Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample GLTPD1 80772 broad.mit.edu 37 1 1262754 1262754 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:1262754G>A uc001aeo.2 + 3 671 c.256G>A c.(256-258)GAG>AAG p.E86K CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank NM_001029885 NP_001025056 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 86 cytoplasm glycolipid binding|glycolipid transporter activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGTGGCCCACGAGCTGAGCAA 0.706 NaN 0 0 0 0.000602 0 5 15 PRAMEF12 390999 broad.mit.edu 37 1 12835183 12835183 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:12835183C>T uc001aui.2 + 1 200 c.173C>T c.(172-174)GCC>GTC p.A58V NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 58 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATGGTGCAGGCCTGGCCCTTC 0.577 NaN 0 0 0 0.00499 0 17 76 UBR4 23352 broad.mit.edu 37 1 19473366 19473366 + Missense_Mutation SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:19473366G>T uc001bbi.2 - 52 7762 c.7758C>A c.(7756-7758)AAC>AAA p.N2586K UBR4_uc001bbk.1_Missense_Mutation_p.N240K NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2586 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGACAAGGTTGTTGGGGCGCA 0.517 NaN 1 0 9.86323e-18 0.003954 1.13853e-17 25 155 GRIK3 2899 broad.mit.edu 37 1 37271789 37271789 + Nonsense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:37271789C>A uc001caz.2 - 14 2365 c.2230G>T c.(2230-2232)GAG>TAG p.E744* GRIK3_uc001cba.1_Nonsense_Mutation_p.E744* NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 744 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GTGACGTACTCGATGGTGGTG 0.637 NaN 1 0 1.66031e-10 0.003954 1.83714e-10 21 34 RLF 6018 broad.mit.edu 37 1 40704314 40704314 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:40704314C>A uc001cfc.3 + 8 3971 c.3940C>A c.(3940-3942)CAT>AAT p.H1314N RLF_uc001cfd.3_Missense_Mutation_p.H1005N NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1314 C2H2-type 10. chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CCATTGTATTCATAAAACTTG 0.368 NaN 1 0 1.12685e-05 0.004482 1.17721e-05 8 37 TNNI3K 51086 broad.mit.edu 37 1 74801782 74801782 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:74801782G>C uc001dgf.1 + 7 682 c.631G>C c.(631-633)GGA>CGA p.G211R TNNI3K_uc001dgc.1_Missense_Mutation_p.G312R|TNNI3K_uc001dgd.2_Missense_Mutation_p.G312R|TNNI3K_uc001dge.1_Missense_Mutation_p.G312R NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 211 ANK 5. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 ATCTGCAAAAGGATTCTTGAA 0.358 NaN 0 0 0 0.014323 0 23 41 RPF1 80135 broad.mit.edu 37 1 84944970 84944970 + Silent SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:84944970G>T uc001djv.3 + 1 51 c.6G>T c.(4-6)GCG>GCT p.A2A NM_025065 NP_079341 Q9H9Y2 RPF1_HUMAN RNA processing factor 1 2 rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding 0 AGACCATGGCGAAAGCCGGGG 0.552 NaN 1 0 1.61879e-10 0.013537 1.80187e-10 11 19 RPL5 6125 broad.mit.edu 37 1 93300335 93300335 + Splice_Site SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:93300335G>A uc001doz.2 + 4 268 c.190_splice c.e4-1 p.I64_splice FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Splice_Site|RPL5_uc001dpb.2_Splice_Site_p.I14_splice|RPL5_uc001dpd.2_5'Flank|SNORD21_uc001dpe.2_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome 0 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TCTTACTATAGATTGCTTATG 0.388 NaN 0 0 0 0.01441 0 67 80 MYBPHL 343263 broad.mit.edu 37 1 109838858 109838858 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:109838858G>A uc001dxk.1 - 6 915 c.865C>T c.(865-867)CGG>TGG p.R289W MYBPHL_uc010ovh.1_Missense_Mutation_p.R266W|MYBPHL_uc001dxl.2_Intron NM_001010985 NP_001010985 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 289 Ig-like C2-type 2. ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) CCACTCACCCGGGGAGAGGCG 0.562 NaN 0 0 0 0.009718 0 43 102 SPAG17 200162 broad.mit.edu 37 1 118623868 118623868 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:118623868G>C uc001ehk.2 - 15 2133 c.2065C>G c.(2065-2067)CGA>GGA p.R689G NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 689 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) GAAGGTTCTCGGTTGCTTTCA 0.363 NaN 0 0 0 0.00333 0 22 126 ANKRD35 148741 broad.mit.edu 37 1 145563013 145563013 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:145563013C>T uc001eob.1 + 10 2809 c.2701C>T c.(2701-2703)CGC>TGC p.R901C NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R744C NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 901 Potential. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GATGCGGGGGCGCTCCGAGCA 0.667 NaN 0 0 0 0.004482 0 9 36 GPR89B 51463 broad.mit.edu 37 1 147400669 147400669 + Missense_Mutation SNP C C G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:147400669C>G uc001epv.3 + 1 164 c.20C>G c.(19-21)TCC>TGC p.S7C GPR89B_uc010ozs.1_Missense_Mutation_p.S7C|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'Flank NM_016334 NP_057418 B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89B 7 Helical; (Potential). intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity 0 all_hematologic(923;0.0276) CTGATCGACTCCAGCATCATG 0.662 NaN 0 0 0 0.005443 0 24 58 HIST2H2AC 8338 broad.mit.edu 37 1 149858559 149858559 + Missense_Mutation SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:149858559G>T uc001etd.2 + 1 35 c.35G>T c.(34-36)CGC>CTC p.R12L HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 12 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGCAAGGCCCGCGCCAAGGCC 0.582 NaN 1 0 3.76054e-38 0.01441 4.5369e-38 74 111 ATP1A4 480 broad.mit.edu 37 1 160143967 160143967 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:160143967G>C uc001fve.3 + 14 2537 c.2058G>C c.(2056-2058)CAG>CAC p.Q686H ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.Q189H NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 686 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) agcttgatcagatcctccaga 0.199 NaN 0 0 0 0.012319 0 18 70 ATP1A4 480 broad.mit.edu 37 1 160143998 160143998 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:160143998G>C uc001fve.3 + 14 2568 c.2089G>C c.(2089-2091)GCT>CCT p.A697P ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.A200P NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 697 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) gatcgtgtttgctcgGACCTC 0.264 NaN 0 0 0 0.006122 0 16 79 ATP1A4 480 broad.mit.edu 37 1 160146388 160146388 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:160146388G>C uc001fve.3 + 17 3065 c.2586G>C c.(2584-2586)CAG>CAC p.Q862H ATP1A4_uc001fvf.3_Intron|ATP1A4_uc001fvg.2_Missense_Mutation_p.Q365H|ATP1A4_uc001fvh.2_5'Flank NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 862 Helical; (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTATGGACAGATTGGTGCGC 0.527 NaN 0 0 0 0.00499 0 15 45 HSPA6 3310 broad.mit.edu 37 1 161495361 161495361 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:161495361G>C uc001gap.2 + 2 1573 c.913G>C c.(913-915)GAG>CAG p.E305Q HSPA6_uc001gaq.2_Missense_Mutation_p.E305Q NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 305 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGCCCGCTTTGAGGAACTGTG 0.627 NaN 0 0 0 0.010504 0 20 19 ZBTB37 84614 broad.mit.edu 37 1 173839474 173839474 + Missense_Mutation SNP T T G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:173839474T>G uc009wwp.1 + 3 387 c.111T>G c.(109-111)AAT>AAG p.N37K GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.N37K|ZBTB37_uc001gjq.3_Missense_Mutation_p.N37K|ZBTB37_uc001gjr.2_Missense_Mutation_p.N37K NM_001122770 NP_001116242 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 isoform 37 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGTGGTCAATGTGCAAGGAC 0.507 NaN 0 0 0 0.004878 0 39 92 HMCN1 83872 broad.mit.edu 37 1 185987360 185987360 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:185987360G>C uc001grq.1 + 34 5575 c.5346G>C c.(5344-5346)AAG>AAC p.K1782N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1782 Ig-like C2-type 15. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATGGATTCAAGATTTTATTAA 0.398 NaN 0 0 0 0.008361 0 30 90 CFHR5 81494 broad.mit.edu 37 1 196967415 196967415 + Missense_Mutation SNP T T A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:196967415T>A uc001gts.3 + 7 1256 c.1128T>A c.(1126-1128)AAT>AAA p.N376K NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 376 Sushi 6. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 GGAAATGGAATCCTGAAGTAG 0.294 NaN 0 0 0 0.013537 0 10 29 ZP4 57829 broad.mit.edu 37 1 238048117 238048117 + Missense_Mutation SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:238048117G>T uc001hym.2 - 10 1342 c.1342C>A c.(1342-1344)CAG>AAG p.Q448K LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 448 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCAGCAGGCTGGCAGACTGAC 0.498 NaN 1 0 2.74318e-10 0.006214 3.0175e-10 9 23 OR2T12 127064 broad.mit.edu 37 1 248458286 248458286 + Missense_Mutation SNP T T A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:248458286T>A uc010pzj.1 - 1 595 c.595A>T c.