.G319V|SEZ6L_uc011akc.1_Missense_Mutation_p.G319V|SEZ6L_uc003acd.2_Missense_Mutation_p.G319V|SEZ6L_uc011akd.1_Missense_Mutation_p.G319V|SEZ6L_uc003ace.2_Missense_Mutation_p.G319V|SEZ6L_uc003acf.1_Missense_Mutation_p.G92V|SEZ6L_uc010gvc.1_Missense_Mutation_p.G92V NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 319 CUB 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 ACTGGCTATGGGGTGGAGCTC 0.537 NA 19 115 1.45105e-14 2.58836e-14 0.006122 1 0 SEZ6L 23544 broad.mit.edu 37 22 26769422 26769422 + Nonsense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr22:26769422C>T uc003acb.2 + 14 2956 c.2800C>T c.(2800-2802)CAA>TAA p.Q934* SEZ6L_uc003acc.2_Nonsense_Mutation_p.Q934*|SEZ6L_uc011akc.1_Intron|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Intron|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Nonsense_Mutation_p.Q707*|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_Intron NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 934 Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 TTCAGTTAATCAAGACAGTTT 0.353 NA 7 82 0 0 0.00308 0 0 EFCAB6 64800 broad.mit.edu 37 22 44028081 44028081 + Silent SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr22:44028081C>T uc003bdy.1 - 19 2351 c.2136G>A c.(2134-2136)CAG>CAA p.Q712Q EFCAB6_uc003bdz.1_Silent_p.Q560Q|EFCAB6_uc010gzi.1_Silent_p.Q560Q|EFCAB6_uc010gzj.1_Silent_p.Q10Q|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) GAGTTGGAGGCTGCGGCGGAG 0.478 NA 13 101 0 0 0.013537 0 0 WNT7B 7477 broad.mit.edu 37 22 46319087 46319087 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr22:46319087G>C uc003bgo.2 - 4 1073 c.699C>G c.(697-699)AAC>AAG p.N233K WNT7B_uc010haa.2_Missense_Mutation_p.N237K NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 233 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) GCACGGCCGCGTTGTACTTCT 0.642 NA 4 28 0 0 0.006214 0 0 NUP210 23225 broad.mit.edu 37 3 13427851 13427851 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:13427851C>A uc003bxv.1 - 6 824 c.741G>T c.(739-741)CCG>CCT p.P247P NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 247 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CGTCATAGGCCGGGTTCAGAA 0.493 NA 25 157 3.7963e-18 7.21025e-18 0.01892 1 0 ARPP21 10777 broad.mit.edu 37 3 35835224 35835224 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:35835224C>A uc003cgb.2 + 20 2477 c.2213C>A c.(2212-2214)CCC>CAC p.P738H ARPP21_uc003cga.2_Missense_Mutation_p.P719H|ARPP21_uc011axy.1_Missense_Mutation_p.P739H|ARPP21_uc003cgf.2_Missense_Mutation_p.P574H|ARPP21_uc003cgg.2_Missense_Mutation_p.P261H NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 738 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 CAAGGACTGCCCCAGCAGTCA 0.468 NA 9 67 1.12685e-05 1.39013e-05 0.004482 1 0 HHATL 57467 broad.mit.edu 37 3 42739015 42739015 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:42739015G>T uc003clw.2 - 8 997 c.850C>A c.(850-852)CCA>ACA p.P284T HHATL_uc003clx.2_Missense_Mutation_p.P284T NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 284 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) GCACTGTCTGGGAGGCGGTTG 0.617 NA 11 103 1.67942e-08 2.4096e-08 0.006122 1 0 KIF9 64147 broad.mit.edu 37 3 47288896 47288896 + Silent SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:47288896C>T uc010hjp.2 - 13 1804 c.1200G>A c.(1198-1200)CGG>CGA p.R400R KIF9_uc003cqx.2_Silent_p.R400R|KIF9_uc003cqy.2_Silent_p.R400R|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 400 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CCAGGTACCTCCGCACCTGGG 0.557 Colon(44;962 1147 15977 24541) NA 14 121 0 0 0.003163 0 0 PLXNB1 5364 broad.mit.edu 37 3 48457786 48457786 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:48457786C>A uc003csw.2 - 17 3719 c.3449G>T c.(3448-3450)CGT>CTT p.R1150L PLXNB1_uc003cst.2_5'Flank|PLXNB1_uc003csu.2_Missense_Mutation_p.R967L|PLXNB1_uc003csx.2_Missense_Mutation_p.R1150L|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'UTR NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 1150 IPT/TIG 1.|Extracellular (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGAGACACCACGTCCTCTTCC 0.667 NA 12 60 1.5842e-08 2.29796e-08 0.016723 1 0 PHF7 51533 broad.mit.edu 37 3 52455671 52455671 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:52455671C>T uc003ddy.2 + 8 1387 c.581C>T c.(580-582)GCC>GTC p.A194V PHF7_uc003ddz.2_Missense_Mutation_p.A194V NM_016483 NP_057567 Q9BWX1 PHF7_HUMAN PHD finger protein 7 isoform 1 194 RING-type; degenerate. nucleus zinc ion binding breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) CAGAAATATGCCCACACATCA 0.423 NA 4 99 0 0 0.009096 0 0 FLNB 2317 broad.mit.edu 37 3 58110122 58110122 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:58110122G>T uc003djj.2 + 22 3953 c.3788G>T c.(3787-3789)GGT>GTT p.G1263V FLNB_uc010hne.2_Missense_Mutation_p.G1263V|FLNB_uc003djk.2_Missense_Mutation_p.G1263V|FLNB_uc010hnf.2_Missense_Mutation_p.G1263V|FLNB_uc003djl.2_Missense_Mutation_p.G1094V|FLNB_uc003djm.2_Missense_Mutation_p.G1094V NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1263 Filamin 11.|Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CAGGTTGGGGGTGACCACATC 0.572 NA 19 84 5.3912e-06 6.71357e-06 0.006122 1 0 BOC 91653 broad.mit.edu 37 3 112993283 112993283 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:112993283C>A uc003dzx.2 + 9 1917 c.1296C>A c.(1294-1296)CCC>CCA p.P432P BOC_uc003dzy.2_Silent_p.P432P|BOC_uc003dzz.2_Silent_p.P432P|BOC_uc003eab.2_Silent_p.P133P NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 432 Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) CTGTATCACCCTCCAAACTCG 0.607 NA 7 75 1.06961e-07 1.478e-07 0.00308 1 0 POLQ 10721 broad.mit.edu 37 3 121207151 121207151 + Missense_Mutation SNP C C G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:121207151C>G uc003eee.3 - 16 4756 c.4627G>C c.(4627-4629)GAT>CAT p.D1543H POLQ_uc003eed.2_Missense_Mutation_p.D715H NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1543 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TGGTGGGTATCTTGATTCTCA 0.338 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 5 130 0 0 0.014758 0 0 CASR 846 broad.mit.edu 37 3 122002991 122002991 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:122002991C>A uc003eev.3 + 7 2562 c.2190C>A c.