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 11561297 11561297 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:11561297G>T uc001ash.3 + 2 386 c.248G>T c.(247-249)AGC>ATC p.S83I PTCHD2_uc001asi.1_Missense_Mutation_p.S83I NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 83 Helical; (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) CTGGGCTGCAGCATCCCCATG 0.612 NA 17 80 1.56452e-12 2.83849e-12 0.007413 1 0 PTPRU 10076 broad.mit.edu 37 1 29606079 29606079 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:29606079C>T uc001bru.2 + 10 1785 c.1675C>T c.(1675-1677)CCA>TCA p.P559S PTPRU_uc001brv.2_Missense_Mutation_p.P559S|PTPRU_uc001brw.2_Missense_Mutation_p.P559S|PTPRU_uc009vtq.2_Missense_Mutation_p.P559S|PTPRU_uc009vtr.2_Missense_Mutation_p.P559S NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 559 Extracellular (Potential).|Fibronectin type-III 3. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CAACCTGCACCCAGGCACCAC 0.602 NA 10 162 0 0 0.008291 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43632904 43632904 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:43632904C>A uc001cin.2 - 6 737 c.540G>T c.(538-540)GTG>GTT p.V180V EBNA1BP2_uc001cio.2_Silent_p.V235V|EBNA1BP2_uc001cim.2_Silent_p.V75V|EBNA1BP2_uc010ojx.1_Silent_p.V235V NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 180 ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCTCCGTTTGCACCTGTGATA 0.418 NA 14 147 6.31663e-08 1.01119e-07 0.003163 1 0 EFCAB7 84455 broad.mit.edu 37 1 63998406 63998406 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:63998406T>A uc001dbf.2 + 4 759 c.465T>A c.(463-465)GAT>GAA p.D155E NM_032437 NP_115813 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 155 EF-hand 2. calcium ion binding 0 TAAATGCTGATGGCAAATTTG 0.274 NA 12 100 0 0 0.001855 0 0 SPAG17 200162 broad.mit.edu 37 1 118566053 118566053 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:118566053G>T uc001ehk.2 - 28 4011 c.3943C>A c.(3943-3945)CCC>ACC p.P1315T NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1315 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCTGAATTGGGACTCCTGCTC 0.423 NA 4 66 1.6384e-10 2.82457e-10 0.001984 1 0 ITGA10 8515 broad.mit.edu 37 1 145536120 145536120 + Nonsense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:145536120C>T uc001eoa.2 + 17 2288 c.2212C>T c.(2212-2214)CAG>TAG p.Q738* NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Nonsense_Mutation_p.Q607*|ITGA10_uc009wiw.2_Nonsense_Mutation_p.Q595*|ITGA10_uc010oyw.1_Nonsense_Mutation_p.Q683* NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 738 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CACTTGTGAGCAGCTACACTT 0.552 NA 23 70 0 0 0.00278 0 0 PIAS3 10401 broad.mit.edu 37 1 145580301 145580301 + Silent SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:145580301T>C uc001eoc.1 + 6 874 c.783T>C c.(781-783)AAT>AAC p.N261N NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Silent_p.N252N|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 261 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGTCAATTGGTCATCTG 0.587 NA 5 139 0 0 0.000602 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149785214 149785214 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:149785214G>A uc010pbl.1 - 1 23 c.23C>T c.(22-24)GCC>GTC p.A8V HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 8 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 CGACTTGCGGGCAGTCTGCTT 0.602 NA 4 50 0 0 0.000602 0 0 FLG 2312 broad.mit.edu 37 1 152283027 152283027 + Silent SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:152283027C>T uc001ezu.1 - 3 4371 c.4335G>A c.(4333-4335)GTG>GTA p.V1445V uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1445 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGAGAGCTCACCTGGTAGA 0.587 NA Ichthyosis 12 333 0 0 0.001368 0 0 FLG2 388698 broad.mit.edu 37 1 152328814 152328814 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:152328814C>A uc001ezw.3 - 3 1521 c.1448G>T c.(1447-1449)GGG>GTG p.G483V uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 483 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGCCAGACCCATGTTGTCC 0.527 NA 38 335 1.90571e-15 3.61231e-15 0.004289 1 0 PEAR1 375033 broad.mit.edu 37 1 156878710 156878710 + Silent SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:156878710C>G uc001fqj.1 + 11 1409 c.1293C>G c.(1291-1293)GGC>GGG p.G431G PEAR1_uc009wsl.1_Silent_p.G232G|PEAR1_uc001fqk.1_Silent_p.G56G NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 431 EGF-like 5. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCTTTCAGGGCCCTCACTGTG 0.627 NA 16 57 0 0 0.006122 0 0 DUSP27 92235 broad.mit.edu 37 1 167095997 167095997 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:167095997C>A uc001geb.1 + 5 1629 c.1629C>A c.(1627-1629)GCC>GCA p.A543A NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 543 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 AGCTCACTGCCCTGGAAAGAT 0.552 NA 10 91 2.17888e-05 2.96483e-05 0.006214 1 0 F5 2153 broad.mit.edu 37 1 169511383 169511383 + Nonsense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:169511383C>T uc001ggg.1 - 13 3090 c.2945G>A c.(2944-2946)TGG>TAG p.W982* NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 982 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GCTTTCTCCCCAAGCACGTGA 0.463 NA 12 206 0 0 0.000978 0 0 C1orf129 80133 broad.mit.edu 37 1 170961380 170961380 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:170961380G>C uc001ghg.2 + 12 1234 c.1104G>C c.(1102-1104)TTG>TTC p.L368F C1orf129_uc009wvy.2_Missense_Mutation_p.L175F|C1orf129_uc010plz.1_Missense_Mutation_p.L368F NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 368 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAATCTTATTGATACTGAAAG 0.502 NA 8 95 0 0 0.00308 0 0 FMO2 2327 broad.mit.edu 37 1 171154954 171154954 + Silent SNP T T G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:171154954T>G uc001ghk.1 + 2 219 c.102T>G c.(100-102)ACT>ACG p.T34T FMO2_uc010pmd.1_Intron NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 34 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTGAGAGAACTGAAGATATTG 0.458 NA 9 188 0 0 0.006214 0 0 SLC9A11 284525 broad.mit.edu 37 1 173517545 173517545 + Missense_Mutation SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:173517545T>C uc001giz.2 - 12 1867 c.1444A>G c.(1444-1446)AGG>GGG p.R482G SLC9A11_uc009wwe.2_Missense_Mutation_p.R40G|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 482 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TATTCGATCCTCGTTTTATCT 0.368 NA 3 85 0 0 0.000248 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525866 176525866 + Silent SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:176525866G>A uc001gkz.2 + 2 1572 c.408G>A c.(406-408)GGG>GGA p.G136G PAPPA2_uc001gky.1_Silent_p.G136G|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 136 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GTCCTATTGGGCAATCTGAGC 0.557 NA 5 155 0 0 0.000602 0 0 ASTN1 460 broad.mit.edu 37 1 176845741 176845741 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:176845741C>A uc001glc.2 - 21 3607 c.3395G>T c.(3394-3396)CGG>CTG p.R1132L ASTN1_uc001glb.1_Missense_Mutation_p.R1132L|ASTN1_uc001gld.1_Missense_Mutation_p.R1132L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1140 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CCTGGAGCGCCGTCCTGTGTT 0.572 NA 8 49 1.12685e-05 1.57264e-05 0.004482 1 0 TDRD5 163589 broad.mit.edu 37 1 179562702 179562702 + Nonsense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:179562702G>T uc001gnf.1 + 3 590 c.340G>T c.(340-342)GGA>TGA p.G114* TDRD5_uc010pnp.1_Nonsense_Mutation_p.G114* NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 114 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 TATTTATTCTGGACCGAGATC 0.463 NA 4 80 2.56e-06 3.6806e-06 0.000248 1 0 HMCN1 83872 broad.mit.edu 37 1 186122916 186122916 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:186122916G>A uc001grq.1 + 97 15282 c.15053G>A c.(15052-15054)GGG>GAG p.G5018E HMCN1_uc001grs.1_Missense_Mutation_p.G587E NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5018 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ACAGGTCCTGGGCAGCTGTAC 0.458 NA 7 61 0 0 0.00308 0 0 PTGS2 5743 broad.mit.edu 37 1 186645168 186645168 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:186645168C>G uc001gsb.2 - 8 1256 c.1119G>C c.(1117-1119)TGG>TGC p.W373C PTGS2_uc009wyo.2_Missense_Mutation_p.W220C NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 373 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GAAGGGGATGCCAGTGATAGA 0.383 NA 8 135 0 0 0.006214 0 0 UCHL5 51377 broad.mit.edu 37 1 192992151 192992151 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:192992151C>T uc001gsm.2 - 9 882 c.751G>A c.(751-753)GAT>AAT p.D251N UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.D250N|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Missense_Mutation_p.D250N|UCHL5_uc001gsq.2_Missense_Mutation_p.D250N|UCHL5_uc010pow.1_Missense_Mutation_p.D126N|UCHL5_uc010pox.1_Missense_Mutation_p.D127N NM_015984 NP_057068 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 251 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|ovary(1) 3 TTACCTTGATCTGTATCCATG 0.338 NA 11 177 0 0 0.008291 0 0 DDX59 83479 broad.mit.edu 37 1 200635159 200635159 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:200635159C>T uc009wzk.2 - 2 953 c.710G>A c.(709-711)GGA>GAA p.G237E DDX59_uc010ppl.1_Missense_Mutation_p.G237E NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 237 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 TCCCAGAAGTCCCACAGGAAT 0.443 NA 10 157 0 0 0.000978 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204379882 204379882 + Missense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:204379882A>T uc001hav.3 - 1 1063 c.658T>A c.(658-660)TCC>ACC p.S220T NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 220 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) AGCAAATAGGATACCACACTG 0.498 NA 6 113 0 0 0.001984 0 0 USH2A 7399 broad.mit.edu 37 1 216172314 216172314 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:216172314C>G uc001hku.1 - 34 6959 c.6572G>C c.(6571-6573)AGT>ACT p.S2191T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2191 Extracellular (Potential).|Fibronectin type-III 8. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATAGATGACACTCCAAATTGT 0.343 NA HNSCC(13;0.011) 4 96 0 0 0.000248 0 0 USH2A 7399 broad.mit.edu 37 1 216595317 216595317 + Missense_Mutation SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:216595317T>C uc001hku.1 - 2 749 c.362A>G c.(361-363)CAT>CGT p.H121R USH2A_uc001hkv.2_Missense_Mutation_p.H121R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 121 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGAATTGCTATGGGCGTTAGG 0.458 NA HNSCC(13;0.011) 3 89 0 0 0.004672 0 0 HEATR1 55127 broad.mit.edu 37 1 236730018 236730018 + Silent SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:236730018G>A uc001hyd.1 - 30 4361 c.4236C>T c.(4234-4236)CTC>CTT p.L1412L HEATR1_uc009xgh.1_Silent_p.L574L NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1412 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GGAGAATCCAGAGGAATTTCT 0.498 NA 4 37 0 0 0.000248 0 0 RYR2 6262 broad.mit.edu 37 1 237843805 237843805 + Missense_Mutation SNP T T G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:237843805T>G uc001hyl.1 + 62 9065 c.8945T>G c.(8944-8946)TTC>TGC p.F2982C RYR2_uc010pxz.1_5'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2982 Modulator (Potential).|Cytoplasmic (By similarity). 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) CGTTTATACTTCTTATCTGCA 0.388 NA 3 32 0 0 0.004672 0 0 RYR2 6262 broad.mit.edu 37 1 237886560 237886560 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:237886560C>A uc001hyl.1 + 74 10807 c.10687C>A c.(10687-10689)CAG>AAG p.Q3563K RYR2_uc010pxz.1_Missense_Mutation_p.Q518K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3563 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) TCATCTTGAACAGGTCAGGCT 0.348 NA 9 96 2.17888e-05 2.96483e-05 0.006214 1 0 WDR64 128025 broad.mit.edu 37 1 241913018 241913018 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:241913018G>T uc001hzf.1 + 8 1047 c.894G>T c.(892-894)ATG>ATT p.M298I WDR64_uc001hzg.1_Missense_Mutation_p.M44I NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 578 WD 8. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CTATCAAAATGATCCAGGTTT 0.502 NA 16 96 3.52763e-06 5.03381e-06 0.00499 1 0 SMYD3 64754 broad.mit.edu 37 1 246493833 246493833 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:246493833C>T uc001ibl.2 - 4 438 c.343G>A c.(343-345)GGA>AGA p.G115R SMYD3_uc001ibk.2_Missense_Mutation_p.G56R NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 115 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) GAAGGTGCTCCATCCATCTGT 0.318 NA 6 101 0 0 0.001168 0 0 OR2M4 26245 broad.mit.edu 37 1 248402509 248402509 + Silent SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr1:248402509T>C uc010pzh.1 + 1 279 c.279T>C c.(277-279)TCT>TCC p.S93S NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|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;0.0245) AATCTATCTCTCTGGCAGGTT 0.463 NA 12 101 0 0 0.000978 0 0 CUBN 8029 broad.mit.edu 37 10 16975090 16975090 + Silent SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:16975090T>A uc001ioo.2 - 40 6172 c.6120A>T c.(6118-6120)CGA>CGT p.R2040R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2040 CUB 14. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TCTCACCATCTCGTATCACAA 0.458 NA 4 71 0 0 0.000602 0 0 CUL2 8453 broad.mit.edu 37 10 35349836 35349836 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:35349836T>A uc001ixv.2 - 4 493 c.283A>T c.(283-285)AGC>TGC p.S95C CUL2_uc009xma.2_5'UTR|CUL2_uc010qer.1_Missense_Mutation_p.S114C|CUL2_uc001ixw.2_Missense_Mutation_p.S95C|CUL2_uc010qes.1_Missense_Mutation_p.S95C NM_003591 NP_003582 Q13617 CUL2_HUMAN cullin 2 95 SKGA -> IRHE (in Ref. 7; AAC50545). cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding ovary(3) 3 GCACCCTTGCTGTATTCTTCC 0.368 NA 13 64 0 0 0.001368 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088981 43088981 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:43088981C>G uc001jaf.1 - 5 1532 c.1417G>C c.(1417-1419)GAG>CAG p.E473Q ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E361Q|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 473 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTCCCACACTCAAGACATTCA 0.378 Melanoma(137;1247 1767 16772 25727 43810) NA 3 69 0 0 0.004672 0 0 MARCH8 220972 broad.mit.edu 37 10 45953764 45953764 + Nonsense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:45953764C>A uc001jci.1 - 7 1038 c.799G>T c.(799-801)GGA>TGA p.G267* MARCH8_uc001jch.2_Nonsense_Mutation_p.G549*|MARCH8_uc001jcj.1_Nonsense_Mutation_p.G267*|MARCH8_uc001jck.1_Nonsense_Mutation_p.G267*|uc001jcf.2_5'Flank|MARCH8_uc001jcg.1_Nonsense_Mutation_p.G136* NM_001002266 NP_001002266 Q5T0T0 MARH8_HUMAN cellular modulator of immune recognition isoform 267 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding 0 TGACAGATTCCATATCCATGT 0.388 NSCLC(102;658 1594 2173 16344 34808) NA 12 106 2.80697e-09 4.67012e-09 0.000978 1 0 ZWINT 11130 broad.mit.edu 37 10 58118214 58118214 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:58118214C>A uc001jjx.1 - 8 836 c.799G>T c.(799-801)GGT>TGT p.G267C ZWINT_uc001jjy.1_Missense_Mutation_p.G220C|ZWINT_uc001jka.1_Missense_Mutation_p.G267C NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 267 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 GGTTGTAGACCAACAGCCTTG 0.502 NA 16 69 1.15088e-07 1.78973e-07 0.004007 1 0 MYPN 84665 broad.mit.edu 37 10 69954182 69954182 + Silent SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:69954182A>T uc001jnm.3 + 15 3173 c.2988A>T c.(2986-2988)CGA>CGT p.R996R MYPN_uc001jnn.3_Silent_p.R721R|MYPN_uc001jno.3_Silent_p.R996R|MYPN_uc009xpt.2_Silent_p.R996R|MYPN_uc010qit.1_Silent_p.R702R|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 996 Ig-like 3.|Interaction with ACTN. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 AAATGAGGCGAGAAGGAGATG 0.453 NA 6 26 0 0 0.001984 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72511354 72511354 + Nonsense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:72511354G>T uc001jrh.2 + 17 2548 c.2548G>T c.(2548-2550)GAG>TAG p.E850* ADAMTS14_uc001jrg.2_Nonsense_Mutation_p.E853* NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 850 TSP type-1 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 GGACACCTATGAGTGGGCGCT 0.627 NA 9 49 3.09899e-07 4.78022e-07 0.004482 1 0 PDE6C 5146 broad.mit.edu 37 10 95380394 95380394 + Silent SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:95380394C>T uc001kiu.3 + 2 624 c.486C>T c.