(595-597)ATC>TTC p.I199F NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ACACAGCAGATGTACATGGCG 0.537 NaN 0 0 0 0.004007 0 15 79 OR2G6 391211 broad.mit.edu 37 1 248685648 248685648 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr1:248685648G>A uc001ien.1 + 1 701 c.701G>A c.(700-702)CGC>CAC p.R234H NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTGCGGGCCGCCAAAAGGCC 0.473 NaN 0 0 0 0.008871 0 21 58 SLC39A12 221074 broad.mit.edu 37 10 18292239 18292239 + Silent SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr10:18292239C>A uc001ipo.2 + 12 2172 c.1899C>A c.(1897-1899)ATC>ATA p.I633I SLC39A12_uc001ipn.2_Silent_p.I596I|SLC39A12_uc001ipp.2_Silent_p.I632I|SLC39A12_uc010qck.1_Silent_p.I499I|uc001ipq.1_RNA NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 633 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AAGACTGGATCTTCACAGTCA 0.393 NaN 1 0 1.13049e-35 0.01441 1.35514e-35 93 112 WAPAL 23063 broad.mit.edu 37 10 88259960 88259960 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr10:88259960C>A uc001kdo.2 - 3 1482 c.1040G>T c.(1039-1041)AGT>ATT p.S347I WAPAL_uc001kdn.2_Missense_Mutation_p.S390I|WAPAL_uc009xsw.2_Missense_Mutation_p.S347I NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 347 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 CCCTCTAAAACTGGTCCCACA 0.463 NaN 1 0 7.88023e-25 0.01441 9.21002e-25 45 48 OR51M1 390059 broad.mit.edu 37 11 5410829 5410829 + Silent SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:5410829G>T uc010qzc.1 + 1 201 c.201G>T c.(199-201)CTG>CTT p.L67L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 67 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCCTCGTCTGCACACACCCA 0.463 NaN 1 0 1.33834e-09 0.007413 1.46356e-09 20 75 DBX1 120237 broad.mit.edu 37 11 20178183 20178183 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:20178183C>T uc001mpw.1 - 4 726 c.726G>A c.(724-726)GCG>GCA p.A242A NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTCCGGGGGACGCACGGGGGC 0.622 NaN 0 0 0 0.007413 0 19 18 OR4P4 81300 broad.mit.edu 37 11 55406051 55406051 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:55406051C>T uc010rij.1 + 1 218 c.218C>T c.(217-219)TCC>TTC p.S73F NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TGCTACACATCCACAGTGACC 0.398 NaN 0 0 0 0.01441 0 49 99 OR5W2 390148 broad.mit.edu 37 11 55681672 55681672 + Silent SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:55681672G>T uc010rir.1 - 1 387 c.387C>A c.(385-387)CCC>CCA p.P129P NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TATAGAGCAGGGGGTTGATGA 0.463 NaN 1 0 2.20262e-25 0.013726 2.5905e-25 34 47 MPEG1 219972 broad.mit.edu 37 11 58979792 58979792 + Missense_Mutation SNP C C G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:58979792C>G uc001nnu.3 - 1 703 c.547G>C c.(547-549)GAG>CAG p.E183Q NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 183 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) TGGTTGTTCTCTAGACGGTCA 0.507 NaN 0 0 0 0.004289 0 36 90 RASGRP2 10235 broad.mit.edu 37 11 64494818 64494818 + Nonsense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:64494818C>A uc009ypu.2 - 16 2013 c.1786G>T c.(1786-1788)GAG>TAG p.E596* RASGRP2_uc001oat.2_Nonsense_Mutation_p.E499*|RASGRP2_uc001oau.2_Nonsense_Mutation_p.E452*|RASGRP2_uc009ypv.2_Nonsense_Mutation_p.E596*|RASGRP2_uc009ypw.2_Nonsense_Mutation_p.E596* NM_001098671 NP_001092141 Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 596 platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity 0 GTCTGTACCTCCTCCTCACGG 0.597 NaN 1 0 3.09899e-07 0.004482 3.36925e-07 9 49 PYGM 5837 broad.mit.edu 37 11 64519519 64519519 + Missense_Mutation SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:64519519A>G uc001oax.3 - 14 2462 c.1645T>C c.(1645-1647)TAC>CAC p.Y549H PYGM_uc001oay.3_Missense_Mutation_p.Y461H NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 549 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CTCTCTAGGTAGGCAGCAAAC 0.517 NaN 0 0 0 0.01441 0 50 118 PCNXL3 399909 broad.mit.edu 37 11 65392689 65392689 + Silent SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:65392689T>C uc001oey.2 + 17 2967 c.2967T>C c.(2965-2967)TGT>TGC p.C989C PCNXL3_uc009yqn.2_5'UTR|PCNXL3_uc001oez.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 989 Helical; (Potential). integral to membrane 0 CAGTCTTCTGTGGCCTCCTGG 0.642 NaN 0 0 0 0.004482 0 7 16 BUD13 84811 broad.mit.edu 37 11 116628530 116628531 + Missense_Mutation DNP CC CC AA TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:116628530_116628531CC>AA uc001ppn.2 - 8 1669_1670 c.1635_1636GG>TT c.(1633-1638)ATGGCC>ATTTCC p.545_546MA>IS BUD13_uc001ppo.2_Missense_Mutation_p.411_412MA>IS NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 545_546 large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) ATGAAGTTGGCCATAGGGTCCC 0.45 NaN 0 0 0 0.004672 0 89 153 OPCML 4978 broad.mit.edu 37 11 132307139 132307139 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:132307139C>T uc001qgs.2 - 4 691 c.641G>A c.(640-642)CGG>CAG p.R214Q OPCML_uc001qgu.2_Missense_Mutation_p.R207Q|OPCML_uc010sck.1_Missense_Mutation_p.R214Q|OPCML_uc001qgt.2_Missense_Mutation_p.R213Q|OPCML_uc010scl.1_Missense_Mutation_p.R173Q NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 214 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TTTTACTTTCCGCACATCGGG 0.542 NaN 0 0 0 0.008871 0 16 68 ABCD2 225 broad.mit.edu 37 12 40013068 40013068 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr12:40013068C>T uc001rmb.2 - 1 776 c.350G>A c.(349-351)AGA>AAA p.R117K NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 117 ABC transmembrane type-1.|Interaction with PEX19.|Helical; (Potential). fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 AAGAAAGGTTCTTGAGATTAG 0.413 NaN 0 0 0 0.012319 0 23 62 KSR2 283455 broad.mit.edu 37 12 117914394 117914394 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr12:117914394C>T uc001two.2 - 17 2425 c.2370G>A c.(2368-2370)GAG>GAA p.E790E NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 819 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCAGTTTGTCCTCCCGCCTGG 0.602 NaN 0 0 0 0.009096 0 3 7 CLIP1 6249 broad.mit.edu 37 12 122818658 122818658 + Splice_Site SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr12:122818658C>T uc001ucg.1 - 13 2733 c.2627_splice c.e13-1 p.E876_splice CLIP1_uc001uch.1_Splice_Site_p.E865_splice|CLIP1_uc001uci.1_Splice_Site_p.E830_splice|CLIP1_uc001ucj.1_Splice_Site_p.E451_splice NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTTACAGTTTCTATTTAGGAT 0.343 NaN 0 0 0 0.000602 0 5 17 DNAH10 196385 broad.mit.edu 37 12 124265822 124265822 + Missense_Mutation SNP C C G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr12:124265822C>G uc001uft.3 + 6 659 c.634C>G c.(634-636)CAA>GAA p.Q212E NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 212 Stem (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAGTAATATTCAAAGAACCAT 0.313 NaN 0 0 0 0.01441 0 68 100 DNAH10 196385 broad.mit.edu 37 12 124359912 124359912 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr12:124359912G>A uc001uft.3 + 46 7744 c.7719G>A c.(7717-7719)AAG>AAA p.K2573K NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2573 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAATGGGAAAGGCTGGAGGAG 0.438 NaN 0 0 0 0.001984 0 7 32 ARHGEF7 8874 broad.mit.edu 37 13 111929950 111929950 + Missense_Mutation SNP A A C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr13:111929950A>C uc001vrs.2 + 14 1749 c.1499A>C c.(1498-1500)TAT>TCT p.Y500S ARHGEF7_uc001vrr.2_Missense_Mutation_p.Y479S|ARHGEF7_uc001vrt.2_Missense_Mutation_p.Y450S|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.Y322S|ARHGEF7_uc001vrv.3_Missense_Mutation_p.Y322S|ARHGEF7_uc001vrw.3_Missense_Mutation_p.Y322S|ARHGEF7_uc001vrx.3_Missense_Mutation_p.Y322S|ARHGEF7_uc010tjo.1_Missense_Mutation_p.Y397S|ARHGEF7_uc010tjp.1_Missense_Mutation_p.Y244S NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 500 PH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) AATGAAAGATATCTTCTACTC 0.279 NaN 0 0 0 0.004656 0 25 44 OR4M1 441670 broad.mit.edu 37 14 20249177 20249177 + Silent SNP T T A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr14:20249177T>A uc010tku.1 + 1 696 c.696T>A c.(694-696)GGT>GGA p.G232G NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAGGCTCAGGTGAGAATACCA 0.463 NaN 0 0 0 0.01441 0 61 167 NUBPL 80224 broad.mit.edu 37 14 32315779 32315779 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr14:32315779C>T uc001wrk.3 + 9 851 c.796C>T c.(796-798)CTT>TTT p.L266F NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Missense_Mutation_p.L170F NM_025152 NP_079428 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 266 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding 0 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) AGCACAGACCCTTGGTCTTGA 0.428 NaN 0 0 0 0.001168 0 6 12 STOML1 9399 broad.mit.edu 37 15 74281034 74281034 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr15:74281034C>T uc002awe.2 - 4 571 c.500G>A c.