(2188-2190)CTC>CTA p.L730L CASR_uc003eew.3_Silent_p.L740L NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 730 Helical; Name=4; (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGGTTTTCCTCTGCACCTTCA 0.557 NA 8 61 0.00307968 0.00335965 0.00308 1 0 COL6A6 131873 broad.mit.edu 37 3 130285781 130285781 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:130285781C>A uc010htl.2 + 4 1549 c.1518C>A c.(1516-1518)ATC>ATA p.I506I NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 506 VWFA 3.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TTGAGAATATCAGGCAGATGG 0.473 NA 24 104 2.89027e-11 4.76894e-11 0.014323 1 0 NEK11 79858 broad.mit.edu 37 3 130881250 130881250 + Splice_Site SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:130881250A>T uc003eny.2 + 11 1289 c.963_splice c.e11-2 p.M321_splice NEK11_uc003enx.2_Splice_Site_p.M321_splice|NEK11_uc003eoa.2_Splice_Site_p.M321_splice|NEK11_uc003enz.2_Splice_Site_p.M139_splice|NEK11_uc010htn.2_Splice_Site|NEK11_uc011blk.1_Splice_Site_p.M173_splice|NEK11_uc011bll.1_Splice_Site_p.W216_splice|NEK11_uc011blm.1_Splice_Site_p.M321_splice NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity large_intestine(4)|stomach(1)|central_nervous_system(1) 6 TGTTATTTATAGGCAAAAAAG 0.413 NA 63 359 0 0 0.01441 0 0 GK5 256356 broad.mit.edu 37 3 141900397 141900397 + Silent SNP T T C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:141900397T>C uc003euq.1 - 11 1085 c.954A>G c.(952-954)CCA>CCG p.P318P GK5_uc003eup.1_Silent_p.P39P|GK5_uc010hus.1_RNA NM_001039547 NP_001034636 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) 318 glycerol metabolic process ATP binding|glycerol kinase activity 0 ACCCAATTAATGGATAAAAGC 0.363 NA 12 89 0 0 0.010729 0 0 SLC9A9 285195 broad.mit.edu 37 3 142985602 142985602 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:142985602C>A uc003evn.2 - 16 2062 c.1880G>T c.(1879-1881)GGC>GTC p.G627V NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 627 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 GCCTCCCAGGCCGAGGTCTCC 0.498 NA 25 127 9.04412e-07 1.15905e-06 0.004656 1 0 SERPINI2 5276 broad.mit.edu 37 3 167164213 167164213 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:167164213G>T uc003fer.1 - 7 1166 c.1108C>A c.(1108-1110)CCA>ACA p.P370T SERPINI2_uc003fes.1_Missense_Mutation_p.P380T|SERPINI2_uc003fet.1_Missense_Mutation_p.P370T NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 370 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 AACAGAAATGGATGATTTGCT 0.333 NA 18 182 3.32936e-07 4.41684e-07 0.006122 1 0 MECOM 2122 broad.mit.edu 37 3 168812877 168812877 + Missense_Mutation SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:168812877A>T uc003ffi.3 - 12 2711 c.2442T>A c.(2440-2442)AAT>AAA p.N814K MECOM_uc010hwk.1_Missense_Mutation_p.N828K|MECOM_uc003ffj.3_Missense_Mutation_p.N879K|MECOM_uc011bpi.1_Missense_Mutation_p.N806K|MECOM_uc003ffn.3_Missense_Mutation_p.N814K|MECOM_uc003ffk.2_Missense_Mutation_p.N805K|MECOM_uc003ffl.2_Missense_Mutation_p.N965K|MECOM_uc011bpj.1_Missense_Mutation_p.N1002K|MECOM_uc011bpk.1_Missense_Mutation_p.N804K NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 814 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 ACATGTTCCCATTCTCATGTT 0.323 NA 12 88 0 0 0.016723 0 0 BEND4 389206 broad.mit.edu 37 4 42127651 42127651 + Silent SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr4:42127651C>T uc003gwn.2 - 4 1675 c.1095G>A c.(1093-1095)CTG>CTA p.L365L BEND4_uc003gwm.2_Silent_p.L365L|BEND4_uc011byy.1_Silent_p.L365L NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 365 0 TGTGGTGCTGCAGAACCATCT 0.443 NA 5 31 0 0 0.014758 0 0 CSN2 1447 broad.mit.edu 37 4 70823356 70823356 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr4:70823356G>C uc003hes.3 - 5 324 c.311C>G c.(310-312)GCT>GGT p.A104G CSN2_uc003het.3_Missense_Mutation_p.A103G NM_001891 NP_001882 P05814 CASB_HUMAN casein beta precursor 104 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity 0 AGTGTCTTTAGCTTTAGGGAC 0.463 NA 16 123 0 0 0.007413 0 0 NPNT 255743 broad.mit.edu 37 4 106863785 106863785 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr4:106863785G>C uc003hya.2 + 8 1290 c.1085G>C c.(1084-1086)AGT>ACT p.S362T NPNT_uc011cfc.1_Missense_Mutation_p.S379T|NPNT_uc011cfd.1_Missense_Mutation_p.S392T|NPNT_uc011cfe.1_Missense_Mutation_p.S392T|NPNT_uc010ilt.1_Missense_Mutation_p.S362T|NPNT_uc011cff.1_Missense_Mutation_p.S362T|NPNT_uc010ilu.1_Missense_Mutation_p.S258T NM_001033047 NP_001028219 Q6UXI9 NPNT_HUMAN nephronectin precursor 362 Pro-rich. cell differentiation membrane calcium ion binding skin(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CCAGCTGCCAGTACACCTCCA 0.512 NA 7 92 0 0 0.006214 0 0 FAT4 79633 broad.mit.edu 37 4 126240206 126240206 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr4:126240206C>A uc003ifj.3 + 1 2640 c.2640C>A c.(2638-2640)AAC>AAA p.N880K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 880 Extracellular (Potential).|Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTATGGTTAACATAACAGTTA 0.448 NA 12 67 5.50884e-06 6.82785e-06 0.013537 1 0 RNF150 57484 broad.mit.edu 37 4 141888839 141888839 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr4:141888839C>A uc003iio.1 - 2 1327 c.673G>T c.(673-675)GCA>TCA p.A225S RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Missense_Mutation_p.A225S NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 225 Helical; (Potential). integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) ACGAGCCATGCGAGGGAAATG 0.423 NA 19 119 1.33834e-09 2.03058e-09 0.007413 1 0 TTC29 83894 broad.mit.edu 37 4 147796051 147796051 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr4:147796051C>T uc003ikw.3 - 7 843 c.616G>A c.(616-618)GAA>AAA p.E206K TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.E232K|TTC29_uc010ipd.1_Missense_Mutation_p.E206K NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 206 TPR 1. binding 0 all_hematologic(180;0.151) TGGAATGCTTCATAATGCTCA 0.448 NA 6 38 0 0 0.008291 0 0 IRF2 3660 broad.mit.edu 37 4 185310048 185310048 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr4:185310048C>A uc003iwf.3 - 9 1114 c.914G>T c.(913-915)TGG>TTG p.W305L NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 305 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) AAAAGGGGGCCAGGAGCTGTT 0.592 NA 19 120 5.35267e-07 6.99556e-07 0.007413 1 0 SDHAP3 728609 broad.mit.edu 37 5 1593386 1593386 + Missense_Mutation SNP A A C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:1593386A>C uc010itg.1 - 2 151 c.74T>G c.