(484-486)AGC>AGT p.S162S NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 162 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) TTCAGAACAGCCATTTTTCTG 0.443 NA 10 98 0 0 0.006214 0 0 CHUK 1147 broad.mit.edu 37 10 101977791 101977791 + Silent SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:101977791T>A uc001kqp.2 - 9 949 c.894A>T c.(892-894)CCA>CCT p.P298P NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 298 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) CAAAACATCTTGGCTGCTTCA 0.388 Ovarian(159;52 1904 10536 35305 37148) NA 7 40 0 0 0.004482 0 0 FAM178A 55719 broad.mit.edu 37 10 102683760 102683760 + Silent SNP A A G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:102683760A>G uc001krt.3 + 5 1544 c.1002A>G c.(1000-1002)GAA>GAG p.E334E FAM178A_uc001krr.1_Silent_p.E334E|FAM178A_uc001krs.2_Silent_p.E334E|FAM178A_uc001kru.1_Silent_p.E269E NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 334 0 AATTCCCTGAAAAAAGAAAAA 0.348 NA 4 31 0 0 0.000248 0 0 SORCS3 22986 broad.mit.edu 37 10 106865208 106865208 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:106865208G>T uc001kyi.1 + 7 1374 c.1147G>T c.(1147-1149)GGG>TGG p.G383W NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 383 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AACTAGAAGTGGGCCTTTTGC 0.473 NSCLC(116;1497 1690 7108 13108 14106) NA 6 128 3.59834e-05 4.72747e-05 0.001168 1 0 SLC18A2 6571 broad.mit.edu 37 10 119029956 119029956 + Silent SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:119029956T>A uc001ldd.1 + 15 1453 c.1422T>A c.(1420-1422)CCT>CCA p.P474P SLC18A2_uc009xyy.1_Silent_p.P271P NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 474 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) GAAGTCCACCTGCCAAAGAAG 0.378 NA 4 59 0 0 0.000602 0 0 PSTK 118672 broad.mit.edu 37 10 124740146 124740146 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:124740146G>A uc001lgy.1 + 1 591 c.151G>A c.(151-153)GGT>AGT p.G51S NM_153336 NP_699167 Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 51 ATP binding|kinase activity liver(1) 1 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) TTGGGCCATCGGTGTTGTCGC 0.682 NA OREG0020597 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 0 0 0.000602 0 0 EBF3 253738 broad.mit.edu 37 10 131640445 131640445 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr10:131640445C>G uc001lki.1 - 13 1339 c.1280G>C c.(1279-1281)GGC>GCC p.G427A NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 436 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GGAGTTGACGCCCATCATGCC 0.617 NA 5 118 0 0 0.001984 0 0 MMP26 56547 broad.mit.edu 37 11 5011842 5011842 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:5011842C>A uc001lzv.2 + 3 353 c.335C>A c.(334-336)CCA>CAA p.P112Q NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 112 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) ATCAATTACCCACATGATATG 0.388 NA 6 77 3.59834e-05 4.72747e-05 0.001168 1 0 OR51B5 282763 broad.mit.edu 37 11 5364598 5364598 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:5364598G>T uc001map.1 - 1 157 c.157C>A c.(157-159)CTT>ATT p.L53I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.L53I NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 53 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTCATGAAGATTGTGATCT 0.502 NA 7 64 2.0095e-06 2.9334e-06 0.001984 1 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5624904 5624904 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:5624904G>A uc001mbf.2 + 2 690 c.446G>A c.(445-447)CGG>CAG p.R149Q HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.R95Q|TRIM6_uc010qzj.1_5'UTR|TRIM6_uc001mbc.1_Missense_Mutation_p.R121Q|TRIM6_uc001mbe.2_5'UTR|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.R149Q|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 149 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CTTTGTGAGCGGTCTCAGGAG 0.557 NA 6 86 0 0 0.001984 0 0 OR52E6 390078 broad.mit.edu 37 11 5862540 5862540 + Silent SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:5862540G>T uc010qzq.1 - 1 588 c.588C>A c.(586-588)GTC>GTA p.V196V TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATAATGTTGACTTTGATGC 0.463 NA 27 85 1.17739e-12 2.14635e-12 0.005443 1 0 DCHS1 8642 broad.mit.edu 37 11 6650685 6650685 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:6650685G>A uc001mem.1 - 12 5569 c.5159C>T c.(5158-5160)ACA>ATA p.T1720I NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1720 Cadherin 16.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATGTACCTGTCAGGTTGAT 0.493 NA 5 20 0 0 0.000602 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806622 6806622 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:6806622G>T uc001mer.1 + 1 354 c.354G>T c.(352-354)ATG>ATT p.M118I NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGCCTTCATGGCCTATGACA 0.547 NA 9 67 1.12685e-05 1.57264e-05 0.004482 1 0 SYT9 143425 broad.mit.edu 37 11 7324269 7324269 + Splice_Site SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:7324269G>C uc001mfe.2 + 2 383 c.146_splice c.e2-1 p.D49_splice SYT9_uc001mfd.2_Splice_Site|SYT9_uc009yfi.2_Splice_Site NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CTTCTTTGCAGATATCTCAGT 0.537 NA 19 131 0 0 0.001882 0 0 LUZP2 338645 broad.mit.edu 37 11 25098875 25098875 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:25098875G>A uc001mqs.2 + 11 1093 c.859G>A c.(859-861)GAG>AAG p.E287K LUZP2_uc009yif.2_Missense_Mutation_p.E201K|LUZP2_uc009yig.2_Missense_Mutation_p.E245K NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 287 extracellular region ovary(1)|skin(1) 2 ACTTTTGTAGGAGGGCAGACC 0.408 NA 9 156 0 0 0.004482 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36057670 36057670 + Missense_Mutation SNP G G C rs144816501 TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:36057670G>C uc001mwk.1 + 2 101 c.64G>C c.(64-66)GGG>CGG p.G22R LDLRAD3_uc010rey.1_Intron|LDLRAD3_uc010rez.1_Intron NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 22 Extracellular (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) GCTGCTCCCCGGGAACAACTT 0.597 NA 3 57 0 0 0.004672 0 0 OR4A5 81318 broad.mit.edu 37 11 51412225 51412225 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:51412225C>T uc001nhi.1 - 1 171 c.171G>A c.(169-171)ATG>ATA p.M57I NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) GGAAGAAATACATTGGGGAAC 0.403 NA 4 61 0 0 0.000248 0 0 OR4P4 81300 broad.mit.edu 37 11 55406405 55406406 + Missense_Mutation DNP AC AC CA TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:55406405_55406406AC>CA uc010rij.1 + 1 572_573 c.572_573AC>CA c.(571-573)CAC>CCA p.H191P NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TCTAATATACACATGATAGGTC 0.356 NA 9 44 0 0 0.004672 0 0 OR5L2 26338 broad.mit.edu 37 11 55594859 55594859 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:55594859C>A uc001nhy.1 + 1 165 c.165C>A c.(163-165)CTC>CTA p.L55L NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GCTCTCGGCTCCACACCCCCG 0.468 NA HNSCC(27;0.073) 20 309 2.4624e-09 4.13292e-09 0.008871 1 0 P2RX3 5024 broad.mit.edu 37 11 57114033 57114033 + Silent SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:57114033C>T uc001nju.2 + 2 211 c.135C>T c.(133-135)CAC>CAT p.H45H NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 45 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 TTTTCTTGCACGAGAAGGCTT 0.547 NA 5 53 0 0 0.000602 0 0 OR5B17 219965 broad.mit.edu 37 11 58125859 58125859 + Silent SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:58125859T>A uc010rke.1 - 1 684 c.684A>T c.(682-684)ACA>ACT p.T228T NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATCCCTTACCTGTGTGCCTCT 0.348 NA 12 39 0 0 0.000978 0 0 VWCE 220001 broad.mit.edu 37 11 61026563 61026563 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:61026563C>T uc001nra.2 - 20 2731 c.2452G>A c.(2452-2454)GCA>ACA p.A818T VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 818 extracellular region calcium ion binding ovary(1) 1 TGAGCTCCTGCCGGGCTTGTA 0.602 NA 9 40 0 0 0.004482 0 0 DDB1 1642 broad.mit.edu 37 11 61084039 61084039 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:61084039C>A uc001nrc.3 - 11 1452 c.1226G>T c.(1225-1227)GGA>GTA p.G409V DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.G409V|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.G409V NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 409 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 TGGCCATAATCCTGGAACAAG 0.438 NA NER 24 105 2.21704e-12 3.96568e-12 0.00278 1 0 CCDC88B 283234 broad.mit.edu 37 11 64111737 64111737 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:64111737C>G uc001nzy.2 + 14 1768 c.1724C>G c.(1723-1725)TCC>TGC p.S575C CCDC88B_uc009ypo.1_Missense_Mutation_p.S572C|CCDC88B_uc001nzz.1_Missense_Mutation_p.S224C NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 575 microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 TCAGACTGGTCCCCGCAAGAG 0.642 NA 4 44 0 0 0.000248 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68682307 68682307 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:68682307C>T uc001ook.1 + 6 830 c.728C>T c.(727-729)CCC>CTC p.P243L IGHMBP2_uc001ooj.1_RNA NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 243 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGCTGCGCCCCCTCCAACATC 0.532 NA 8 74 0 0 0.004482 0 0 PAK1 5058 broad.mit.edu 37 11 77051741 77051741 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:77051741C>A uc001oyh.3 - 11 1599 c.1066G>T c.(1066-1068)GTG>TTG p.V356L PAK1_uc010rso.1_Missense_Mutation_p.V258L|PAK1_uc001oyg.3_Missense_Mutation_p.V356L|PAK1_uc001oyi.1_Missense_Mutation_p.V356L|PAK1_uc010rsn.1_Missense_Mutation_p.V69L NM_002576 NP_002567 Q13153 PAK1_HUMAN p21-activated kinase 1 isoform 2 356 Protein kinase. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity skin(2)|stomach(1)|lung(1) 4 all_cancers(14;1.75e-18) GTTTCTGTCACCACATCTGTC 0.507 NA 40 240 5.44703e-19 1.04814e-18 0.002222 1 0 CASP5 838 broad.mit.edu 37 11 104874001 104874001 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:104874001C>A uc010rva.1 - 4 575 c.543G>T c.(541-543)GAG>GAT p.E181D CASP5_uc010ruz.1_Missense_Mutation_p.E194D|CASP5_uc010rvb.1_Missense_Mutation_p.E123D|CASP5_uc010rvc.1_Missense_Mutation_p.E39D|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 181 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AGCACAGCACCTCATCATGAT 0.333 NA 7 104 8.12818e-05 0.000103228 0.001984 1 0 SIK2 23235 broad.mit.edu 37 11 111573994 111573994 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr11:111573994C>G uc001plt.2 + 7 913 c.795C>G c.(793-795)ATC>ATG p.I265M NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 265 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 TAGCCCAAATCAAGGAGCATA 0.443 NA 11 56 0 0 0.008291 0 0 GALNT8 26290 broad.mit.edu 37 12 4835766 4835766 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:4835766G>A uc001qne.1 + 2 372 c.280G>A c.(280-282)GAA>AAA p.E94K NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 94 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 GGCGAAAGATGAAGTACGCCC 0.443 Colon(108;631 1558 7270 20097 39846) NA 5 34 0 0 0.000602 0 0 GALNT8 26290 broad.mit.edu 37 12 4848400 4848400 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:4848400T>A uc001qne.1 + 3 673 c.581T>A c.(580-582)CTG>CAG p.L194Q NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 194 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 AATGAAGCTCTGTCCATTATA 0.418 Colon(108;631 1558 7270 20097 39846) NA 3 87 0 0 0.004672 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966757 41966757 + Nonsense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:41966757G>T uc010skn.1 + 10 1647 c.1579G>T c.(1579-1581)GAG>TAG p.E527* PDZRN4_uc001rmq.3_Nonsense_Mutation_p.E468*|PDZRN4_uc009zjz.2_Nonsense_Mutation_p.E466*|PDZRN4_uc001rmr.2_Nonsense_Mutation_p.E353* NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 726 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGACATCATGGAGCATCCAGA 0.473 NA 13 134 1.02788e-11 1.80472e-11 0.00499 1 0 DNAJC14 85406 broad.mit.edu 37 12 56221779 56221779 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:56221779G>A uc001shx.1 - 2 868 c.664C>T c.(664-666)CGG>TGG p.R222W DNAJC14_uc001shu.1_Missense_Mutation_p.R222W|DNAJC14_uc009zob.1_Missense_Mutation_p.R222W|DNAJC14_uc001shy.1_Missense_Mutation_p.R222W NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 222 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 CGACCCAGCCGATGTCGACCA 0.597 NA 4 55 0 0 0.000248 0 0 NAV3 89795 broad.mit.edu 37 12 78225279 78225279 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:78225279C>A uc001syp.2 + 1 211 c.38C>A c.(37-39)CCA>CAA p.P13Q NAV3_uc001syo.2_Missense_Mutation_p.P13Q NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 13 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTGAGGCAGCCAGCTGTTGGG 0.458 NA HNSCC(70;0.22) 52 223 6.03219e-31 1.18467e-30 0.00361 1 0 EPYC 1833 broad.mit.edu 37 12 91372012 91372013 + Missense_Mutation DNP CT CT AA TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:91372012_91372013CT>AA uc001tbk.2 - 3 285_286 c.192_193AG>TT c.(190-195)TCAGGG>TCTTGG p.G65W NM_004950 NP_004941 Q99645 EPYC_HUMAN dermatan sulfate proteoglycan 3 precursor 65 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding skin(1) 1 TCTCTGTTCCCTGAAGGCATCA 0.475 NA OREG0022019 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 74 0 0 0.004672 0 0 ANO4 121601 broad.mit.edu 37 12 101510519 101510519 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:101510519G>A uc010svm.1 + 25 3085 c.2513G>A c.(2512-2514)CGA>CAA p.R838Q ANO4_uc001thw.2_Missense_Mutation_p.R803Q|ANO4_uc001thx.2_Missense_Mutation_p.R838Q|ANO4_uc001thy.2_Missense_Mutation_p.R358Q NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 838 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 TTTGAGAACCGATCTGAGCCT 0.507 NA HNSCC(74;0.22) 5 145 0 0 0.000602 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686090 108686090 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:108686090T>A uc009zuw.2 - 3 841 c.650A>T c.(649-651)CAC>CTC p.H217L CMKLR1_uc001tmw.2_Missense_Mutation_p.H217L|CMKLR1_uc001tmv.2_Missense_Mutation_p.H215L|CMKLR1_uc009zuv.2_Missense_Mutation_p.H217L NM_001142345 NP_001135817 Q99788 CML1_HUMAN chemokine-like receptor 1 isoform a 217 Extracellular (Potential). chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity lung(3)|ovary(1)|pancreas(1) 5 CACCACCATGTGCCGGCTATA 0.562 NA 3 38 0 0 0.004672 0 0 PIWIL1 9271 broad.mit.edu 37 12 130830955 130830955 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:130830955C>A uc001uik.2 + 5 447 c.357C>A c.(355-357)TTC>TTA p.F119L PIWIL1_uc001uij.1_Missense_Mutation_p.F119L NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 119 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CTAACCATTTCCGGCTGACAT 0.393 NA 12 39 3.07112e-06 4.39886e-06 0.000978 1 0 C13orf33 84935 broad.mit.edu 37 13 31498491 31498491 + Silent SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr13:31498491A>T uc001uth.3 + 5 1172 c.831A>T c.(829-831)TCA>TCT p.S277S uc001utg.1_Intron NM_032849 NP_116238 Q5VYS4 CM033_HUMAN hypothetical protein LOC84935 277 0 Lung SC(185;0.0281) all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244) CACCCAGATCATCTCTGACAG 0.363 NA 21 103 0 0 0.008871 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21762860 21762860 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr14:21762860C>T uc001wag.2 + 2 110 c.110C>T c.(109-111)CCC>CTC p.P37L NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 37 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) ACTCAACCACCCTTGAGCAGG 0.418 NA 9 55 0 0 0.008291 0 0 RABGGTA 5875 broad.mit.edu 37 14 24735687 24735687 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr14:24735687C>A uc001wof.2 - 15 1926 c.1504G>T c.(1504-1506)GAC>TAC p.D502Y RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.D502Y|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 502 LRR 3. visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) GTGACGCCGTCCAGGGACTCT 0.607 NA 9 75 0.000442599 0.00055108 0.006214 1 0 ADCY4 196883 broad.mit.edu 37 14 24788542 24788542 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr14:24788542G>T uc001wov.2 - 22 2840 c.2834C>A c.(2833-2835)GCA>GAA p.A945E ADCY4_uc001wow.2_Missense_Mutation_p.A945E|ADCY4_uc010toh.1_Missense_Mutation_p.A631E|ADCY4_uc001wox.2_Missense_Mutation_p.A945E|ADCY4_uc001woy.2_Missense_Mutation_p.A945E NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 945 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) TACCTGTTGTGCATCCTGTCC 0.552 NA 12 68 1.5842e-08 2.6129e-08 0.001855 1 0 ADCY4 196883 broad.mit.edu 37 14 24793584 24793584 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr14:24793584C>A uc001wov.2 - 15 1843 c.1837G>T c.