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 FAM132A 388581 broad.mit.edu 37 1 1179802 1179802 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:1179802C>G uc001adl.1 - 2 285 c.253G>C c.(253-255)GGC>CGC p.G85R NM_001014980 NP_001014980 Q5T7M4 F132A_HUMAN family with sequence similarity 132, member A 85 extracellular region 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-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) CTTAAGGCGCCGTCGTCCGGC 0.677 UBE2J2 118424 broad.mit.edu 37 1 1190787 1190787 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:1190787G>A uc001adn.2 - 7 886 c.576C>T c.(574-576)GAC>GAT p.D192D UBE2J2_uc001adm.2_Silent_p.D157D|UBE2J2_uc001ado.2_Silent_p.D208D|UBE2J2_uc001adp.2_Silent_p.D192D|UBE2J2_uc001adq.2_Silent_p.D140D|UBE2J2_uc001adr.2_Silent_p.D140D|UBE2J2_uc001ads.2_Silent_p.D140D NM_194458 NP_919440 Q8N2K1 UB2J2_HUMAN ubiquitin conjugating enzyme E2, J2 isoform 3 192 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase 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;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) GCGTCTCCCCGTCTGGAACCA 0.587 KIAA0562 9731 broad.mit.edu 37 1 3732035 3732035 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:3732035G>A uc001aky.2 - 22 3068 c.2709C>T c.(2707-2709)GCC>GCT p.A903A KIAA0562_uc010nzm.1_RNA NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 903 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) TCTTGCTTCCGGCCTTTGACC 0.642 PLEKHG5 57449 broad.mit.edu 37 1 6537676 6537676 + Missense_Mutation SNP G G C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:6537676G>C uc001ano.1 - 3 225 c.124C>G c.(124-126)CCC>GCC p.P42A PLEKHG5_uc001ann.1_Missense_Mutation_p.P23A|PLEKHG5_uc001anq.1_Missense_Mutation_p.P63A|PLEKHG5_uc001anp.1_Missense_Mutation_p.P63A|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.P55A|PLEKHG5_uc001ank.1_5'UTR|PLEKHG5_uc009vmb.1_5'UTR|PLEKHG5_uc001anl.1_5'UTR|PLEKHG5_uc001anm.1_5'UTR NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 42 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) AGGTTGAGGGGCCCCCGGCGG 0.632 ENO1 2023 broad.mit.edu 37 1 8922984 8922984 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:8922984G>A uc001apj.1 - 11 1348 c.1197C>T c.(1195-1197)TGC>TGT p.C399C ENO1_uc001api.1_Silent_p.C303C|ENO1_uc001apk.1_Silent_p.C344C|ENO1_uc001apl.1_Intron|ENO1_uc009vmi.1_Silent_p.C356C|ENO1_uc009vmj.1_Intron|ENO1_uc009vmk.1_Silent_p.C273C NM_001428 NP_001419 P06733 ENOA_HUMAN enolase 1 399 gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|kidney(1)|central_nervous_system(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GCTCAGATCGGCAAGGGGCAC 0.562 OREG0013068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SPEN 23013 broad.mit.edu 37 1 16256697 16256697 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:16256697C>T uc001axk.1 + 11 4166 c.3962C>T c.(3961-3963)GCA>GTA p.A1321V SPEN_uc010obp.1_Missense_Mutation_p.A1280V NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 1321 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GAACAGATGGCAGATATGGCC 0.378 SPEN 23013 broad.mit.edu 37 1 16259137 16259137 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:16259137A>G uc001axk.1 + 11 6606 c.6402A>G c.(6400-6402)TCA>TCG p.S2134S SPEN_uc010obp.1_Silent_p.S2093S NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2134 Interaction with MSX2 (By similarity). interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ATGGTTTATCATCCCAGTTGA 0.567 CROCC 9696 broad.mit.edu 37 1 17250929 17250929 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:17250929C>T uc001azt.2 + 3 375 c.306C>T c.(304-306)GCC>GCT p.A102A CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 102 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGAGCCGTGCCGAGCGCGATG 0.662 ARHGEF10L 55160 broad.mit.edu 37 1 17958909 17958909 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:17958909C>A uc001ban.2 + 16 1837 c.1678C>A c.(1678-1680)CGT>AGT p.R560S ARHGEF10L_uc009vpe.1_Missense_Mutation_p.R521S|ARHGEF10L_uc001bao.2_Missense_Mutation_p.R521S|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R521S|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.R318S|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R326S|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R338S|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R268S|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 560 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GTCCAAGGAGCGTCGGGTCTT 0.597 KLHDC7A 127707 broad.mit.edu 37 1 18807675 18807675 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:18807675C>T uc001bax.2 + 1 252 c.200C>T c.(199-201)GCT>GTT p.A67V KLHDC7A_uc009vpg.2_5'UTR NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 67 integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGGCAGCCTGCTGTACAGGAG 0.652 KLHDC7A 127707 broad.mit.edu 37 1 18809031 18809031 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:18809031G>A uc001bax.2 + 1 1608 c.1556G>A c.(1555-1557)CGC>CAC p.R519H KLHDC7A_uc009vpg.2_Missense_Mutation_p.R301H NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 519 Kelch 2. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GATGTCTGGCGCCCGCTGGCT 0.682 HTR6 3362 broad.mit.edu 37 1 19992413 19992413 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:19992413C>T uc001bcl.2 + 1 634 c.167C>T c.(166-168)GCG>GTG p.A56V NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 56 Helical; Name=1; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) ACTCAGCCCGCGCTGCGCAAC 0.547 MUL1 79594 broad.mit.edu 37 1 20827514 20827514 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:20827514A>G uc001bdi.3 - 4 885 c.728T>C c.(727-729)CTG>CCG p.L243P NM_024544 NP_078820 Q969V5 MUL1_HUMAN mitochondrial ubiquitin ligase activator of NFKB 243 Helical; (Potential). activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) AACCAGCGCCAGCACCTTCCA 0.592 SH2D5 400745 broad.mit.edu 37 1 21052443 21052443 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:21052443G>A uc001bdt.1 - 4 733 c.108C>T c.(106-108)TGC>TGT p.C36C SH2D5_uc009vpy.1_Silent_p.C120C|SH2D5_uc001bdu.1_Intron NM_001103160 NP_001096630 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 isoform 2 36 0 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAAAGAGGTGGCAGAAGAGCT 0.652 EPHB2 2048 broad.mit.edu 37 1 23208888 23208888 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:23208888G>A uc009vqj.1 + 6 1485 c.1340G>A c.(1339-1341)CGC>CAC p.R447H EPHB2_uc001bge.2_Missense_Mutation_p.R447H|EPHB2_uc001bgf.2_Missense_Mutation_p.R447H|EPHB2_uc010odu.1_Missense_Mutation_p.R447H NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 447 Fibronectin type-III 2.|Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CAGGTGAGCCGCACCGTGGAC 0.592 Hereditary_Prostate_Cancer TCEB3 6924 broad.mit.edu 37 1 24083458 24083458 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:24083458G>A uc001bho.2 + 10 2238 c.2178G>A c.(2176-2178)CCG>CCA p.P726P NM_003198 NP_003189 Q14241 ELOA1_HUMAN elongin A 726 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AGCCAGCCCCGTACCCCATGG 0.582 SRRM1 10250 broad.mit.edu 37 1 24989225 24989225 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:24989225C>T uc001bjm.2 + 12 1782 c.1558C>T c.(1558-1560)CGG>TGG p.R520W SRRM1_uc010oel.1_Missense_Mutation_p.R518W|SRRM1_uc009vrh.1_Missense_Mutation_p.R479W|SRRM1_uc009vri.1_Missense_Mutation_p.R435W|SRRM1_uc010oem.1_RNA NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 520 Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GGTTGGCAGGCGGCGGAGACA 0.478 LIN28A 79727 broad.mit.edu 37 1 26751934 26751934 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:26751934G>A uc001bmj.2 + 3 483 c.369G>A c.(367-369)CGG>CGA p.R123R LIN28A_uc001bmi.1_RNA NM_024674 NP_078950 Q9H9Z2 LN28A_HUMAN lin-28 homolog 123 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1) 1 GTGAGAGGCGGCCAAAAGGAA 0.512 WASF2 10163 broad.mit.edu 37 1 27744891 27744891 + Missense_Mutation SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:27744891A>T uc001bof.1 - 4 514 c.298T>A c.(298-300)TTC>ATC p.F100I WASF2_uc010ofl.1_Missense_Mutation_p.F100I NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 100 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding skin(2)|ovary(1) 3 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) GAACTTCTGAAGGCTTTTCGG 0.463 AHDC1 27245 broad.mit.edu 37 1 27875066 27875066 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:27875066G>A uc009vsy.2 - 6 4530 c.3561C>T c.(3559-3561)AGC>AGT p.S1187S AHDC1_uc009vsz.1_Silent_p.S1187S NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1187 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TTGAGGCCTCGCTGTTGGCAC 0.607 RPA2 6118 broad.mit.edu 37 1 28218705 28218705 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:28218705T>G uc001bpe.1 - 9 1064 c.782A>C c.(781-783)GAT>GCT p.D261A RPA2_uc001bpd.1_Missense_Mutation_p.D269A|RPA2_uc010ofp.1_Missense_Mutation_p.D165A NM_002946 NP_002937 P15927 RFA2_HUMAN replication protein A2, 32kDa 261 Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity). cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body protein phosphatase binding|single-stranded DNA binding skin(1) 1 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) AAAATGGTCATCATCCACAGT 0.403 Direct_reversal_of_damage|NER PTPRU 10076 broad.mit.edu 37 1 29638251 29638251 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:29638251C>T uc001bru.2 + 22 3192 c.3082C>T c.(3082-3084)CGC>TGC p.R1028C PTPRU_uc001brv.2_Missense_Mutation_p.R1024C|PTPRU_uc001brw.2_Missense_Mutation_p.R1018C|PTPRU_uc009vtq.2_Missense_Mutation_p.R1024C|PTPRU_uc009vtr.2_Missense_Mutation_p.R1015C NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1028 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GTATGTCGTGCGCACTTTTGC 0.602 NCDN 23154 broad.mit.edu 37 1 36028856 36028856 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:36028856T>A uc001bza.2 + 6 1566 c.1439T>A c.(1438-1440)ATC>AAC p.I480N NCDN_uc001bzb.2_Missense_Mutation_p.I480N|NCDN_uc001bzc.2_Missense_Mutation_p.I463N NM_001014839 NP_001014839 Q9UBB6 NCDN_HUMAN neurochondrin isoform 1 480 neuron projection development cytosol|dendrite|neuronal cell body large_intestine(2)|pancreas(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCCCGGGAGATCCTGATCAAG 0.612 CSF3R 1441 broad.mit.edu 37 1 36932116 36932116 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:36932116T>C uc001caw.1 - 17 2531 c.2353A>G c.