(73-75)GTG>GGG p.V25G SDHAP3_uc011cme.1_RNA Homo sapiens cDNA clone IMAGE:40127561. 0 CTGGCCATTCACGTGCCTCAG 0.597 NA 3 67 0 0 0.014758 0 0 PRLR 5618 broad.mit.edu 37 5 35072726 35072726 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:35072726G>T uc003jjm.2 - 6 1024 c.494C>A c.(493-495)ACG>AAG p.T165K PRLR_uc003jjg.1_Missense_Mutation_p.T165K|PRLR_uc003jjh.1_Missense_Mutation_p.T165K|PRLR_uc003jji.1_Missense_Mutation_p.T94K|PRLR_uc003jjj.1_Missense_Mutation_p.T165K|PRLR_uc003jjk.1_Missense_Mutation_p.T94K|PRLR_uc003jjl.3_Missense_Mutation_p.T64K|PRLR_uc010iuw.1_Missense_Mutation_p.T94K NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 165 Fibronectin type-III 2.|Extracellular (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATACAGGAGCGTGAACCAACC 0.448 NA 19 168 4.63292e-17 8.67441e-17 0.008871 1 0 ANKRD55 79722 broad.mit.edu 37 5 55412488 55412488 + Missense_Mutation SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:55412488A>T uc003jqu.2 - 9 1071 c.919T>A c.(919-921)TAC>AAC p.Y307N ANKRD55_uc003jqt.2_Missense_Mutation_p.Y19N NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 306 ANK 9. skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TGACCGCAGTACAGGGCATAG 0.507 NA 25 133 0 0 0.00632 0 0 ANKRD55 79722 broad.mit.edu 37 5 55439661 55439661 + Missense_Mutation SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:55439661T>A uc003jqu.2 - 7 731 c.579A>T c.(577-579)AAA>AAT p.K193N NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 192 skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TTTTAAAGTCTTTATCCACAA 0.502 NA 50 301 0 0 0.01441 0 0 IQGAP2 10788 broad.mit.edu 37 5 75989204 75989204 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:75989204G>T uc003kek.2 + 31 4152 c.3930G>T c.(3928-3930)GTG>GTT p.V1310V IQGAP2_uc011csv.1_Silent_p.V806V|IQGAP2_uc003kel.2_Silent_p.V806V|IQGAP2_uc010izw.1_Silent_p.V11V NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1310 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TAATTGATGTGATCCGGAACC 0.398 NA 7 40 2.0095e-06 2.53831e-06 0.001984 1 0 RASA1 5921 broad.mit.edu 37 5 86672763 86672763 + Silent SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:86672763A>T uc003kiw.2 + 17 2368 c.2250A>T c.(2248-2250)ACA>ACT p.T750T RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.T573T|RASA1_uc011ctv.1_Silent_p.T583T|RASA1_uc011ctw.1_Silent_p.T584T|RASA1_uc010jaw.2_Silent_p.T572T NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 750 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) AAGACCGAACACTACTGGCCA 0.368 NA 22 137 0 0 0.016522 0 0 C5orf56 441108 broad.mit.edu 37 5 131822192 131822192 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:131822192G>C uc010jds.1 + 4 528 c.353G>C c.(352-354)AGA>ACA p.R118T IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron Q8N8D9 CE056_HUMAN Homo sapiens full length insert cDNA clone ZA99C08. Error:Variant_position_missing_in_Q8N8D9_after_alignment 0 ATGCCTCCAAGAGAAAGAGTC 0.582 NA 7 20 0 0 0.001984 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719632 140719632 + Missense_Mutation SNP T T C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:140719632T>C uc003ljk.1 + 1 1279 c.1094T>C c.(1093-1095)ATA>ACA p.I365T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.I365T NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 365 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGAACCATAATTGGGCTT 0.428 NA 27 179 0 0 0.00632 0 0 PCDH12 51294 broad.mit.edu 37 5 141325354 141325354 + Silent SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:141325354C>T uc003llx.2 - 4 4358 c.3147G>A c.(3145-3147)CGG>CGA p.R1049R NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 1049 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCGCTCAGCCGGTCCAGGG 0.677 NA 3 61 0 0 0.004672 0 0 CSF1R 1436 broad.mit.edu 37 5 149449602 149449602 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:149449602C>A uc003lrl.2 - 9 1539 c.1344G>T c.(1342-1344)CAG>CAT p.Q448H CSF1R_uc011dcd.1_Missense_Mutation_p.Q300H|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.Q448H NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 448 Ig-like C2-type 5.|Extracellular (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CATCCCAGACCTGCAGCACTT 0.587 NA 12 69 1.05317e-09 1.60715e-09 0.020292 1 0 SLC36A3 285641 broad.mit.edu 37 5 150656993 150656993 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr5:150656993G>T uc003ltw.2 - 10 1793 c.1374C>A c.(1372-1374)ATC>ATA p.I458I GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.I443I|SLC36A3_uc003ltx.2_Silent_p.I499I NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 458 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGAATGGCTGATGGGTTGGG 0.478 NA 20 203 8.34094e-07 1.07415e-06 0.008871 1 0 RIPK1 8737 broad.mit.edu 37 6 3105762 3105762 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:3105762G>T uc010jni.2 + 9 1285 c.1053G>T c.(1051-1053)ATG>ATT p.M351I RIPK1_uc003muv.3_Missense_Mutation_p.M188I|RIPK1_uc003muw.3_Missense_Mutation_p.M286I|RIPK1_uc011dhs.1_Missense_Mutation_p.M305I|RIPK1_uc003mux.2_Missense_Mutation_p.M351I NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 351 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) GACTTGGGATGGGTCCTGTGG 0.493 NA 37 306 2.04263e-09 3.08146e-09 0.019004 1 0 ALDH5A1 7915 broad.mit.edu 37 6 24503644 24503644 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:24503644G>C uc003neg.2 + 3 620 c.592G>C c.(592-594)GCT>CCT p.A198P ALDH5A1_uc003nef.2_Missense_Mutation_p.A198P NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 198 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) CATAGGCGTGGCTGCAGTCAT 0.567 NA 6 54 0 0 0.001984 0 0 ZNF165 7718 broad.mit.edu 37 6 28056964 28056964 + Nonsense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:28056964C>T uc003nkg.2 + 5 2258 c.1174C>T c.(1174-1176)CGA>TGA p.R392* ZNF165_uc003nkh.2_Nonsense_Mutation_p.R392*|ZNF165_uc003nki.3_Nonsense_Mutation_p.R392*|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 392 C2H2-type 3. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TAGACATCGGCGAATTCACAC 0.448 NA 5 93 0 0 0.001168 0 0 OR12D2 26529 broad.mit.edu 37 6 29364990 29364990 + Missense_Mutation SNP A A C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:29364990A>C uc003nmf.3 + 1 575 c.514A>C c.