(499-501)CGC>CAC p.R167H STOML1_uc002awf.2_Missense_Mutation_p.R167H|STOML1_uc010bje.2_Missense_Mutation_p.R167H|STOML1_uc010uld.1_Missense_Mutation_p.R125H|STOML1_uc002awh.2_Missense_Mutation_p.R117H|STOML1_uc002awg.2_Missense_Mutation_p.R117H|STOML1_uc002awi.2_Missense_Mutation_p.R80H NM_004809 NP_004800 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 167 Cytoplasmic (Potential). integral to membrane sterol binding skin(1) 1 GGCTGTCATGCGTGTGGCTGT 0.602 NaN 0 0 0 0.007835 0 43 34 SRRM2 23524 broad.mit.edu 37 16 2813316 2813316 + Silent SNP C C T rs137907192 byFrequency TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr16:2813316C>T uc002crk.2 + 11 3336 c.2787C>T c.(2785-2787)AGC>AGT p.S929S SRRM2_uc002crj.1_Silent_p.S833S|SRRM2_uc002crl.1_Silent_p.S929S|SRRM2_uc010bsu.1_Silent_p.S833S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 929 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GACAAAGAAGCCATTCTGGCT 0.493 NaN 0 0 0 0.001984 0 6 93 A2BP1 54715 broad.mit.edu 37 16 7645613 7645613 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr16:7645613C>T uc002cys.2 + 8 1519 c.531C>T c.(529-531)CAC>CAT p.H177H A2BP1_uc010buf.1_Silent_p.H177H|A2BP1_uc002cyr.1_Silent_p.H176H|A2BP1_uc002cyt.2_Silent_p.H177H|A2BP1_uc010uxz.1_Silent_p.H220H|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Silent_p.H177H|A2BP1_uc010uyb.1_Silent_p.H177H|A2BP1_uc002cyw.2_Silent_p.H197H|A2BP1_uc002cyy.2_Silent_p.H197H|A2BP1_uc002cyx.2_Silent_p.H197H|A2BP1_uc010uyc.1_Silent_p.H197H NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 177 RRM. 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) AGAAATTACACGGCACCGTGG 0.448 NaN 0 0 0 0.00333 0 23 92 DNAH3 55567 broad.mit.edu 37 16 21061283 21061283 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr16:21061283C>T uc010vbe.1 - 30 4295 c.4295G>A c.(4294-4296)GGG>GAG p.G1432E NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1432 ATP (Potential).|AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CTTGCCAGTCCCAGCTGGACC 0.522 NaN 0 0 0 0.001855 0 13 67 SHCBP1 79801 broad.mit.edu 37 16 46638001 46638001 + Silent SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr16:46638001G>T uc002eec.3 - 7 1018 c.978C>A c.(976-978)TCC>TCA p.S326S NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 326 ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) TCTGACCGCTGGAACGGACAC 0.493 NaN 1 0 4.4004e-07 0.00333 4.72917e-07 25 92 CNOT1 23019 broad.mit.edu 37 16 58620581 58620581 + Nonsense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr16:58620581G>A uc002env.2 - 7 798 c.505C>T c.(505-507)CAA>TAA p.Q169* CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q169*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q169*|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 169 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CCACCTTCTTGATTTCCACTG 0.473 NaN 0 0 0 0.01441 0 119 165 WWOX 51741 broad.mit.edu 37 16 78198152 78198152 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr16:78198152C>T uc002ffk.2 + 5 607 c.482C>T c.(481-483)GCG>GTG p.A161V WWOX_uc010vnk.1_Missense_Mutation_p.A48V|WWOX_uc002ffl.2_Missense_Mutation_p.A161V|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.A161V NM_016373 NP_057457 Q9NZC7 WWOX_HUMAN WW domain-containing oxidoreductase isoform 1 161 Interaction with MAPT (By similarity). apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway Golgi apparatus|mitochondrion|nucleus coenzyme binding|oxidoreductase activity|protein dimerization activity 0 all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167) UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232) ATGGCAAGGGCGAGTGAAGCA 0.448 NaN 0 0 0 0.000602 0 4 28 SMYD4 114826 broad.mit.edu 37 17 1690224 1690224 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr17:1690224C>A uc002ftm.3 - 7 1932 c.1764G>T c.(1762-1764)AAG>AAT p.K588N SMYD4_uc002ftn.1_Missense_Mutation_p.K443N NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 588 zinc ion binding skin(3)|kidney(2) 5 GAGACCTCAGCTTCTGCTGCC 0.542 NaN 1 0 1.49906e-05 0.00245 1.55736e-05 13 18 CCDC42 146849 broad.mit.edu 37 17 8638796 8638796 + Missense_Mutation SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr17:8638796T>C uc002gln.2 - 5 853 c.626A>G c.(625-627)GAA>GGA p.E209G CCDC42_uc002glo.2_Intron NM_144681 NP_653282 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 isoform 1 209 Potential. Missing (in Ref. 2; AAH29224). ovary(1) 1 ATCATCCTTTTCCTCCATGTA 0.562 NaN 0 0 0 0.00308 0 8 35 BRIP1 83990 broad.mit.edu 37 17 59821938 59821938 + Silent SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr17:59821938T>C uc002izk.1 - 15 2253 c.2112A>G c.(2110-2112)TTA>TTG p.L704L BRIP1_uc002izl.1_Silent_p.L85L NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 704 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 AACGTTCTTTTAATTTTTCTA 0.308 NaN F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.01441 0 66 108 PTPN2 5771 broad.mit.edu 37 18 12794331 12794331 + Silent SNP A A T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr18:12794331A>T uc002krp.2 - 9 1388 c.1194T>A c.(1192-1194)ATT>ATA p.I398I PTPN2_uc002krl.2_Intron|PTPN2_uc002krn.2_Intron|PTPN2_uc002kro.2_Intron|PTPN2_uc002krm.2_Intron NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 398 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding skin(2) 2 Lung NSC(161;8.94e-06) CGCCAACCAAAATGACTGACA 0.398 NaN 0 0 0 0.012319 0 20 79 WDR7 23335 broad.mit.edu 37 18 54694285 54694285 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr18:54694285G>A uc002lgk.1 + 28 4531 c.4320G>A c.(4318-4320)CAG>CAA p.Q1440Q WDR7_uc002lgl.1_Silent_p.Q1407Q NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1440 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) CGGCACCTCAGCTGCGCTGCA 0.607 NaN 0 0 0 0.007835 0 41 32 GALR1 2587 broad.mit.edu 37 18 74980672 74980672 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr18:74980672C>T uc002lms.3 + 3 1361 c.864C>T c.(862-864)GCC>GCT p.A288A NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 288 Helical; Name=7; (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GAATCACCGCCCACTGCCTGG 0.493 NaN 0 0 0 0.01441 0 49 28 AP3D1 8943 broad.mit.edu 37 19 2121015 2121015 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:2121015C>A uc002luz.2 - 14 1550 c.1327G>T c.(1327-1329)GAC>TAC p.D443Y AP3D1_uc002luy.2_Missense_Mutation_p.D352Y|AP3D1_uc002lva.2_Missense_Mutation_p.D443Y NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 443 HEAT 9. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATGGCCACGTCCAGCATTTGG 0.652 NaN 1 0 4.3838e-07 0.001855 4.72917e-07 12 50 FBN3 84467 broad.mit.edu 37 19 8161817 8161817 + Silent SNP G G A rs138081025 TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:8161817G>A uc002mjf.2 - 42 5382 c.5361C>T c.(5359-5361)TAC>TAT p.Y1787Y NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1787 EGF-like 27; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 ACTTGCAGCGGTAGCTACCGG 0.607 NaN 0 0 0 0.00278 0 25 55 GATAD2A 54815 broad.mit.edu 37 19 19612809 19612809 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:19612809G>A uc010xqt.1 + 10 1844 c.1532G>A c.(1531-1533)CGC>CAC p.R511H GATAD2A_uc010xqu.1_Missense_Mutation_p.R140H|GATAD2A_uc010xqv.1_Missense_Mutation_p.R531H|GATAD2A_uc010xqw.1_Intron NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 511 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTGGCGTTCCGCTCAGGAGAG 0.667 NaN 0 0 0 0.012319 0 18 69 ZNF536 9745 broad.mit.edu 37 19 30934886 30934886 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:30934886C>A uc002nsu.1 + 2 555 c.417C>A c.(415-417)TTC>TTA p.F139L ZNF536_uc010edd.1_Missense_Mutation_p.F139L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 139 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.F139F(1) ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCAAGCGCTTCCGCTTCAACA 0.637 NaN 1 0 4.87955e-14 0.005443 5.59802e-14 25 67 TSHZ3 57616 broad.mit.edu 37 19 31769796 31769796 + Silent SNP T T C rs61747216 byFrequency TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:31769796T>C uc002nsy.3 - 2 968 c.903A>G c.(901-903)CAA>CAG p.Q301Q NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 301 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GAGGCACTTTTTGGTAGTGTT 0.537 NaN 0 0 0 0.009718 0 44 96 TTC9B 148014 broad.mit.edu 37 19 40722099 40722099 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:40722099C>T uc002onc.2 - 3 709 c.691G>A c.(691-693)GGG>AGG p.G231R NM_152479 NP_689692 Q8N6N2 TTC9B_HUMAN tetratricopeptide repeat domain 9B 231 binding 0 GTCTGGGACCCAGCCCCACTG 0.597 NaN 0 0 0 0.003271 0 32 63 ZNF574 64763 broad.mit.edu 37 19 42583136 42583136 + Nonsense_Mutation SNP C C G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:42583136C>G uc002osm.3 + 2 547 c.378C>G c.(376-378)TAC>TAG p.Y126* ZNF574_uc002osk.3_Nonsense_Mutation_p.Y216* NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 126 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) CCATCCACTACGAGTGTGTGG 0.632 NaN 0 0 0 0.00278 0 25 80 IZUMO1 284359 broad.mit.edu 37 19 49248950 49248950 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:49248950C>A uc002pkj.2 - 2 715 c.167G>T c.