(2353-2355)AAG>GAG p.K785E MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Missense_Mutation_p.K347E|CSF3R_uc009vvc.1_Missense_Mutation_p.K314E|CSF3R_uc001cau.1_Missense_Mutation_p.K185E|CSF3R_uc001cav.1_Intron|CSF3R_uc001cax.1_Missense_Mutation_p.K812E|CSF3R_uc001cay.1_Silent_p.P753P NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 785 Cytoplasmic (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TCATAGGACTTGGGGCTGGGG 0.647 MTF1 4520 broad.mit.edu 37 1 38304324 38304324 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:38304324C>T uc001cce.1 - 4 893 c.752G>A c.(751-753)CGA>CAA p.R251Q MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 251 C2H2-type 4. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGTATGAGTTCGAATGTGCTT 0.438 RLF 6018 broad.mit.edu 37 1 40702626 40702626 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:40702626C>T uc001cfc.3 + 8 2283 c.2252C>T c.(2251-2253)GCT>GTT p.A751V RLF_uc001cfd.3_Missense_Mutation_p.A442V NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 751 C2H2-type 4. 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) GATTGCTATGCTAGGTTTGGA 0.383 SMAP2 64744 broad.mit.edu 37 1 40880951 40880951 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:40880951T>C uc001cfj.2 + 7 644 c.579T>C c.(577-579)CCT>CCC p.P193P SMAP2_uc010ojh.1_Silent_p.P193P|SMAP2_uc001cfk.2_Silent_p.P163P|SMAP2_uc010oji.1_Silent_p.P110P|SMAP2_uc010ojj.1_Silent_p.P9P NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 193 Interaction with clathrin heavy chains (By similarity). regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) TAGATGCTCCTGTGGCCTGCT 0.458 ZNF642 339559 broad.mit.edu 37 1 40961306 40961306 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:40961306A>G uc001cfo.2 + 6 1450 c.1156A>G c.(1156-1158)AAT>GAT p.N386D ZNF642_uc009vwb.2_Missense_Mutation_p.N386D|ZNF642_uc010ojk.1_Missense_Mutation_p.N387D NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 386 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) TTTTACTTGCAATGAATGTGG 0.393 RIMKLA 284716 broad.mit.edu 37 1 42880544 42880544 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:42880544C>T uc001chi.2 + 5 1213 c.1075C>T c.(1075-1077)CGG>TGG p.R359W NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family 359 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 GGGAGAGATCCGGGATTCCTC 0.527 ZMYND12 84217 broad.mit.edu 37 1 42915622 42915622 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:42915622C>A uc001chj.2 - 2 489 c.219G>T c.(217-219)CGG>CGT p.R73R ZMYND12_uc010ojt.1_Missense_Mutation_p.A21S NM_032257 NP_115633 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 isoform 1 73 intracellular zinc ion binding ovary(1) 1 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGCCATGCTGCCGTTCTTCCT 0.542 CLDN19 149461 broad.mit.edu 37 1 43204130 43204130 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:43204130C>T uc001cht.1 - 2 541 c.350G>A c.(349-351)CGT>CAT p.R117H CLDN19_uc001chu.2_Missense_Mutation_p.R117H|CLDN19_uc010ojv.1_Missense_Mutation_p.R117H NM_148960 NP_683763 Q8N6F1 CLD19_HUMAN claudin 19 isoform a 117 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATGGCAACACGGCCCTTGGC 0.642 ARTN 9048 broad.mit.edu 37 1 44401350 44401350 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:44401350C>A uc001cks.2 + 3 804 c.22C>A c.(22-24)CTC>ATC p.L8I ARTN_uc001ckv.2_Missense_Mutation_p.L8I|ARTN_uc001ckt.2_Missense_Mutation_p.L8I|ARTN_uc001cku.2_Missense_Mutation_p.L8I|ARTN_uc001ckw.2_5'Flank NM_057091 NP_476432 Q5T4W7 ARTN_HUMAN neurotrophic factor artemin isoform 1 precursor 8 axon guidance|neuroblast proliferation|signal transduction extracellular region growth factor activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) ACTTGGAGGCCTCTCCACGCT 0.577 IPO13 9670 broad.mit.edu 37 1 44433043 44433043 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:44433043C>T uc001ckx.2 + 19 3465 c.2670C>T c.(2668-2670)TTC>TTT p.F890F IPO13_uc001cky.2_Silent_p.F108F NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 890 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) ATATCCTGTTCGCCCTGAACA 0.627 HECTD3 79654 broad.mit.edu 37 1 45473119 45473119 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:45473119C>T uc009vxk.2 - 10 1567 c.1469G>A c.(1468-1470)CGA>CAA p.R490Q HECTD3_uc001cmx.3_5'Flank|HECTD3_uc001cmy.3_Missense_Mutation_p.R100Q|HECTD3_uc010olh.1_Missense_Mutation_p.R206Q NM_024602 NP_078878 Q5T447 HECD3_HUMAN HECT domain containing 3 490 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity 0 Acute lymphoblastic leukemia(166;0.155) GGCAGGGTCTCGAGAGGGGCA 0.602 NSUN4 387338 broad.mit.edu 37 1 46826501 46826501 + Splice_Site SNP G G A rs142333016 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:46826501G>A uc001cpr.1 + 5 987 c.878_splice c.e5+1 p.A293_splice NSUN4_uc010omc.1_Splice_Site_p.A244_splice|NSUN4_uc009vyf.1_Splice_Site_p.A142_splice|NSUN4_uc009vyg.1_Splice_Site_p.A244_splice|NSUN4_uc001cpt.1_Splice_Site|NSUN4_uc001cps.1_Splice_Site NM_199044 NP_950245 Q96CB9 NSUN4_HUMAN NOL1/NOP2/Sun domain family 4 protein methyltransferase activity 0 Acute lymphoblastic leukemia(166;0.155) AGCTTCTTGCGTGAGTGACAG 0.498 CYP4Z1 199974 broad.mit.edu 37 1 47564887 47564887 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:47564887A>G uc001cqu.1 + 8 1001 c.998A>G c.(997-999)TAC>TGC p.Y333C NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 333 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 TTGGCAAAGTACCCTGAGCAT 0.468 ORC1L 4998 broad.mit.edu 37 1 52849543 52849543 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:52849543G>A uc001ctt.2 - 12 2041 c.1822C>T c.(1822-1824)CGA>TGA p.R608* ORC1L_uc010oni.1_Nonsense_Mutation_p.R603*|ORC1L_uc001ctu.2_Nonsense_Mutation_p.R608*|ORC1L_uc009vzd.2_Nonsense_Mutation_p.R362* NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 608 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 GGTGACCCTCGGGTGCAGAAT 0.542 DMRTB1 63948 broad.mit.edu 37 1 53925262 53925262 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:53925262C>T uc001cvq.1 + 1 191 c.136C>T c.(136-138)CGC>TGC p.R46C NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 46 DM. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GATCTCCGAGCGCCAGAAGAT 0.662 DNAJC6 9829 broad.mit.edu 37 1 65855087 65855087 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:65855087C>A uc001dcd.1 + 10 1335 c.1171C>A c.(1171-1173)CTC>ATC p.L391I DNAJC6_uc001dcc.1_Missense_Mutation_p.L422I|DNAJC6_uc010opc.1_Missense_Mutation_p.L378I|DNAJC6_uc001dce.1_Missense_Mutation_p.L448I NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 391 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 TCCCAGCATCCTCTTCTCTTC 0.433 SGIP1 84251 broad.mit.edu 37 1 67101641 67101641 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:67101641C>T uc001dcr.2 + 4 331 c.114C>T c.(112-114)CAC>CAT p.H38H NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 38 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 CCAGCCCACACGAACCACCCT 0.378 C1orf141 400757 broad.mit.edu 37 1 67558859 67558859 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:67558859A>G uc001ddl.1 - 7 1143 c.1032T>C c.(1030-1032)ACT>ACC p.T344T C1orf141_uc001ddm.1_Silent_p.T344T|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 344 ovary(1) 1 CAAATTTTCCAGTTTGGGCAC 0.348 SYDE2 84144 broad.mit.edu 37 1 85624662 85624662 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:85624662T>A uc009wcm.2 - 7 3405 c.3356A>T c.(3355-3357)GAT>GTT p.D1119V NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 1119 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) GATTTTTCTATCTTCTGAAGG 0.358 ZNF644 84146 broad.mit.edu 37 1 91404466 91404466 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:91404466A>G uc001dnw.2 - 3 2587 c.2445T>C c.(2443-2445)TCT>TCC p.S815S ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.S815S NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 815 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTCCTTCTTAGATTCCTTAA 0.378 CDC7 8317 broad.mit.edu 37 1 91985737 91985737 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:91985737C>T uc001doe.2 + 11 1396 c.1231C>T c.(1231-1233)CGA>TGA p.R411* CDC7_uc001dof.2_Nonsense_Mutation_p.R411*|CDC7_uc010osw.1_Nonsense_Mutation_p.R383*|CDC7_uc009wdc.2_Nonsense_Mutation_p.R411*|CDC7_uc009wdd.2_Intron NM_003503 NP_003494 O00311 CDC7_HUMAN cell division cycle 7 411 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 5 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GCTTAGTGGACGATATCCATT 0.318 RPAP2 79871 broad.mit.edu 37 1 92767148 92767148 + Splice_Site SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:92767148G>A uc001dot.2 + 3 343 c.234_splice c.e3+1 p.C78_splice RPAP2_uc009wdh.2_Splice_Site|GLMN_uc001dor.2_5'Flank|GLMN_uc009wdg.2_5'Flank|GLMN_uc001dos.2_5'Flank NM_024813 NP_079089 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) AATGGAGTGTGTATGTGTTAA 0.313 RPAP2 79871 broad.mit.edu 37 1 92789302 92789302 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:92789302C>T uc001dot.2 + 8 934 c.825C>T c.(823-825)GGC>GGT p.G275G RPAP2_uc009wdh.2_RNA NM_024813 NP_079089 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 275 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) AGCAGTTAGGCGATTGCAAAT 0.373 EXTL2 2135 broad.mit.edu 37 1 101343423 101343423 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:101343423C>A uc001dtk.1 - 3 379 c.42G>T c.(40-42)ATG>ATT p.M14I EXTL2_uc001dtl.1_Missense_Mutation_p.M14I|EXTL2_uc010ouk.1_Missense_Mutation_p.M1I|EXTL2_uc001dtm.1_Missense_Mutation_p.M14I NM_001439 NP_001430 Q9UBQ6 EXTL2_HUMAN exostoses-like 2 14 Cytoplasmic (Potential). N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) CTCGAATCCCCATTACTCTCC 0.428 COL11A1 1301 broad.mit.edu 37 1 103427746 103427746 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:103427746G>A uc001dul.2 - 40 3418 c.3100C>T c.