(514-516)ATC>CTC p.I172L NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTCCAACCGTATCCATCATTT 0.478 NA 13 244 0 0 0.00499 0 0 TNXB 7148 broad.mit.edu 37 6 32052275 32052275 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:32052275C>A uc003nzl.2 - 8 3562 c.3360G>T c.(3358-3360)CTG>CTT p.L1120L NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1207 Fibronectin type-III 4. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GGCCAGGATCCAGGGAGGTGA 0.582 NA 6 28 0.00116845 0.00130156 0.001168 1 0 NOTCH4 4855 broad.mit.edu 37 6 32187987 32187987 + Missense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:32187987G>A uc003obb.2 - 7 1373 c.1234C>T c.(1234-1236)CTC>TTC p.L412F NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.L412F NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 412 EGF-like 10.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GAGCCTGTGAGGGGGTTGGTG 0.627 NA 5 62 0 0 0.006214 0 0 CUL9 23113 broad.mit.edu 37 6 43152465 43152465 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:43152465G>A uc003ouk.2 + 2 492 c.417G>A c.(415-417)ACG>ACA p.T139T CUL9_uc003ouj.1_Silent_p.T139T|CUL9_uc003oul.2_Silent_p.T139T|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 139 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CAAGCCTCACGGCCGCTGTGC 0.637 NA 4 61 0 0 0.016723 0 0 RARS2 57038 broad.mit.edu 37 6 88228554 88228554 + Silent SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:88228554T>A uc003pme.2 - 15 1353 c.1293A>T c.(1291-1293)GCA>GCT p.A431A RARS2_uc003pmb.2_Silent_p.A256A|RARS2_uc003pmc.2_Silent_p.A256A|RARS2_uc003pmd.2_Silent_p.A68A|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 431 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) GAATAATGAGTGCTGCGAGCC 0.463 NA 9 71 0 0 0.006214 0 0 GABRR1 2569 broad.mit.edu 37 6 89891759 89891759 + Missense_Mutation SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:89891759A>T uc003pna.2 - 8 1269 c.814T>A c.(814-816)TAC>AAC p.Y272N GABRR1_uc011dzv.1_Missense_Mutation_p.Y249N NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 272 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AAATTAATGTAGAGACGGTTG 0.448 NA 8 85 0 0 0.006214 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111913163 111913163 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:111913163C>A uc011ebc.1 - 3 742 c.127G>T c.(127-129)GCA>TCA p.A43S TRAF3IP2_uc003pvg.2_Missense_Mutation_p.A43S|TRAF3IP2_uc003pvf.2_Missense_Mutation_p.A43S|TRAF3IP2_uc010kdw.2_Missense_Mutation_p.A43S|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.A43S NM_147686 NP_679211 O43734 CIKS_HUMAN TRAF3 interacting protein 2 isoform 2 52 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular ovary(2)|central_nervous_system(1) 3 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) CTGTTGGGTGCCATGTTCCTT 0.478 NA 21 146 1.96292e-10 3.12176e-10 0.010504 1 0 IFNGR1 3459 broad.mit.edu 37 6 137519214 137519214 + Missense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:137519214G>A uc003qho.2 - 7 1527 c.1424C>T c.(1423-1425)TCC>TTC p.S475F IFNGR1_uc011edm.1_Missense_Mutation_p.S447F NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 475 Cytoplasmic (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) ACCAATCAAGGACTCTTTACC 0.413 NA 17 173 0 0 0.00499 0 0 SYNE1 23345 broad.mit.edu 37 6 152949423 152949423 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:152949423G>T uc010kiw.2 - 3 646 c.44C>A c.(43-45)GCC>GAC p.A15D SYNE1_uc003qot.3_Missense_Mutation_p.A15D|SYNE1_uc003qou.3_Missense_Mutation_p.A15D|SYNE1_uc010kjb.1_Missense_Mutation_p.A15D|SYNE1_uc003qpa.1_Missense_Mutation_p.A15D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 15 Actin-binding.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CATCACATTGGCGATATCCCG 0.498 NA HNSCC(10;0.0054) 33 225 5.8336e-16 1.06212e-15 0.015359 1 0 SNX9 51429 broad.mit.edu 37 6 158317937 158317937 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:158317937G>C uc003qqv.1 + 5 552 c.379G>C c.(379-381)GCC>CCC p.A127P NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 127 cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) AGGCTGGGGGGCCCAGCCAGA 0.587 NA 20 186 0 0 0.01892 0 0 SOD2 6648 broad.mit.edu 37 6 160103667 160103667 + Missense_Mutation SNP A A C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr6:160103667A>C uc003qsg.2 - 5 681 c.527T>G c.(526-528)CTT>CGT p.L176R SOD2_uc003qsf.3_5'Flank|SOD2_uc003qsh.2_Missense_Mutation_p.L137R|SOD2_uc003qsi.1_Missense_Mutation_p.L176R|SOD2_uc011efu.1_Missense_Mutation_p.L116R|SOD2_uc011efv.1_Missense_Mutation_p.L137R NM_001024465 NP_001019636 P04179 SODM_HUMAN manganese superoxide dismutase isoform A 176 age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure manganese ion binding|superoxide dismutase activity 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) CAGTGGAATAAGGCCTGTTAG 0.368 NA 5 62 0 0 0.014758 0 0 SLC29A4 222962 broad.mit.edu 37 7 5338634 5338634 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:5338634G>T uc003sod.2 + 8 1059 c.898G>T c.(898-900)GCC>TCC p.A300S SLC29A4_uc011jwg.1_RNA|SLC29A4_uc003soc.2_Missense_Mutation_p.A300S|SLC29A4_uc003soe.2_Missense_Mutation_p.A286S|SLC29A4_uc010ksw.2_RNA NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN solute carrier family 29 (nucleoside 300 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity liver(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) CCCAGCCCCGGCCCTGGCCCC 0.672 NA 3 24 0.00024832 0.000286273 0.009096 1 0 CRHR2 1395 broad.mit.edu 37 7 30693085 30693085 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:30693085G>A uc003tbn.2 - 12 1471 c.1227C>T c.(1225-1227)GCC>GCT p.A409A CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Silent_p.A408A|CRHR2_uc010kvy.1_Silent_p.A245A|CRHR2_uc003tbo.2_Silent_p.A395A|CRHR2_uc003tbp.2_Silent_p.A436A NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 409 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 GTCACACAGCGGCCGTCTGCT 0.642 NA 22 117 0 0 0.01892 0 0 RALA 5898 broad.mit.edu 37 7 39730128 39730128 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:39730128G>T uc003thd.2 + 3 562 c.262G>T c.