(166-168)AGG>ATG p.R56M IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 precursor 56 Extracellular (Potential). fusion of sperm to egg plasma membrane integral to membrane ovary(1) 1 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) ATTCTCTACCCTTTCCATCAT 0.552 NaN 1 0 6.1244e-12 0.007835 6.94099e-12 41 106 PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:50370414A>G uc002pqh.2 - 1 100 c.48T>C c.(46-48)CCT>CCC p.P16P PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P NM_007254 NP_009185 Q96T60 PNKP_HUMAN polynucleotide kinase 3' phosphatase 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding ovary(1)|kidney(1) 2 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721 NaN Other_BER_factors 0 0 0 0.001855 0 12 39 SHANK1 50944 broad.mit.edu 37 19 51171701 51171701 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr19:51171701G>A uc002psx.1 - 22 3535 c.3516C>T c.(3514-3516)AGC>AGT p.S1172S SHANK1_uc002psw.1_Silent_p.S556S NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1172 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TGCTGCCCTGGCTGCTGCGGC 0.522 NaN 0 0 0 0.004007 0 11 15 PXDN 7837 broad.mit.edu 37 2 1652948 1652948 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:1652948C>T uc002qxa.2 - 17 2668 c.2604G>A c.(2602-2604)CGG>CGA p.R868R NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 868 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CGCTCCTGGCCCGGGAGTCAT 0.662 NaN 0 0 0 0.010729 0 10 21 TTC15 51112 broad.mit.edu 37 2 3425691 3425691 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:3425691C>T uc002qxm.1 + 4 1410 c.1204C>T c.(1204-1206)CGT>TGT p.R402C TTC15_uc002qxn.1_Missense_Mutation_p.R402C|TTC15_uc010ewm.1_Missense_Mutation_p.R402C NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 402 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) CCTGTGCGGACGTCTCCTCAC 0.587 NaN 0 0 0 0.006214 0 9 22 C2orf86 51057 broad.mit.edu 37 2 63660991 63660991 + Missense_Mutation SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:63660991A>G uc002sch.2 - 9 1159 c.713T>C c.(712-714)GTT>GCT p.V238A C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.V79A|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.V46A|C2orf86_uc002sci.1_Missense_Mutation_p.V214A|C2orf86_uc010fcr.1_Missense_Mutation_p.V128A NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 238 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 CCAGCAAACAACTCTATCATG 0.433 NaN 0 0 0 0.008871 0 16 27 DYSF 8291 broad.mit.edu 37 2 71894600 71894600 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:71894600G>A uc002sie.2 + 47 5671 c.5295G>A c.(5293-5295)GTG>GTA p.V1765V DYSF_uc010feg.2_Silent_p.V1796V|DYSF_uc010feh.2_Silent_p.V1772V|DYSF_uc002sig.3_Silent_p.V1751V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.V1786V|DYSF_uc010fef.2_Silent_p.V1803V|DYSF_uc010fei.2_Silent_p.V1782V|DYSF_uc010fek.2_Silent_p.V1783V|DYSF_uc010fej.2_Silent_p.V1773V|DYSF_uc010fel.2_Silent_p.V1752V|DYSF_uc010feo.2_Silent_p.V1797V|DYSF_uc010fem.2_Silent_p.V1787V|DYSF_uc010fen.2_Silent_p.V1804V|DYSF_uc002sif.2_Silent_p.V1766V|DYSF_uc010yqy.1_Silent_p.V646V|DYSF_uc010yqz.1_Silent_p.V526V NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1765 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CGGAGCACGTGGAGTCACGGC 0.652 NaN 0 0 0 0.007413 0 20 42 CNGA3 1261 broad.mit.edu 37 2 98986521 98986521 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:98986521C>T uc002syt.2 + 2 500 c.83C>T c.(82-84)GCT>GTT p.A28V CNGA3_uc002syu.2_Missense_Mutation_p.A28V NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 28 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 CTCAATCGCGCTGAAAATGGC 0.502 NaN 0 0 0 0.007413 0 19 27 TBC1D8 11138 broad.mit.edu 37 2 101670703 101670703 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:101670703G>A uc010fiv.2 - 4 584 c.453C>T c.(451-453)TTC>TTT p.F151F TBC1D8_uc010yvw.1_Silent_p.F166F|TBC1D8_uc002tau.3_5'UTR NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 151 GRAM 1. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 CGGGGAAGTTGAACCTGGCCT 0.622 NaN 0 0 0 0.001984 0 7 12 LRP1B 53353 broad.mit.edu 37 2 141812708 141812708 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:141812708C>A uc002tvj.1 - 10 2501 c.1529G>T c.(1528-1530)GGA>GTA p.G510V LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 510 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCATCACTTCCCAAGTTGAA 0.433 NaN TSP Lung(27;0.18) 1 0 1.58986e-06 0.008291 1.69888e-06 10 62 TANC1 85461 broad.mit.edu 37 2 160074029 160074029 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:160074029G>A uc002uag.2 + 20 3540 c.3266G>A c.(3265-3267)AGA>AAA p.R1089K TANC1_uc010zcm.1_Missense_Mutation_p.R1081K|TANC1_uc010fom.1_Missense_Mutation_p.R895K|TANC1_uc010fon.2_5'UTR NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1089 ANK 6. cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 GCCGCAGGAAGAGGGAAGCTG 0.522 NaN 0 0 0 0.004289 0 35 202 SCN1A 6323 broad.mit.edu 37 2 166870384 166870384 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:166870384C>A uc010zcz.1 - 18 3560 c.3542G>T c.(3541-3543)TGT>TTT p.C1181F SCN1A_uc002udo.3_Missense_Mutation_p.C1061F|SCN1A_uc010fpk.2_Missense_Mutation_p.C1033F NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1192 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ATTGATTTGACAACACTTGAA 0.388 NaN 1 0 1.76847e-28 0.01441 2.09306e-28 70 100 PDE11A 50940 broad.mit.edu 37 2 178545579 178545579 + Missense_Mutation SNP T T G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:178545579T>G uc002ulq.2 - 16 2716 c.2398A>C c.(2398-2400)ATC>CTC p.I800L PDE11A_uc002ulp.2_Missense_Mutation_p.I356L|PDE11A_uc002ulr.2_Missense_Mutation_p.I550L|PDE11A_uc002uls.1_Missense_Mutation_p.I442L|PDE11A_uc002ult.1_Missense_Mutation_p.I550L|PDE11A_uc002ulu.1_Missense_Mutation_p.I442L NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 800 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TGGTTTTTGATGTTCCAATCG 0.318 NaN Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 0 0 0 0.004482 0 7 39 TTN 7273 broad.mit.edu 37 2 179575634 179575634 + Missense_Mutation SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:179575634G>T uc010zfg.1 - 95 24682 c.24458C>A c.(24457-24459)CCC>CAC p.P8153H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4814H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9080 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) GTCAAAGAAGGGTGGGTTCTT 0.483 NaN 1 0 0.00621372 0.006214 0.00634953 8 92 TTN 7273 broad.mit.edu 37 2 179644785 179644785 + Nonsense_Mutation SNP A A T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:179644785A>T uc010zfg.1 - 22 3895 c.3671T>A c.(3670-3672)TTA>TAA p.L1224* TTN_uc010zfh.1_Nonsense_Mutation_p.L1178*|TTN_uc010zfi.1_Nonsense_Mutation_p.L1178*|TTN_uc010zfj.1_Nonsense_Mutation_p.L1178*|TTN_uc002unb.2_Nonsense_Mutation_p.L1224* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1224 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) CTTCCTAATTAAGGCTTGTtc 0.308 NaN 0 0 0 0.003271 0 35 61 TTN 7273 broad.mit.edu 37 2 179644787 179644787 + Silent SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:179644787G>T uc010zfg.1 - 22 3893 c.3669C>A c.(3667-3669)GCC>GCA p.A1223A TTN_uc010zfh.1_Silent_p.A1177A|TTN_uc010zfi.1_Silent_p.A1177A|TTN_uc010zfj.1_Silent_p.A1177A|TTN_uc002unb.2_Silent_p.A1223A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1223 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) TCCTAATTAAGGCTTGTtctt 0.313 NaN 1 0 1.56442e-22 0.012213 1.81706e-22 33 62 ANKRD44 91526 broad.mit.edu 37 2 197889932 197889932 + Silent SNP T T A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:197889932T>A uc002uua.1 - 17 1712 c.1635A>T c.(1633-1635)CCA>CCT p.P545P ANKRD44_uc002utz.3_Silent_p.P277P NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 570 ANK 17. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTAAGTGGAGTGGACTCTTAG 0.383 NaN 0 0 0 0.009535 0 30 51 SF3B1 23451 broad.mit.edu 37 2 198265453 198265453 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:198265453C>T uc002uue.2 - 18 2752 c.2704G>A c.(2704-2706)GAA>AAA p.E902K NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 902 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTAGTCTGTTCTTGGAAAGCA 0.318 NaN 0 0 0 0.003954 0 25 50 MAP2 4133 broad.mit.edu 37 2 210559447 210559447 + Silent SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:210559447T>C uc002vde.1 + 7 2801 c.2553T>C c.(2551-2553)ACT>ACC p.T851T MAP2_uc002vdc.1_Silent_p.T851T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.T847T NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 851 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CCCCGGTAACTGATGAAAACC 0.493 NaN 0 0 0 0.001855 0 13 68 SMARCAL1 50485 broad.mit.edu 37 2 217300080 217300080 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:217300080C>T uc002vgc.3 + 9 1835 c.1505C>T c.(1504-1506)CCA>CTA p.P502L SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.P502L|SMARCAL1_uc010fvg.2_Missense_Mutation_p.P502L NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 502 Helicase ATP-binding. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CGGTGGCTGCCATCTCTGAGC 0.547 NaN Schimke_Immuno-Osseous_Dysplasia 0 0 0 0.003163 0 13 62 TNS1 7145 broad.mit.edu 37 2 218713307 218713307 + Missense_Mutation SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:218713307A>G uc002vgt.2 - 17 1956 c.1558T>C c.