(1837-1839)GCC>TCC p.A613S ADCY4_uc001wow.2_Missense_Mutation_p.A613S|ADCY4_uc010toh.1_Missense_Mutation_p.A299S|ADCY4_uc001wox.2_Missense_Mutation_p.A613S|ADCY4_uc001woy.2_Missense_Mutation_p.A613S NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 613 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) TACGTGATGGCCAGAGCTGGG 0.557 NA 6 33 0.00116845 0.00142685 0.001168 1 0 SLC35F4 341880 broad.mit.edu 37 14 58048020 58048020 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr14:58048020G>T uc001xdb.1 - 4 827 c.827C>A c.(826-828)ACG>AAG p.T276K SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.T117K NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 GGAGACATCCGTGGCCGTCAG 0.428 NA 12 32 1.08611e-07 1.70291e-07 0.000978 1 0 OR4N3P 390539 broad.mit.edu 37 15 22413843 22413843 + Silent SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr15:22413843C>T uc001yuf.2 + 1 142 c.142C>T c.(142-144)CTG>TTG p.L48L NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 CACCATCTGCCTGCCTCTGCA 0.507 NA 18 498 0 0 0.008871 0 0 OCA2 4948 broad.mit.edu 37 15 28326847 28326847 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr15:28326847C>A uc001zbh.3 - 2 284 c.174G>T c.(172-174)CAG>CAT p.Q58H OCA2_uc010ayv.2_Missense_Mutation_p.Q58H NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 58 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CCCAAGAGCTCTGCCCGGCAG 0.597 NA Oculocutaneous_Albinism 6 53 3.59834e-05 4.72747e-05 0.001168 1 0 TP53BP1 7158 broad.mit.edu 37 15 43748729 43748729 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr15:43748729G>A uc001zrs.2 - 12 2210 c.2062C>T c.(2062-2064)CCG>TCG p.P688S TP53BP1_uc010udp.1_Missense_Mutation_p.P688S|TP53BP1_uc001zrq.3_Missense_Mutation_p.P693S|TP53BP1_uc001zrr.3_Missense_Mutation_p.P693S|TP53BP1_uc010udq.1_Missense_Mutation_p.P693S NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 688 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) AGGTGCAACGGAACACTCTCC 0.453 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 11 132 0 0 0.001855 0 0 SLC24A5 283652 broad.mit.edu 37 15 48414087 48414087 + Nonsense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr15:48414087C>A uc001zwe.2 + 2 228 c.155C>A c.(154-156)TCG>TAG p.S52* SLC24A5_uc001zwd.2_Nonsense_Mutation_p.S52*|SLC24A5_uc010bel.2_Intron NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 52 Extracellular (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TCTCCATCATCGGAGTTTCCC 0.423 NA 6 117 3.59834e-05 4.72747e-05 0.001168 1 0 VPS13C 54832 broad.mit.edu 37 15 62302683 62302683 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr15:62302683C>A uc002agz.2 - 13 1073 c.999G>T c.(997-999)CTG>CTT p.L333L VPS13C_uc002aha.2_Silent_p.L290L|VPS13C_uc002ahb.1_Silent_p.L333L|VPS13C_uc002ahc.1_Silent_p.L290L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 333 protein localization ovary(2) 2 GAGGTTTGGTCAGTTCAATGG 0.383 NA 7 104 0.00307968 0.00367824 0.00308 1 0 LCTL 197021 broad.mit.edu 37 15 66857164 66857164 + Silent SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr15:66857164G>T uc002aqc.2 - 2 264 c.132C>A c.(130-132)GGC>GGA p.G44G LCTL_uc002aqd.3_Intron|LCTL_uc010bhw.2_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 44 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 AACTGCCCACGCCCCAGGAGA 0.662 NA 8 62 1.12685e-05 1.57264e-05 0.004482 1 0 AKAP13 11214 broad.mit.edu 37 15 86076960 86076960 + Missense_Mutation SNP T T G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr15:86076960T>G uc002blv.1 + 4 497 c.327T>G c.(325-327)AAT>AAG p.N109K AKAP13_uc002bls.2_Missense_Mutation_p.N109K|AKAP13_uc002blt.1_Missense_Mutation_p.N109K|AKAP13_uc002blu.1_Missense_Mutation_p.N109K NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 109 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GTGCTGGAAATCAGCAGGCTT 0.498 Melanoma(94;603 1453 3280 32295 32951) NA 5 106 0 0 0.000602 0 0 MEFV 4210 broad.mit.edu 37 16 3299593 3299593 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr16:3299593G>T uc002cun.1 - 3 1138 c.1098C>A c.(1096-1098)AGC>AGA p.S366R NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 366 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) GGGGGCTTAGGCTTCCCGGGC 0.647 NA 12 23 4.3838e-07 6.73479e-07 0.001855 1 0 PPL 5493 broad.mit.edu 37 16 4934298 4934298 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr16:4934298G>T uc002cyd.1 - 22 4448 c.4358C>A c.(4357-4359)CCG>CAG p.P1453Q NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 1453 Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 CGCCTGCTGCGGGTCCTGCTG 0.657 NA 15 106 0.000219431 0.000275919 0.00245 1 0 A2BP1 54715 broad.mit.edu 37 16 7760688 7760688 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr16:7760688C>A uc002cys.2 + 16 2123 c.1135C>A c.(1135-1137)CTT>ATT p.L379I A2BP1_uc002cyt.2_Missense_Mutation_p.L352I|A2BP1_uc010uyb.1_Missense_Mutation_p.L379I|A2BP1_uc002cyw.2_3'UTR|A2BP1_uc002cyy.2_Missense_Mutation_p.L400I|A2BP1_uc002cyx.2_Intron|A2BP1_uc010uyc.1_Missense_Mutation_p.L373I NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 379 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) GGGTCTCGTTCTTTCTTCATT 0.423 NA 38 106 3.62531e-18 6.90621e-18 0.004289 1 0 ITGAM 3684 broad.mit.edu 37 16 31283276 31283276 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr16:31283276G>T uc002ebq.2 + 7 765 c.667G>T c.(667-669)GGG>TGG p.G223W ITGAM_uc002ebr.2_Missense_Mutation_p.G223W NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 223 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 GCAGCTGCTTGGGCGGACACA 0.512 NA 10 117 3.86212e-05 5.02207e-05 0.008291 1 0 FHOD1 29109 broad.mit.edu 37 16 67265143 67265143 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr16:67265143G>C uc002esl.2 - 17 2727 c.2615C>G c.(2614-2616)CCT>CGT p.P872R FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.P679R NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 872 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AGAGGACTCAGGCCGGGTCTG 0.577 NA 13 39 0 0 0.001855 0 0 SNTB2 6645 broad.mit.edu 37 16 69279517 69279517 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr16:69279517G>A uc002ewu.2 + 2 613 c.593G>A c.(592-594)CGA>CAA p.R198Q NM_006750 NP_006741 Q13425 SNTB2_HUMAN basic beta 2 syntrophin 198 PH 1.|PDZ. cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) AAGTTCATCCGAGAAGTAACA 0.383 NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738) NA 6 211 0 0 0.004482 0 0 SPATA22 84690 broad.mit.edu 37 17 3352250 3352250 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:3352250G>A uc002fvm.2 - 6 760 c.523C>T c.(523-525)CTC>TTC p.L175F SPATA22_uc010vrg.1_Missense_Mutation_p.L159F|SPATA22_uc010vrf.1_Missense_Mutation_p.L175F|SPATA22_uc002fvn.2_Missense_Mutation_p.L175F|SPATA22_uc002fvo.2_Missense_Mutation_p.L175F|SPATA22_uc002fvp.2_Missense_Mutation_p.L175F|SPATA22_uc010ckf.2_Missense_Mutation_p.L132F NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 175 0 GTTTGTCTGAGTAGCTCGGTT 0.388 NA 8 261 0 0 0.004482 0 0 SLC13A5 284111 broad.mit.edu 37 17 6594199 6594199 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:6594199C>A uc002gdj.2 - 10 1424 c.1336G>T c.(1336-1338)GCA>TCA p.A446S SLC13A5_uc010vtf.1_Missense_Mutation_p.A446S|SLC13A5_uc010clq.2_Missense_Mutation_p.A403S|SLC13A5_uc002gdk.2_Missense_Mutation_p.A429S NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 446 Helical; (Potential). integral to membrane citrate transmembrane transporter activity 0 GTGATGGCTGCCGGGGGCACT 0.562 NA 7 103 2.0095e-06 2.9334e-06 0.001984 1 0 MYH1 4619 broad.mit.edu 37 17 10419891 10419891 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:10419891C>A uc002gmo.2 - 3 163 c.69G>T c.(67-69)GAG>GAT p.E23D uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 23 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CTTCAATTCGCTCCCTTTCAG 0.502 NA 28 130 1.16021e-09 1.97339e-09 0.007291 1 0 MAP2K3 5606 broad.mit.edu 37 17 21215469 21215469 + Missense_Mutation SNP C C A rs71371053 TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:21215469C>A uc002gys.2 + 10 1055 c.790C>A c.(790-792)CTG>ATG p.L264M MAP2K3_uc002gyt.2_Missense_Mutation_p.L235M|MAP2K3_uc002gyu.2_Missense_Mutation_p.L235M NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 264 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GATGGCCATCCTGCGGTTCCC 0.682 NA 5 33 0.00198382 0.00237684 0.001984 1 0 KCNJ12 3768 broad.mit.edu 37 17 21319630 21319630 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:21319630C>A uc002gyv.1 + 3 1681 c.976C>A c.(976-978)CGC>AGC p.R326S NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 326 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GTGGGGTCACCGCTTTGAGCC 0.587 NA Prostate(3;0.18) 6 179 0.00116845 0.00142685 0.001168 1 0 CCT6B 10693 broad.mit.edu 37 17 33259426 33259426 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:33259426C>A uc002hig.2 - 11 1401 c.1307G>T c.(1306-1308)GGA>GTA p.G436V CCT6B_uc010ctg.2_Missense_Mutation_p.G399V|CCT6B_uc010wcc.1_Missense_Mutation_p.G391V NM_006584 NP_006575 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B 436 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding pancreas(1) 1 Ovarian(249;0.17) AGCTTGGACTCCAAGACGAGC 0.408 NA 22 185 2.21704e-12 3.96568e-12 0.00278 1 0 GGNBP2 79893 broad.mit.edu 37 17 34937774 34937774 + Missense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:34937774A>T uc002hnb.2 + 9 1270 c.1021A>T c.(1021-1023)ATG>TTG p.M341L GGNBP2_uc002hna.2_Missense_Mutation_p.M341L|GGNBP2_uc002hnc.1_Missense_Mutation_p.M170L NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 341 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TTTATAATAGATGACCGTGGA 0.264 NA 10 61 0 0 0.008291 0 0 MRPL45 84311 broad.mit.edu 37 17 36455435 36455435 + Splice_Site SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:36455435G>T uc002hpy.2 + 3 514 c.362_splice c.e3+1 p.S121_splice NM_032351 NP_115727 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 precursor intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome 0 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CACAAGTGTCGTAGGTGTCTG 0.408 NA 8 63 4.68919e-08 7.57026e-08 0.008291 1 0 KRT40 125115 broad.mit.edu 37 17 39138576 39138576 + Nonsense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:39138576T>A uc010cxh.1 - 5 831 c.670A>T c.(670-672)AAG>TAG p.K224* KRT40_uc002hvq.1_RNA NM_182497 NP_872303 Q6A162 K1C40_HUMAN type I hair keratin KA36 224 Rod.|Coil 1B. intermediate filament structural molecule activity 0 Breast(137;0.00043) TGGTTTTTCTTAAGGCAAAGG 0.473 NA 11 96 0 0 0.000978 0 0 CCDC56 28958 broad.mit.edu 37 17 40948087 40948087 + Silent SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:40948087C>T uc010wgz.1 - 3 448 c.171G>A c.(169-171)AGG>AGA p.R57R 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) GAGAGGAGAACCTGGGAGAGC 0.537 NA 4 93 0 0 0.000602 0 0 APPBP2 10513 broad.mit.edu 37 17 58541402 58541402 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:58541402C>T uc002iys.1 - 6 1030 c.742G>A c.(742-744)GTC>ATC p.V248I APPBP2_uc010ddl.1_Missense_Mutation_p.V177I NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 248 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) TGTCTTAAGACATCCACCACA 0.294 NA 7 66 0 0 0.004482 0 0 KIF19 124602 broad.mit.edu 37 17 72338032 72338032 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:72338032C>A uc002jkm.3 + 3 276 c.138C>A c.(136-138)GAC>GAA p.D46E KIF19_uc002jkj.2_Missense_Mutation_p.D46E|KIF19_uc002jkk.2_Missense_Mutation_p.D46E|KIF19_uc002jkl.2_Missense_Mutation_p.D46E NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 46 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 TTCTCATGGACCCAATGGAGG 0.622 NA 18 93 7.07596e-05 9.07724e-05 0.006122 1 0 C17orf70 80233 broad.mit.edu 37 17 79517597 79517597 + Missense_Mutation SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:79517597T>C uc002kaq.2 - 3 978 c.923A>G c.(922-924)CAC>CGC p.H308R C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.H157R NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 308 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GCAGTCACAGTGCACATCCTC 0.607 NA 7 61 0 0 0.001984 0 0 DSG4 147409 broad.mit.edu 37 18 28980905 28980905 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr18:28980905C>G uc002kwq.2 + 10 1474 c.1339C>G c.(1339-1341)CAA>GAA p.Q447E DSG4_uc002kwr.2_Missense_Mutation_p.Q447E NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 447 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGGTGAGATACAATTTTCTAG 0.303 NA 3 81 0 0 0.004672 0 0 ZNF271 10778 broad.mit.edu 37 18 32887120 32887120 + Missense_Mutation SNP G G T rs142309584 TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr18:32887120G>T uc002kyq.3 + 3 1524 c.532G>T c.(532-534)GTT>TTT p.V178F ZNF271_uc002kyp.3_Missense_Mutation_p.V178F|ZNF271_uc002kyr.3_Missense_Mutation_p.V178F NR_024565 SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA; 0 TTTAGTCGCCGTTCAGATCTT 0.378 NA 10 157 1.58986e-06 2.39422e-06 0.008291 1 0 SETBP1 26040 broad.mit.edu 37 18 42532822 42532822 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr18:42532822C>G uc010dni.2 + 4 3813 c.3517C>G c.(3517-3519)CTT>GTT p.L1173V NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1173 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCTGAGTGGTCTTTTTGCAGG 0.542 NA Schinzel-Giedion_syndrome 7 66 0 0 0.001984 0 0 SLC14A2 8170 broad.mit.edu 37 18 43262466 43262466 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr18:43262466G>T uc010dnj.2 + 21 3066 c.2745G>T c.(2743-2745)CAG>CAT p.Q915H SLC14A2_uc002lbe.2_Missense_Mutation_p.Q915H NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 915 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CAAAGTATCAGGCCTACGATG 0.498 NA 6 92 1.06961e-07 1.68398e-07 0.00308 1 0 MYO5B 4645 broad.mit.edu 37 18 47421485 47421485 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr18:47421485C>G uc002leb.2 - 22 3159 c.2871G>C c.(2869-2871)ATG>ATC p.M957I MYO5B_uc002lea.2_Missense_Mutation_p.M98I NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 957 Potential. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) GCTCTACCTCCATGGTGTATG 0.547 NA 6 57 0 0 0.00308 0 0 CDH7 1005 broad.mit.edu 37 18 63492008 63492008 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr18:63492008G>T uc002ljz.2 + 6 1247 c.922G>T c.(922-924)GGC>TGC p.G308C CDH7_uc002lka.2_Missense_Mutation_p.G308C|CDH7_uc002lkb.2_Missense_Mutation_p.G308C NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 308 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TGATGGTTTGGGCATTTTTAA 0.368 NA 15 96 5.01169e-05 6.47273e-05 0.00499 1 0 NETO1 81832 broad.mit.edu 37 18 70417390 70417390 + Nonsense_Mutation SNP G G T rs139202022 by1000genomes TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr18:70417390G>T uc002lkw.2 - 9 1732 c.1448C>A c.(1447-1449)TCG>TAG p.S483* NETO1_uc002lkx.1_Nonsense_Mutation_p.S482*|NETO1_uc002lky.1_Nonsense_Mutation_p.S483* NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 483 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) AGCATCTTGCGAGTAGCTGTG 0.502 NA 10 59 0.000442599 0.00055108 0.006214 1 0 SHC2 25759 broad.mit.edu 37 19 425152 425152 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:425152C>A uc002loq.3 - 10 1254 c.1254G>T c.(1252-1254)CAG>CAT p.Q418H SHC2_uc002lop.3_Missense_Mutation_p.Q159H NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 418 CH1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGTCCAGACCCTGGGTGTTGA 0.682 NA 12 47 1.61879e-10 2.80345e-10 0.001368 1 0 SLC25A41 284427 broad.mit.edu 37 19 6427222 6427222 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:6427222C>T uc010dus.2 - 6 918 c.832G>A c.(832-834)GGG>AGG p.G278R KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Missense_Mutation_p.G140R NM_173637 NP_775908 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 278 transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 CTGGGGTCCCCCATATCCCTG 0.627 NA 6 25 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9066578 9066578 + Silent SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:9066578G>C uc002mkp.2 - 3 21072 c.20868C>G c.