(3100-3102)CTT>TTT p.L1034F COL11A1_uc001duk.2_Missense_Mutation_p.L230F|COL11A1_uc001dum.2_Missense_Mutation_p.L1046F|COL11A1_uc001dun.2_Missense_Mutation_p.L995F|COL11A1_uc009weh.2_Missense_Mutation_p.L918F NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1034 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTCCAGGAAGACCTCTTTCC 0.383 AMY1A 276 broad.mit.edu 37 1 104203067 104203067 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:104203067G>A uc001duu.2 + 7 1178 c.964G>A c.(964-966)GCT>ACT p.A322T AMY1A_uc001duv.2_Missense_Mutation_p.A322T NM_001008221 NP_001008222 P04745 AMY1_HUMAN salivary amylase alpha 1A precursor 322 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding|protein binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) AGGACATGGCGCTGGAGGAGC 0.408 VAV3 10451 broad.mit.edu 37 1 108307782 108307782 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:108307782C>T uc001dvk.1 - 9 891 c.837G>A c.(835-837)GGG>GGA p.G279G VAV3_uc010ouw.1_Silent_p.G279G|VAV3_uc001dvl.1_Silent_p.G103G|VAV3_uc010oux.1_Silent_p.G279G NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 279 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TGCAGTACTGCCCGTAAATAA 0.373 CELSR2 1952 broad.mit.edu 37 1 109810580 109810580 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:109810580C>T uc001dxa.3 + 17 6277 c.6216C>T c.(6214-6216)AGC>AGT p.S2072S NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2072 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) ACTTCGGCAGCGACGTCAAGG 0.662 GNAI3 2773 broad.mit.edu 37 1 110121917 110121917 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:110121917G>A uc001dxz.2 + 4 552 c.395G>A c.(394-396)CGA>CAA p.R132Q NM_006496 NP_006487 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), 132 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity ovary(1) 1 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) CGGTTATGGCGAGATGGTGGG 0.428 HSD3B1 3283 broad.mit.edu 37 1 120054205 120054205 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:120054205C>T uc001ehv.1 + 3 370 c.225C>T c.(223-225)GAC>GAT p.D75D HSD3B1_uc001ehw.2_Silent_p.D77D NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 75 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CCTGCCAGGACGTCTCGGTCA 0.502 ITGA10 8515 broad.mit.edu 37 1 145533915 145533915 + Missense_Mutation SNP C C T rs150141083 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:145533915C>T uc001eoa.2 + 13 1637 c.1561C>T c.(1561-1563)CGT>TGT p.R521C NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R390C|ITGA10_uc009wiw.2_Missense_Mutation_p.R378C|ITGA10_uc010oyw.1_Missense_Mutation_p.R466C NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 521 FG-GAP 5.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.R521H(1) lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAAACAGGACGTGTTTATGT 0.552 GJA8 2703 broad.mit.edu 37 1 147380700 147380700 + Silent SNP C C T rs148480116 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:147380700C>T uc001epu.1 + 2 681 c.618C>T c.(616-618)ATC>ATT p.I206I NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 206 Helical; (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) CCATCTTCATCCTGTTCATGT 0.607 NBPF14 25832 broad.mit.edu 37 1 148009502 148009502 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:148009502A>C uc001eqq.2 - 16 1822 c.1805T>G c.(1804-1806)CTG>CGG p.L602R LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Missense_Mutation_p.L175R|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 602 NBPF 7. cytoplasm ovary(1) 1 all_hematologic(923;0.032) CTCATCCAACAGCTCCCCGCT 0.478 TMOD4 29765 broad.mit.edu 37 1 151143428 151143428 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:151143428C>T uc001exc.3 - 8 1028 c.838G>A c.(838-840)GCC>ACC p.A280T TMOD4_uc001exb.2_Missense_Mutation_p.A108T|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Missense_Mutation_p.A211T NM_013353 NP_037485 Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 280 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTGAGTGTGGCATTTTCCCGA 0.517 RORC 6097 broad.mit.edu 37 1 151785790 151785790 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:151785790G>A uc001ezh.2 - 8 1207 c.1099C>T c.(1099-1101)CGG>TGG p.R367W RORC_uc001ezg.2_Missense_Mutation_p.R346W|RORC_uc010pdo.1_Missense_Mutation_p.R421W|RORC_uc010pdp.1_Missense_Mutation_p.R367W NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 367 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTGTAGGCCCGGCACATCCTA 0.567 TCHH 7062 broad.mit.edu 37 1 152080509 152080509 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:152080509C>A uc001ezp.2 - 2 5184 c.5184G>T c.(5182-5184)GAG>GAT p.E1728D TCHH_uc009wne.1_Missense_Mutation_p.E1728D NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1728 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGCTGTTCCTCCTCACGGA 0.562 TCHH 7062 broad.mit.edu 37 1 152083351 152083351 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:152083351C>T uc001ezp.2 - 2 2342 c.2342G>A c.(2341-2343)CGT>CAT p.R781H TCHH_uc009wne.1_Missense_Mutation_p.R781H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 781 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCCTCTGACGGCCCCTCTC 0.687 CRNN 49860 broad.mit.edu 37 1 152382422 152382422 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:152382422G>A uc001ezx.2 - 3 1210 c.1136C>T c.(1135-1137)ACG>ATG p.T379M NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 379 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGGCTGCGTCTGGGTCTG 0.587 S100A14 57402 broad.mit.edu 37 1 153588392 153588392 + Translation_Start_Site SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:153588392G>T uc001fce.2 - 2 41 c.-57C>A c.(-59--55)CTCTG>CTATG S100A16_uc001fcd.1_5'Flank NM_020672 NP_065723 Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm calcium ion binding|chemokine receptor binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GCTGGCCCCAGAGGAGCTGAT 0.562 DCST2 127579 broad.mit.edu 37 1 154999182 154999182 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:154999182A>G uc001fgm.2 - 9 1432 c.1352T>C c.(1351-1353)TTG>TCG p.L451S DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 451 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TAGAGACACCAACACAGGACC 0.498 TRIM46 80128 broad.mit.edu 37 1 155148109 155148109 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:155148109G>A uc001fhs.1 + 2 394 c.311G>A c.(310-312)CGG>CAG p.R104Q RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.R91Q|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.R104Q|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.R81Q|TRIM46_uc009wpg.1_Missense_Mutation_p.R91Q|TRIM46_uc009wpf.2_Missense_Mutation_p.R91Q|TRIM46_uc001fhv.3_Missense_Mutation_p.R91Q|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 104 intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGCCTGGACCGGCTGCTTAAG 0.642 RAB25 57111 broad.mit.edu 37 1 156040014 156040014 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:156040014G>A uc001fnc.2 + 5 804 c.578G>A c.(577-579)GGC>GAC p.G193D NM_020387 NP_065120 P57735 RAB25_HUMAN RAB25 193 positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|pseudopodium membrane GTP binding|identical protein binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) ATCACTCTGGGCAGTGCCCAG 0.597 SEMA4A 64218 broad.mit.edu 37 1 156146488 156146488 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:156146488G>T uc001fnl.2 + 15 2090 c.1986G>T c.(1984-1986)AAG>AAT p.K662N SEMA4A_uc009wrq.2_Missense_Mutation_p.K662N|SEMA4A_uc001fnm.2_Missense_Mutation_p.K662N|SEMA4A_uc001fnn.2_Missense_Mutation_p.K530N|SEMA4A_uc001fno.2_Missense_Mutation_p.K662N NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 662 Extracellular (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) AGCATGTGAAGGTCCCGTTGA 0.602 SMG5 23381 broad.mit.edu 37 1 156230293 156230293 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:156230293G>A uc001foc.3 - 15 2381 c.2232C>T c.(2230-2232)CAC>CAT p.H744H SMG5_uc009wrv.2_Silent_p.H229H NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 744 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TAAAGCGTCTGTGGGCAGCTC 0.532 IQGAP3 128239 broad.mit.edu 37 1 156513774 156513774 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:156513774T>C uc001fpf.2 - 22 2604 c.2529A>G c.(2527-2529)TTA>TTG p.L843L NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 843 IQ 4. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCAGCTCACCTAATATCCTGT 0.532 BCAN 63827 broad.mit.edu 37 1 156618552 156618552 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:156618552G>A uc001fpp.2 + 6 1298 c.962G>A c.(961-963)CGC>CAC p.R321H BCAN_uc001fpo.2_Missense_Mutation_p.R321H NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 321 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCAGCCAGCGCTGTGGTGGG 0.612 OR10Z1 128368 broad.mit.edu 37 1 158576272 158576272 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:158576272T>C uc010pio.1 + 1 44 c.44T>C c.(43-45)CTG>CCG p.L15P NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TTTGTCTTCCTGGGCTTCTCC 0.478 OR10J3 441911 broad.mit.edu 37 1 159284423 159284423 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:159284423C>T uc010piu.1 - 1 27 c.27G>A c.(25-27)GTG>GTA p.V9V NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) GGAACTCAGTCACAAAAGTGG 0.433 SLAMF9 89886 broad.mit.edu 37 1 159923100 159923100 + Nonsense_Mutation SNP G G C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:159923100G>C uc001fus.2 - 2 507 c.390C>G c.(388-390)TAC>TAG p.Y130* SLAMF9_uc009wtd.2_Nonsense_Mutation_p.Y130*|SLAMF9_uc001fut.2_Intron NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 130 Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TAAACTCACGGTAGACACATA 0.498 PIGM 93183 broad.mit.edu 37 1 160001078 160001078 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:160001078G>A uc001fuv.1 - 1 706 c.452C>T c.(451-453)GCC>GTC p.A151V NM_145167 NP_660150 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, 151 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GACCAGGGAGGCGACAATAGA 0.537 ATP1A4 480 broad.mit.edu 37 1 160156137 160156137 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:160156137T>G uc001fve.3 + 21 3520 c.3041T>G c.(3040-3042)CTC>CGC p.L1014R ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.L517R|ATP1A4_uc001fvh.2_Missense_Mutation_p.L150R NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 1014 Cytoplasmic (Potential). ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). 