(1558-1560)TCT>CCT p.S520P TNS1_uc002vgr.2_Missense_Mutation_p.S520P|TNS1_uc002vgs.2_Missense_Mutation_p.S520P|TNS1_uc010zjv.1_Missense_Mutation_p.S520P|TNS1_uc010fvj.1_Missense_Mutation_p.S588P|TNS1_uc010fvk.1_Missense_Mutation_p.S645P|TNS1_uc010fvi.1_Missense_Mutation_p.S207P NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 520 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TCCAGAGAAGAGAGTGTGCCC 0.592 NaN 0 0 0 0.004007 0 14 62 IHH 3549 broad.mit.edu 37 2 219924972 219924972 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:219924972C>T uc002vjo.1 - 1 218 c.218G>A c.(217-219)CGC>CAC p.R73H hsa-mir-3131|MI0014151_5'Flank NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 73 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCGGAGCTGCGAGCGATCTT 0.612 NaN 0 0 0 0.012213 0 32 54 KIF1A 547 broad.mit.edu 37 2 241715279 241715279 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:241715279C>T uc002vzy.2 - 11 1093 c.947G>A c.(946-948)CGG>CAG p.R316Q KIF1A_uc010fzk.2_Missense_Mutation_p.R316Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R316Q NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 316 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CAGGTTTTCCCGGAGGAGCCA 0.577 NaN 0 0 0 0.001168 0 6 24 NEU4 129807 broad.mit.edu 37 2 242757712 242757712 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:242757712C>T uc010fzr.2 + 4 879 c.793C>T c.(793-795)CGC>TGC p.R265C NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.R265C|NEU4_uc002wcn.1_Missense_Mutation_p.R277C|NEU4_uc002wco.1_Missense_Mutation_p.R265C|NEU4_uc002wcp.1_Missense_Mutation_p.R277C NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 265 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GCCCGCAGAGCGCGTGGCTTC 0.697 NaN 0 0 0 0.000602 0 4 3 ZNF341 84905 broad.mit.edu 37 20 32349815 32349815 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr20:32349815G>A uc002wzy.2 + 8 1196 c.1176G>A c.(1174-1176)CAG>CAA p.Q392Q ZNF341_uc002wzx.2_Silent_p.Q385Q|ZNF341_uc010geq.2_Silent_p.Q302Q|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGACCGTACAGGTCATGGCCC 0.567 NaN 0 0 0 0.007835 0 37 77 CPNE1 8904 broad.mit.edu 37 20 34219095 34219095 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr20:34219095C>T uc002xdf.2 - 12 1165 c.802G>A c.(802-804)GTA>ATA p.V268I CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.V273I|CPNE1_uc002xde.2_Missense_Mutation_p.V244I|CPNE1_uc002xdg.2_Missense_Mutation_p.V268I|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.V268I|CPNE1_uc002xdi.2_Missense_Mutation_p.V268I|CPNE1_uc002xdj.2_Missense_Mutation_p.V268I|CPNE1_uc002xdk.2_Missense_Mutation_p.V268I|CPNE1_uc002xdl.2_Missense_Mutation_p.V268I|CPNE1_uc002xdm.2_Missense_Mutation_p.V268I|CPNE1_uc010gfk.1_Missense_Mutation_p.V268I NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 268 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) TCTGTTTCTACCTGCAAATGA 0.493 NaN 0 0 0 0.01441 0 64 157 KIAA0406 9675 broad.mit.edu 37 20 36611923 36611923 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr20:36611923C>T uc002xhl.2 - 9 3414 c.3205G>A c.(3205-3207)GGG>AGG p.G1069R KIAA0406_uc002xhm.2_Missense_Mutation_p.G1069R NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 1069 binding 0 Myeloproliferative disorder(115;0.00874) CCGCTGGCCCCGTGCAGCTGC 0.652 NaN 0 0 0 0.001855 0 12 32 CDH4 1002 broad.mit.edu 37 20 60508129 60508129 + Missense_Mutation SNP G G A rs142330895 TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr20:60508129G>A uc002ybn.1 + 14 2340 c.2326G>A c.(2326-2328)GTC>ATC p.V776I CDH4_uc002ybp.1_Missense_Mutation_p.V702I NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 776 Cytoplasmic (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CGAGGACGACGTCCGCGACAA 0.657 NaN 0 0 0 0.003954 0 21 56 PWP2 5822 broad.mit.edu 37 21 45542227 45542227 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr21:45542227G>A uc002zeb.2 + 14 1896 c.1806G>A c.(1804-1806)GCG>GCA p.A602A NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 602 cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CCAAGCACGCGGCCAAGGGGA 0.582 NaN 0 0 0 0.006214 0 10 43 ITGB2 3689 broad.mit.edu 37 21 46306766 46306766 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr21:46306766C>T uc002zgd.2 - 14 2176 c.2132G>A c.(2131-2133)GGC>GAC p.G711D ITGB2_uc002zge.2_Missense_Mutation_p.G711D|ITGB2_uc002zgf.3_Missense_Mutation_p.G711D|ITGB2_uc011afl.1_Missense_Mutation_p.G633D|ITGB2_uc010gpw.2_Missense_Mutation_p.G654D|ITGB2_uc002zgg.2_Missense_Mutation_p.G711D NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 711 Helical; (Potential). apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) CAGCACGATGCCTGCCACGGT 0.612 NaN 0 0 0 0.004482 0 7 57 IL5RA 3568 broad.mit.edu 37 3 3139839 3139839 + Missense_Mutation SNP T T G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:3139839T>G uc011ask.1 - 7 1147 c.503A>C c.(502-504)CAG>CCG p.Q168P IL5RA_uc010hbq.2_Missense_Mutation_p.Q168P|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.Q168P|IL5RA_uc011asl.1_Missense_Mutation_p.Q168P|IL5RA_uc011asm.1_Missense_Mutation_p.Q168P|IL5RA_uc010hbt.2_Missense_Mutation_p.Q168P|IL5RA_uc011asn.1_Missense_Mutation_p.Q168P|IL5RA_uc010hbu.2_Missense_Mutation_p.Q168P NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 168 Extracellular (Potential). cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) GAGAAAATACTGCGTGTCCTC 0.408 NaN 0 0 0 0.006122 0 17 76 PRRT3 285368 broad.mit.edu 37 3 9989043 9989043 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:9989043G>C uc003bul.2 - 4 1944 c.1814C>G c.(1813-1815)TCG>TGG p.S605W CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 precursor 605 Helical; (Potential). integral to membrane 0 CCAGGCGCACGACAAGCCCTG 0.711 NaN 0 0 0 0.000602 0 4 23 ZNF385D 79750 broad.mit.edu 37 3 21465483 21465483 + Missense_Mutation SNP T T G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:21465483T>G uc003cce.2 - 7 1334 c.926A>C c.(925-927)AAA>ACA p.K309T NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 309 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 CTTCTGTAGTTTGTTGTAAGG 0.423 NaN 0 0 0 0.00499 0 12 84 LRRFIP2 9209 broad.mit.edu 37 3 37100399 37100399 + Missense_Mutation SNP A A C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:37100399A>C uc003cgp.2 - 26 2175 c.1752T>G c.(1750-1752)ATT>ATG p.I584M MLH1_uc011aye.1_Intron|LRRFIP2_uc011ayf.1_Missense_Mutation_p.I366M|LRRFIP2_uc003cgr.2_Missense_Mutation_p.I287M|LRRFIP2_uc003cgs.3_Missense_Mutation_p.I287M|LRRFIP2_uc003cgt.3_Missense_Mutation_p.I263M NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting 584 Potential. Wnt receptor signaling pathway LRR domain binding ovary(1) 1 TCAGTTTTCTAATCTGAAATG 0.438 NaN 0 0 0 0.004482 0 9 59 PLCD1 5333 broad.mit.edu 37 3 38050562 38050562 + Missense_Mutation SNP A A T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:38050562A>T uc003chn.2 - 11 1818 c.1694T>A c.(1693-1695)GTG>GAG p.V565E PLCD1_uc003chm.2_Missense_Mutation_p.V586E NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 565 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) CCACATCTCCACGGGGCTGTA 0.642 NaN 0 0 0 0.009096 0 4 29 TRAK1 22906 broad.mit.edu 37 3 42244140 42244140 + Missense_Mutation SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:42244140T>C uc003cky.2 + 13 1856 c.1640T>C c.(1639-1641)CTG>CCG p.L547P TRAK1_uc011azh.1_Missense_Mutation_p.L547P|TRAK1_uc011azi.1_Missense_Mutation_p.L547P|TRAK1_uc003ckz.3_Missense_Mutation_p.L473P|TRAK1_uc011azj.1_Missense_Mutation_p.L473P|TRAK1_uc003cla.2_Missense_Mutation_p.L489P NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 547 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 ATCATGTCCCTGGGCACGCAC 0.622 NaN 0 0 0 0.014323 0 22 54 MST1R 4486 broad.mit.edu 37 3 49932949 49932949 + Missense_Mutation SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:49932949G>T uc003cxy.3 - 13 3259 c.2995C>A c.(2995-2997)CTG>ATG p.L999M MST1R_uc011bdc.1_Translation_Start_Site NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 999 Cytoplasmic (Potential). cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GTCTGGTCCAGGGATGCCAGG 0.567 NaN 1 0 1.75199e-13 0.007291 1.99769e-13 29 57 TLR9 54106 broad.mit.edu 37 3 52256636 52256636 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:52256636G>A uc003dda.1 - 2 2330 c.1696C>T c.(1696-1698)CAC>TAC p.H566Y TLR9_uc003ddb.2_Missense_Mutation_p.H663Y NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 566 LRR 18.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CTGAAGTTGTGGCCCACGCCC 0.627 NaN 0 0 0 0.00245 0 14 38 CNTN3 5067 broad.mit.edu 37 3 74414794 74414794 + Missense_Mutation SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:74414794A>G uc003dpm.1 - 8 1086 c.1006T>C c.(1006-1008)TAT>CAT p.Y336H NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 336 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CATTCCCAATAAAGACTGTCC 0.448 NaN 0 0 0 0.01441 0 91 201 IFT57 55081 broad.mit.edu 37 3 107881334 107881334 + Missense_Mutation SNP C C G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:107881334C>G uc003dwx.3 - 11 1528 c.1280G>C c.