(262-264)GGG>TGG p.G88W NM_005402 NP_005393 P11233 RALA_HUMAN ras related v-ral simian leukemia viral oncogene 88 actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis cell surface|cleavage furrow|cytosol|midbody|plasma membrane Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity lung(1)|skin(1) 2 AAGTGGGGAGGGGTTCCTCTG 0.458 NA 16 85 1.15088e-07 1.55016e-07 0.004007 1 0 GRB10 2887 broad.mit.edu 37 7 50742267 50742267 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:50742267C>A uc003tpi.2 - 3 259 c.228G>T c.(226-228)ACG>ACT p.T76T GRB10_uc003tph.3_Silent_p.T18T|GRB10_uc003tpj.2_Silent_p.T76T|GRB10_uc003tpk.2_Silent_p.T76T|GRB10_uc010kzb.2_Silent_p.T18T|GRB10_uc003tpl.2_Silent_p.T70T|GRB10_uc003tpm.2_Silent_p.T18T|GRB10_uc003tpn.2_Silent_p.T18T NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 76 insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) GGAGGGGCACCGTGTCTGACT 0.622 NA Russell-Silver_syndrome 3 49 6.4e-05 7.61081e-05 0.004672 1 0 CACNA2D1 781 broad.mit.edu 37 7 81662148 81662148 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:81662148G>T uc003uhr.1 - 12 1364 c.1108C>A c.(1108-1110)CAG>AAG p.Q370K NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 370 Extracellular (Potential).|VWFA. voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AATATCTCCTGGGCTCTCTCT 0.279 NA 12 94 7.93312e-07 1.02664e-06 0.020292 1 0 ABCB4 5244 broad.mit.edu 37 7 87031499 87031499 + Missense_Mutation SNP C C G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:87031499C>G uc003uiv.1 - 28 3850 c.3774G>C c.(3772-3774)AAG>AAC p.K1258N ABCB4_uc003uiw.1_Missense_Mutation_p.K1251N|ABCB4_uc003uix.1_Missense_Mutation_p.K1204N NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1258 ABC transporter 2.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TGCCATGCTCCTTGACTCTCC 0.498 NA 15 145 0 0 0.004007 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761347 92761347 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:92761347C>T uc003umh.1 - 5 5154 c.3938G>A c.(3937-3939)TGT>TAT p.C1313Y SAMD9L_uc003umj.1_Missense_Mutation_p.C1313Y|SAMD9L_uc003umi.1_Missense_Mutation_p.C1313Y|SAMD9L_uc010lfb.1_Missense_Mutation_p.C1313Y|SAMD9L_uc003umk.1_Missense_Mutation_p.C1313Y|SAMD9L_uc010lfc.1_Missense_Mutation_p.C1313Y|SAMD9L_uc010lfd.1_Missense_Mutation_p.C1313Y|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1313 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) TTGTAATAGACATGGATCCAA 0.378 NA 6 236 0 0 0.001168 0 0 NRCAM 4897 broad.mit.edu 37 7 107808728 107808728 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:107808728C>A uc003vfb.2 - 29 3778 c.3307G>T c.(3307-3309)GCA>TCA p.A1103S NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Intron|NRCAM_uc003vfd.2_Intron|NRCAM_uc003vfe.2_Intron|NRCAM_uc011kmj.1_Intron NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 1103 Fibronectin type-III 5.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 TTACTGCCTGCTACACCATAT 0.363 NA 9 73 3.09899e-07 4.13198e-07 0.004482 1 0 CFTR 1080 broad.mit.edu 37 7 117232483 117232483 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:117232483G>A uc003vjd.2 + 14 2394 c.2262G>A c.(2260-2262)GTG>GTA p.V754V CFTR_uc011knq.1_Silent_p.V160V NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 754 Cytoplasmic (Potential). V -> M (in CF). 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) GCATCAGCGTGATCAGCACTG 0.517 NA Cystic_Fibrosis 8 34 0 0 0.00308 0 0 KEL 3792 broad.mit.edu 37 7 142641424 142641424 + Missense_Mutation SNP G G T rs61729050 TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:142641424G>T uc003wcb.2 - 13 1687 c.1477C>A c.(1477-1479)CAA>AAA p.Q493K NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 493 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) TTGTATTCTTGTCGGGCCAGC 0.522 NA 11 98 1.08611e-07 1.478e-07 0.010729 1 0 OR2A5 393046 broad.mit.edu 37 7 143748277 143748277 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:143748277C>A uc011ktw.1 + 1 783 c.783C>A c.(781-783)GCC>GCA p.A261A NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) TGTACATGGCCCCCAAGTCCC 0.572 NA 14 127 7.07596e-05 8.37692e-05 0.006122 1 0 ZNF777 27153 broad.mit.edu 37 7 149153030 149153030 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:149153030G>A uc003wfv.2 - 2 247 c.84C>T c.(82-84)CCC>CCT p.P28P NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GAGTTTCTCGGGGGAGTCCAG 0.547 NA 16 99 0 0 0.004007 0 0 PTPRN2 5799 broad.mit.edu 37 7 157475536 157475536 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr7:157475536C>A uc003wno.2 - 13 2003 c.1882G>T c.(1882-1884)GGC>TGC p.G628C PTPRN2_uc003wnp.2_Missense_Mutation_p.G611C|PTPRN2_uc003wnq.2_Missense_Mutation_p.G599C|PTPRN2_uc003wnr.2_Missense_Mutation_p.G590C|PTPRN2_uc011kwa.1_Missense_Mutation_p.G651C NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 628 Helical; (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGGAGGACGCCCAGGATGCAG 0.607 NA 8 87 0.000442599 0.000503648 0.006214 1 0 FZD3 7976 broad.mit.edu 37 8 28385432 28385432 + Silent SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:28385432T>A uc003xgx.2 + 5 1633 c.1155T>A c.(1153-1155)GTT>GTA p.V385V FZD3_uc010lvb.2_Silent_p.V385V NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 385 Helical; Name=5; (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) ATGTGGTAGTTGGGGTTTCTC 0.398 NA 31 168 0 0 0.012213 0 0 KIF13B 23303 broad.mit.edu 37 8 29035078 29035078 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:29035078C>A uc003xhh.3 - 9 797 c.738G>T c.(736-738)GTG>GTT p.V246V KIF13B_uc003xhj.2_Silent_p.V143V|KIF13B_uc010lvf.1_Silent_p.V182V NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 246 Kinesin-motor. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TGAGTTTGCCCACTTTCTCTC 0.378 NA 16 148 1.67942e-08 2.4096e-08 0.006122 1 0 UNC5D 137970 broad.mit.edu 37 8 35608274 35608274 + Missense_Mutation SNP C C G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:35608274C>G uc003xjr.1 + 13 2438 c.2110C>G c.(2110-2112)CTG>GTG p.L704V UNC5D_uc003xjs.1_Missense_Mutation_p.L699V|UNC5D_uc003xju.1_Missense_Mutation_p.L280V NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 704 Cytoplasmic (Potential).|Interaction with DCC (By similarity). 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) CTGTAACTCCCTGGATTACAA 0.458 NA 41 228 0 0 0.010771 0 0 IKBKB 3551 broad.mit.edu 37 8 42178306 42178306 + Silent SNP T T C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:42178306T>C uc003xow.1 + 16 1809 c.1632T>C c.