(20866-20868)ACC>ACG p.T6956T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6958 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 GGGAAATGCTGGTCTCTCTCA 0.448 NA 20 175 0 0 0.008871 0 0 ZNF317 57693 broad.mit.edu 37 19 9270789 9270789 + Splice_Site SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:9270789G>A uc002mku.2 + 7 744 c.469_splice c.e7-1 p.E157_splice ZNF317_uc002mkv.2_Splice_Site_p.E16_splice|ZNF317_uc002mkw.2_Splice_Site_p.E125_splice|ZNF317_uc002mkx.2_Splice_Site_p.E72_splice|ZNF317_uc002mky.2_Splice_Site_p.E40_splice NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTAACCAACAGGAAAGAGCCG 0.478 NA 5 74 0 0 0.000602 0 0 JAK3 3718 broad.mit.edu 37 19 17942109 17942109 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:17942109C>A uc002nhn.3 - 21 3006 c.2906G>T c.(2905-2907)GGC>GTC p.G969V JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.G969V NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 969 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 CTTAGCTAGGCCGAAGTCAGC 0.622 2 Mis acute megakaryocytic leukemia| 11 98 0.00136819 0.00166013 0.001368 1 0 ZNF536 9745 broad.mit.edu 37 19 30936068 30936068 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:30936068G>T uc002nsu.1 + 2 1737 c.1599G>T c.(1597-1599)ATG>ATT p.M533I ZNF536_uc010edd.1_Missense_Mutation_p.M533I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCATGGCCATGGAACATGGCT 0.602 NA 6 80 3.59834e-05 4.72747e-05 0.001168 1 0 WDR62 284403 broad.mit.edu 37 19 36580003 36580003 + Missense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:36580003A>T uc002odc.2 + 14 1923 c.1832A>T c.(1831-1833)CAG>CTG p.Q611L WDR62_uc002odd.2_Missense_Mutation_p.Q611L NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 611 WD 9. cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CGCAGTGCCCAGCAGGTAGGG 0.622 NA 7 21 0 0 0.001984 0 0 ZNF260 339324 broad.mit.edu 37 19 37005826 37005826 + Silent SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:37005826G>A uc002oee.1 - 4 1159 c.315C>T c.(313-315)CAC>CAT p.H105H ZNF260_uc002oed.1_Silent_p.H102H|ZNF260_uc010eey.1_Silent_p.H102H|ZNF260_uc002oef.1_Silent_p.H102H NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 105 C2H2-type 3. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) TCTCTCCAGTGTGATGTTTCT 0.378 NA 10 148 0 0 0.008291 0 0 RELB 5971 broad.mit.edu 37 19 45541024 45541024 + Silent SNP A A G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:45541024A>G uc002paj.1 + 13 1842 c.1716A>G c.(1714-1716)CTA>CTG p.L572L SFRS16_uc002pak.2_5'Flank|SFRS16_uc002pal.2_5'Flank|SFRS16_uc010xxh.1_5'Flank|SFRS16_uc002pam.2_5'Flank|SFRS16_uc002pan.1_5'Flank NM_006509 NP_006500 Q01201 RELB_HUMAN reticuloendotheliosis viral oncogene homolog B 572 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) GCGGCCTCCTATCCCCGGGGC 0.687 NA 6 41 0 0 0.001984 0 0 SLC6A16 28968 broad.mit.edu 37 19 49813408 49813408 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:49813408C>A uc002pmz.2 - 4 823 c.589G>T c.(589-591)GGC>TGC p.G197C SLC6A16_uc002pna.2_Missense_Mutation_p.G197C|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 197 Helical; Name=2; (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) AAGTACAGGCCGAGGATGAAG 0.522 NA 19 63 7.45023e-12 1.32025e-11 0.001523 1 0 NUP62 23636 broad.mit.edu 37 19 50413058 50413058 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:50413058C>A uc002pqx.2 - 2 111 c.7G>T c.(7-9)GGG>TGG p.G3W IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.G3W|NUP62_uc002pqz.2_Missense_Mutation_p.G3W|NUP62_uc002pra.2_Missense_Mutation_p.G3W|NUP62_uc002prb.2_Missense_Mutation_p.G3W|NUP62_uc002prc.2_Missense_Mutation_p.G3W NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 3 15 X 9 AA approximate repeats.|1. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AAATTAAACCCGCTCATGGCT 0.557 NA 6 25 2.0095e-06 2.9334e-06 0.001984 1 0 ZNF836 162962 broad.mit.edu 37 19 52658445 52658445 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:52658445C>A uc010ydi.1 - 5 2865 c.2491G>T c.(2491-2493)GAC>TAC p.D831Y ZNF836_uc010ydj.1_Missense_Mutation_p.D831Y NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 831 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAAGGTTTGTCCCCAGTATGC 0.388 NA 30 241 7.26314e-15 1.34988e-14 0.007291 1 0 FCAR 2204 broad.mit.edu 37 19 55385779 55385779 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:55385779G>A uc002qhr.1 + 1 231 c.34G>A c.(34-36)GTG>ATG p.V12M FCAR_uc002qhq.2_Missense_Mutation_p.V12M|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Translation_Start_Site|FCAR_uc010esi.1_5'UTR|FCAR_uc002qhu.1_Missense_Mutation_p.V12M|FCAR_uc002qhv.1_Missense_Mutation_p.V12M|FCAR_uc002qhw.1_Missense_Mutation_p.G12R|FCAR_uc002qhx.1_Missense_Mutation_p.G12R|FCAR_uc002qhy.1_Missense_Mutation_p.G12R|FCAR_uc002qhz.1_Missense_Mutation_p.G12R|FCAR_uc002qia.1_Missense_Mutation_p.G12S NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 12 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CCTGTGTCTTGGTGAGTTTCA 0.478 NA 11 80 0 0 0.000978 0 0 NLRP13 126204 broad.mit.edu 37 19 56443652 56443652 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:56443652G>T uc010ygg.1 - 1 51 c.26C>A c.(25-27)CCC>CAC p.P9H NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 9 DAPIN. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ACCACCGTTGGGGCAGGTGAT 0.498 NA 4 71 1.23904e-05 1.71041e-05 0.000602 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701419 56701419 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:56701419T>A uc010ygh.1 - 4 1265 c.1265A>T c.(1264-1266)CAC>CTC p.H422L NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 422 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGTGGACTCGTGGGCGAACCG 0.567 NA 4 67 0 0 0.000248 0 0 ZNF772 400720 broad.mit.edu 37 19 57985662 57985662 + Silent SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr19:57985662G>T uc002qot.2 - 5 711 c.450C>A c.(448-450)GGC>GGA p.G150G ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.G109G|ZNF772_uc010ygz.1_Silent_p.G38G|ZNF772_uc010yha.1_Silent_p.G96G|ZNF772_uc002qou.2_Silent_p.G38G NM_001024596 NP_001019767 Q68DY9 ZN772_HUMAN zinc finger protein 772 isoform 1 150 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) TTAAGACCAGGCCACATGTCC 0.483 Melanoma(5;289 436 14293 15924 30817) NA 8 95 0.000274275 0.000343746 0.004482 1 0 GREB1 9687 broad.mit.edu 37 2 11718443 11718443 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:11718443C>A uc002rbk.1 + 6 958 c.658C>A c.(658-660)CCC>ACC p.P220T GREB1_uc002rbl.2_Missense_Mutation_p.P220T|GREB1_uc002rbm.2_Missense_Mutation_p.P110T|GREB1_uc002rbn.1_Missense_Mutation_p.P220T NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 220 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCGGCAGATCCCCGCCAGTAC 0.582 Ovarian(39;850 945 2785 23371 33093) NA 37 159 1.13552e-05 1.57895e-05 0.002222 1 0 GREB1 9687 broad.mit.edu 37 2 11755257 11755257 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:11755257T>A uc002rbk.1 + 20 3463 c.3163T>A c.(3163-3165)TGC>AGC p.C1055S GREB1_uc002rbp.1_Missense_Mutation_p.C53S NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1055 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AAACTCCTCCTGCTTGGTGAG 0.542 Ovarian(39;850 945 2785 23371 33093) NA 4 61 0 0 0.000602 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656903 40656903 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:40656903C>A uc002rrx.2 - 1 542 c.518G>T c.(517-519)GGA>GTA p.G173V SLC8A1_uc002rry.2_Missense_Mutation_p.G173V|SLC8A1_uc002rrz.2_Missense_Mutation_p.G173V|SLC8A1_uc002rsa.2_Missense_Mutation_p.G173V|SLC8A1_uc002rsd.3_Missense_Mutation_p.G173V|SLC8A1_uc002rsb.1_Missense_Mutation_p.G173V|SLC8A1_uc010fan.1_Missense_Mutation_p.G173V|SLC8A1_uc002rsc.1_Missense_Mutation_p.G173V NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 173 Alpha-1.|Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGCAGCACTTCCCACGATGGT 0.468 NA 6 43 2.0095e-06 2.9334e-06 0.001984 1 0 PSME4 23198 broad.mit.edu 37 2 54122797 54122797 + Silent SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:54122797A>T uc002rxp.2 - 33 3821 c.3765T>A c.(3763-3765)ACT>ACA p.T1255T PSME4_uc010yop.1_Silent_p.T1141T|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.T630T|PSME4_uc010fbv.1_Silent_p.T399T NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1255 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTCTTGGTATAGTTTTGCTGT 0.403 NA 11 195 0 0 0.000978 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69053120 69053120 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:69053120C>A uc002seu.2 + 11 2096 c.1732C>A c.(1732-1734)CTT>ATT p.L578I ARHGAP25_uc010fdg.2_Missense_Mutation_p.L579I|ARHGAP25_uc010yql.1_Missense_Mutation_p.L539I|ARHGAP25_uc002sew.2_Missense_Mutation_p.L571I|ARHGAP25_uc002sex.2_Missense_Mutation_p.L572I|ARHGAP25_uc002sey.2_Missense_Mutation_p.L305I NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 578 Potential. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 TCCTTGTAGCCTTGAGAAGGA 0.443 NA 7 46 2.7689e-08 4.48915e-08 0.001984 1 0 ACTG2 72 broad.mit.edu 37 2 74129498 74129499 + Nonsense_Mutation DNP GG GG TT TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:74129498_74129499GG>TT uc002sjw.2 + 3 260_261 c.138_139GG>TT c.(136-141)GTGGGA>GTTTGA p.G47* ACTG2_uc010fex.1_Nonsense_Mutation_p.G47*|ACTG2_uc010fey.2_Nonsense_Mutation_p.G47*|ACTG2_uc010yrn.1_Intron NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 47 muscle contraction cytoskeleton|cytosol ATP binding 0 GTGTGATGGTGGGAATGGGCCA 0.5 NA 5 56 0 0 0.004672 0 0 REG1A 5967 broad.mit.edu 37 2 79349965 79349965 + Splice_Site SNP A A G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:79349965A>G uc002snz.2 + 5 425 c.322_splice c.e5-2 p.N108_splice REG1A_uc010ysd.1_Splice_Site_p.N108_splice NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TTCCCCATCTAGAACCGCCGC 0.547 NA 11 129 0 0 0.000978 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518100 84518100 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:84518100G>A uc010ffz.1 + 1 295 c.158G>A c.(157-159)GGT>GAT p.G53D NR_003663 RecName: Full=FUN14 domain-containing protein 2; AltName: Full=Hepatitis C virus core-binding protein 6; AltName: Full=Cervical cancer proto-oncogene 3 protein; Short=HCC-3; 0 TTCATTGGAGGTGTCACTGGA 0.502 NA 8 141 0 0 0.008291 0 0 ZRANB3 84083 broad.mit.edu 37 2 135988469 135988469 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:135988469C>G uc002tum.2 - 13 1685 c.1568G>C c.(1567-1569)CGA>CCA p.R523P ZRANB3_uc002tuk.2_Missense_Mutation_p.R66P|ZRANB3_uc002tul.2_Missense_Mutation_p.R523P NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 523 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) AAAAAATGATCGAATATCATG 0.348 NA 6 98 0 0 0.001168 0 0 ABCB11 8647 broad.mit.edu 37 2 169869807 169869807 + Missense_Mutation SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:169869807T>C uc002ueo.1 - 5 490 c.364A>G c.(364-366)AAC>GAC p.N122D NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 122 ABC transmembrane type-1 1.|Extracellular (Potential). bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TTTGTCATGTTCTGGTTGAGG 0.343 NA 89 280 0 0 0.00361 0 0 TTN 7273 broad.mit.edu 37 2 179395805 179395805 + Silent SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:179395805G>C uc010zfg.1 - 307 98057 c.97833C>G c.(97831-97833)ACC>ACG p.T32611T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T26306T|TTN_uc010zfi.1_Silent_p.T26239T|TTN_uc010zfj.1_Silent_p.T26114T|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33538 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTACTTTGTGGTGGTCACTT 0.498 NA 18 380 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179428039 179428039 + Missense_Mutation SNP A A C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:179428039A>C uc010zfg.1 - 275 75340 c.75116T>G c.(75115-75117)GTA>GGA p.V25039G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18734G|TTN_uc010zfi.1_Missense_Mutation_p.V18667G|TTN_uc010zfj.1_Missense_Mutation_p.V18542G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25966 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGACCTCTACAACATAGCC 0.468 NA 3 91 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179575972 179575972 + Missense_Mutation SNP A A C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:179575972A>C uc010zfg.1 - 94 24483 c.24259T>G c.(24259-24261)TCC>GCC p.S8087A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4748A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9014 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAAGACACGGAGATAGGTTCT 0.378 NA 59 223 0 0 0.00361 0 0 COL3A1 1281 broad.mit.edu 37 2 189839273 189839273 + Missense_Mutation SNP A A G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:189839273A>G uc002uqj.1 + 1 175 c.58A>G c.(58-60)ATT>GTT p.I20V NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 20 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TCATCCCACTATTATTTTGGC 0.413 NA 7 107 0 0 0.001984 0 0 COL5A2 1290 broad.mit.edu 37 2 189904155 189904155 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:189904155C>A uc002uqk.2 - 51 4043 c.3768G>T c.(3766-3768)GCG>GCT p.A1256A COL5A2_uc010frx.2_Silent_p.A832A NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1256 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CATCAGGAGCCGCCTGATCTT 0.527 NA 9 49 7.48243e-07 1.13127e-06 0.006214 1 0 PMS1 5378 broad.mit.edu 37 2 190660540 190660540 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:190660540G>T uc002urh.3 + 3 707 c.178G>T c.(178-180)GGT>TGT p.G60C PMS1_uc010zga.1_Missense_Mutation_p.G60C|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.3_Missense_Mutation_p.G60C|PMS1_uc002uri.3_Missense_Mutation_p.G60C|PMS1_uc010zgc.1_5'UTR|PMS1_uc010zgd.1_Intron|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.G60C|PMS1_uc010frz.2_Missense_Mutation_p.G60C|PMS1_uc010zfz.1_Missense_Mutation_p.G60C NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 60 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TAACGGGGAGGGTATCAAGGC 0.328 NA Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 7 72 2.0095e-06 2.9334e-06 0.001984 1 0 DNAH7 56171 broad.mit.edu 37 2 196718111 196718111 + Nonsense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:196718111C>A uc002utj.3 - 46 8838 c.8737G>T c.(8737-8739)GGA>TGA p.G2913* NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2913 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GCAACCACTCCGGAGGAAATG 0.512 NA 22 69 7.41877e-09 1.22894e-08 0.001882 1 0 RFTN2 130132 broad.mit.edu 37 2 198436886 198436886 + Missense_Mutation SNP C C G rs115896530 by1000genomes TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:198436886C>G uc002uuo.3 - 9 1754 c.1352G>C c.(1351-1353)CGC>CCC p.R451P NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 451 plasma membrane 0 GGGAGAAAGGCGGCACTCCTC 0.527 NA 5 111 0 0 0.001168 0 0 EEF1B2 1933 broad.mit.edu 37 2 207026077 207026077 + Nonsense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:207026077G>T uc002vbf.1 + 4 369 c.211G>T c.(211-213)GGA>TGA p.G71* NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Nonsense_Mutation_p.G71*|EEF1B2_uc002vbh.1_Nonsense_Mutation_p.G71*|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank NM_001037663 NP_001032752 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 71 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 AAGCCTGCCAGGAGTGAAGAA 0.373 NA 9 106 1.11149e-13 2.05572e-13 0.008291 1 0 EEF1B2 1933 broad.mit.edu 37 2 207026150 207026150 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:207026150G>C uc002vbf.1 + 4 442 c.284G>C c.(283-285)AGT>ACT p.S95T NDUFS1_uc010ziq.1_5'Flank|NDUFS1_uc002vbe.2_5'Flank|NDUFS1_uc010zir.1_5'Flank|NDUFS1_uc010zis.1_5'Flank|NDUFS1_uc010zit.1_5'Flank|NDUFS1_uc010ziu.1_5'Flank|EEF1B2_uc002vbg.1_Missense_Mutation_p.S95T|EEF1B2_uc002vbh.1_Missense_Mutation_p.S95T|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.2_5'Flank NM_001037663 NP_001032752 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 95 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 GCTACAGATAGTAAAGATGAT 0.363 NA 11 133 0 0 0.000978 0 0 ATIC 471 broad.mit.edu 37 2 216214301 216214301 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:216214301G>T uc002vex.3 + 16 1876 c.1702G>T c.(1702-1704)GAC>TAC p.D568Y ATIC_uc010zjo.1_Missense_Mutation_p.D509Y|ATIC_uc002vey.3_Missense_Mutation_p.D567Y NM_004044 NP_004035 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide 568 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1) 29 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) TTCTGCTGCTGACAAAGTTGT 0.473 NA T ALK ALCL 5 111 1.024e-07 1.6324e-07 0.000602 1 0 DNPEP 23549 broad.mit.edu 37 2 220246787 220246787 + Silent SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:220246787G>A uc010zlg.1 - 11 1117 c.1035C>T c.