(1279-1281)GGC>GCC p.G427A NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN estrogen-related receptor beta like 1 427 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding ovary(1)|skin(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TTAATAAAAGCCTGTTGCTGG 0.343 NaN 0 0 0 0.01441 0 46 57 PODXL2 50512 broad.mit.edu 37 3 127379999 127379999 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:127379999G>A uc003ejq.2 + 3 1152 c.1128G>A c.(1126-1128)ACG>ACA p.T376T NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 376 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 GGGATTCTACGCAGGTAAAGT 0.582 NaN 0 0 0 0.010729 0 12 44 PIK3CB 5291 broad.mit.edu 37 3 138474750 138474750 + Silent SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:138474750T>C uc011bmq.1 - 2 243 c.243A>G c.(241-243)GCA>GCG p.A81A NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 81 PI3K-ABD. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GATTCACACATGCAAACATAT 0.368 NaN 0 0 0 0.010504 0 21 99 IGSF10 285313 broad.mit.edu 37 3 151161553 151161553 + Missense_Mutation SNP G G C rs143471166 TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:151161553G>C uc011bod.1 - 5 5182 c.5182C>G c.(5182-5184)CTG>GTG p.L1728V IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1728 Ig-like C2-type 3. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGCCAAACAGATTGGATGCG 0.517 NaN 0 0 0 0.007835 0 41 47 DHX36 170506 broad.mit.edu 37 3 154018863 154018863 + Missense_Mutation SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:154018863T>C uc003ezy.3 - 10 1352 c.1271A>G c.(1270-1272)CAA>CGA p.Q424R DHX36_uc010hvq.2_Missense_Mutation_p.Q424R|DHX36_uc003ezz.3_Missense_Mutation_p.Q424R NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 424 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TACATGCCCTTGCATGAAACC 0.328 NaN 0 0 0 0.01441 0 60 83 TP63 8626 broad.mit.edu 37 3 189349307 189349307 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:189349307G>A uc003fry.2 + 1 92 c.3G>A c.(1-3)ATG>ATA p.M1I TP63_uc003frx.2_Missense_Mutation_p.M1I|TP63_uc003frz.2_Missense_Mutation_p.M1I|TP63_uc010hzc.1_Missense_Mutation_p.M1I NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 1 Transcription activation. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TGAAGGAAATGAATTTTGAAA 0.373 NaN Hay-Wells_syndrome HNSCC(45;0.13) 0 0 0 0.01441 0 61 127 SLC34A2 10568 broad.mit.edu 37 4 25677925 25677925 + Missense_Mutation SNP A A T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr4:25677925A>T uc003grr.2 + 13 1708 c.1627A>T c.(1627-1629)ACG>TCG p.T543S SLC34A2_uc003grs.2_Missense_Mutation_p.T542S|SLC34A2_uc010iev.2_Missense_Mutation_p.T542S NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 543 Helical; Name=M7; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) GATCCCGCTGACGGTGTTTGG 0.607 NaN 0 0 0 0.01441 0 48 73 TMPRSS11B 132724 broad.mit.edu 37 4 69101967 69101967 + Missense_Mutation SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr4:69101967G>T uc003hdw.3 - 3 278 c.142C>A c.(142-144)CAA>AAA p.Q48K NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 48 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 AAATCACCTTGATAATAGTAA 0.328 NaN 1 0 2.56e-06 0.009096 2.68944e-06 3 18 ANK2 287 broad.mit.edu 37 4 114170923 114170923 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr4:114170923G>A uc003ibe.3 + 10 995 c.895G>A c.(895-897)GGG>AGG p.G299R ANK2_uc003ibd.3_Missense_Mutation_p.G278R|ANK2_uc003ibf.3_Missense_Mutation_p.G299R|ANK2_uc003ibc.2_Missense_Mutation_p.G275R|ANK2_uc011cgb.1_Missense_Mutation_p.G314R NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 299 ANK 9. 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) TTGGCAGGATGGGTTGACACC 0.458 NaN 0 0 0 0.001168 0 5 22 FGA 2243 broad.mit.edu 37 4 155508016 155508016 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr4:155508016C>A uc003iod.1 - 5 623 c.565G>T c.(565-567)GCT>TCT p.A189S FGA_uc003ioe.1_Missense_Mutation_p.A189S|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 189 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) ACTTCACGAGCTAAAGCCCTA 0.418 NaN 1 0 0.00198382 0.001984 0.00203832 6 75 GUCY1A3 2982 broad.mit.edu 37 4 156631990 156631990 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr4:156631990G>A uc003iov.2 + 7 1209 c.673G>A c.(673-675)GTA>ATA p.V225I GUCY1A3_uc003iou.2_Missense_Mutation_p.V225I|GUCY1A3_uc010iqc.2_Missense_Mutation_p.V225I|GUCY1A3_uc003iow.2_Missense_Mutation_p.V225I|GUCY1A3_uc010iqd.2_Missense_Mutation_p.V224I|GUCY1A3_uc003iox.2_Missense_Mutation_p.V225I|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.V225I|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.V225I NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 225 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) AGCTGCTCACGTATTATATGA 0.448 NaN 0 0 0 0.00632 0 29 74 HMGB2 3148 broad.mit.edu 37 4 174253977 174253977 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr4:174253977C>T uc011ckc.1 - 3 586 c.466G>A c.(466-468)GAA>AAA p.E156K HMGB2_uc003ita.3_Missense_Mutation_p.E156K|HMGB2_uc003itb.2_Missense_Mutation_p.E156K|HMGB2_uc003itc.2_3'UTR NM_001130689 NP_001124161 P26583 HMGB2_HUMAN high-mobility group box 2 156 HMG box 2. base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding 0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TGTACCTTTTCATATTTCTCC 0.363 NaN 0 0 0 0.01441 0 85 116 NPR3 4883 broad.mit.edu 37 5 32780872 32780872 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr5:32780872G>A uc003jhv.2 + 5 1458 c.1240G>A c.(1240-1242)GGG>AGG p.G414R NPR3_uc010iuo.2_Missense_Mutation_p.G198R|NPR3_uc011cnz.1_Missense_Mutation_p.G198R|NPR3_uc003jhu.2_Missense_Mutation_p.G414R NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 414 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) AGACCGATATGGGGATTTCTC 0.547 NaN 0 0 0 0.01441 0 70 148 BDP1 55814 broad.mit.edu 37 5 70761989 70761989 + Silent SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr5:70761989A>G uc003kbp.1 + 5 989 c.726A>G c.(724-726)CCA>CCG p.P242P BDP1_uc003kbn.1_Silent_p.P242P|BDP1_uc003kbo.2_Silent_p.P242P NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 242 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ATGATGGGCCATTACTGGTTC 0.368 NaN 0 0 0 0.009718 0 41 53 ZNF608 57507 broad.mit.edu 37 5 123983756 123983756 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr5:123983756G>C uc003ktq.1 - 4 2444 c.2321C>G c.(2320-2322)ACT>AGT p.T774S ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.T774S|ZNF608_uc003ktt.1_Missense_Mutation_p.T774S NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 774 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CTGAACAACAGTTGTTGTGAG 0.552 NaN 0 0 0 0.000602 0 5 81 GRM6 2916 broad.mit.edu 37 5 178416401 178416401 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr5:178416401C>T uc003mjr.2 - 5 1197 c.1018G>A c.(1018-1020)GAC>AAC p.D340N GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 340 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AAGTACTGGTCAAATCCTACA 0.527 NaN 0 0 0 0.013537 0 13 68 GRM6 2916 broad.mit.edu 37 5 178416406 178416406 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr5:178416406C>T uc003mjr.2 - 5 1192 c.1013G>A c.(1012-1014)GGA>GAA p.G338E GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 338 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CTGGTCAAATCCTACAGACAG 0.532 NaN 0 0 0 0.008291 0 11 66 TFAP2A 7020 broad.mit.edu 37 6 10410399 10410399 + Missense_Mutation SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr6:10410399G>A uc003myr.2 - 2 467 c.215C>T c.(214-216)CCT>CTT p.P72L TFAP2A_uc003myq.2_Missense_Mutation_p.P66L|TFAP2A_uc003mys.2_Intron|TFAP2A_uc011dih.1_Missense_Mutation_p.P72L|TFAP2A_uc003myt.2_Missense_Mutation_p.P68L|TFAP2A_uc003myu.1_Missense_Mutation_p.P72L|TFAP2A_uc003myv.1_Missense_Mutation_p.P58L|TFAP2A_uc011dii.1_Missense_Mutation_p.P68L|uc003myw.2_5'Flank NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 72 Gln/Pro-rich (transactivation domain). ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding p.P66R(1) ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) GTGGGAGTAAGGATCTTGCGA 0.672 NaN 0 0 0 0.004482 0 8 63 OR2W1 26692 broad.mit.edu 37 6 29012935 29012935 + Silent SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr6:29012935A>G uc003nlw.2 - 1 18 c.18T>C c.(16-18)TAT>TAC p.Y6Y NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GTAAAGAACTATAATTGCTTT 0.284 NaN 0 0 0 0.00632 0 28 51 CCHCR1 54535 broad.mit.edu 37 6 31110378 31110378 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr6:31110378C>T uc003nsr.3 - 18 2463 c.2340G>A c.(2338-2340)ATG>ATA p.M780I CCHCR1_uc011dne.1_Missense_Mutation_p.M766I|CCHCR1_uc003nsq.3_Missense_Mutation_p.M833I|CCHCR1_uc003nsp.3_Missense_Mutation_p.M869I NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 780 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 CTTAGCTGCTCATCTGGGGAT 0.577 NaN 0 0 0 0.004007 0 17 36 PGC 5225 broad.mit.edu 37 6 41712175 41712175 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr6:41712175G>A uc003ora.1 - 3 337 c.288C>T c.