(1630-1632)ATT>ATC p.I544I IKBKB_uc010lxh.1_3'UTR|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.I321I|IKBKB_uc003xox.1_Silent_p.I265I|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.I542I|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.I485I NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 544 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) AGACCGACATTGTGGACTTAC 0.572 NA 4 93 0 0 0.009096 0 0 SLC20A2 6575 broad.mit.edu 37 8 42287590 42287590 + Silent SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:42287590C>A uc010lxl.2 - 9 2395 c.1701G>T c.(1699-1701)ACG>ACT p.T567T SLC20A2_uc010lxm.2_Silent_p.T567T|SLC20A2_uc003xpe.2_Silent_p.T567T|SLC20A2_uc011lcu.1_Silent_p.T369T NM_006749 NP_006740 Q08357 S20A2_HUMAN solute carrier family 20, member 2 567 Cytoplasmic (Potential). interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity ovary(2) 2 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) ACCTGGACGGCGTGATGGGAG 0.607 NA 7 46 1.06961e-07 1.478e-07 0.00308 1 0 PDE7A 5150 broad.mit.edu 37 8 66635829 66635829 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:66635829C>A uc003xvq.2 - 12 1202 c.1190G>T c.(1189-1191)GGT>GTT p.G397V PDE7A_uc003xvr.2_Missense_Mutation_p.G397V|PDE7A_uc003xvp.2_Missense_Mutation_p.G371V NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 397 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) TGGACTCACACCCAAATGATA 0.294 NA 6 70 0.00307968 0.00335965 0.00308 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618186 77618186 + Silent SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:77618186G>T uc003yav.2 + 2 2250 c.1863G>T c.(1861-1863)GTG>GTT p.V621V ZFHX4_uc003yat.1_Silent_p.V621V|ZFHX4_uc003yau.1_Silent_p.V621V|ZFHX4_uc003yaw.1_Silent_p.V621V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 621 C2H2-type 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCGACACTGTGTTGGGGTCTT 0.532 NA HNSCC(33;0.089) 13 72 0.000151284 0.000175943 0.016723 1 0 ZFHX4 79776 broad.mit.edu 37 8 77690667 77690667 + Missense_Mutation SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:77690667A>T uc003yav.2 + 4 3626 c.3239A>T c.(3238-3240)AAT>ATT p.N1080I ZFHX4_uc003yau.1_Missense_Mutation_p.N1106I|ZFHX4_uc003yaw.1_Missense_Mutation_p.N1080I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1080 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCCCACCAAATGAGCTTGGT 0.453 NA HNSCC(33;0.089) 17 121 0 0 0.004007 0 0 UBR5 51366 broad.mit.edu 37 8 103266711 103266711 + Missense_Mutation SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:103266711G>A uc003ykr.1 - 59 8252 c.8219C>T c.(8218-8220)CCA>CTA p.P2740L UBR5_uc003yks.1_Missense_Mutation_p.P2739L|UBR5_uc003ykq.2_Missense_Mutation_p.P251L NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2740 Pro-rich.|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) TTCACTGGCTGGCAGTGATGG 0.408 Ovarian(131;96 1741 5634 7352 27489) NA 11 73 0 0 0.008291 0 0 PHF20L1 51105 broad.mit.edu 37 8 133823374 133823374 + Splice_Site SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:133823374G>T uc003ytt.2 + 9 1255 c.930_splice c.e9+1 p.Q310_splice PHF20L1_uc003ytr.2_Missense_Mutation_p.V285L|PHF20L1_uc010mdv.2_Missense_Mutation_p.V285L|PHF20L1_uc003yts.2_Splice_Site_p.Q310_splice|PHF20L1_uc011lja.1_Splice_Site_p.Q284_splice|PHF20L1_uc003ytu.1_Splice_Site|PHF20L1_uc003ytv.2_Missense_Mutation_p.V150L NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GCTGGAGCAGGTATGAAATGG 0.403 NA 14 105 4.3838e-07 5.75783e-07 0.016723 1 0 COL22A1 169044 broad.mit.edu 37 8 139737684 139737684 + Splice_Site SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:139737684C>A uc003yvd.2 - 24 2587 c.2140_splice c.e24-1 p.G714_splice COL22A1_uc011ljo.1_Splice_Site_p.G14_splice NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTGGAGGGCCCTGTAGAGAAA 0.572 NA HNSCC(7;0.00092) 21 111 3.7963e-18 7.21025e-18 0.01892 1 0 PYCRL 65263 broad.mit.edu 37 8 144689140 144689140 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:144689140G>A uc003yyy.2 - 3 365 c.355C>T c.(355-357)CTG>TTG p.L119L PYCRL_uc011lkm.1_Silent_p.L119L|PYCRL_uc011lkn.1_RNA NM_023078 NP_075566 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 107 proline biosynthetic process pyrroline-5-carboxylate reductase activity 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) AGGGTGCTCAGAGACACCCCA 0.632 NA 9 65 0 0 0.004482 0 0 PLEC 5339 broad.mit.edu 37 8 145001143 145001143 + Splice_Site SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:145001143A>T uc003zaf.1 - 29 4526 c.4356_splice c.e29+1 p.E1452_splice PLEC_uc003zab.1_Splice_Site_p.E1315_splice|PLEC_uc003zac.1_Splice_Site_p.E1319_splice|PLEC_uc003zad.2_Splice_Site_p.E1315_splice|PLEC_uc003zae.1_Splice_Site_p.E1283_splice|PLEC_uc003zag.1_Splice_Site_p.E1293_splice|PLEC_uc003zah.2_Splice_Site_p.E1301_splice|PLEC_uc003zaj.2_Splice_Site_p.E1342_splice NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCCCACCCTACCTCCTGGAT 0.637 NA 3 51 0 0 0.004672 0 0 PLEC 5339 broad.mit.edu 37 8 145001150 145001150 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:145001150G>T uc003zaf.1 - 29 4521 c.4351C>A c.(4351-4353)CAG>AAG p.Q1451K PLEC_uc003zab.1_Missense_Mutation_p.Q1314K|PLEC_uc003zac.1_Missense_Mutation_p.Q1318K|PLEC_uc003zad.2_Missense_Mutation_p.Q1314K|PLEC_uc003zae.1_Missense_Mutation_p.Q1282K|PLEC_uc003zag.1_Missense_Mutation_p.Q1292K|PLEC_uc003zah.2_Missense_Mutation_p.Q1300K|PLEC_uc003zaj.2_Missense_Mutation_p.Q1341K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1451 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCTACCTCCTGGATGACACTC 0.632 NA 3 53 6.4e-05 7.61081e-05 0.004672 1 0 ZNF251 90987 broad.mit.edu 37 8 145948533 145948533 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:145948533C>A uc003zdv.3 - 5 768 c.512G>T c.(511-513)GGC>GTC p.G171V NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCTTTCCCTGCCCACGGTAGC 0.433 NA 31 172 3.86903e-22 7.67988e-22 0.013726 1 0 GLIPR2 152007 broad.mit.edu 37 9 36162380 36162380 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr9:36162380G>T uc003zyz.2 + 5 360 c.326G>T c.