(1033-1035)TGC>TGT p.C345C DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Silent_p.C337C|DNPEP_uc002vlf.1_Silent_p.C323C|DNPEP_uc002vlh.2_Silent_p.C284C|DNPEP_uc002vli.1_Silent_p.C284C NM_012100 NP_036232 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 327 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) TCGGGTGCTGGCACGAGGCTG 0.592 NA 3 32 0 0 0.004672 0 0 SPEG 10290 broad.mit.edu 37 2 220354583 220354583 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr2:220354583G>C uc010fwg.2 + 36 8843 c.8843G>C c.(8842-8844)AGC>ACC p.S2948T NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2948 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGTCCCCGAAGCTCTCCCAGG 0.657 NA 3 43 0 0 0.004672 0 0 SNRPB 6628 broad.mit.edu 37 20 2446399 2446399 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr20:2446399C>A uc002wfz.1 - 3 385 c.222G>T c.(220-222)GGG>GGT p.G74G SNRPB_uc002wga.1_Silent_p.G74G|SNRPB_uc010zpv.1_5'UTR|SNRPB_uc002wgb.2_Silent_p.G74G|SNORD119_uc010gam.1_5'Flank NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 74 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|protein binding|RNA binding ovary(1) 1 CCAGATTCTCCCCTCGCAGCA 0.468 NA 6 71 5.9392e-07 9.05134e-07 0.001168 1 0 PLCB1 23236 broad.mit.edu 37 20 8717720 8717720 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr20:8717720G>T uc002wnb.2 + 20 2092 c.2089G>T c.(2089-2091)GTG>TTG p.V697L PLCB1_uc010zrb.1_Missense_Mutation_p.V596L|PLCB1_uc002wna.2_Missense_Mutation_p.V697L|PLCB1_uc002wnc.1_Missense_Mutation_p.V596L|PLCB1_uc002wnd.1_Missense_Mutation_p.V274L NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 697 C2. 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 TGGGACTTACGTGGAAGTAGA 0.358 NA 10 86 3.86212e-05 5.02207e-05 0.008291 1 0 CEP250 11190 broad.mit.edu 37 20 34091626 34091626 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr20:34091626G>C uc002xcm.2 + 31 6100 c.5429G>C c.(5428-5430)AGA>ACA p.R1810T CEP250_uc010zve.1_Missense_Mutation_p.R1178T NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 1810 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GAGGCCCAGAGAGCCCTAGCC 0.597 NA 10 44 0 0 0.006214 0 0 RALGAPB 57148 broad.mit.edu 37 20 37177415 37177415 + Nonsense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr20:37177415A>T uc002xiw.2 + 20 3243 c.2986A>T c.(2986-2988)AGA>TGA p.R996* RALGAPB_uc002xix.2_Nonsense_Mutation_p.R992*|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Nonsense_Mutation_p.R774* NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 996 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TCTTTTACCCAGAGGAGCAAA 0.408 NA 5 100 0 0 0.001168 0 0 C20orf20 55257 broad.mit.edu 37 20 61430905 61430905 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr20:61430905C>G uc002ydi.2 + 5 596 c.525C>G c.(523-525)GAC>GAG p.D175E NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN MRG-binding protein 175 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex 0 Breast(26;3.65e-08) AAGGCGCAGACAAGCGGAAGC 0.552 NA 4 84 0 0 0.000248 0 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr21:44524456G>A uc002zda.1 - 2 185 c.101C>T c.(100-102)TCT>TTT p.S34F U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 34 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTGCAACCGAGAGCACCTGTC 0.358 NA 8 22 0 0 0.006214 0 0 PCBP3 54039 broad.mit.edu 37 21 47359949 47359949 + Silent SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr21:47359949A>T uc002zhq.1 + 13 1040 c.915A>T c.(913-915)ATA>ATT p.I305I PCBP3_uc002zhp.1_Silent_p.I285I|PCBP3_uc002zhs.1_Silent_p.I279I|PCBP3_uc002zhr.1_Silent_p.I304I|PCBP3_uc002zht.1_Silent_p.I295I NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 305 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TCTAGCTAATAGGCTGCATAA 0.567 NA 5 77 0 0 0.000602 0 0 MICAL3 57553 broad.mit.edu 37 22 18387502 18387502 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr22:18387502C>T uc002zng.3 - 3 721 c.368G>A c.(367-369)CGC>CAC p.R123H MICAL3_uc011agl.1_Missense_Mutation_p.R123H|MICAL3_uc002znh.2_Missense_Mutation_p.R123H|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.R123H|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.R123H|MICAL3_uc011agm.1_Missense_Mutation_p.R123H NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 123 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) GACGTTGTTGCGGGAGAAGGC 0.527 NA 26 152 0 0 0.00632 0 0 PEX26 55670 broad.mit.edu 37 22 18562679 18562679 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr22:18562679C>A uc002znp.3 + 3 479 c.270C>A c.(268-270)ATC>ATA p.I90I TUBA8_uc002znr.2_5'UTR|PEX26_uc002znq.3_Silent_p.I90I|uc002zns.2_5'Flank|PEX26_uc002znt.2_Silent_p.I90I NM_017929 NP_060399 Q7Z412 PEX26_HUMAN peroxisome biogenesis factor 26 90 Cytoplasmic (Potential). protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding skin(1) 1 TTGTGGGGATCCAGGCCCTGG 0.527 NA 23 104 2.39556e-15 4.51837e-15 0.00278 1 0 TBX1 6899 broad.mit.edu 37 22 19752613 19752613 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr22:19752613G>T uc002zqb.2 + 6 946 c.817G>T c.(817-819)GTC>TTC p.V273F TBX1_uc002zqa.1_Missense_Mutation_p.V273F|TBX1_uc002zqc.2_Missense_Mutation_p.V273F NM_080646 NP_542377 O43435 TBX1_HUMAN T-box 1 isoform A 273 T-box. embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1) 2 Colorectal(54;0.0993) all_lung(157;3.05e-06) ATTCACCGCGGTCACTGCCTA 0.547 NA 4 52 8.12818e-05 0.000103228 0.001984 1 0 NEFH 4744 broad.mit.edu 37 22 29885226 29885226 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr22:29885226C>G uc003afo.2 + 4 1668 c.1597C>G c.(1597-1599)CCA>GCA p.P533A NEFH_uc003afp.2_5'Flank NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 533 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.|2. cell death|nervous system development neurofilament 0 GGCCAAGTCCCCAGAGAAGGA 0.552 NA 4 44 0 0 0.000248 0 0 MYH9 4627 broad.mit.edu 37 22 36684363 36684364 + Nonsense_Mutation DNP CC CC AA TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr22:36684363_36684364CC>AA uc003apg.2 - 34 5097_5098 c.4866_4867GG>TT c.(4864-4869)CTGGAG>CTTTAG p.E1623* NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1623 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 ATGTGCGCCTCCAGGTCCTTCA 0.658 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 9 74 0 0 0.004672 0 0 ZNF385D 79750 broad.mit.edu 37 3 21706497 21706497 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:21706497G>T uc003cce.2 - 2 454 c.46C>A c.(46-48)CTC>ATC p.L16I ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 16 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 AGGGCCGGGAGAGCAGGACTC 0.512 NA 8 24 1.76689e-08 2.88921e-08 0.006214 1 0 ARPP21 10777 broad.mit.edu 37 3 35833950 35833950 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:35833950C>A uc003cgb.2 + 19 2373 c.2109C>A c.(2107-2109)AAC>AAA p.N703K ARPP21_uc003cga.2_Missense_Mutation_p.N684K|ARPP21_uc011axy.1_Missense_Mutation_p.N704K|ARPP21_uc003cgf.2_Missense_Mutation_p.N539K|ARPP21_uc003cgg.2_Missense_Mutation_p.N226K NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 703 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 AGAGTCAGAACGTGATAAATA 0.463 NA 23 137 1.96895e-08 3.20585e-08 0.00278 1 0 SETD2 29072 broad.mit.edu 37 3 47158152 47158152 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:47158152C>A uc003cqs.2 - 4 4600 c.4547G>T c.(4546-4548)TGT>TTT p.C1516F SETD2_uc003cqv.2_Missense_Mutation_p.C1505F NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1516 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) ATCTTCCCCACATGCTATTTC 0.353 NA N|F|S|Mis clear cell renal carcinoma 16 119 2.23348e-06 3.24793e-06 0.004007 1 0 COL7A1 1294 broad.mit.edu 37 3 48617237 48617237 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:48617237C>A uc003ctz.2 - 57 5136 c.5135G>T c.(5134-5136)GGA>GTA p.G1712V MIR711_hsa-mir-711|MI0012488_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1712 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCTCCAGGTCCTGTGTCTAC 0.582 NA 5 67 3.59834e-05 4.72747e-05 0.001168 1 0 PDZRN3 23024 broad.mit.edu 37 3 73651529 73651529 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:73651529C>A uc003dpl.1 - 3 990 c.894G>T c.(892-894)CTG>CTT p.L298L NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 298 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CATGAATTTGCAGGCCTCCTT 0.433 NA 14 243 6.31663e-08 1.01119e-07 0.003163 1 0 NSUN3 63899 broad.mit.edu 37 3 93813893 93813893 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:93813893C>T uc003drl.1 + 5 754 c.638C>T c.(637-639)CCG>CTG p.P213L NM_022072 NP_071355 Q9H649 NSUN3_HUMAN NOL1/NOP2/Sun domain family, member 3 213 methyltransferase activity skin(1) 1 GTGGATGCTCCGTGTTCAAAT 0.408 NA 9 140 0 0 0.004482 0 0 OR5K1 26339 broad.mit.edu 37 3 98188926 98188926 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:98188926G>T uc003dsm.2 + 1 506 c.506G>T c.(505-507)TGT>TTT p.C169F NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 TTAGTTTTCTGTGGATCGAAT 0.398 NA 11 303 6.40141e-05 8.23965e-05 0.000978 1 0 MORC1 27136 broad.mit.edu 37 3 108698378 108698378 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:108698378G>T uc003dxl.2 - 24 2548 c.2461C>A c.(2461-2463)CTG>ATG p.L821M MORC1_uc011bhn.1_Missense_Mutation_p.L800M NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 821 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TTAGACTTCAGTTTTCTCACT 0.403 NA 6 150 0.00198382 0.00237684 0.001984 1 0 MORC1 27136 broad.mit.edu 37 3 108819311 108819311 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:108819311C>A uc003dxl.2 - 5 354 c.267G>T c.(265-267)CGG>CGT p.R89R MORC1_uc011bhn.1_Silent_p.R89R NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 89 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 AGGTTGACAGCCGTTTTTTGG 0.393 NA 11 121 2.80697e-09 4.67012e-09 0.000978 1 0 KIAA2018 205717 broad.mit.edu 37 3 113378249 113378249 + Silent SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:113378249A>T uc003eam.2 - 7 2691 c.2280T>A c.(2278-2280)CCT>CCA p.P760P KIAA2018_uc003eal.2_Silent_p.P704P NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 760 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 CTGTTGTCACAGGAGGTGCTG 0.393 NA 7 80 0 0 0.001984 0 0 C3orf1 51300 broad.mit.edu 37 3 119242481 119242481 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:119242481C>G uc003ecn.2 + 7 949 c.736C>G c.(736-738)CTC>GTC p.L246V C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 246 integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) TACTGAGCACCTCCCTGAGAA 0.348 NA 25 87 0 0 0.003954 0 0 STXBP5L 9515 broad.mit.edu 37 3 120959336 120959336 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:120959336C>G uc003eec.3 + 14 1522 c.1382C>G c.(1381-1383)CCA>CGA p.P461R STXBP5L_uc011bji.1_Missense_Mutation_p.P461R NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 461 WD 8. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) CAAACATATCCAGAAATTATT 0.333 NA 3 57 0 0 0.000248 0 0 COL29A1 256076 broad.mit.edu 37 3 130095427 130095427 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:130095427G>T uc010htj.1 + 3 909 c.415G>T c.(415-417)GTG>TTG p.V139L COL29A1_uc010hti.1_RNA NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 139 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen 0 CCCAATTTTGGTGGTCCTGGC 0.532 NA 3 22 0.004672 0.00546022 0.004672 1 0 PPM1L 151742 broad.mit.edu 37 3 160786690 160786690 + Silent SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:160786690C>T uc003fdr.2 + 4 929 c.828C>T c.(826-828)AAC>AAT p.N276N PPM1L_uc003fds.2_Silent_p.N97N|PPM1L_uc003fdt.2_Silent_p.N149N|PPM1L_uc010hwf.2_RNA NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 276 Cytoplasmic (Potential).|PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AAAATCTCAACGTGGTCATCC 0.517 Pancreas(86;250 1994 13715 43211) NA 5 77 0 0 0.000602 0 0 SI 6476 broad.mit.edu 37 3 164777707 164777707 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:164777707C>G uc003fei.2 - 10 1191 c.1129G>C c.(1129-1131)GAA>CAA p.E377Q NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 377 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATGCCAGCTTCCCGGTTTCTC 0.383 NA HNSCC(35;0.089) 31 501 0 0 0.003271 0 0 CLDN11 5010 broad.mit.edu 37 3 170140986 170140986 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:170140986G>T uc003fgx.2 + 2 464 c.262G>T c.(262-264)GCC>TCC p.A88S CLDN11_uc011bpt.1_Missense_Mutation_p.A88S|CLDN11_uc003fgy.2_Missense_Mutation_p.A4S NM_005602 NP_005593 O75508 CLD11_HUMAN claudin 11 88 Helical; (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(1) 1 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GATGATTGCTGCCTCGGTCCT 0.617 NA 17 155 5.35267e-07 8.19022e-07 0.007413 1 0 OSTN 344901 broad.mit.edu 37 3 190967879 190967879 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:190967879G>C uc011bsn.1 + 3 371 c.371G>C c.(370-372)GGT>GCT p.G124A NM_198184 NP_937827 P61366 OSTN_HUMAN osteocrin precursor 124 cell differentiation|multicellular organismal development|ossification hormone activity pancreas(1)|skin(1) 2 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) GATCGGATTGGTAGAAACCGG 0.353 NA 7 105 0 0 0.006214 0 0 MFI2 4241 broad.mit.edu 37 3 196749841 196749841 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:196749841T>A uc003fxk.3 - 5 744 c.631A>T c.(631-633)AGC>TGC p.S211C MFI2_uc003fxl.3_Missense_Mutation_p.S211C|MFI2_uc011bua.1_Silent_p.T183T NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 211 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) AAGGCCCCGCTGTAGTCGTAG 0.627 NA 5 93 0 0 0.000602 0 0 LYAR 55646 broad.mit.edu 37 4 4276496 4276496 + Nonsense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:4276496C>A uc011bvy.1 - 7 573 c.430G>T c.(430-432)GAA>TAA p.E144* LYAR_uc011bvx.1_Nonsense_Mutation_p.E27*|LYAR_uc003ght.2_Nonsense_Mutation_p.E144* NM_001145725 NP_001139197 Q9NX58 LYAR_HUMAN Ly1 antibody reactive homolog 144 nucleolus metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTGACTGGTTCCTTATCATTA 0.418 NA 6 94 8.12818e-05 0.000103228 0.001984 1 0 CCDC96 257236 broad.mit.edu 37 4 7043210 7043210 + Nonsense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:7043210C>A uc003gjv.2 - 1 1519 c.1456G>T c.(1456-1458)GAG>TAG p.E486* TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 486 0 CGCAGCCCCTCTCGGGCTTGC 0.557 NA 27 159 2.12542e-12 3.83784e-12 0.00632 1 0 SORCS2 57537 broad.mit.edu 37 4 7717039 7717039 + Splice_Site SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:7717039G>T uc003gkb.3 + 17 2252 c.2252_splice c.e17+1 p.G751_splice SORCS2_uc011bwi.1_Splice_Site_p.G579_splice NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 GCAGCCTTGGGTGAGTGTGGG 0.627 NA 3 45 0.004672 0.00546022 0.004672 1 0 GPR125 166647 broad.mit.edu 37 4 22425944 22425944 + Missense_Mutation SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:22425944T>C uc003gqm.1 - 11 1740 c.1475A>G c.(1474-1476)AAC>AGC p.N492S GPR125_uc010ieo.1_Missense_Mutation_p.N366S|GPR125_uc003gqn.1_Missense_Mutation_p.N266S|GPR125_uc003gqo.2_Missense_Mutation_p.N492S NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 492 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) CAACATGATGTTACTTGCAAT 0.458 NA 10 178 0 0 0.006214 0 0 ARAP2 116984 broad.mit.edu 37 4 36161127 36161127 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:36161127C>A uc003gsq.1 - 14 2781 c.2443G>T c.(2443-2445)GCT>TCT p.A815S NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 815 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GCACATAGAGCCTGGTCATTA 0.393 NA 7 57 0.00198382 0.00237684 0.001984 1 0 LRRC66 339977 broad.mit.edu 37 4 52862092 52862092 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:52862092C>A uc003gzi.2 - 4 1109 c.1096G>T c.(1096-1098)GGC>TGC p.G366C NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 366 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TCTTTTTTGCCGGCAGCCTGC 0.592 NA 3 37 0.004672 0.00546022 0.004672 1 0 SPATA18 132671 broad.mit.edu 37 4 52948665 52948665 + Nonsense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:52948665A>T uc003gzl.2 + 10 1746 c.1468A>T c.(1468-1470)AGA>TGA p.R490* SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Nonsense_Mutation_p.R458*|SPATA18_uc003gzk.1_Nonsense_Mutation_p.R490* NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 490 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TGTCACCAGGAGAGGGGCTTT 0.453 NA 8 138 0 0 0.006214 0 0 EPHA5 2044 broad.mit.edu 37 4 66230911 66230911 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:66230911C>T uc003hcy.2 - 12 2253 c.2060G>A c.