(286-288)AAC>AAT p.N96N NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 96 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GCACCCACAAGTTGGAGGAGC 0.612 NaN 0 0 0 0.014323 0 21 50 TRERF1 55809 broad.mit.edu 37 6 42203985 42203985 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr6:42203985C>A uc003osd.2 - 16 3587 c.3024G>T c.(3022-3024)CAG>CAT p.Q1008H TRERF1_uc011duq.1_Missense_Mutation_p.Q925H|TRERF1_uc003osb.2_Missense_Mutation_p.Q764H|TRERF1_uc003osc.2_Missense_Mutation_p.Q764H|TRERF1_uc003ose.2_Missense_Mutation_p.Q1028H NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1008 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGCCTGAGGGCTGGCCCAGGG 0.627 NaN 1 0 2.0095e-06 0.001984 2.13509e-06 6 14 DPPA5 340168 broad.mit.edu 37 6 74063929 74063929 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr6:74063929C>T uc003pgs.1 - 1 25 c.20G>A c.(19-21)CGT>CAT p.R7H NM_001025290 NP_001020461 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 7 multicellular organismal development cytoplasm RNA binding 0 GATATGTCTACGTGCCGGGAG 0.572 NaN 0 0 0 0.009096 0 4 29 TPBG 7162 broad.mit.edu 37 6 83075858 83075858 + Missense_Mutation SNP G G T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr6:83075858G>T uc003pjn.3 + 3 2116 c.1180G>T c.(1180-1182)GAT>TAT p.D394Y TPBG_uc010kbj.2_Missense_Mutation_p.D394Y|TPBG_uc003pjo.2_Missense_Mutation_p.D394Y NM_006670 NP_006661 Q13641 TPBG_HUMAN trophoblast glycoprotein precursor 394 Cytoplasmic (Potential). cell adhesion integral to plasma membrane central_nervous_system(1) 1 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) TGCCTGCAGGGATCACATGGA 0.423 NaN 1 0 1.50039e-11 0.012319 1.68008e-11 19 63 C6orf97 80129 broad.mit.edu 37 6 151907137 151907137 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr6:151907137G>A uc003qol.2 + 7 1295 c.1206G>A c.(1204-1206)GAG>GAA p.E402E NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 402 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) ATATGTTGGAGACTCTTCAGG 0.473 NaN 0 0 0 0.000602 0 4 13 ETV1 2115 broad.mit.edu 37 7 13971355 13971355 + Missense_Mutation SNP C C G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr7:13971355C>G uc011jxq.1 - 9 1313 c.574G>C c.(574-576)GAA>CAA p.E192Q ETV1_uc011jxn.1_Missense_Mutation_p.E152Q|ETV1_uc011jxo.1_Missense_Mutation_p.E89Q|ETV1_uc011jxp.1_Missense_Mutation_p.E134Q|ETV1_uc003ssw.3_Missense_Mutation_p.E192Q|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.E174Q|ETV1_uc011jxs.1_Missense_Mutation_p.E174Q|ETV1_uc010ktv.2_Missense_Mutation_p.E61Q NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 192 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 TTACAGGGTTCAGAAAGCTGG 0.468 NaN T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 0 0 0 0.004482 0 6 34 EVX1 2128 broad.mit.edu 37 7 27282715 27282715 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr7:27282715G>C uc003szd.1 + 1 552 c.66G>C c.(64-66)AAG>AAC p.K22N EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Missense_Mutation_p.K22N NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 22 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TGGTTGGCAAGAGAGTCTCAA 0.652 NaN 0 0 0 0.001168 0 4 8 CCDC129 223075 broad.mit.edu 37 7 31683174 31683174 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr7:31683174C>T uc003tcj.1 + 11 3183 c.2190C>T c.(2188-2190)CCC>CCT p.P730P CCDC129_uc011kad.1_Silent_p.P740P|CCDC129_uc003tci.1_Silent_p.P581P|CCDC129_uc011kae.1_Silent_p.P756P|CCDC129_uc003tck.1_Silent_p.P638P NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 730 0 GGACTGGTCCCAGAGGAACAT 0.507 NaN 0 0 0 0.004007 0 16 50 TXNDC3 51314 broad.mit.edu 37 7 37904018 37904018 + Missense_Mutation SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr7:37904018A>G uc003tfn.2 + 9 895 c.523A>G c.(523-525)AGA>GGA p.R175G NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 175 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 AGAAATTAAAAGAAAAGTAAG 0.274 NaN Kartagener_syndrome 0 0 0 0.004672 0 3 12 ZMIZ2 83637 broad.mit.edu 37 7 44795867 44795867 + Missense_Mutation SNP A A G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr7:44795867A>G uc003tlr.2 + 2 142 c.19A>G c.(19-21)ATG>GTG p.M7V ZMIZ2_uc003tlq.2_Missense_Mutation_p.M7V|ZMIZ2_uc003tls.2_Missense_Mutation_p.M7V NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 7 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 CATGAACCCCATGAAACCTGC 0.607 NaN 0 0 0 0.008871 0 19 35 ADCY1 107 broad.mit.edu 37 7 45726145 45726145 + Splice_Site SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr7:45726145G>A uc003tne.3 + 14 2346 c.2328_splice c.e14-1 p.G776_splice NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCTTCCCCCAGGGGTGGTGCC 0.612 NaN 0 0 0 0.001855 0 12 30 ZNF804B 219578 broad.mit.edu 37 7 88963715 88963715 + Silent SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr7:88963715T>C uc011khi.1 + 4 1957 c.1419T>C c.(1417-1419)TAT>TAC p.Y473Y NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 473 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GTATCTCTTATGGCTGCAACC 0.433 NaN HNSCC(36;0.09) 0 0 0 0.003954 0 25 59 CSMD1 64478 broad.mit.edu 37 8 2824091 2824091 + Splice_Site SNP C C G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr8:2824091C>G uc011kwk.1 - 58 9493 c.9103_splice c.e58+1 p.I3035_splice CSMD1_uc011kwj.1_Splice_Site_p.I2364_splice|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCTTACTAACTTGTGCAGTC 0.443 NaN 0 0 0 0.000602 0 5 12 ZFHX4 79776 broad.mit.edu 37 8 77767234 77767234 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr8:77767234C>T uc003yav.2 + 10 8329 c.7942C>T c.(7942-7944)CAC>TAC p.H2648Y ZFHX4_uc003yau.1_Missense_Mutation_p.H2693Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.H2648Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2648 C2H2-type 17. 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) CTTAGAAAGCCACATTCGCTC 0.542 NaN HNSCC(33;0.089) 0 0 0 0.008291 0 9 53 TRHR 7201 broad.mit.edu 37 8 110131363 110131363 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr8:110131363C>T uc003ymz.3 + 2 892 c.876C>T c.(874-876)CTC>CTT p.L292L NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 292 Extracellular (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) ACTCATTTCTCTCCAGTCCTT 0.428 NaN 0 0 0 0.01441 0 118 206 PKHD1L1 93035 broad.mit.edu 37 8 110439238 110439238 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr8:110439238C>T uc003yne.2 + 25 2957 c.2853C>T c.(2851-2853)CCC>CCT p.P951P NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 951 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAGGCCTCCCCGCTGCTGTGT 0.438 NaN HNSCC(38;0.096) 0 0 0 0.004007 0 17 85 NOV 4856 broad.mit.edu 37 8 120428805 120428805 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr8:120428805C>T uc003yoq.2 + 1 254 c.33C>T c.(31-33)CTC>CTT p.L11L NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 11 regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTTTTGTCTCCGAAAGCAGT 0.542 NaN OREG0018940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 13 FER1L6 654463 broad.mit.edu 37 8 125072849 125072849 + Missense_Mutation SNP C C G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr8:125072849C>G uc003yqw.2 + 24 3252 c.3046C>G c.(3046-3048)CAG>GAG p.Q1016E uc003yqy.1_RNA NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1016 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GGATCGGCCTCAGGCTCTCAT 0.542 NaN 0 0 0 0.00333 0 25 39 DOCK8 81704 broad.mit.edu 37 9 429743 429743 + Silent SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:429743C>T uc003zgf.2 + 36 4627 c.4515C>T c.(4513-4515)TTC>TTT p.F1505F DOCK8_uc010mgu.2_Silent_p.F807F|DOCK8_uc010mgv.2_Silent_p.F1405F|DOCK8_uc003zgk.2_Silent_p.F963F NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1505 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AACAGTGTTTCGACCTATGTC 0.502 NaN 0 0 0 0.01441 0 60 18 RLN1 6013 broad.mit.edu 37 9 5339616 5339616 + Missense_Mutation SNP A A T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:5339616A>T uc003zjb.1 - 1 258 c.131T>A c.(130-132)ATT>AAT p.I44N NM_006911 NP_008842 P04808 REL1_HUMAN relaxin 1 preproprotein 44 female pregnancy|signal transduction extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984) GCAAATGGCAATCTGCGCGCG 0.527 NaN 0 0 0 0.009096 0 4 56 MPDZ 8777 broad.mit.edu 37 9 13205963 13205963 + Missense_Mutation SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:13205963C>A uc010mia.1 - 10 1483 c.1426G>T c.(1426-1428)GTC>TTC p.V476F MPDZ_uc010mhy.2_Missense_Mutation_p.V476F|MPDZ_uc010mhz.2_Missense_Mutation_p.V476F|MPDZ_uc011lmn.1_Missense_Mutation_p.V476F|MPDZ_uc003zlb.3_Missense_Mutation_p.V476F NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 476 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TCTTTTGTGACGTCTTCCCTT 0.418 NaN 1 0 2.56e-06 0.009096 2.68944e-06 4 39 ARID3C 138715 broad.mit.edu 37 9 34622477 34622477 + Silent SNP T T C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:34622477T>C uc011lon.1 - 5 915 c.915A>G c.(913-915)GCA>GCG p.A305A DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 305 REKLES.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TAGGTCCCAGTGCCAGGCCCA 0.582 NaN 0 0 0 0.010771 0 44 34 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:35906559A>C uc003zyr.1 + 1 371 c.275A>C c.