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) AGAAAACTCCTCATCCGTCAG 0.562 ARHGAP30 257106 broad.mit.edu 37 1 161019226 161019226 + Silent SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:161019226T>A uc001fxl.2 - 11 2020 c.1674A>T c.(1672-1674)GGA>GGT p.G558G ARHGAP30_uc001fxk.2_Silent_p.G558G|ARHGAP30_uc001fxm.2_Silent_p.G404G|ARHGAP30_uc009wtx.2_Silent_p.G231G|ARHGAP30_uc001fxn.1_Silent_p.G404G NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 558 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GAGGCCCAACTCCCAGGAGCT 0.647 NR1I3 9970 broad.mit.edu 37 1 161203117 161203117 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:161203117C>T uc001fzx.2 - 4 453 c.250G>A c.(250-252)GCA>ACA p.A84T TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.A84T|NR1I3_uc001fzg.2_Missense_Mutation_p.A55T|NR1I3_uc001fzh.2_Missense_Mutation_p.A55T|NR1I3_uc001fzi.2_Missense_Mutation_p.A55T|NR1I3_uc001fzj.2_Missense_Mutation_p.A55T|NR1I3_uc001fzk.2_Missense_Mutation_p.A55T|NR1I3_uc001fzl.2_Missense_Mutation_p.A55T|NR1I3_uc001fzm.2_Missense_Mutation_p.A9T|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Missense_Mutation_p.A84T|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.A84T|NR1I3_uc001fzy.2_Missense_Mutation_p.A84T|NR1I3_uc001fzz.2_Missense_Mutation_p.A84T|NR1I3_uc001gaa.2_Missense_Mutation_p.A84T|NR1I3_uc001gab.2_Missense_Mutation_p.A84T|NR1I3_uc001gac.2_Missense_Mutation_p.A55T|NR1I3_uc010pkm.1_Missense_Mutation_p.A55T|NR1I3_uc010pkn.1_Missense_Mutation_p.A84T NM_001077480 NP_001070948 Q14994 NR1I3_HUMAN constitutive androstane receptor isoform 2 84 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGGGCTTCTGCCGACAGTATC 0.582 MPZ 4359 broad.mit.edu 37 1 161276654 161276654 + Missense_Mutation SNP G G A rs121913590 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:161276654G>A uc001gaf.3 - 3 359 c.322C>T c.(322-324)CGC>TGC p.R108C MPZ_uc010pko.1_RNA NM_000530 NP_000521 P25189 MYP0_HUMAN myelin protein zero 98 Ig-like V-type.|Extracellular (Potential). R -> P (in CMT1B).|R -> C (in CMT1B; severe and DSS).|R -> H (in CMT1B).|R -> S (in CMT1B). synaptic transmission integral to plasma membrane structural molecule activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) CACTGGATGCGCTCTTTGAAG 0.507 FCRLA 84824 broad.mit.edu 37 1 161681777 161681777 + Nonsense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:161681777G>T uc001gbe.2 + 5 864 c.622G>T c.(622-624)GGA>TGA p.G208* FCRLA_uc001gbd.2_Nonsense_Mutation_p.G202*|FCRLA_uc001gbf.2_Nonsense_Mutation_p.G113*|FCRLA_uc001gbg.2_Nonsense_Mutation_p.G62*|FCRLA_uc009wuo.2_Nonsense_Mutation_p.G68*|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 185 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ACCCCAAGCAGGAAGCCCCAT 0.517 OLFML2B 25903 broad.mit.edu 37 1 161989931 161989931 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:161989931G>A uc001gbu.2 - 2 640 c.216C>T c.(214-216)GGC>GGT p.G72G OLFML2B_uc010pkq.1_Silent_p.G72G NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 72 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GACAGTCCGAGCCCTCAGACA 0.572 SLC9A11 284525 broad.mit.edu 37 1 173551081 173551081 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:173551081G>A uc001giz.2 - 7 1130 c.707C>T c.(706-708)GCA>GTA p.A236V SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 236 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 AATGATTTTTGCACACCAATA 0.299 PAPPA2 60676 broad.mit.edu 37 1 176640157 176640157 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:176640157T>C uc001gkz.2 + 4 3207 c.2043T>C c.(2041-2043)ACT>ACC p.T681T PAPPA2_uc001gky.1_Silent_p.T681T|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 681 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TGAACAGTACTCACTTCCTCA 0.512 QSOX1 5768 broad.mit.edu 37 1 180165497 180165497 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:180165497C>T uc001gnz.2 + 12 1644 c.1569C>T c.(1567-1569)GAC>GAT p.D523D QSOX1_uc001gny.2_Silent_p.D523D|QSOX1_uc001goa.2_Silent_p.D523D|QSOX1_uc001goc.2_Silent_p.D65D|FLJ23867_uc001god.3_5'Flank NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 523 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 CCGTGTGGGACGTGGAAGCCA 0.622 ACBD6 84320 broad.mit.edu 37 1 180471273 180471273 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:180471273G>A uc001gog.2 - 1 750 c.129C>T c.(127-129)GCC>GCT p.A43A NM_032360 NP_115736 Q9BR61 ACBD6_HUMAN acyl-coenzyme A binding domain containing 6 43 ACB. cytoplasm|nucleus fatty-acyl-CoA binding ovary(1) 1 CAAACAGCTCGGCCAGGCAAC 0.612 STX6 10228 broad.mit.edu 37 1 180945780 180945780 + Missense_Mutation SNP G G A rs114031596 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:180945780G>A uc010pnq.1 - 8 931 c.694C>T c.(694-696)CGG>TGG p.R232W STX6_uc009wxo.1_5'Flank|STX6_uc001goo.2_Missense_Mutation_p.R232W|STX6_uc010pnr.1_Missense_Mutation_p.R131W NM_005819 NP_005810 O43752 STX6_HUMAN syntaxin 6 232 Cytoplasmic (Potential). Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity ovary(1) 1 CATTGGCGCCGATCTGGAAGG 0.532 CACNA1E 777 broad.mit.edu 37 1 181453073 181453073 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:181453073G>A uc001gow.2 + 1 358 c.193G>A c.(193-195)GTC>ATC p.V65I NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 65 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CTGTTTCACCGTCAACAGATC 0.537 CACNA1E 777 broad.mit.edu 37 1 181767624 181767624 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:181767624C>A uc001gow.2 + 47 6632 c.6467C>A c.(6466-6468)GCT>GAT p.A2156D CACNA1E_uc009wxs.2_Missense_Mutation_p.A2044D|CACNA1E_uc009wxt.2_Missense_Mutation_p.A1425D NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2199 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 ACCTCCCAAGCTCTGGAGAGC 0.632 ZNF648 127665 broad.mit.edu 37 1 182026561 182026561 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:182026561C>T uc001goz.2 - 2 793 c.585G>A c.(583-585)CCG>CCA p.P195P NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGTTGCTCCCCGGCCTGGGGA 0.612 RNASEL 6041 broad.mit.edu 37 1 182555115 182555115 + Missense_Mutation SNP G G T rs145415894 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:182555115G>T uc001gpj.1 - 1 994 c.827C>A c.(826-828)GCA>GAA p.A276E RNASEL_uc009wxz.1_Missense_Mutation_p.A276E|RNASEL_uc001gpk.2_Missense_Mutation_p.A276E|RNASEL_uc009wya.1_Missense_Mutation_p.A276E NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 276 ANK 8. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 AAGCAGCAGTGCTGTTTTGCC 0.493 Hereditary_Prostate_Cancer EDEM3 80267 broad.mit.edu 37 1 184677410 184677410 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:184677410C>T uc010pok.1 - 17 2175 c.1914G>A c.(1912-1914)CAG>CAA p.Q638Q EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Silent_p.Q638Q NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 638 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 CTTTTTGTTGCTGACTTGACA 0.443 F13B 2165 broad.mit.edu 37 1 197026436 197026436 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:197026436G>A uc001gtt.1 - 6 1009 c.965C>T c.(964-966)ACA>ATA p.T322I NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 322 Sushi 5. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TGGAGGTTCTGTCCATTTTCC 0.368 KLHL12 59349 broad.mit.edu 37 1 202894140 202894140 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:202894140G>A uc001gyo.1 - 2 351 c.151C>T c.(151-153)CTG>TTG p.L51L KLHL12_uc010pqc.1_Silent_p.L89L|KLHL12_uc009xah.1_Silent_p.L51L NM_021633 NP_067646 Q53G59 KLH12_HUMAN kelch-like 12 51 BTB. Wnt receptor signaling pathway protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) CAGGCAGCCAGCACAATCCGA 0.458 ADORA1 134 broad.mit.edu 37 1 203098114 203098114 + Missense_Mutation SNP G G A rs2275349 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:203098114G>A uc001gze.1 + 3 578 c.145G>A c.(145-147)GTG>ATG p.V49M ADORA1_uc001gzf.1_Missense_Mutation_p.V49M|ADORA1_uc010pqg.1_Translation_Start_Site|ADORA1_uc009xak.1_Translation_Start_Site|ADORA1_uc010pqh.1_Missense_Mutation_p.V82M NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 49 Helical; Name=2; (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CTGCTTCATCGTGTCGCTGGC 0.632 FMOD 2331 broad.mit.edu 37 1 203316578 203316578 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:203316578C>T uc001gzr.2 - 2 957 c.821G>A c.(820-822)CGG>CAG p.R274Q FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 274 LRR 8. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) GTGGGACAGCCGCACATACAG 0.572 REN 5972 broad.mit.edu 37 1 204131189 204131189 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:204131189C>T uc001haq.2 - 2 245 c.201G>A c.(199-201)CTG>CTA p.L67L NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 67 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) TGCCAAGTGTCAGCCTCTTCA 0.577 NFASC 23114 broad.mit.edu 37 1 204948583 204948583 + Missense_Mutation SNP G G A rs151110151 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:204948583G>A uc001hbj.2 + 19 2400 c.2072G>A c.(2071-2073)CGG>CAG p.R691Q NFASC_uc010pra.1_Missense_Mutation_p.R687Q|NFASC_uc001hbi.2_Missense_Mutation_p.R687Q|NFASC_uc010prb.1_Missense_Mutation_p.R702Q|NFASC_uc010prc.1_Missense_Mutation_p.R258Q|NFASC_uc001hbk.1_Missense_Mutation_p.R497Q|NFASC_uc001hbl.1_5'Flank NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 691 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCCGTCCTCCGGCTGTCCCCG 0.582 CNTN2 6900 broad.mit.edu 37 1 205034993 205034993 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:205034993C>T uc001hbr.2 + 14 2041 c.1772C>T c.(1771-1773)ACG>ATG p.T591M CNTN2_uc001hbq.1_Missense_Mutation_p.T482M|CNTN2_uc001hbs.2_Missense_Mutation_p.T379M NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 591 Ig-like C2-type 6. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ATGGCCCAGACGGTGGTGGAC 0.627 CR1 1378 broad.mit.edu 37 1 207753935 207753935 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:207753935G>T uc001hfy.2 + 23 3983 c.3843G>T c.(3841-3843)AAG>AAT p.K1281N CR1_uc009xcl.1_Missense_Mutation_p.K831N|CR1_uc001hfx.2_Missense_Mutation_p.K1731N NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1281 Sushi 20.