(325-327)TGG>TTG p.W109L GLIPR2_uc010mlf.1_3'UTR|GLIPR2_uc003zza.2_RNA|GLIPR2_uc003zyy.1_Intron NM_022343 NP_071738 Q9H4G4 GAPR1_HUMAN GLI pathogenesis-related 2 109 TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019). extracellular region|Golgi membrane skin(3)|central_nervous_system(1) 4 GCCATGGTATGGAAGAACACC 0.567 NA 21 121 1.50039e-11 2.50698e-11 0.012319 1 0 S1PR3 1903 broad.mit.edu 37 9 91617197 91617197 + Nonsense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr9:91617197C>A uc004aqe.2 + 2 1478 c.1082C>A c.(1081-1083)TCA>TAA p.S361* NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 361 Cytoplasmic (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 ACAGCCCCCTCATCCTGCATC 0.537 NA 7 32 0.00307968 0.00335965 0.00308 1 0 ACTL7B 10880 broad.mit.edu 37 9 111618088 111618088 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr9:111618088C>T uc004bdi.2 - 1 188 c.123G>A c.(121-123)ATG>ATA p.M41I NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 41 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 TCCTGGGCTTCATCTTGAGCT 0.657 NA 18 107 0 0 0.007413 0 0 TNC 3371 broad.mit.edu 37 9 117803262 117803262 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr9:117803262C>T uc004bjj.3 - 19 5712 c.5350G>A c.(5350-5352)GGC>AGC p.G1784S TNC_uc010mvf.2_Missense_Mutation_p.G1511S NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1784 Fibronectin type-III 13. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TCCTCAAAGCCCTTCATGGCG 0.502 NA 39 118 0 0 0.006999 0 0 CEP110 11064 broad.mit.edu 37 9 123920082 123920082 + Nonsense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr9:123920082G>T uc004bkx.1 + 27 4592 c.4561G>T c.(4561-4563)GAA>TAA p.E1521* CEP110_uc004bla.1_Nonsense_Mutation_p.E969*|CEP110_uc010mvo.1_Nonsense_Mutation_p.E190*|CEP110_uc004blb.1_Nonsense_Mutation_p.E190*|CEP110_uc010mvp.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1521 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 AATCTTGAAAGAAATAAACAA 0.408 NA 21 112 1.01871e-10 1.63988e-10 0.008871 1 0 LCN2 3934 broad.mit.edu 37 9 130911883 130911883 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr9:130911883C>A uc004bto.1 + 1 152 c.79C>A c.(79-81)CTG>ATG p.L27M LCN2_uc010mxq.1_Missense_Mutation_p.L27M|LCN2_uc011map.1_Missense_Mutation_p.L27M NM_005564 NP_005555 P80188 NGAL_HUMAN lipocalin 2 precursor 27 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity 0 CACCTCAGACCTGATCCCAGC 0.642 NA 27 75 1.04121e-07 1.45439e-07 0.005443 1 0 LCN1 3933 broad.mit.edu 37 9 138415808 138415808 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr9:138415808G>A uc004cfz.1 + 4 433 c.375G>A c.(373-375)GGG>GGA p.G125G LCN1_uc004cga.1_Silent_p.G125G NM_002297 NP_002288 P31025 LCN1_HUMAN lipocalin 1 precursor 125 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) AGCTGCACGGGAAGCCGGTCC 0.642 NA 3 33 0 0 0.001984 0 0 BCOR 54880 broad.mit.edu 37 X 39932097 39932097 + Silent SNP G G A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:39932097G>A uc004den.3 - 4 2794 c.2502C>T c.(2500-2502)AGC>AGT p.S834S BCOR_uc004dep.3_Silent_p.S834S|BCOR_uc004deo.3_Silent_p.S834S|BCOR_uc004dem.3_Silent_p.S834S|BCOR_uc004deq.3_Silent_p.S834S NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 834 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 GGGGCTCAGCGCTCTGGCCAA 0.557 NA 13 62 0 0 0.013537 0 0 PHF16 9767 broad.mit.edu 37 X 46918161 46918161 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:46918161G>T uc004dgx.2 + 11 2205 c.2154G>T c.(2152-2154)GAG>GAT p.E718D PHF16_uc004dgy.2_Missense_Mutation_p.E718D NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 718 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 CCTTTAAAGAGACCACCAATA 0.498 NA 10 57 0.000442599 0.000503648 0.006214 1 0 FOXP3 50943 broad.mit.edu 37 X 49108150 49108150 + Missense_Mutation SNP A A T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:49108150A>T uc004dnf.3 - 11 1309 c.1121T>A c.(1120-1122)TTC>TAC p.F374Y FOXP3_uc011mnb.1_Missense_Mutation_p.F397Y|FOXP3_uc011mnc.1_Missense_Mutation_p.F347Y|FOXP3_uc004dne.3_Missense_Mutation_p.F339Y|FOXP3_uc010niq.1_Missense_Mutation_p.F339Y NM_014009 NP_054728 Q9BZS1 FOXP3_HUMAN forkhead box P3 isoform a 374 Fork-head. B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding 0 Ovarian(276;0.236) ATGGTTTCTGAAGAAGGCAAA 0.587 GBM(182;1432 2112 16160 23073 31774) NA 5 25 0 0 0.001168 0 0 HUWE1 10075 broad.mit.edu 37 X 53581722 53581722 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:53581722G>C uc004dsp.2 - 61 8768 c.8366C>G c.(8365-8367)TCT>TGT p.S2789C HUWE1_uc004dsn.2_Missense_Mutation_p.S1613C NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2789 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TCCAGCTGGAGACTGCAGCTC 0.557 NA 3 96 0 0 0.009096 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62926160 62926160 + Missense_Mutation SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:62926160T>A uc004dvl.2 - 3 1198 c.359A>T c.(358-360)AAG>ATG p.K120M ARHGEF9_uc004dvj.1_Missense_Mutation_p.K9M|ARHGEF9_uc004dvk.1_Translation_Start_Site|ARHGEF9_uc011mos.1_Missense_Mutation_p.K99M|ARHGEF9_uc004dvm.1_Missense_Mutation_p.K99M|ARHGEF9_uc011mot.1_Missense_Mutation_p.K67M|ARHGEF9_uc004dvn.2_Missense_Mutation_p.K127M NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 120 DH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 CTTGAGGTGCTTGATGTAGTG 0.537 NA 3 22 0 0 0.004672 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650121 75650121 + Nonsense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:75650121G>T uc004ecm.1 + 1 2005 c.1798G>T c.(1798-1800)GAG>TAG p.E600* NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 600 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CCAAGCCAAGGAGGCTGAGAT 0.502 NA 6 39 2.0095e-06 2.53831e-06 0.001984 1 0 BRWD3 254065 broad.mit.edu 37 X 79978240 79978240 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:79978240C>A uc004edt.2 - 17 1960 c.1697G>T c.(1696-1698)CGT>CTT p.R566L BRWD3_uc004edo.2_Missense_Mutation_p.R162L|BRWD3_uc004edp.2_Missense_Mutation_p.R395L|BRWD3_uc004edq.2_Missense_Mutation_p.R162L|BRWD3_uc010nmj.1_Missense_Mutation_p.R162L|BRWD3_uc004edr.2_Missense_Mutation_p.R236L|BRWD3_uc004eds.2_Missense_Mutation_p.R162L|BRWD3_uc004edu.2_Missense_Mutation_p.R236L|BRWD3_uc004edv.2_Missense_Mutation_p.R162L|BRWD3_uc004edw.2_Missense_Mutation_p.R162L|BRWD3_uc004edx.2_Missense_Mutation_p.R162L|BRWD3_uc004edy.2_Missense_Mutation_p.R162L|BRWD3_uc004edz.2_Missense_Mutation_p.R236L|BRWD3_uc004eea.2_Missense_Mutation_p.R236L|BRWD3_uc004eeb.2_Missense_Mutation_p.R162L NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 566 ovary(4) 4 ATTGGCATCACGAATAAGAGG 0.393 NA 15 134 0.00316338 0.00343676 0.003163 1 0 POF1B 79983 broad.mit.edu 37 X 84606415 84606415 + Missense_Mutation SNP C C T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:84606415C>T uc004eer.2 - 5 627 c.481G>A c.