(2059-2061)GGT>GAT p.G687D EPHA5_uc003hcx.2_Missense_Mutation_p.G619D|EPHA5_uc003hcz.2_Missense_Mutation_p.G665D|EPHA5_uc011cah.1_Missense_Mutation_p.G688D|EPHA5_uc011cai.1_Missense_Mutation_p.G666D|EPHA5_uc003hda.2_Missense_Mutation_p.G688D NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 687 ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ACAAACTTCACCAAATTCACC 0.353 NA TSP Lung(17;0.13) 7 94 0 0 0.001984 0 0 UGT2B10 7365 broad.mit.edu 37 4 69885531 69885531 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:69885531G>A uc011cao.1 - 4 594 c.458C>T c.(457-459)CCT>CTT p.P153L UGT2B10_uc011can.1_Intron P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 190 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TACGTAGGAAGGAGGGAAAAT 0.408 Melanoma(133;755 1763 25578 26334 46021) NA 6 136 0 0 0.001984 0 0 ANK2 287 broad.mit.edu 37 4 114264221 114264221 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:114264221C>A uc003ibe.3 + 34 4271 c.4171C>A c.(4171-4173)CCA>ACA p.P1391T ANK2_uc003ibd.3_Missense_Mutation_p.P1382T|ANK2_uc003ibf.3_Missense_Mutation_p.P1391T|ANK2_uc011cgc.1_Missense_Mutation_p.P567T|ANK2_uc003ibg.3_Missense_Mutation_p.P386T|ANK2_uc003ibh.3_Missense_Mutation_p.P65T|ANK2_uc011cgb.1_Missense_Mutation_p.P1406T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1358 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAACTTGGTACCATTAACTAA 0.333 NA 9 87 7.48243e-07 1.13127e-06 0.006214 1 0 ADAD1 132612 broad.mit.edu 37 4 123333934 123333934 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:123333934C>A uc003ieo.2 + 10 1451 c.1219C>A c.(1219-1221)CAG>AAG p.Q407K ADAD1_uc003iep.2_Missense_Mutation_p.Q396K|ADAD1_uc003ieq.2_Missense_Mutation_p.Q389K NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 407 A to I editase. Q -> R (in Ref. 1; BAC04125). multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TCATTTTATACAGCCAGTTTA 0.403 NA 14 153 5.01169e-05 6.47273e-05 0.00499 1 0 PCDH10 57575 broad.mit.edu 37 4 134072013 134072013 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:134072013G>C uc003iha.2 + 1 1544 c.718G>C c.(718-720)GTG>CTG p.V240L uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V240L NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 240 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CACCATCCGAGTGCTGGACTC 0.463 NA 8 73 0 0 0.004482 0 0 GALNTL6 442117 broad.mit.edu 37 4 172735814 172735814 + Nonsense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:172735814G>A uc003isv.2 + 2 819 c.83G>A c.(82-84)TGG>TAG p.W28* NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 28 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 GTTGGTCTCTGGTCTCTGTAC 0.483 NA 4 43 0 0 0.000248 0 0 ODZ3 55714 broad.mit.edu 37 4 183652148 183652149 + Missense_Mutation DNP CC CC AA TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr4:183652148_183652149CC>AA uc003ivd.1 + 15 2860_2861 c.2823_2824CC>AA c.(2821-2826)ACCCTA>ACAATA p.L942I ODZ3_uc003ive.1_Missense_Mutation_p.L348I NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 942 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TGATGGATACCCTAGTCATGAA 0.426 NA 7 62 0 0 0.004672 0 0 KIAA0947 23379 broad.mit.edu 37 5 5462198 5462198 + Silent SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:5462198G>A uc003jdm.3 + 13 2973 c.2751G>A c.(2749-2751)GAG>GAA p.E917E NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 917 ovary(1)|central_nervous_system(1) 2 ACATCACGGAGGTGGCTGCTG 0.398 NA 5 104 0 0 0.000602 0 0 SEMA5A 9037 broad.mit.edu 37 5 9063002 9063002 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:9063002G>T uc003jek.2 - 18 3227 c.2515C>A c.(2515-2517)CCA>ACA p.P839T NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 839 TSP type-1 5.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CACTTACCTGGGCAGGGCAAA 0.512 NA 22 65 1.85244e-09 3.1368e-09 0.00333 1 0 PRDM9 56979 broad.mit.edu 37 5 23522490 23522490 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:23522490G>A uc003jgo.2 + 7 768 c.586G>A c.(586-588)GAG>AAG p.E196K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 196 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGAGGTCAGCGAGCCGCAGGA 0.458 NA HNSCC(3;0.000094) 32 221 0 0 0.004878 0 0 RXFP3 51289 broad.mit.edu 37 5 33936931 33936931 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:33936931C>T uc003jic.1 + 1 443 c.86C>T c.(85-87)CCG>CTG p.P29L NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 29 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 AGTCTGGTCCCGGACCTTCTG 0.632 NA 10 82 0 0 0.000978 0 0 EGFLAM 133584 broad.mit.edu 37 5 38425138 38425138 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:38425138C>A uc003jlc.1 + 13 2078 c.1754C>A c.(1753-1755)GCC>GAC p.A585D EGFLAM_uc003jlb.1_Missense_Mutation_p.A585D|EGFLAM_uc003jle.1_Missense_Mutation_p.A351D|EGFLAM_uc003jlf.1_5'UTR NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 585 EGF-like 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) GCAATCAAAGCCGACTCCTAC 0.473 Colon(62;485 1295 3347 17454) NA 59 121 9.53978e-28 1.86393e-27 0.00361 1 0 ZNF131 7690 broad.mit.edu 37 5 43161516 43161516 + Silent SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:43161516G>T uc011cpw.1 + 5 573 c.537G>T c.(535-537)GTG>GTT p.V179V ZNF131_uc010ivl.1_Silent_p.V179V|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Silent_p.V179V|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 179 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCATTGAAGTGGAAGATGAAG 0.443 NA 5 99 3.59834e-05 4.72747e-05 0.001168 1 0 HMGCR 3156 broad.mit.edu 37 5 74655898 74655898 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:74655898G>T uc003kdp.2 + 19 2702 c.2546G>T c.(2545-2547)GGG>GTG p.G849V HMGCR_uc011cst.1_Missense_Mutation_p.G869V|HMGCR_uc003kdq.2_Missense_Mutation_p.G796V|HMGCR_uc010izo.2_Missense_Mutation_p.G119V|HMGCR_uc010izp.2_Missense_Mutation_p.G72V NM_000859 NP_000850 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 849 Catalytic. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) GTAATGGCTGGGGAATTGTCA 0.478 NA 11 112 3.86212e-05 5.02207e-05 0.008291 1 0 AGGF1 55109 broad.mit.edu 37 5 76342310 76342310 + Missense_Mutation SNP A A G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:76342310A>G uc003ket.2 + 6 1369 c.1009A>G c.(1009-1011)ACT>GCT p.T337A NM_018046 NP_060516 Q8N302 AGGF1_HUMAN angiogenic factor VG5Q 337 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) CACTGTTCCAACTAGTGGAAA 0.363 NA 43 146 0 0 0.002222 0 0 RASGRF2 5924 broad.mit.edu 37 5 80409612 80409612 + Silent SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:80409612T>C uc003kha.1 + 15 2343 c.2343T>C c.(2341-2343)ACT>ACC p.T781T RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 781 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CACCACACACTGGTCAGATAC 0.552 NA 6 62 0 0 0.001984 0 0 LOX 4015 broad.mit.edu 37 5 121409740 121409740 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:121409740G>T uc003ksu.2 - 4 1378 c.1003C>A c.(1003-1005)CAC>AAC p.H335N LOX_uc010jcp.2_Missense_Mutation_p.H38N|LOX_uc010jcq.2_Missense_Mutation_p.H38N|LOX_uc011cwk.1_Missense_Mutation_p.H105N|LOX_uc010jcr.2_Missense_Mutation_p.H38N NM_002317 NP_002308 P28300 LYOX_HUMAN lysyl oxidase preproprotein 335 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity lung(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) AATCGCCTGTGGTAGCCATAG 0.498 NA 24 254 3.28513e-13 6.01747e-13 0.003954 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215057 140215057 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:140215057C>A uc003lhq.2 + 1 1089 c.1089C>A c.(1087-1089)GCC>GCA p.A363A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.A363A NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 363 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAGGACGCCCAACCAGGTA 0.507 NSCLC(160;258 2013 5070 22440 28951) NA 8 170 0.00448238 0.00528727 0.004482 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604624 140604625 + Missense_Mutation DNP TC TC AA TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:140604624_140604625TC>AA uc003ljb.2 + 1 1547_1548 c.1547_1548TC>AA c.(1546-1548)CTC>CAA p.L516Q PCDHB14_uc011dal.1_Missense_Mutation_p.L363Q NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 516 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGTTTGCCCTCAGGTCGCTGG 0.678 Ovarian(141;50 1831 27899 33809 37648) NA 10 129 0 0 0.004672 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711999 140711999 + Missense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:140711999A>T uc003lji.1 + 1 1748 c.1748A>T c.(1747-1749)GAG>GTG p.E583V PCDHGA1_uc011dan.1_Missense_Mutation_p.E583V NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 583 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCCGCAGAGCCCGGCTAC 0.672 NA 11 120 0 0 0.000978 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774290 140774290 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:140774290C>A uc003lkd.1 + 1 2808 c.1910C>A c.(1909-1911)GCG>GAG p.A637E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A637E NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 637 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAGAGATGCGCTCAAGCAG 0.682 NA 6 38 0.00116845 0.00142685 0.001168 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140774680 140774680 + Missense_Mutation SNP A A C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:140774680A>C uc003lkd.1 + 1 3198 c.2300A>C c.(2299-2301)CAC>CCC p.H767P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.H767P NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 767 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGAAGAGTCACCTGATCTTT 0.507 NA 16 90 0 0 0.006122 0 0 RBM27 54439 broad.mit.edu 37 5 145665588 145665588 + Missense_Mutation SNP A A G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:145665588A>G uc003lnz.3 + 21 3344 c.3178A>G c.(3178-3180)AGA>GGA p.R1060G NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 1060 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding central_nervous_system(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCATGGCGAAGATGAAATCT 0.308 NA 5 68 0 0 0.000602 0 0 OR2J2 26707 broad.mit.edu 37 6 29141761 29141761 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:29141761G>T uc011dlm.1 + 1 451 c.349G>T c.(349-351)GTG>TTG p.V117L NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGTCCTACTGGTGGTGATGTC 0.488 NA 71 366 4.29146e-36 8.51586e-36 0.00361 1 0 HLA-DQA2 3118 broad.mit.edu 37 6 32712989 32712989 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:32712989G>A uc003obx.2 + 2 194 c.136G>A c.(136-138)GGC>AGC p.G46S NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 46 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGGTCCCTCTGGCCAGTACAC 0.498 NA 27 140 0 0 0.00632 0 0 DNAH8 1769 broad.mit.edu 37 6 38818065 38818065 + Silent SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:38818065A>T uc003ooe.1 + 36 5187 c.4587A>T c.(4585-4587)ATA>ATT p.I1529I NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGTCTTGGATAAAAATAATGC 0.363 NA 15 73 0 0 0.004007 0 0 FRS3 10817 broad.mit.edu 37 6 41740639 41740639 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:41740639C>A uc003orc.1 - 5 556 c.312G>T c.(310-312)CTG>CTT p.L104L NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 104 IRS-type PTB. fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGCACTGCATCAGATCCTGAA 0.527 NA 5 76 1.23904e-05 1.71041e-05 0.000602 1 0 PKHD1 5314 broad.mit.edu 37 6 51920529 51920529 + Splice_Site SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:51920529T>C uc003pah.1 - 19 1970 c.1694_splice c.e19-1 p.G565_splice PKHD1_uc003pai.2_Splice_Site_p.G565_splice NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CTTCTGGGCCTGGATGCAGTT 0.483 NA 4 25 0 0 0.000248 0 0 BAI3 577 broad.mit.edu 37 6 69349092 69349092 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:69349092G>T uc003pev.3 + 3 973 c.525G>T c.(523-525)TTG>TTT p.L175F BAI3_uc010kak.2_Missense_Mutation_p.L175F NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 175 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GTACTTGGTTGGAGAGCTGCT 0.423 NA 14 82 0.00316338 0.0037664 0.003163 1 0 GPRC6A 222545 broad.mit.edu 37 6 117127972 117127972 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:117127972C>G uc003pxj.1 - 3 918 c.896G>C c.(895-897)TGG>TCG p.W299S GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.W299S NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 299 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ACTAGCAATCCACATCTTATT 0.353 NA 5 73 0 0 0.000602 0 0 TAAR8 83551 broad.mit.edu 37 6 132874369 132874369 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:132874369G>T uc011ecj.1 + 1 538 c.538G>T c.(538-540)GTA>TTA p.V180L NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 180 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) GGAGGAATTAGTAAGTGCTCT 0.453 NA 51 227 4.78724e-31 9.45046e-31 0.00361 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599712 136599712 + Missense_Mutation SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:136599712T>C uc003qgx.1 - 4 560 c.307A>G c.(307-309)AGG>GGG p.R103G BCLAF1_uc003qgw.1_Missense_Mutation_p.R103G|BCLAF1_uc003qgy.1_Missense_Mutation_p.R101G|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R101G NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 103 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTAGGACTCCTAGAGTGCCTT 0.473 Colon(142;1534 1789 5427 7063 28491) NA 14 259 0 0 0.003163 0 0 MAP3K5 4217 broad.mit.edu 37 6 137018358 137018358 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:137018358T>A uc003qhc.2 - 5 1335 c.974A>T c.(973-975)CAG>CTG p.Q325L MAP3K5_uc011edk.1_Missense_Mutation_p.Q170L|MAP3K5_uc010kgw.1_Missense_Mutation_p.Q325L NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 325 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TCTTCTCACCTGGATATCTCT 0.393 NA 7 50 0 0 0.001984 0 0 TULP4 56995 broad.mit.edu 37 6 158923658 158923658 + Missense_Mutation SNP G G A rs143675661 TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr6:158923658G>A uc003qrf.2 + 13 4320 c.2963G>A c.(2962-2964)CGG>CAG p.R988Q TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 988 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GCTACCCTGCGGAGGAACAAC 0.711 NA 6 26 0 0 0.001168 0 0 HOXA1 3198 broad.mit.edu 37 7 27134270 27134270 + Missense_Mutation SNP A A T rs41311763 TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:27134270A>T uc003sye.2 - 2 891 c.797T>A c.(796-798)CTG>CAG p.L266Q HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 266 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 GTTGAGCTGCAGGGATGCAGC 0.567 NA 6 100 0 0 0.001984 0 0 POU6F2 11281 broad.mit.edu 37 7 39500186 39500186 + Silent SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:39500186G>C uc003thb.1 + 9 1485 c.1443G>C c.(1441-1443)CTG>CTC p.L481L NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 481 POU-specific. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 GGGTTAATCTGGAGGAGATCC 0.512 NA 6 24 0 0 0.001168 0 0 POM121L12 285877 broad.mit.edu 37 7 53104090 53104090 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:53104090C>A uc003tpz.2 + 1 742 c.726C>A c.(724-726)CCC>CCA p.P242P NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 242 0 GCCTCGGCCCCTGGAGCCTCA 0.647 NA 6 43 2.0095e-06 2.9334e-06 0.001984 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86526823 86526823 + Missense_Mutation SNP T T G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:86526823T>G uc011kha.1 - 19 2869 c.2684A>C c.(2683-2685)CAG>CCG p.Q895P KIAA1324L_uc003uif.1_Missense_Mutation_p.Q655P|KIAA1324L_uc011kgz.1_Missense_Mutation_p.Q781P|KIAA1324L_uc003uie.2_Missense_Mutation_p.Q728P NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 895 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) ATCCCTTACCTGAAATCCTCT 0.468 NA 5 106 0 0 0.000602 0 0 OR2AE1 81392 broad.mit.edu 37 7 99474394 99474394 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:99474394C>A uc003usc.1 - 1 263 c.263G>T c.(262-264)GGC>GTC p.G88V NM_001005276 NP_001005276 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AGATTTCTTGCCAGATAGGTA 0.463 NA 16 69 6.94344e-10 1.1863e-09 0.006122 1 0 ZAN 7455 broad.mit.edu 37 7 100388611 100388611 + Nonsense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:100388611G>T uc003uwj.2 + 41 7570 c.7405G>T c.(7405-7407)GGA>TGA p.G2469* ZAN_uc003uwk.2_Nonsense_Mutation_p.G2469*|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2469 VWFD 4.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGGCCTGTGCGGAAACTACGA 0.547 NA 4 10 2.56e-06 3.6806e-06 0.000248 1 0 SLC12A9 56996 broad.mit.edu 37 7 100457848 100457848 + Silent SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:100457848G>A uc003uwp.2 + 9 1354 c.1212G>A c.