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTGGGGCAAAGGTGTCCTTTG 0.433 CR1 1378 broad.mit.edu 37 1 207785031 207785031 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:207785031C>T uc001hfy.2 + 30 5095 c.4955C>T c.(4954-4956)CCG>CTG p.P1652L CR1_uc001hfx.2_Missense_Mutation_p.P2102L NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1652 Sushi 26.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 GTGTGTCAGCCGCCTCCAGAA 0.478 LAMB3 3914 broad.mit.edu 37 1 209799235 209799235 + Silent SNP G G A rs138710333 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:209799235G>A uc001hhg.2 - 13 2124 c.1734C>T c.(1732-1734)TGC>TGT p.C578C LAMB3_uc009xco.2_Silent_p.C578C|LAMB3_uc001hhh.2_Silent_p.C578C|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 578 Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGCAGGCCACGCACACCGGGT 0.667 RPS6KC1 26750 broad.mit.edu 37 1 213414588 213414588 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:213414588T>G uc010ptr.1 + 11 1928 c.1769T>G c.(1768-1770)CTC>CGC p.L590R RPS6KC1_uc001hkd.2_Missense_Mutation_p.L578R|RPS6KC1_uc010pts.1_Missense_Mutation_p.L378R|RPS6KC1_uc010ptt.1_Missense_Mutation_p.L378R|RPS6KC1_uc010ptu.1_Missense_Mutation_p.L409R|RPS6KC1_uc010ptv.1_Missense_Mutation_p.L125R|RPS6KC1_uc001hke.2_Missense_Mutation_p.L409R NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 590 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TCAGATTCCCTCAGTAGATCA 0.458 EPRS 2058 broad.mit.edu 37 1 220145457 220145457 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:220145457A>G uc001hly.1 - 30 4547 c.4277T>C c.(4276-4278)GTG>GCG p.V1426A NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1426 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TGTATTAGCCACAACCATATG 0.303 BPNT1 10380 broad.mit.edu 37 1 220246279 220246279 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:220246279C>A uc001hma.2 - 4 418 c.246G>T c.(244-246)GTG>GTT p.V82V BPNT1_uc010pug.1_Silent_p.V27V|BPNT1_uc010puh.1_Intron|BPNT1_uc001hmb.3_Silent_p.V82V NM_006085 NP_006076 O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 82 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0558) GCTCTTGATCCACTTCCTCAG 0.403 TP53BP2 7159 broad.mit.edu 37 1 223986208 223986208 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:223986208C>T uc010pvb.1 - 12 1949 c.1657G>A c.(1657-1659)GCA>ACA p.A553T TP53BP2_uc001hod.2_Missense_Mutation_p.A424T|TP53BP2_uc010puz.1_Intron|TP53BP2_uc010pva.1_Missense_Mutation_p.A192T NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 547 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) TGCTGCCCTGCTGGTTTTGGT 0.507 TMEM63A 9725 broad.mit.edu 37 1 226048598 226048598 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:226048598C>T uc001hpm.1 - 14 1435 c.1185G>A c.(1183-1185)TGG>TGA p.W395* NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 395 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) AGGTGACTGTCCACTTGGAGG 0.567 PSEN2 5664 broad.mit.edu 37 1 227079049 227079049 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:227079049C>T uc009xeo.1 + 10 1384 c.957C>T c.(955-957)TAC>TAT p.Y319Y PSEN2_uc009xep.1_Silent_p.Y319Y|PSEN2_uc001hqk.2_RNA NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 319 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) AGCTCCCCTACGACCCGGAGA 0.627 OBSCN 84033 broad.mit.edu 37 1 228494756 228494756 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:228494756G>A uc009xez.1 + 45 12125 c.12081G>A c.(12079-12081)GTG>GTA p.V4027V OBSCN_uc001hsn.2_Silent_p.V4027V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4027 Ig-like 41. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) ACCAGATGGTGCAGGATGGTG 0.647 TRIM67 440730 broad.mit.edu 37 1 231349596 231349596 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:231349596G>A uc009xfn.1 + 9 2201 c.2159G>A c.(2158-2160)GGC>GAC p.G720D NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 720 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GCCACCGTGGGCGTGCTGCTG 0.612 PCNXL2 80003 broad.mit.edu 37 1 233134036 233134036 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:233134036G>A uc001hvl.2 - 32 5987 c.5752C>T c.(5752-5754)CAG>TAG p.Q1918* PCNXL2_uc001hvk.1_Nonsense_Mutation_p.Q570*|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1918 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) ACCCCGTGCTGAGCACCGCCT 0.607 TARBP1 6894 broad.mit.edu 37 1 234601428 234601428 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:234601428C>T uc001hwd.2 - 5 1275 c.1275G>A c.(1273-1275)GCG>GCA p.A425A NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 425 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCTCTGAAAGCGCATCCATTA 0.299 B3GALNT2 148789 broad.mit.edu 37 1 235634232 235634232 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:235634232C>T uc001hxc.2 - 6 923 c.694G>A c.(694-696)GGC>AGC p.G232S B3GALNT2_uc001hxd.1_Missense_Mutation_p.G273S NM_152490 NP_689703 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 232 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity breast(1) 1 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) GACACAAGGCCGTGGAGGTCT 0.393 RYR2 6262 broad.mit.edu 37 1 237729972 237729972 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:237729972C>T uc001hyl.1 + 28 3440 c.3320C>T c.(3319-3321)ACG>ATG p.T1107M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1107 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAATTTGAGACGGTCACTGCT 0.552 FMN2 56776 broad.mit.edu 37 1 240370965 240370965 + Silent SNP G G A rs146070457 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:240370965G>A uc010pyd.1 + 5 3078 c.2853G>A c.(2851-2853)GCG>GCA p.A951A FMN2_uc010pye.1_Silent_p.A955A NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 951 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCCGGAGCGGCAATACCCC 0.697 ZNF669 79862 broad.mit.edu 37 1 247263838 247263838 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:247263838A>G uc001ice.2 - 4 1406 c.1233T>C c.(1231-1233)ATT>ATC p.I411I ZNF669_uc001icf.2_Silent_p.I325I NM_024804 NP_079080 Q96BR6 ZN669_HUMAN zinc finger protein 669 isoform 1 411 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CTCCAGTATGAATTCTTTCGT 0.413 CACNB2 783 broad.mit.edu 37 10 18828201 18828201 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:18828201C>T uc001ipr.2 + 14 1591 c.1531C>T c.(1531-1533)CGT>TGT p.R511C CACNB2_uc009xjz.1_Missense_Mutation_p.R261C|CACNB2_uc001ips.2_Missense_Mutation_p.R487C|CACNB2_uc001ipt.2_Missense_Mutation_p.R473C|CACNB2_uc001ipu.2_Missense_Mutation_p.R483C|CACNB2_uc001ipv.2_Missense_Mutation_p.R459C|CACNB2_uc009xka.1_Missense_Mutation_p.R445C|CACNB2_uc001ipw.2_Missense_Mutation_p.R418C|CACNB2_uc001ipx.2_Missense_Mutation_p.R456C|CACNB2_uc001ipz.2_Missense_Mutation_p.R433C|CACNB2_uc001ipy.2_Missense_Mutation_p.R457C|CACNB2_uc010qco.1_Missense_Mutation_p.R425C|CACNB2_uc001iqa.2_Missense_Mutation_p.R463C|NSUN6_uc001iqb.2_RNA NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 511 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGCTCCTATCCGTTCTGCTTC 0.542 CACNB2 783 broad.mit.edu 37 10 18828645 18828645 + Missense_Mutation SNP C C T rs77141223 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:18828645C>T uc001ipr.2 + 14 2035 c.1975C>T c.(1975-1977)CGC>TGC p.R659C CACNB2_uc009xjz.1_Missense_Mutation_p.R409C|CACNB2_uc001ips.2_Missense_Mutation_p.R635C|CACNB2_uc001ipt.2_Missense_Mutation_p.R621C|CACNB2_uc001ipu.2_Missense_Mutation_p.R631C|CACNB2_uc001ipv.2_Missense_Mutation_p.R607C|CACNB2_uc009xka.1_Missense_Mutation_p.R593C|CACNB2_uc001ipw.2_Missense_Mutation_p.R566C|CACNB2_uc001ipx.2_Missense_Mutation_p.R604C|CACNB2_uc001ipz.2_Missense_Mutation_p.R581C|CACNB2_uc001ipy.2_Missense_Mutation_p.R605C|CACNB2_uc010qco.1_Missense_Mutation_p.R573C|CACNB2_uc001iqa.2_Missense_Mutation_p.R611C|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 659 R -> P (in Ref. 2; AAB53332, 5; AAG01473/ AAL16948/AAL16951/AAL16950 and 6; AAL73495). axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGTTTACATCCGCCAATGAGT 0.408 GPR158 57512 broad.mit.edu 37 10 25887199 25887199 + Missense_Mutation SNP G G A rs141827771 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:25887199G>A uc001isj.2 + 11 2704 c.2644G>A c.(2644-2646)GCT>ACT p.A882T GPR158_uc001isk.2_Missense_Mutation_p.A257T NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 882 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GTCAGCAAGCGCTCACAACCT 0.502 PTCHD3 374308 broad.mit.edu 37 10 27692254 27692254 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:27692254G>A uc001itu.2 - 3 1362 c.1244C>T c.(1243-1245)GCG>GTG p.A415V NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 415 SSD. spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TCCAAAGGCCGCAACACACAT 0.438 PTCHD3 374308 broad.mit.edu 37 10 27702568 27702568 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:27702568G>A uc001itu.2 - 1 730 c.612C>T c.(610-612)ACC>ACT p.T204T NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 204 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 AATTGGCTTCGGTGCTCCTCC 0.632 PARD3 56288 broad.mit.edu 37 10 34408562 34408562 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:34408562C>T uc010qej.1 - 24 3656 c.3656G>A c.(3655-3657)CGC>CAC p.R1219H PARD3_uc010qek.1_Missense_Mutation_p.R1216H|PARD3_uc010qel.1_Missense_Mutation_p.R1182H|PARD3_uc010qem.1_Missense_Mutation_p.R1203H|PARD3_uc010qen.1_Missense_Mutation_p.R1173H|PARD3_uc010qeo.1_Missense_Mutation_p.R1136H|PARD3_uc010qep.1_Missense_Mutation_p.R1129H|PARD3_uc010qeq.1_Missense_Mutation_p.R1107H NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1219 Potential. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) GCTGTACTGGCGCTGGGCCTG 0.692 FZD8 8325 broad.mit.edu 37 10 35929176 35929176 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:35929176C>T uc001iyz.1 - 1 1187 c.1182G>A c.(1180-1182)GCG>GCA p.A394A NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 394 Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 CGGTGCACAGCGCGGGGCCGG 0.502 RET 5979 broad.mit.edu 37 10 43598065 43598065 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:43598065A>G uc001jal.2 + 3 803 c.613A>G c.(613-615)AGG>GGG p.R205G RET_uc001jak.1_Missense_Mutation_p.R205G|RET_uc010qez.1_5'Flank NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 205 Cadherin.|Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) CGTGGCCTACAGGCTCCTGGA 0.627 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma RET 5979 broad.mit.edu 37 10 43620416 43620416 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:43620416A>G uc001jal.2 + 18 3215 c.3025A>G c.(3025-3027)ATG>GTG p.M1009V RET_uc001jak.1_Missense_Mutation_p.M1009V|RET_uc010qez.1_Missense_Mutation_p.M755V NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 1009 Protein kinase.|Cytoplasmic (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) GGAGAAGATGATGGTTAAGAG 0.562 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma ZNF32 7580 broad.mit.edu 37 10 44139887 44139887 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:44139887G>A uc001jbb.2 - 3 622 c.433C>T c.(433-435)CGA>TGA p.R145* uc001jba.2_Intron|ZNF32_uc001jbc.2_Nonsense_Mutation_p.R145* NM_001005368 NP_001005368 P17041 ZNF32_HUMAN zinc finger protein 32 145 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) AGACTACCTCGTTGACTGAAG 0.483 RASSF4 83937 broad.mit.edu 37 10 45478096 45478096 + Missense_Mutation SNP G G A rs145855403 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:45478096G>A uc001jbo.2 + 4 400 c.266G>A c.(265-267)CGG>CAG p.R89Q RASSF4_uc001jbp.2_Missense_Mutation_p.R120Q|RASSF4_uc009xmn.2_Missense_Mutation_p.R19Q|RASSF4_uc001jbq.2_Missense_Mutation_p.G17S|RASSF4_uc001jbt.2_Missense_Mutation_p.R19Q NM_032023 NP_114412 Q9H2L5 RASF4_HUMAN Ras association domain family 4 89 cell cycle|signal transduction protein binding large_intestine(1) 1 ATGCCCAGACGGCCTAGCTGC 0.657 OR13A1 79290 broad.mit.edu 37 10 45799648 45799648 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:45799648C>T uc001jcc.1 - 4 532 c.223G>A c.(223-225)GCT>ACT p.A75T OR13A1_uc001jcd.1_Missense_Mutation_p.A71T NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TACATAGGAGCGTGGAGCCCA 0.522 ANK3 288 broad.mit.edu 37 10 61829489 61829489 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:61829489T>G uc001jky.2 - 37 11342 c.11150A>C c.(11149-11151)AAG>ACG p.K3717T ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3717 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 CGTGCGCAACTTGGGGTCAAC 0.507 ANK3 288 broad.mit.edu 37 10 61836200 61836200 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:61836200C>T uc001jky.2 - 37 4631 c.4439G>A c.(4438-4440)CGG>CAG p.R1480Q ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1480 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TCCTGTACTCCGTTCAACTGT 0.383 ZNF365 22891 broad.mit.edu 37 10 64136336 64136336 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:64136336C>A uc001jmc.2 + 2 699 c.384C>A c.(382-384)ACC>ACA p.T128T ZNF365_uc001jly.3_Silent_p.T143T|ZNF365_uc001jmb.3_Silent_p.T128T|ZNF365_uc001jlz.3_Silent_p.T128T|ZNF365_uc001jma.3_Intron NM_199451 NP_955523 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform C Error:Variant_position_missing_in_Q70YC4_after_alignment ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) ATGTGCAGACCTACACTGCCA 0.532 JMJD1C 221037 broad.mit.edu 37 10 64952810 64952810 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:64952810G>A uc001jmn.2 - 16 6264 c.5964C>T c.(5962-5964)AGC>AGT p.S1988S JMJD1C_uc001jml.2_Silent_p.S1751S|JMJD1C_uc001jmm.2_Silent_p.S1700S|JMJD1C_uc010qiq.1_Silent_p.S1806S|JMJD1C_uc009xpi.2_Silent_p.S1806S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Silent_p.S886S NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1988 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TCTCTGGGCTGCTGCCACCAT 0.443 JMJD1C 221037 broad.mit.edu 37 10 64954088 64954088 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:64954088C>T uc001jmn.2 - 14 5992 c.5692G>A c.(5692-5694)GAT>AAT p.D1898N JMJD1C_uc001jml.2_Missense_Mutation_p.D1679N|JMJD1C_uc001jmm.2_Missense_Mutation_p.D1610N|JMJD1C_uc010qiq.1_Missense_Mutation_p.D1716N|JMJD1C_uc009xpi.2_Missense_Mutation_p.D1716N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.D796N NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1898 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TGTTTGTGATCATGAGGCTGT 0.333 HK1 3098 broad.mit.edu 37 10 71158533 71158533 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:71158533G>A uc001jpl.3 + 17 2659 c.2558G>A c.(2557-2559)CGT>CAT p.R853H HK1_uc001jpg.3_Missense_Mutation_p.R841H|HK1_uc001jph.3_Missense_Mutation_p.R857H|HK1_uc001jpi.3_Missense_Mutation_p.R857H|HK1_uc001jpj.3_Missense_Mutation_p.R888H|HK1_uc001jpk.3_Missense_Mutation_p.R852H NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 853 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 GGACTGGACCGTCTGAATGTG 0.592 C10orf27 219793 broad.mit.edu 37 10 72539371 72539371 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:72539371A>G uc001jrj.1 - 5 795 c.405T>C c.(403-405)AAT>AAC p.N135N C10orf27_uc010qjm.1_Silent_p.N135N|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Silent_p.N135N|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Silent_p.N124N|C10orf27_uc009xqj.1_Missense_Mutation_p.I130T|C10orf27_uc010qjp.1_Silent_p.N124N NM_152710 NP_689923 Q96M53 SPATL_HUMAN stromal protein associated with thymii and lymph 135 cell differentiation|multicellular organismal development|spermatogenesis cytosol skin(1) 1 GGGGGTTCCGATTAGACTGTG 0.587 UNC5B 219699 broad.mit.edu 37 10 73050685 73050685 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:73050685A>G uc001jro.2 + 9 1558 c.1113A>G c.(1111-1113)TCA>TCG p.S371S UNC5B_uc001jrp.2_Silent_p.S360S NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 371 Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 TGGAGGCCTCAGGGGATGCGG 0.637 USP54 159195 broad.mit.edu 37 10 75265090 75265090 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:75265090T>G uc001juo.2 - 19 4163 c.4146A>C c.(4144-4146)GAA>GAC p.E1382D USP54_uc010qkk.1_Missense_Mutation_p.E564D|USP54_uc001juk.2_Missense_Mutation_p.E470D|USP54_uc001jul.2_Missense_Mutation_p.E470D|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1382 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) CTGTTCTGGCTTCATGGAGAC 0.547 NDST2 8509 broad.mit.edu 37 10 75567582 75567582 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:75567582G>A uc001jvk.2 - 3 1369 c.565C>T c.(565-567)CTT>TTT p.L189F NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.L66F|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.L66F NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 189 Lumenal (Potential).|Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) TGTAAAAAAAGGGGAAAGCCC 0.577 ZMIZ1 57178 broad.mit.edu 37 10 81058854 81058854 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:81058854G>A uc001kaf.2 + 16 2286 c.1714G>A c.(1714-1716)GTG>ATG p.V572M ZMIZ1_uc001kag.2_Missense_Mutation_p.V448M NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 572 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GCGGGATGGCGTGGTGCTGGA 0.647 SFTPA2 729238 broad.mit.edu 37 10 81319123 81319123 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:81319123G>A uc001kal.3 - 3 214 c.117C>T c.(115-117)CAC>CAT p.H39H SFTPA2_uc001kan.3_Silent_p.H39H|SFTPA2_uc001kam.2_RNA NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 39 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CTGGCAGGCCGTGGGATCCAG 0.632 Pulmonary_Fibrosis_Idiopathic WAPAL 23063 broad.mit.edu 37 10 88260114 88260114 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:88260114A>G uc001kdo.2 - 3 1328 c.886T>C c.(886-888)TAC>CAC p.Y296H WAPAL_uc001kdn.2_Missense_Mutation_p.Y339H|WAPAL_uc009xsw.2_Missense_Mutation_p.Y296H NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 296 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 GCCCTACAGTACGTCCTACAG 0.418 PAPSS2 9060 broad.mit.edu 37 10 89472990 89472990 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:89472990C>T uc001kex.2 + 3 567 c.304C>T c.(304-306)CGG>TGG p.R102W PAPSS2_uc001kew.2_Missense_Mutation_p.R102W|PAPSS2_uc009xtg.1_RNA NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 102 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) AAATATCCGCCGGATTGCTGA 0.453 CYP26C1 340665 broad.mit.edu 37 10 94828126 94828126 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:94828126C>T uc010qns.1 + 6 1241 c.1241C>T c.(1240-1242)ACG>ATG p.T414M CYP26C1_uc009xud.2_RNA NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 414 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) ATCCGGGACACGCACGAGACG 0.667 BLNK 29760 broad.mit.edu 37 10 97969609 97969609 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:97969609G>A uc001kls.3 - 9 909 c.731C>T c.(730-732)CCG>CTG p.P244L BLNK_uc001kme.3_Missense_Mutation_p.P139L|BLNK_uc001klt.3_Missense_Mutation_p.P135L|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.P162L|BLNK_uc001klv.3_Missense_Mutation_p.P139L|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Missense_Mutation_p.P221L|BLNK_uc001kly.3_Missense_Mutation_p.P244L|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.P221L|BLNK_uc001kmb.3_Missense_Mutation_p.P40L|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.P162L|BLNK_uc009xvd.2_RNA NM_013314 NP_037446 Q8WV28 BLNK_HUMAN B-cell linker isoform 1 244 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(2) 2 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CCGTGGCAACGGGGATGGTGC 0.562 DHDPSL 112817 broad.mit.edu 37 10 99371285 99371285 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:99371285A>G uc001kny.2 + 7 1212 c.853A>G c.(853-855)ATC>GTC p.I285V DHDPSL_uc001knz.2_Missense_Mutation_p.I122V|PI4K2A_uc010qoy.1_Intron NM_138413 NP_612422 Q86XE5 HOGA1_HUMAN DHDPS-like protein isoform 1 285 glyoxylate catabolic process mitochondrion 4-hydroxy-2-oxoglutarate aldolase activity 0 GCGCTTTGGGATCCCAGGGCT 0.572 CNNM1 26507 broad.mit.edu 37 10 101147615 101147615 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:101147615C>T uc001kpp.3 + 8 2668 c.2379C>T c.(2377-2379)TGC>TGT p.C793C CNNM1_uc010qpi.1_Silent_p.C814C|CNNM1_uc009xwf.2_Silent_p.C793C|CNNM1_uc009xwg.2_Silent_p.C193C NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 793 ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) TCACTGCCTGCCACATGGACA 0.617 GOT1 2805 broad.mit.edu 37 10 101157324 101157324 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:101157324C>T uc001kpr.2 - 9 1430 c.1222G>A c.