(481-483)GGA>AGA p.G161R POF1B_uc004ees.2_Missense_Mutation_p.G161R NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 161 actin binding 0 ACATTGTTTCCTGGGAAGAAA 0.284 NA 9 95 0 0 0.004482 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132563 91132563 + Missense_Mutation SNP G G T TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:91132563G>T uc004efk.1 + 2 2169 c.1324G>T c.(1324-1326)GGC>TGC p.G442C PCDH11X_uc004efl.1_Missense_Mutation_p.G442C|PCDH11X_uc004efo.1_Missense_Mutation_p.G442C|PCDH11X_uc010nmv.1_Missense_Mutation_p.G442C|PCDH11X_uc004efm.1_Missense_Mutation_p.G442C|PCDH11X_uc004efn.1_Missense_Mutation_p.G442C|PCDH11X_uc004efh.1_Missense_Mutation_p.G442C|PCDH11X_uc004efj.1_Missense_Mutation_p.G442C NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 442 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TGCAGATGCTGGCAAACCTCC 0.408 NSCLC(38;925 1092 2571 38200 45895) NA 23 95 8.16721e-17 1.50779e-16 0.010818 1 0 HTR2C 3358 broad.mit.edu 37 X 114141816 114141816 + Silent SNP T T A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:114141816T>A uc004epu.1 + 6 1943 c.1215T>A c.(1213-1215)GCT>GCA p.A405A HTR2C_uc010nqc.1_Silent_p.A405A|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 405 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CCGCCACTGCTTTGTCTGGGA 0.453 NA 25 156 0 0 0.009535 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220652 118220652 + Missense_Mutation SNP C C A TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:118220652C>A uc004era.3 - 11 4541 c.4541G>T c.(4540-4542)AGG>ATG p.R1514M NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1514 ovary(4)|skin(1) 5 TTTATGTCCCCTGCCTACAGA 0.502 NA 14 61 7.93312e-07 1.02664e-06 0.020292 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125298619 125298619 + Missense_Mutation SNP G G C TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:125298619G>C uc004euk.1 - 1 1316 c.1289C>G c.(1288-1290)GCG>GGG p.A430G NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 430 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GGTGTAGAGCGCATTGGGGAA 0.602 NA 27 160 0 0 0.007291 0 0 ZIC3 7547 broad.mit.edu 37 X 136649500 136649500 + Missense_Mutation SNP C C G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:136649500C>G uc004fak.2 + 1 1155 c.650C>G c.(649-651)CCT>CGT p.P217R NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 217 P -> A (in a patient with atrial septal defect and pulmonic stenosis not associated with heterotaxy; lacks DNA- binding; does not inhibit transcriptional activation and interaction with GLI3). cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P217A(1) ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GCTCAGTTTCCTAACTACAGC 0.662 NA 6 55 0 0 0.001984 0 0 VCAM1 7412 broad.mit.edu 37 1 101186128 101186128 + Frame_Shift_Del DEL C C - TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr1:101186128delC uc001dti.2 + 2 281 c.161delC c.(160-162)TCCfs p.S54fs VCAM1_uc001dtj.2_Frame_Shift_Del_p.S54fs|VCAM1_uc010ouj.1_Intron NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 54 Ig-like C2-type 1.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GGCTGTGAGTCCCCATTTTTC 0.468 NA 21 115 --- --- --- --- NA NA NA NA NA FZD10 11211 broad.mit.edu 37 12 130648791 130648791 + Frame_Shift_Del DEL A A - TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr12:130648791delA uc001uii.2 + 1 1760 c.1304delA c.(1303-1305)GACfs p.D435fs uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 435 Cytoplasmic (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GAGAACACGGACAAGCTGGAG 0.602 NA 10 62 --- --- --- --- NA NA NA NA NA LOC220429 220429 broad.mit.edu 37 13 50466803 50466803 + Frame_Shift_Del DEL C C - TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr13:50466803delC uc001vdk.2 + 1 2259 c.2077delC c.(2077-2079)CCAfs p.P693fs NR_003268 Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026). 0 CTTTGTTCCTCCACCTCTTGC 0.493 NA 49 407 --- --- --- --- NA NA NA NA NA PCK1 5105 broad.mit.edu 37 20 56137217 56137217 + Frame_Shift_Del DEL C C - TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr20:56137217delC uc002xyn.3 + 3 478 c.315delC c.(313-315)ATCfs p.I105fs PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 105 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CAGTGCCCATCCCCAAAACAG 0.547 NA 7 76 --- --- --- --- NA NA NA NA NA DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs150114751 byFrequency TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 TCG TCG - - TCG TCG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr3:137880741_137880743delTCG uc003erv.2 - 8 1759_1761 c.1623_1625delCGA c.(1621-1626)GATGAT>GAT p.541_542DD>D DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 541_542 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TTAAGCTGCATCGTCATCATCAT 0.251 NA 10 197 --- --- --- --- NA NA NA NA NA EXT1 2131 broad.mit.edu 37 8 118812003 118812004 + Frame_Shift_Ins INS - - G TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chr8:118812003_118812004insG uc003yok.1 - 11 2961_2962 c.2188_2189insC c.(2188-2190)AAAfs p.K730fs NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 730 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GACCTGGTCTTTAAAGAGGACG 0.535 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 8 85 --- --- --- --- NA NA NA NA NA NOX1 27035 broad.mit.edu 37 X 100125757 100125760 + Frame_Shift_Del DEL AGGA AGGA - TCGA-44-2655-01A-01D-1553-08 TCGA-44-2655-11A-01D-1553-08 AGGA AGGA - - AGGA AGGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2f866c6e-34b1-4aa0-bbaa-9a9919c1fc13 e2e670a2-4521-4fb9-85e0-9c26cf0f71d6 g.chrX:100125757_100125760delAGGA uc004egj.2 - 2 295_298 c.89_92delTCCT c.(88-93)TTCCTGfs p.F30fs uc010nnf.2_Intron|NOX1_uc004egl.3_Frame_Shift_Del_p.F30fs|NOX1_uc010nne.2_Frame_Shift_Del_p.F30fs NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 30_31 Extracellular (Potential). angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 CTCATATTTCAGGAAGGCATCCAC 0.377 NA 16 176 --- --- --- --- NA NA NA NA NA