(1210-1212)CTG>CTA p.L404L SLC12A9_uc003uwq.2_Silent_p.L315L|SLC12A9_uc011kki.1_5'UTR|SLC12A9_uc003uwr.2_Silent_p.L140L|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_Silent_p.L140L|SLC12A9_uc003uwv.2_5'UTR NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 404 Helical; (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CTTGGGGCCTGGTGCAGGTGA 0.567 NA 8 37 0 0 0.00308 0 0 MUC17 140453 broad.mit.edu 37 7 100680748 100680748 + Silent SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:100680748C>T uc003uxp.1 + 3 6104 c.6051C>T c.(6049-6051)ACC>ACT p.T2017T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2017 Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTCCTGCCACCACTTCTACTG 0.522 NA 36 298 0 0 0.00361 0 0 CBLL1 79872 broad.mit.edu 37 7 107399240 107399240 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:107399240C>T uc003veq.2 + 6 1423 c.1093C>T c.(1093-1095)CCT>TCT p.P365S CBLL1_uc011kme.1_Missense_Mutation_p.P244S|CBLL1_uc011kmf.1_Missense_Mutation_p.P364S NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Cas-Br-M (murine) ecotropic retroviral 365 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|skin(2)|lung(1) 5 TGCAGGTACTCCTCACTTGGT 0.527 NA 14 257 0 0 0.00499 0 0 LRRN3 54674 broad.mit.edu 37 7 110763529 110763529 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:110763529G>C uc003vft.3 + 4 1747 c.701G>C c.(700-702)GGA>GCA p.G234A IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.G234A|LRRN3_uc003vfs.3_Missense_Mutation_p.G234A NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 234 Extracellular (Potential).|LRR 7. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GCCTTGGTTGGACTGGAAAAC 0.363 NA 21 70 0 0 0.008871 0 0 ZNF277 11179 broad.mit.edu 37 7 111970197 111970197 + Missense_Mutation SNP A A G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:111970197A>G uc003vge.2 + 7 856 c.727A>G c.(727-729)ATG>GTG p.M243V ZNF277_uc003vgd.2_Missense_Mutation_p.M243V|ZNF277_uc003vgf.2_Missense_Mutation_p.M165V|ZNF277_uc003vgg.2_Missense_Mutation_p.M68V NM_021994 NP_068834 Q9NRM2 ZN277_HUMAN zinc finger protein (C2H2 type) 277 243 C2H2-type 1. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(2) 4 TAAAGATCACATGAGGAAAAA 0.323 NA 7 39 0 0 0.00308 0 0 SPAM1 6677 broad.mit.edu 37 7 123594320 123594320 + Silent SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:123594320C>T uc003vld.2 + 4 1098 c.696C>T c.(694-696)CCC>CCT p.P232P SPAM1_uc003vle.2_Silent_p.P232P|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.P232P|SPAM1_uc010lku.2_Silent_p.P232P NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 232 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) ATAAGAAACCCGGTTACAATG 0.368 NA 17 106 0 0 0.004007 0 0 AKR1D1 6718 broad.mit.edu 37 7 137790082 137790082 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:137790082G>C uc003vtz.2 + 5 555 c.486G>C c.(484-486)TTG>TTC p.L162F AKR1D1_uc011kqb.1_Missense_Mutation_p.L162F|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_RNA|AKR1D1_uc011kqe.1_Missense_Mutation_p.L162F|AKR1D1_uc011kqf.1_Intron|AKR1D1_uc010lmy.1_RNA NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 162 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 ACGCTGGCTTGGTGAAATCCC 0.488 NA 36 180 0 0 0.003271 0 0 MGAM 8972 broad.mit.edu 37 7 141752752 141752752 + Missense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:141752752A>T uc003vwy.2 + 26 3181 c.3127A>T c.(3127-3129)ACT>TCT p.T1043S NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1043 Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCTGGATGTCACTTACCATAA 0.458 NA 9 73 0 0 0.004482 0 0 EPHB6 2051 broad.mit.edu 37 7 142564758 142564758 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:142564758G>T uc011kst.1 + 11 2469 c.1682G>T c.(1681-1683)CGG>CTG p.R561L EPHB6_uc011ksu.1_Missense_Mutation_p.R561L|EPHB6_uc003wbs.2_Missense_Mutation_p.R269L|EPHB6_uc003wbt.2_Missense_Mutation_p.R35L|EPHB6_uc003wbu.2_Missense_Mutation_p.R269L|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 561 Fibronectin type-III 2.|Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) TTCCAGGTGCGGGCCCGGACT 0.622 NA 8 54 0.00448238 0.00528727 0.004482 1 0 C7orf34 135927 broad.mit.edu 37 7 142637620 142637620 + Silent SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:142637620G>C uc003wca.2 + 2 431 c.390G>C c.(388-390)GGG>GGC p.G130G NM_178829 NP_849151 Q96L11 CG034_HUMAN hypothetical protein LOC135927 105 extracellular region 0 Melanoma(164;0.059) TCTCAGGAGGGCCATTGAGGC 0.537 NA 10 138 0 0 0.006214 0 0 OR2F2 135948 broad.mit.edu 37 7 143632883 143632883 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:143632883G>T uc011ktv.1 + 1 558 c.558G>T c.(556-558)AGG>AGT p.R186S NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CTGTGGTCAGGCTGGCTTGTG 0.488 NA 5 103 0.00116845 0.00142685 0.001168 1 0 OR2F2 135948 broad.mit.edu 37 7 143633190 143633190 + Missense_Mutation SNP A A C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:143633190A>C uc011ktv.1 + 1 865 c.865A>C c.(865-867)ATT>CTT p.I289L NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) GAACCCTGTGATTTATAGTCT 0.443 NA 9 91 0 0 0.004482 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829427 146829427 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:146829427C>A uc003weu.1 + 8 1690 c.1174C>A c.(1174-1176)CAG>AAG p.Q392K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 392 Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACGGCTTAACCAGGACCTGTT 0.468 NA HNSCC(39;0.1) 21 130 2.4624e-09 4.13292e-09 0.008871 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147259256 147259256 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:147259256T>A uc003weu.1 + 12 2320 c.1804T>A c.(1804-1806)TAC>AAC p.Y602N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 602 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTGTGAAGCCTACAAACACCT 0.453 NA HNSCC(39;0.1) 8 60 0 0 0.00308 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914435 147914435 + Silent SNP A A G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:147914435A>G uc003weu.1 + 19 3582 c.3066A>G c.(3064-3066)CCA>CCG p.P1022P NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1022 Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTCAGGCACCAGCAACAAATG 0.493 NA HNSCC(39;0.1) 18 93 0 0 0.006122 0 0 KRBA1 84626 broad.mit.edu 37 7 149425649 149425649 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:149425649G>A uc003wfz.2 + 12 1909 c.1510G>A c.(1510-1512)GAG>AAG p.E504K KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.E172K NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 504 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCAGGGTCTGGAGAATTGTCT 0.582 NA 9 152 0 0 0.001368 0 0 MLL3 58508 broad.mit.edu 37 7 152008931 152008931 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr7:152008931C>G uc003wla.2 - 5 910 c.691G>C c.(691-693)GTT>CTT p.V231L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 231 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGAAGCCCAACCAGACTGAGT 0.413 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 16 89 0 0 0.00499 0 0 RP1L1 94137 broad.mit.edu 37 8 10467307 10467307 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:10467307C>A uc003wtc.2 - 4 4530 c.4301G>T c.(4300-4302)AGA>ATA p.R1434I NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1434 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GGCAGAGGCTCTTCCTGCTTC 0.627 NA 10 373 2.17888e-05 2.96483e-05 0.006214 1 0 PSD3 23362 broad.mit.edu 37 8 18393390 18393390 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:18393390C>A uc003wza.2 - 16 3110 c.3007G>T c.(3007-3009)GCA>TCA p.A1003S PSD3_uc003wyx.3_Missense_Mutation_p.A332S|PSD3_uc003wyy.2_Missense_Mutation_p.A469S|PSD3_uc003wyz.2_Missense_Mutation_p.A304S NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 1004 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TTCAGTCCTGCAGCCTCGCTT 0.498 NA 7 102 1.06961e-07 1.68398e-07 0.00308 1 0 REEP4 80346 broad.mit.edu 37 8 21996976 21996976 + Silent SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:21996976G>T uc003xau.1 - 5 823 c.370C>A c.(370-372)CGG>AGG p.R124R REEP4_uc010ltt.1_Silent_p.R124R|REEP4_uc011kyz.1_Silent_p.R124R NM_025232 NP_079508 Q9H6H4 REEP4_HUMAN receptor accessory protein 4 124 integral to membrane skin(1) 1 Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993) TTGAGGCCCCGCTTCCCGAAG 0.662 NA 8 36 0.00448238 0.00528727 0.004482 1 0 NRG1 3084 broad.mit.edu 37 8 32463156 32463156 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:32463156G>A uc003xiv.2 + 3 872 c.355G>A c.(355-357)GGA>AGA p.G119R NRG1_uc003xip.2_Missense_Mutation_p.G334R|NRG1_uc003xir.2_Missense_Mutation_p.G119R|NRG1_uc010lvl.2_Missense_Mutation_p.G119R|NRG1_uc010lvm.2_Missense_Mutation_p.G119R|NRG1_uc010lvn.2_Missense_Mutation_p.G119R|NRG1_uc003xis.2_Missense_Mutation_p.G119R|NRG1_uc011lbf.1_Missense_Mutation_p.G119R|NRG1_uc010lvo.2_Missense_Mutation_p.G119R|NRG1_uc003xiu.2_Missense_Mutation_p.G119R|NRG1_uc003xiw.2_Missense_Mutation_p.G119R|NRG1_uc003xit.2_Missense_Mutation_p.G119R|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.G85R|NRG1_uc010lvq.2_Missense_Mutation_p.G85R|NRG1_uc003xix.2_Missense_Mutation_p.G9R NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 119 Extracellular (Potential).|Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CAGCAAATTAGGAAATGACAG 0.408 NA 4 91 0 0 0.000248 0 0 RNF5P1 286140 broad.mit.edu 37 8 38458672 38458672 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:38458672C>T uc003xly.2 - 1 104 c.47G>A c.(46-48)CGC>CAC p.R16H NR_003129 SubName: Full=Putative uncharacterized protein RNF5; 0 GCCCCGCTCGCGATTTGGCCC 0.617 NA 4 30 0 0 0.000248 0 0 ANK1 286 broad.mit.edu 37 8 41550708 41550708 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:41550708G>T uc003xok.2 - 30 3628 c.3544C>A c.(3544-3546)CAA>AAA p.Q1182K NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.Q498K|ANK1_uc003xoi.2_Missense_Mutation_p.Q1182K|ANK1_uc003xoj.2_Missense_Mutation_p.Q1182K|ANK1_uc003xol.2_Missense_Mutation_p.Q1182K|ANK1_uc003xom.2_Missense_Mutation_p.Q1223K NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1182 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CACTGGGCTTGGTCTGTTCCT 0.527 NA 7 69 5.18039e-06 7.33728e-06 0.00308 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766156 77766156 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:77766156G>T uc003yav.2 + 10 7251 c.6864G>T c.(6862-6864)AAG>AAT p.K2288N ZFHX4_uc003yau.1_Missense_Mutation_p.K2333N|ZFHX4_uc003yaw.1_Missense_Mutation_p.K2288N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2288 C2H2-type 15; degenerate. 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) ATCAGAAAAAGCAGTGTTACA 0.423 NA HNSCC(33;0.089) 18 115 6.33239e-15 1.18849e-14 0.001523 1 0 PGCP 10404 broad.mit.edu 37 8 97892129 97892129 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:97892129G>T uc003yhw.2 + 4 911 c.745G>T c.(745-747)GGG>TGG p.G249W PGCP_uc010mbe.2_Missense_Mutation_p.G249W NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 249 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) GGCTTCTCATGGGATCAAAAT 0.453 NA 33 243 7.11191e-15 1.32825e-14 0.002836 1 0 VPS13B 157680 broad.mit.edu 37 8 100520069 100520069 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:100520069G>T uc003yiv.2 + 28 4340 c.4229G>T c.(4228-4230)AGA>ATA p.R1410I VPS13B_uc003yiw.2_Intron|VPS13B_uc003yiu.1_3'UTR|VPS13B_uc003yix.1_Missense_Mutation_p.R880I NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1410 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAGCTGAACAGACGCACCTTG 0.463 Colon(161;2205 2542 7338 31318) NA 7 81 2.0095e-06 2.9334e-06 0.001984 1 0 ANGPT1 284 broad.mit.edu 37 8 108306234 108306234 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:108306234C>A uc003ymn.2 - 6 1436 c.968G>T c.(967-969)GGT>GTT p.G323V ANGPT1_uc011lhv.1_Missense_Mutation_p.G123V|ANGPT1_uc003ymo.2_Missense_Mutation_p.G322V|ANGPT1_uc003ymp.3_Missense_Mutation_p.G122V NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 323 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TACAGTCCAACCTCCCCCATT 0.343 NA 5 97 0.00198382 0.00237684 0.001984 1 0 CSMD3 114788 broad.mit.edu 37 8 114448979 114448979 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:114448979C>A uc003ynu.2 - 1 264 c.105G>T c.(103-105)ATG>ATT p.M35I CSMD3_uc011lhx.1_Missense_Mutation_p.M35I|CSMD3_uc010mcx.1_Missense_Mutation_p.M35I|CSMD3_uc003ynx.3_Missense_Mutation_p.M35I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 35 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCATTTTCTTCATCAGGATGA 0.502 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 168 3.51602e-12 6.25982e-12 0.008871 1 0 TG 7038 broad.mit.edu 37 8 133882039 133882039 + Missense_Mutation SNP T T C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:133882039T>C uc003ytw.2 + 3 283 c.242T>C c.(241-243)CTG>CCG p.L81P NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 81 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGTGAAGTGCTGGGCAGCAGG 0.627 NA 3 52 0 0 0.004672 0 0 FAM135B 51059 broad.mit.edu 37 8 139151231 139151231 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:139151231G>C uc003yuy.2 - 18 4070 c.3899C>G c.(3898-3900)ACA>AGA p.T1300R FAM135B_uc003yux.2_Missense_Mutation_p.T1201R|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1300 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCACTGACCTGTTTTTTGGCT 0.443 NA HNSCC(54;0.14) 15 61 0 0 0.003163 0 0 TSTA3 7264 broad.mit.edu 37 8 144698279 144698279 + Silent SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:144698279G>A uc003yza.2 - 3 294 c.258C>T c.(256-258)TTC>TTT p.F86F TSTA3_uc003yzb.2_Silent_p.F86F|TSTA3_uc011lko.1_Silent_p.F86F NM_003313 NP_003304 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 86 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity pancreas(1) 1 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) NADH(DB00157) CACTTACCCAGAAGTCCAAAT 0.567 NA 4 45 0 0 0.000248 0 0 TESK1 7016 broad.mit.edu 37 9 35606261 35606261 + Silent SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr9:35606261A>T uc003zxa.2 + 3 705 c.369A>T c.(367-369)GGA>GGT p.G123G TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_5'UTR NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 123 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGCACCAGGGACAGCTGCACG 0.562 NA 8 71 0 0 0.006214 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625022 43625022 + Missense_Mutation SNP G G T rs150951585 by1000genomes TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr9:43625022G>T uc011lrb.1 - 4 3694 c.3665C>A c.(3664-3666)GCG>GAG p.A1222E NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1222 integral to membrane 0 GGCATGGTGCGCATGGCAAAG 0.493 NA 27 551 1.13719e-10 1.9784e-10 0.008361 1 0 TRPM6 140803 broad.mit.edu 37 9 77377968 77377968 + Nonsense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr9:77377968G>A uc004ajl.1 - 26 3857 c.3619C>T c.(3619-3621)CAG>TAG p.Q1207* TRPM6_uc004ajk.1_Nonsense_Mutation_p.Q1202*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.Q163* NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1207 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TGTCCCACCTGGCTGTCCAAA 0.483 NA 16 96 0 0 0.004007 0 0 SEMA4D 10507 broad.mit.edu 37 9 92002517 92002517 + Missense_Mutation SNP C C T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr9:92002517C>T uc004aqo.1 - 14 1686 c.1114G>A c.(1114-1116)GAC>AAC p.D372N SEMA4D_uc011ltm.1_Missense_Mutation_p.D372N|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.D370N NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 372 Sema.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 GCCTCGCTGTCGATGCACTGC 0.572 NA 5 55 0 0 0.001168 0 0 PRPF4 9128 broad.mit.edu 37 9 116041389 116041389 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr9:116041389G>T uc004bgx.2 + 3 423 c.373G>T c.(373-375)GGT>TGT p.G125C PRPF4_uc004bgy.2_Missense_Mutation_p.G124C NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 125 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding p.G125S(1) ovary(2)|pancreas(1) 3 TTTTGGAGAGGGTCCTGCTGA 0.418 NA 9 59 3.09899e-07 4.78022e-07 0.004482 1 0 NAIF1 203245 broad.mit.edu 37 9 130829231 130829231 + Silent SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr9:130829231G>A uc004bta.2 - 1 369 c.150C>T c.(148-150)GGC>GGT p.G50G NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank NM_197956 NP_931045 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 50 Required for nuclear localization and apoptosis-inducing activity. apoptosis|induction of apoptosis nucleus 0 TTCTCAGGATGCCGTGCCAGG 0.622 NA 16 80 0 0 0.003163 0 0 MXRA5 25878 broad.mit.edu 37 X 3235811 3235811 + Nonsense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:3235811C>A uc004crg.3 - 6 6068 c.5911G>T c.