(274-276)CAC>CCC p.H92P LOC158376_uc003zys.1_5'Flank NM_001039792 NP_001034881 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane 0 caccaccaccacccccgccac 0.393 NaN 0 0 0 0.013537 0 7 8 DFNB31 25861 broad.mit.edu 37 9 117186682 117186682 + Missense_Mutation SNP G G C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:117186682G>C uc004biz.3 - 6 1997 c.1348C>G c.(1348-1350)CGT>GGT p.R450G DFNB31_uc004bix.2_Missense_Mutation_p.R99G|DFNB31_uc004biy.3_Missense_Mutation_p.R67G|DFNB31_uc004bja.3_Missense_Mutation_p.R450G NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 450 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 CTGCCACCACGGTACTCATCC 0.632 NaN 0 0 0 0.010729 0 12 56 TSC1 7248 broad.mit.edu 37 9 135777087 135777087 + Splice_Site SNP C C A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:135777087C>A uc004cca.2 - 19 2626 c.2392_splice c.e19-1 p.T798_splice TSC1_uc004ccb.3_Splice_Site_p.T797_splice|TSC1_uc011mcq.1_Splice_Site_p.T747_splice|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CCAGCTTCGTCTGCCCAAAGA 0.547 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis OREG0019577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 7.73544e-29 0.01441 9.21355e-29 68 42 SNAPC4 6621 broad.mit.edu 37 9 139276292 139276292 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:139276292G>A uc004chh.2 - 17 2310 c.2301C>T c.(2299-2301)GCC>GCT p.A767A NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 767 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TCTGCACTACGGCGGGTCTCT 0.642 NaN 0 0 0 0.006214 0 9 36 KDM6A 7403 broad.mit.edu 37 X 44922802 44922802 + Nonsense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chrX:44922802C>T uc004dge.3 + 16 2038 c.1663C>T c.(1663-1665)CAG>TAG p.Q555* KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 555 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAGCGTCTCTCAGCCTGGAGT 0.567 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.005443 0 27 12 GPR173 54328 broad.mit.edu 37 X 53106253 53106253 + Silent SNP G G A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chrX:53106253G>A uc004dru.2 + 2 708 c.450G>A c.(448-450)CTG>CTA p.L150L NM_018969 NP_061842 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 150 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CCTGGACCCTGTCTGTGGCCA 0.587 NaN 0 0 0 0.010729 0 12 19 MAGEA10 4109 broad.mit.edu 37 X 151303231 151303231 + Missense_Mutation SNP C C T TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chrX:151303231C>T uc004ffk.2 - 5 1270 c.862G>A c.(862-864)GGC>AGC p.G288S MAGEA10_uc004ffl.2_Missense_Mutation_p.G288S NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 288 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GGATCACTGCCAGGCACCTGC 0.522 NaN 0 0 0 0.01441 0 69 36 OR8B2 26595 broad.mit.edu 37 11 124252689 124252690 + Frame_Shift_Ins INS - - G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr11:124252689_124252690insG uc010sai.1 - 1 550_551 c.550_551insC c.(550-552)CTCfs p.L184fs NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AAGCTGGAGGAGGGGGAGTATG 0.5 NaN NaN NaN NaN NaN NaN 11 57 --- --- SYT1 6857 broad.mit.edu 37 12 79842725 79842726 + In_Frame_Ins INS - - ACA TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr12:79842725_79842726insACA uc001sys.2 + 12 1761_1762 c.1090_1091insACA c.(1090-1092)GAC>GACAAC p.364_365insN SYT1_uc001syt.2_In_Frame_Ins_p.364_365insN|SYT1_uc001syu.2_In_Frame_Ins_p.361_362insN|SYT1_uc001syv.2_In_Frame_Ins_p.364_365insN NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 364_365 Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 2. detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 AACTGTTTTGGACTATGACAAG 0.49 NaN NaN NaN NaN NaN NaN 19 98 --- --- ZFP36L1 677 broad.mit.edu 37 14 69256673 69256674 + Frame_Shift_Ins INS - - A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 - A - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr14:69256673_69256674insA uc001xkh.1 - 2 723_724 c.593_594insT c.(592-594)CTCfs p.L198fs ZFP36L1_uc001xki.1_Frame_Shift_Ins_p.L198fs NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 198 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGCTATGCTGGAGGCGGGGACG 0.584 NaN OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 29 29 --- --- PDIA3 2923 broad.mit.edu 37 15 44055308 44055308 + Frame_Shift_Del DEL C C - TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr15:44055308delC uc001zsu.2 + 5 654 c.506delC c.(505-507)TCCfs p.S169fs PDIA3_uc010bdp.2_Frame_Shift_Del_p.S149fs|PDIA3_uc010ued.1_5'UTR NM_005313 NP_005304 P30101 PDIA3_HUMAN protein disulfide-isomerase A3 precursor 169 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1)|skin(1) 2 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) GAGGCTCACTCCGAGTTCCTA 0.398 NaN NaN NaN NaN NaN NaN 30 91 --- --- ZFP36L2 678 broad.mit.edu 37 2 43452553 43452554 + Frame_Shift_Ins INS - - C TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr2:43452553_43452554insC uc002rsv.3 - 2 680_681 c.389_390insG c.(388-390)CGCfs p.R130fs LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 130 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GGTGCTGGCTGCGATCGCCGTT 0.658 NaN NaN NaN NaN NaN NaN 11 16 --- --- OSBPL10 114884 broad.mit.edu 37 3 32022461 32022461 + Frame_Shift_Del DEL G G - TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:32022461delG uc003cev.2 - 2 592 c.211delC c.(211-213)CGCfs p.R71fs OSBPL10_uc011axf.1_Frame_Shift_Del_p.R71fs|ZNF860_uc011axg.1_5'Flank NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN oxysterol-binding protein-like protein 10 71 lipid transport lipid binding skin(1) 1 STAD - Stomach adenocarcinoma(1;0.00406) TCCCTCCTGCGGCCGCCTCCC 0.642 NaN NaN NaN NaN NaN NaN 8 5 --- --- PLD1 5337 broad.mit.edu 37 3 171404550 171404550 + Frame_Shift_Del DEL G G - TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:171404550delG uc003fhs.2 - 16 1908 c.1792delC c.(1792-1794)CATfs p.H598fs PLD1_uc003fht.2_Intron NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 598 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TTTAAACCATGGATTAAATTG 0.333 NaN NaN NaN NaN NaN NaN 56 153 --- --- HES1 3280 broad.mit.edu 37 3 193854476 193854478 + In_Frame_Del DEL TGA TGA - TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr3:193854476_193854478delTGA uc003ftq.1 + 2 415_417 c.179_181delTGA c.(178-183)CTGATT>CTT p.I61del HES1_uc011bst.1_In_Frame_Del_p.I61del NM_005524 NP_005515 Q14469 HES1_HUMAN hairy and enhancer of split 1 61 Helix-loop-helix motif. endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1) 2 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) CTGAAAACACTGATTTTGGATGC 0.389 NaN NaN NaN NaN NaN NaN 23 48 --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr7:92146721delT uc003uly.2 - 5 1204 c.1108delA c.(1108-1110)ATTfs p.I370fs PEX1_uc011khr.1_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.2_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 NaN NaN NaN NaN NaN NaN 7 164 --- --- EBF2 64641 broad.mit.edu 37 8 25718601 25718601 + Frame_Shift_Del DEL C C - TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr8:25718601delC uc003xes.1 - 13 1323 c.1306delG c.(1306-1308)GTCfs p.V436fs PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 436 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GAGATGCTGACCCCAAGCTGG 0.493 NaN NaN NaN NaN NaN NaN 53 63 --- --- PHF20L1 51105 broad.mit.edu 37 8 133854841 133854842 + Frame_Shift_Ins INS - - A TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr8:133854841_133854842insA uc003ytt.2 + 19 2794_2795 c.2469_2470insA c.(2467-2472)GAGAAAfs p.E823fs PHF20L1_uc011lja.1_Frame_Shift_Ins_p.E797fs NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 823_824 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CTGGGGTGGAGAAAAAAATAGC 0.381 NaN NaN NaN NaN NaN NaN 12 26 --- --- OR13C5 138799 broad.mit.edu 37 9 107361451 107361452 + Frame_Shift_Del DEL GC GC - TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:107361451_107361452delGC uc011lvp.1 - 1 243_244 c.243_244delGC c.(241-246)ACGCTAfs p.T81fs NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, 81_82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 AAGCTCACTAGCGTGGAGGGAA 0.51 NaN NaN NaN NaN NaN NaN 7 55 --- --- PTPN3 5774 broad.mit.edu 37 9 112151578 112151590 + Frame_Shift_Del DEL GCCAAAACTGTGC GCCAAAACTGTGC - TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1948230a-2e9d-4557-b37e-dfee2537901b aebf15c2-06c0-45fd-873c-1f784bb15385 g.chr9:112151578_112151590delGCCAAAACTGTGC uc004bed.2 - 22 2288_2300 c.2176_2188delGCACAGTTTTGGC c.(2176-2190)GCACAGTTTTGGCAGfs p.A726fs PTPN3_uc004beb.2_Frame_Shift_Del_p.A595fs|PTPN3_uc004bec.2_Frame_Shift_Del_p.A550fs|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Frame_Shift_Del_p.A681fs|PTPN3_uc011lwh.1_Frame_Shift_Del_p.A572fs|PTPN3_uc011lwd.1_Frame_Shift_Del_p.A194fs|PTPN3_uc011lwe.1_Frame_Shift_Del_p.A439fs|PTPN3_uc011lwf.1_Frame_Shift_Del_p.A394fs NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 726_730 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 CAGACAACCTGCCAAAACTGTGCACAGGTATGC 0.465 NaN NaN NaN NaN NaN NaN 16 21 --- ---