(5911-5913)GAG>TAG p.E1971* NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1971 Ig-like C2-type 4. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCCAGACACTCCATTGCAATG 0.587 NA 4 73 0.000602214 0.000744947 0.000602 1 0 STS 412 broad.mit.edu 37 X 7175602 7175602 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:7175602G>T uc004cry.3 + 4 615 c.370G>T c.(370-372)GAT>TAT p.D124Y NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 124 Lumenal. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity p.D124N(1) central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GCTTCTGAAGGATCAAGGTTA 0.483 NA Ichthyosis 7 184 0.000157383 0.000198553 0.00308 1 0 VCX3B 425054 broad.mit.edu 37 X 8433568 8433568 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:8433568C>A uc010ndo.2 + 2 384 c.77C>A c.(76-78)CCG>CAG p.P26Q VCX3B_uc011mht.1_Missense_Mutation_p.P26Q|VCX3B_uc004csd.1_Missense_Mutation_p.P26Q NM_001001888 NP_001001888 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 26 nucleolus 0 TCCTCTCAGCCGAGCCCCAGT 0.607 NA 13 94 1.02788e-11 1.80472e-11 0.00499 1 0 WWC3 55841 broad.mit.edu 37 X 10092351 10092351 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:10092351G>C uc004csx.3 + 13 1996 c.1798G>C c.(1798-1800)GGA>CGA p.G600R WWC3_uc010nds.2_Missense_Mutation_p.G264R|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 600 ovary(4) 4 GGCCAGTAACGGAGATCCCCA 0.607 NA 7 65 0 0 0.001984 0 0 PRPS2 5634 broad.mit.edu 37 X 12828215 12828215 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:12828215C>A uc004cvb.2 + 4 604 c.480C>A c.(478-480)GCC>GCA p.A160A PRPS2_uc004cva.2_Silent_p.A163A|PRPS2_uc010nec.2_Silent_p.A96A NM_002765 NP_002756 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 160 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity 0 AAAACATTGCCGAGTGGAAGA 0.468 NA 9 119 1.76689e-08 2.88921e-08 0.006214 1 0 CNKSR2 22866 broad.mit.edu 37 X 21627613 21627613 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:21627613G>C uc004czx.1 + 20 2606 c.2570G>C c.(2569-2571)TGT>TCT p.C857S CNKSR2_uc004czw.2_Missense_Mutation_p.C857S|CNKSR2_uc011mjn.1_Missense_Mutation_p.C808S|CNKSR2_uc011mjo.1_Missense_Mutation_p.C827S|CNKSR2_uc004czy.2_Missense_Mutation_p.C449S NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 857 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AACCATTGCTGTCTGAATGCT 0.413 NA 4 125 0 0 0.000248 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27765783 27765783 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:27765783G>C uc011mjy.1 + 1 858 c.771G>C c.(769-771)TGG>TGC p.W257C NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 TGTGGGACTGGGTGCGGCAGA 0.517 NA 7 28 0 0 0.001984 0 0 FTHL17 53940 broad.mit.edu 37 X 31089982 31089982 + Missense_Mutation SNP T T A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:31089982T>A uc004dcl.1 - 1 192 c.89A>T c.(88-90)TAC>TTC p.Y30F NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 30 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 GTAGGAGGTGTAGAGCTCCAG 0.622 NA 4 81 0 0 0.000248 0 0 FAM47A 158724 broad.mit.edu 37 X 34148334 34148334 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:34148334C>A uc004ddg.2 - 1 2095 c.2062G>T c.(2062-2064)GCA>TCA p.A688S NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 688 ovary(4)|central_nervous_system(1) 5 ACACGCTGTGCGGTATAAGAA 0.438 NA 6 136 2.0095e-06 2.9334e-06 0.001984 1 0 CXorf59 286464 broad.mit.edu 37 X 36162711 36162711 + Missense_Mutation SNP G G C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:36162711G>C uc004ddk.1 + 11 1480 c.1294G>C c.(1294-1296)GCA>CCA p.A432P NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 432 integral to membrane central_nervous_system(1) 1 ggagatggatgcaggagtcag 0 NA 4 173 0 0 0.000248 0 0 SYTL5 94122 broad.mit.edu 37 X 37969676 37969676 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:37969676C>A uc004ddu.2 + 14 2071 c.1537C>A c.(1537-1539)CCT>ACT p.P513T SYTL5_uc004ddv.2_Missense_Mutation_p.P513T|SYTL5_uc004ddx.2_Missense_Mutation_p.P535T NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 513 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 AGTAGAGATTCCTTTTGACTC 0.443 NA 12 147 0.00010058 0.000127312 0.001368 1 0 SSX5 6758 broad.mit.edu 37 X 48053613 48053613 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:48053613C>A uc004dja.1 - 4 285 c.232G>T c.(232-234)GAC>TAC p.D78Y SSX5_uc004diz.1_Missense_Mutation_p.D119Y NM_175723 NP_783729 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 isoform b 78 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 CCCTGGAAGTCTGCGACCCGT 0.448 NA 14 225 9.31168e-06 1.31398e-05 0.001855 1 0 Unknown 0 broad.mit.edu 37 X 48159066 48159066 + Splice_Site SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:48159066C>G uc010nib.1 - 6 553 c.466_splice c.e6+1 p.G156_splice NM_174962 NP_777622 synovial sarcoma, X breakpoint 9 NA TTTCCTCTTCCCAGATGCCTT 0.527 NA 35 252 0 0 0.003755 0 0 WNK3 65267 broad.mit.edu 37 X 54259271 54259271 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:54259271G>T uc004dtd.1 - 21 5109 c.4670C>A c.(4669-4671)ACA>AAA p.T1557K WNK3_uc004dtc.1_Missense_Mutation_p.T1604K NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1557 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GTCCACATGTGTCAAGGACTG 0.363 NA 14 146 2.31682e-05 3.14131e-05 0.003163 1 0 RGAG4 340526 broad.mit.edu 37 X 71349932 71349932 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:71349932C>A uc010nlh.1 - 1 1820 c.1459G>T c.(1459-1461)GGT>TGT p.G487C NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 487 ovary(2)|skin(1) 3 Renal(35;0.156) GCGTGGTAACCACTTGTGGGG 0.557 NA 13 47 0.00136819 0.00166013 0.001368 1 0 CYLC1 1538 broad.mit.edu 37 X 83128659 83128659 + Missense_Mutation SNP A A G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:83128659A>G uc004eei.1 + 4 964 c.943A>G c.(943-945)AAA>GAA p.K315E CYLC1_uc004eeh.1_Missense_Mutation_p.K314E NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 315 2. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 GAAAGTTAAGAAAAATGTCAA 0.308 NA 13 57 0 0 0.001855 0 0 HDX 139324 broad.mit.edu 37 X 83730391 83730391 + Silent SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:83730391A>T uc004eek.1 - 2 124 c.15T>A c.(13-15)TCT>TCA p.S5S HDX_uc011mqv.1_Silent_p.S5S|HDX_uc004eel.1_Intron NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 5 Homeobox 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 CAGTAAATACAGAACGTAGAT 0.279 Pancreas(53;231 1169 36156 43751 51139) NA 4 46 0 0 0.000248 0 0 GPRASP1 9737 broad.mit.edu 37 X 101910104 101910104 + Silent SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:101910104C>A uc004ejj.3 + 5 2064 c.1263C>A c.(1261-1263)GCC>GCA p.A421A GPRASP1_uc004eji.3_Silent_p.A421A|GPRASP1_uc010nod.2_Silent_p.A421A NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 421 cytoplasm protein binding ovary(1)|lung(1) 2 CAGATGAAGCCAGCATAGAGT 0.552 NA 21 88 1.96292e-10 3.3688e-10 0.001523 1 0 GPRASP1 9737 broad.mit.edu 37 X 101911166 101911166 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:101911166G>T uc004ejj.3 + 5 3126 c.2325G>T c.(2323-2325)GAG>GAT p.E775D GPRASP1_uc004eji.3_Missense_Mutation_p.E775D|GPRASP1_uc010nod.2_Missense_Mutation_p.E775D NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 775 Glu-rich. cytoplasm protein binding ovary(1)|lung(1) 2 AAGCTGAGGAGGGGGACATTA 0.493 NA 7 177 1.06961e-07 1.68398e-07 0.00308 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 104440287 104440287 + Silent SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:104440287G>T uc004elz.1 + 3 969 c.213G>T c.(211-213)GGG>GGT p.G71G NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 71 Ig-like C2-type 1.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 AGAGCACTGGGCTCAGGCTTA 0.448 NA 26 91 3.28513e-13 6.01747e-13 0.003954 1 0 COL4A5 1287 broad.mit.edu 37 X 107827715 107827715 + Missense_Mutation SNP G G T rs104886092 TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:107827715G>T uc004enz.1 + 18 1194 c.992G>T c.(991-993)GGC>GTC p.G331V COL4A5_uc011mso.1_Missense_Mutation_p.G331V|COL4A5_uc004eob.1_5'UTR NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 331 Triple-helical region. G -> V (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 ATTGAACAGGGCCAAAAAGGT 0.328 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 7 75 5.18039e-06 7.33728e-06 0.00308 1 0 CAPN6 827 broad.mit.edu 37 X 110490609 110490609 + Missense_Mutation SNP G G A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:110490609G>A uc004epc.1 - 12 1898 c.1730C>T c.(1729-1731)CCT>CTT p.P577L CAPN6_uc011msu.1_Missense_Mutation_p.P322L NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 577 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 TACTATAATAGGAATGTCAGT 0.423 NA 8 297 0 0 0.006214 0 0 WDR44 54521 broad.mit.edu 37 X 117543510 117543510 + Missense_Mutation SNP A A T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:117543510A>T uc004eqn.2 + 11 2017 c.1592A>T c.(1591-1593)CAA>CTA p.Q531L WDR44_uc004eqo.2_Missense_Mutation_p.Q531L|WDR44_uc011mtr.1_Missense_Mutation_p.Q506L|WDR44_uc010nqi.2_Missense_Mutation_p.Q241L NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 531 WD 1. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 TCAGCTGGACAAGACAATGTA 0.333 NA 5 183 0 0 0.000602 0 0 ATP1B4 23439 broad.mit.edu 37 X 119505001 119505001 + Missense_Mutation SNP C C G TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:119505001C>G uc004esr.2 + 4 582 c.498C>G c.(496-498)AAC>AAG p.N166K ATP1B4_uc004esq.2_Missense_Mutation_p.N162K|ATP1B4_uc011mtx.1_Missense_Mutation_p.N131K|ATP1B4_uc011mty.1_Missense_Mutation_p.N123K NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 166 Perinuclear space (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 TTAACTTCAACTTCAACGTTT 0.398 NA 9 145 0 0 0.004482 0 0 CUL4B 8450 broad.mit.edu 37 X 119668355 119668355 + Silent SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:119668355G>T uc004esw.2 - 19 2738 c.2301C>A c.(2299-2301)ATC>ATA p.I767I CUL4B_uc010nqq.2_Silent_p.I468I|CUL4B_uc004esv.2_Silent_p.I749I NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 767 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 TTGCCTGCTTGATCTCTTCTA 0.388 NA 37 260 6.33695e-27 1.23183e-26 0.007835 1 0 GPR112 139378 broad.mit.edu 37 X 135430312 135430312 + Missense_Mutation SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:135430312G>T uc004ezu.1 + 6 4738 c.4447G>T c.(4447-4449)GAC>TAC p.D1483Y GPR112_uc010nsb.1_Missense_Mutation_p.D1278Y|GPR112_uc010nsc.1_Missense_Mutation_p.D1250Y NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1483 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AGTTCTCTCCGACAGGATCAC 0.433 NA 19 233 3.57192e-18 6.83871e-18 0.006122 1 0 GABRA3 2556 broad.mit.edu 37 X 151336800 151336800 + Missense_Mutation SNP C C A TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:151336800C>A uc010ntk.1 - 10 1619 c.1379G>T c.(1378-1380)CGC>CTC p.R460L NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 460 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAAGATGATGCGGGAAATTTT 0.498 NSCLC(142;2578 2613 10251 16743) NA 44 157 1.15183e-24 2.22765e-24 0.002222 1 0 MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 GAA GAA - - GAA GAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:121134166_121134168delGAA uc001tyy.1 + 5 848_850 c.697_699delGAA c.(697-699)GAAdel p.E238del NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 238 Poly-Glu.|Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 gaaagaagaggaagaagaagaag 0.404 NA 8 196 --- --- --- --- NA NA NA NA NA ACSF2 80221 broad.mit.edu 37 17 48503739 48503739 + Frame_Shift_Del DEL C C - TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:48503739delC uc002iqu.2 + 1 221 c.117delC c.(115-117)GTCfs p.V39fs ACSF2_uc010wml.1_Frame_Shift_Del_p.V39fs|ACSF2_uc010wmm.1_Frame_Shift_Del_p.V39fs|ACSF2_uc010wmn.1_Frame_Shift_Del_p.V39fs|ACSF2_uc010wmo.1_5'UTR NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 precursor 39 fatty acid metabolic process mitochondrion ATP binding|ligase activity 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TGCAGGGTGTCCGCTTCCTCA 0.726 NA 2 4 --- --- --- --- NA NA NA NA NA MED13 9969 broad.mit.edu 37 17 60107282 60107283 + Frame_Shift_Del DEL GT GT - TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr17:60107282_60107283delGT uc002izo.2 - 7 1178_1179 c.1101_1102delAC c.(1099-1104)ATACCCfs p.I367fs MED13_uc002izp.2_5'UTR NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 367_368 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 AATTTTCTGGGTATTTTCCCAC 0.381 NA 28 85 --- --- --- --- NA NA NA NA NA ZADH2 284273 broad.mit.edu 37 18 72920829 72920830 + Frame_Shift_Ins INS - - C TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr18:72920829_72920830insC uc002llx.2 - 1 452_453 c.184_185insG c.(184-186)GACfs p.D62fs TSHZ1_uc002lly.2_5'Flank NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain 62 peroxisome oxidoreductase activity|zinc ion binding 0 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) GAGGTCTCCGTCCCCGGGGAGC 0.619 NA 3 5 --- --- --- --- NA NA NA NA NA IFNAR2 3455 broad.mit.edu 37 21 34635338 34635338 + Frame_Shift_Del DEL G G - TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr21:34635338delG uc002yrd.2 + 9 1409 c.1081delG c.(1081-1083)GACfs p.D361fs IFNAR2_uc002yre.2_Frame_Shift_Del_p.D361fs|IFNAR2_uc002yrf.2_3'UTR|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron NM_207585 NP_997468 P48551 INAR2_HUMAN interferon alpha/beta receptor 2 isoform a 361 Cytoplasmic (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity 0 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CCAGTTGATAGACCCGGAGTC 0.607 NA 14 78 --- --- --- --- NA NA NA NA NA SLITRK3 22865 broad.mit.edu 37 3 164906357 164906357 + Frame_Shift_Del DEL G G - rs146211129 TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr3:164906357delG uc003fej.3 - 2 2706 c.2262delC c.(2260-2262)CCCfs p.P754fs SLITRK3_uc003fek.2_Frame_Shift_Del_p.P754fs NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 754 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GCTTGTAGATGGGGTTGTTGC 0.557 NA HNSCC(40;0.11) 18 126 --- --- --- --- NA NA NA NA NA ERBB2IP 55914 broad.mit.edu 37 5 65349867 65349867 + Frame_Shift_Del DEL A A - TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr5:65349867delA uc003juk.1 + 21 3029 c.2721delA c.(2719-2721)GGAfs p.G907fs ERBB2IP_uc003jui.1_Frame_Shift_Del_p.G907fs|ERBB2IP_uc003juj.1_Frame_Shift_Del_p.G907fs|ERBB2IP_uc011cqx.1_Frame_Shift_Del_p.G907fs|ERBB2IP_uc011cqy.1_Frame_Shift_Del_p.G907fs|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Frame_Shift_Del_p.G903fs|ERBB2IP_uc003jul.1_Frame_Shift_Del_p.G903fs NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 907 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CTGTTGATGGAAAAAATATAG 0.378 NA 7 1553 --- --- --- --- NA NA NA NA NA C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr8:86129664delT uc010mac.1 - 3 305 c.65delA c.(64-66)AACfs p.N22fs C8orf59_uc003ydd.2_Frame_Shift_Del_p.N22fs|C8orf59_uc010mad.1_Frame_Shift_Del_p.N22fs|C8orf59_uc003yde.2_Frame_Shift_Del_p.N22fs|C8orf59_uc011lfu.1_RNA NM_001099670 NP_001093140 Q8N0T1 CH059_HUMAN hypothetical protein LOC401466 22 0 AGCCTTAAAGTTTTTTTGGCT 0.343 NA 7 225 --- --- --- --- NA NA NA NA NA PTPRD 5789 broad.mit.edu 37 9 8389298 8389298 + Frame_Shift_Del DEL C C - TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr9:8389298delC uc003zkk.2 - 36 5031 c.4320delG c.(4318-4320)TGGfs p.W1440fs PTPRD_uc003zkp.2_Frame_Shift_Del_p.W1034fs|PTPRD_uc003zkq.2_Frame_Shift_Del_p.W1033fs|PTPRD_uc003zkr.2_Frame_Shift_Del_p.W1024fs|PTPRD_uc003zks.2_Frame_Shift_Del_p.W1033fs|PTPRD_uc003zkl.2_Frame_Shift_Del_p.W1431fs|PTPRD_uc003zkm.2_Frame_Shift_Del_p.W1427fs|PTPRD_uc003zkn.2_Frame_Shift_Del_p.W1029fs|PTPRD_uc003zko.2_Frame_Shift_Del_p.W1030fs NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1440 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATATCATTCTCCAAAAGTCCC 0.403 NA TSP Lung(15;0.13) 12 228 --- --- --- --- NA NA NA NA NA CXorf59 286464 broad.mit.edu 37 X 36162841 36162842 + Frame_Shift_Ins INS - - T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chrX:36162841_36162842insT uc004ddk.1 + 11 1610_1611 c.1424_1425insT c.(1423-1425)TGTfs p.C475fs NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 475 Helical; (Potential). integral to membrane central_nervous_system(1) 1 ttttttgtttgtttgttctttt 0 NA 14 46 --- --- --- --- NA NA NA NA NA KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bf6ba698-7154-4d7f-b076-24ac2f768696 2c3be991-7581-48e9-8ebb-054eedf79d45 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 12 NA NA NA NA 0.00909568 0.0103446 0.000248 1 1