(1222-1224)GCA>ACA p.A408T GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_Missense_Mutation_p.A121T NM_002079 NP_002070 P17174 AATC_HUMAN aspartate aminotransferase 1 408 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding 0 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TTGGTGACTGCTTCATGGATG 0.448 HPS6 79803 broad.mit.edu 37 10 103826348 103826348 + Missense_Mutation SNP G G T rs140222296 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:103826348G>T uc001kuj.2 + 1 1202 c.1117G>T c.(1117-1119)GGG>TGG p.G373W NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 373 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGAGACCCGAGGGAATCTTCG 0.572 Hermansky-Pudlak_syndrome PPRC1 23082 broad.mit.edu 37 10 103908180 103908180 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:103908180G>A uc001kum.2 + 10 4491 c.4452G>A c.(4450-4452)TCG>TCA p.S1484S PPRC1_uc001kun.2_Silent_p.S1364S|PPRC1_uc010qqj.1_Silent_p.S1220S|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1484 Arg-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) cctcttcttcgtcatcatctt 0.433 NOLC1 9221 broad.mit.edu 37 10 103919311 103919311 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:103919311T>C uc001kuo.2 + 7 1080 c.845T>C c.(844-846)ATG>ACG p.M282T NOLC1_uc001kup.2_Missense_Mutation_p.M292T|NOLC1_uc001kuq.2_Missense_Mutation_p.M283T|NOLC1_uc009xxb.1_Missense_Mutation_p.M1T|NOLC1_uc001kur.2_Missense_Mutation_p.M1T NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 282 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) AAAAAACCCATGAAAAATAAA 0.318 TCF7L2 6934 broad.mit.edu 37 10 114925566 114925566 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:114925566C>T uc001lae.3 + 14 2151 c.1644C>T c.(1642-1644)TCC>TCT p.S548S TCF7L2_uc001lac.3_Silent_p.S542S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Silent_p.S525S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Silent_p.S525S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Silent_p.S480S|TCF7L2_uc010qrs.1_Silent_p.S436S|TCF7L2_uc010qrt.1_Silent_p.S436S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 565 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) ACAAGGCCTCCGCCCTCTGTC 0.672 NRAP 4892 broad.mit.edu 37 10 115356939 115356939 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:115356939T>C uc001laj.2 - 37 4501 c.4337A>G c.(4336-4338)AAG>AGG p.K1446R NRAP_uc009xyb.2_Missense_Mutation_p.K235R|NRAP_uc001lak.2_Missense_Mutation_p.K1411R|NRAP_uc001lal.3_Missense_Mutation_p.K1446R NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1446 Nebulin 38. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TTTACGGTACTTGGTCTATAA 0.448 FAM160B1 57700 broad.mit.edu 37 10 116603678 116603678 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:116603678T>C uc001lcb.2 + 7 1330 c.995T>C c.(994-996)GTG>GCG p.V332A FAM160B1_uc001lcc.2_Missense_Mutation_p.V332A NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 332 lung(1) 1 ATTGAAACCGTGGAAGCAATT 0.423 FOXI2 399823 broad.mit.edu 37 10 129536818 129536818 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:129536818C>T uc009yas.2 + 2 546 c.546C>T c.(544-546)TGC>TGT p.C182C uc009yar.1_5'Flank NM_207426 NP_997309 Q6ZQN5 FOXI2_HUMAN forkhead box I2 182 Fork-head. epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) ACCCCAACTGCGAGAAGATGT 0.602 GPR123 84435 broad.mit.edu 37 10 134942261 134942261 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:134942261G>A uc001llx.3 + 7 1365 c.929G>A c.(928-930)CGT>CAT p.R310H GPR123_uc001llw.2_Missense_Mutation_p.R1029H NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 310 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TGCGCCAAGCGTGAGGACGTG 0.692 MUC6 4588 broad.mit.edu 37 11 1031986 1031986 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:1031986G>A uc001lsw.2 - 3 234 c.183C>T c.(181-183)TAC>TAT p.Y61Y NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 61 VWFD 1. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGAGAAGTCGTACACGTGGT 0.632 MUC5B 727897 broad.mit.edu 37 11 1265996 1265996 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:1265996C>T uc009ycr.1 + 48 9926 c.9800C>T c.(9799-9801)ACG>ATG p.T3267M MUC5B_uc001ltb.2_Missense_Mutation_p.T2632M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2629 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACGGCACGCACGCTTCCAGTG 0.642 MUC5B 727897 broad.mit.edu 37 11 1275928 1275928 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:1275928T>C uc009ycr.1 + 57 16619 c.16493T>C c.(16492-16494)CTG>CCG p.L5498P MUC5B_uc001ltb.2_Missense_Mutation_p.L5164P NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5161 VWFD 4. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCCCAGATCCTGTTTGACCAA 0.617 MOB2 81532 broad.mit.edu 37 11 1491656 1491656 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:1491656C>T uc010qwz.1 - 5 743 c.553G>A c.(553-555)GTG>ATG p.V185M MOB2_uc001lto.1_Missense_Mutation_p.V69M|MOB2_uc001ltp.1_Translation_Start_Site|MOB2_uc001ltq.1_Missense_Mutation_p.V148M|MOB2_uc010qwy.1_Missense_Mutation_p.V69M NM_053005 NP_443731 Q70IA6 MOB2_HUMAN HCCA2 protein 154 nucleus|perinuclear region of cytoplasm metal ion binding 0 TGTGCCAGCACGTGGAACAGG 0.582 OR51E1 143503 broad.mit.edu 37 11 4674677 4674677 + Silent SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:4674677A>T uc001lzi.3 + 2 1065 c.921A>T c.(919-921)CGA>CGT p.R307R NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) GCATCCTTCGACTTTTCCATG 0.453 OR51B5 282763 broad.mit.edu 37 11 5364052 5364052 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:5364052C>G uc001map.1 - 1 703 c.703G>C c.(703-705)GCT>CCT p.A235P HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTAATGAGAGCCTTGGCCCTC 0.433 OR52H1 390067 broad.mit.edu 37 11 5565865 5565865 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:5565865G>T uc010qzh.1 - 1 889 c.889C>A c.(889-891)CCC>ACC p.P297T HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 297 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAAACCATGGGGTTGAGTGCA 0.428 TRIM5 85363 broad.mit.edu 37 11 5701403 5701403 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:5701403G>A uc001mbm.1 - 2 262 c.5C>T c.(4-6)GCT>GTT p.A2V TRIM5_uc001mbq.1_Missense_Mutation_p.A2V|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.A2V|TRIM5_uc001mbo.2_Missense_Mutation_p.A2V|TRIM5_uc001mbp.2_Missense_Mutation_p.A2V NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 2 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) GATTCCAGAAGCCATAGTAGC 0.537 RRP8 23378 broad.mit.edu 37 11 6622259 6622259 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:6622259A>G uc001med.2 - 4 1023 c.944T>C c.(943-945)TTC>TCC p.F315S ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 315 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 CCCACAGCCGAAGTCAGCCAC 0.552 RBMXL2 27288 broad.mit.edu 37 11 7110454 7110454 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:7110454G>A uc001mfc.2 + 1 290 c.103G>A c.(103-105)GTC>ATC p.V35I NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 35 RRM. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGGCCGCATCGTCGAGGTGCT 0.602 RBMXL2 27288 broad.mit.edu 37 11 7111029 7111029 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:7111029C>T uc001mfc.2 + 1 865 c.678C>T c.(676-678)CGC>CGT p.R226R NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 226 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GAGACTACCGCGAACCCCGGG 0.706 SPON1 10418 broad.mit.edu 37 11 14284395 14284395 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:14284395C>T uc001mle.2 + 16 2672 c.2134C>T c.(2134-2136)CGA>TGA p.R712* NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 712 TSP type-1 5. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) GACTGTGCAGCGAAAAAAGTG 0.552 PDE3B 5140 broad.mit.edu 37 11 14808053 14808053 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:14808053T>C uc001mln.2 + 3 1453 c.1100T>C c.(1099-1101)CTG>CCG p.L367P PDE3B_uc010rcr.1_Missense_Mutation_p.L367P NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 367 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TCAGATCTTCTGACTGATCCA 0.408 MYOD1 4654 broad.mit.edu 37 11 17741405 17741405 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:17741405A>G uc001mni.2 + 1 296 c.76A>G c.(76-78)ACG>GCG p.T26A NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 26 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 CTTTGCCACAACGGACGACTT 0.657 ANO3 63982 broad.mit.edu 37 11 26563573 26563573 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:26563573G>A uc001mqt.3 + 11 1257 c.1112G>A c.(1111-1113)CGC>CAC p.R371H ANO3_uc010rdr.1_Missense_Mutation_p.R355H|ANO3_uc010rds.1_Missense_Mutation_p.R210H|ANO3_uc010rdt.1_Missense_Mutation_p.R225H NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 371 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CGCTGGGCACGCTGGGGAATG 0.408 ELF5 2001 broad.mit.edu 37 11 34515034 34515034 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:34515034C>T uc001mvo.1 - 3 607 c.377G>A c.(376-378)CGC>CAC p.R126H ELF5_uc001mvp.1_Missense_Mutation_p.R116H|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.R116H NM_198381 NP_938195 Q9UKW6 ELF5_HUMAN E74-like factor 5 ESE-2a 126 PNT. cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) ACCTTGTGTGCGGATGTTCTG 0.552 OREG0020879 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ACCSL 390110 broad.mit.edu 37 11 44069845 44069845 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:44069845G>A uc001mxw.1 + 1 315 c.259G>A c.(259-261)GCG>ACG p.A87T ACCSL_uc009ykr.2_5'UTR NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 87 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 GTCTGGGGCCGCGAGTGGCCT 0.577 ALX4 60529 broad.mit.edu 37 11 44331611 44331611 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:44331611A>G uc001myb.2 - 1 106 c.2T>C c.(1-3)ATG>ACG p.M1T NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 1 hair follicle development 0 CTCAGCATTCATGCCTGGCTT 0.697 SLC35C1 55343 broad.mit.edu 37 11 45832397 45832397 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:45832397C>T uc001nbp.2 + 2 1318 c.606C>T c.(604-606)GGC>GGT p.G202G SLC35C1_uc001nbo.2_Silent_p.G189G|SLC35C1_uc010rgm.1_Silent_p.G189G NM_018389 NP_060859 Q96A29 FUCT1_HUMAN GDP-fucose transporter 1 isoform a 202 Helical; (Potential). Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity 0 GBM - Glioblastoma multiforme(35;0.227) CCGTCTTCGGCGTGCTGGCTA 0.572 MTCH2 23788 broad.mit.edu 37 11 47660521 47660521 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:47660521T>C uc010rho.1 - 2 359 c.170A>G c.(169-171)TAT>TGT p.Y57C MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_5'UTR NM_014342 NP_055157 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 57 Solcar 1. transport integral to membrane|mitochondrial inner membrane 0 GCACTTACCATAACTAAAGAG 0.388 OR4C15 81309 broad.mit.edu 37 11 55322161 55322161 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:55322161T>A uc010rig.1 + 1 379 c.379T>A c.(379-381)TCA>ACA p.S127T NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGCGTGCTTCTCATCTGTCAT 0.458 HNSCC(20;0.049) OR5D16 390144 broad.mit.edu 37 11 55606335 55606335 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:55606335C>A uc010rio.1 + 1 108 c.108C>A c.(106-108)GTC>GTA p.V36V NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TTCTGGCAGTCTACGGCTTCA 0.438 OR5T2 219464 broad.mit.edu 37 11 56000059 56000059 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:56000059A>G uc010rjc.1 - 1 603 c.603T>C c.(601-603)GCT>GCC p.A201A NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 201 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GGCTAAATGTAGCCACTGTAT 0.433 PRG2 5553 broad.mit.edu 37 11 57156097 57156097 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:57156097C>T uc001njz.2 - 3 478 c.451G>A c.(451-453)GCG>ACG p.A151T PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.A151T|PRG2_uc001nkb.2_Missense_Mutation_p.A151T|PRG2_uc001nkd.2_Missense_Mutation_p.A140T|PRG2_uc001nkc.2_Missense_Mutation_p.A151T|PRG2_uc001nke.2_Missense_Mutation_p.A431T NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 151 C-type lectin. defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Sargramostim(DB00020) TGGTTGAGCGCGCTGACAGAA 0.507 CTNND1 1500 broad.mit.edu 37 11 57569578 57569578 + Nonsense_Mutation SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:57569578A>T uc001nmc.3 + 7 1901 c.1330A>T c.(1330-1332)AAG>TAG p.K444* CTNND1_uc001nlh.1_Nonsense_Mutation_p.K444*|CTNND1_uc001nlu.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nlt.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nls.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nlw.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nmf.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nmd.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlk.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nme.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nll.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nmg.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlj.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlr.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlp.3_Nonsense_Mutation_p.K390*|CTNND1_uc001nlx.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nlz.3_Nonsense_Mutation_p.K121*|CTNND1_uc009ymn.2_Nonsense_Mutation_p.K121*|CTNND1_uc001nlm.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nly.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nmb.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nma.3_Nonsense_Mutation_p.K121*|CTNND1_uc001nmi.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nmh.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nlq.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nln.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nli.3_Nonsense_Mutation_p.K444*|CTNND1_uc001nlo.3_Nonsense_Mutation_p.K343*|CTNND1_uc001nlv.3_Nonsense_Mutation_p.K343* NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 444 ARM 3. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) CCAGGATAACAAGATTGCCAT 0.468 FAM111A 63901 broad.mit.edu 37 11 58920618 58920618 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:58920618C>T uc010rkp.1 + 5 1704 c.1477C>T c.(1477-1479)CGA>TGA p.R493* FAM111A_uc010rkq.1_Nonsense_Mutation_p.R493*|FAM111A_uc010rkr.1_Nonsense_Mutation_p.R493*|FAM111A_uc001nno.2_Nonsense_Mutation_p.R493*|FAM111A_uc001nnp.2_Nonsense_Mutation_p.R493*|FAM111A_uc001nnq.2_Nonsense_Mutation_p.R493* NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 493 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) TCAGGGTCAGCGAGCAAAGAA 0.398 SLC22A6 9356 broad.mit.edu 37 11 62744860 62744860 + Splice_Site SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:62744860C>A uc001nwk.2 - 9 1669 c.1362_splice c.e9-1 p.R454_splice SLC22A6_uc001nwl.2_Intron|SLC22A6_uc001nwj.2_Splice_Site_p.R454_splice|SLC22A6_uc001nwm.2_Intron NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 GCCTGTCTGCCTGCAGGGCCC 0.627 SLC22A10 387775 broad.mit.edu 37 11 63069976 63069976 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:63069976G>A uc009yor.2 + 7 1454 c.1246G>A c.(1246-1248)GTG>ATG p.V416M SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Intron|SLC22A10_uc010rmp.1_Intron NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 416 Helical; (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 CATGTTCCTGGTGGGCCTTTC 0.443 GPR137 56834 broad.mit.edu 37 11 64055863 64055863 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:64055863A>G uc001nzg.1 + 6 1143 c.835A>G c.(835-837)ATC>GTC p.I279V GPR137_uc010rni.1_Missense_Mutation_p.I337V|GPR137_uc001nzf.2_Missense_Mutation_p.I229V|GPR137_uc001nzi.2_Missense_Mutation_p.I279V|GPR137_uc010rnj.1_Missense_Mutation_p.I279V|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank NM_020155 NP_064540 Q96N19 G137A_HUMAN G protein-coupled receptor 137 279 Helical; (Potential). integral to membrane central_nervous_system(1) 1 ATTTGGCCTCATCCTCTTCGT 0.627 CLCF1 23529 broad.mit.edu 37 11 67133087 67133087 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:67133087G>A uc001okq.2 - 3 394 c.198C>T c.(196-198)GGC>GGT p.G66G LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Silent_p.G56G NM_013246 NP_037378 Q9UBD9 CLCF1_HUMAN cardiotrophin-like cytokine factor 1 precursor 66 B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity 0 BRCA - Breast invasive adenocarcinoma(15;2.39e-06) TGAAAGGGGGGCCCAGGTAGT 0.592 MTL5 9633 broad.mit.edu 37 11 68480770 68480770 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:68480770C>A uc001ooc.2 - 8 1266 c.1126G>T c.(1126-1128)GGC>TGC p.G376C NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 376 CXC 2. cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TTCAGGCAGCCTGACCTCCTG 0.463 CTTN 2017 broad.mit.edu 37 11 70277339 70277339 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:70277339G>A uc001opv.3 + 15 1425 c.1219G>A c.(1219-1221)GCA>ACA p.A407T CTTN_uc001opu.2_Missense_Mutation_p.A370T|CTTN_uc001opw.3_Missense_Mutation_p.A370T|CTTN_uc010rqm.1_Missense_Mutation_p.A91T|CTTN_uc001opx.2_Missense_Mutation_p.A91T NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 407 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TGTGTCGCCCGCACCTCAGCC 0.562 DHCR7 1717 broad.mit.edu 37 11 71146556 71146556 + Missense_Mutation SNP G G C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:71146556G>C uc001oqk.2 - 9 1543 c.1293C>G c.(1291-1293)TTC>TTG p.F431L DHCR7_uc001oql.2_Missense_Mutation_p.F431L NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 431 Helical; (Potential). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) AGATGATGTAGAAGTAGGGCA 0.682 Smith-Lemli-Opitz_syndrome KRTAP5-7 440050 broad.mit.edu 37 11 71238367 71238367 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:71238367C>T uc001oqq.1 + 1 55 c.21C>T c.(19-21)TCC>TCT p.S7S NM_001012503 NP_001012521 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 7 keratin filament 0 GTGGCTGTTCCGAAGGCTGTG 0.677 C11orf51 25906 broad.mit.edu 37 11 71821194 71821194 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:71821194C>T uc001orw.2 - 5 480 c.258G>A c.(256-258)ATG>ATA p.M86I LRTOMT_uc010rqv.1_3'UTR|LRTOMT_uc010rqw.1_3'UTR|LRTOMT_uc001ors.3_3'UTR|C11orf51_uc009ytc.1_Missense_Mutation_p.M77I|C11orf51_uc001orv.2_Missense_Mutation_p.M86I NM_014042 NP_054761 P60006 CK051_HUMAN hypothetical protein LOC25906 86 Asp-rich. intracellular 0 CCATGTCCTGCATatcctcat 0.363 INPPL1 3636 broad.mit.edu 37 11 71939414 71939414 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:71939414G>A uc001osf.2 + 3 416 c.269G>A c.(268-270)CGC>CAC p.R90H INPPL1_uc001osg.2_5'UTR NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 90 SH2. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 GTGCCTGTGCGCCGCTTCCAG 0.662 P2RY6 5031 broad.mit.edu 37 11 73008445 73008445 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:73008445C>T uc001otm.2 + 4 1287 c.882C>T c.(880-882)AGC>AGT p.S294S P2RY6_uc001otn.2_Silent_p.S294S|P2RY6_uc001oto.2_Silent_p.S294S|P2RY6_uc001otp.2_Silent_p.S294S|P2RY6_uc001otq.2_Silent_p.S294S|P2RY6_uc001otr.2_Silent_p.S294S|P2RY6_uc001ots.2_Silent_p.S294S NM_176796 NP_789766 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y6 294 Helical; Name=7; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 GTGCCAACAGCGTGCTGGACC 0.617 OMP 4975 broad.mit.edu 37 11 76814096 76814096 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:76814096G>A uc010rsk.1 + 1 211 c.211G>A c.(211-213)GTG>ATG p.V71M CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron NM_006189 NP_006180 P47874 OMP_HUMAN olfactory marker protein 71 sensory perception of smell|synaptic transmission 0 CTGGAATGTCGTGCTGGACAA 0.627 RSF1 51773 broad.mit.edu 37 11 77386206 77386206 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:77386206C>T uc001oyn.2 - 14 3557 c.3437G>A c.(3436-3438)CGT>CAT p.R1146H RSF1_uc001oym.2_Missense_Mutation_p.R894H NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1146 Arg-rich. CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CCTCAGTCTACGGCTACAAAA 0.463 RSF1 51773 broad.mit.edu 37 11 77389135 77389135 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:77389135T>C uc001oyn.2 - 12 3249 c.3129A>G c.(3127-3129)GGA>GGG p.G1043G RSF1_uc001oym.2_Silent_p.G791G NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1043 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) ACATACCTCCTCCATCGGCTT 0.378 PCF11 51585 broad.mit.edu 37 11 82877337 82877337 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:82877337A>C uc001ozx.3 + 5 1743 c.1398A>C c.(1396-1398)AAA>AAC p.K466N PCF11_uc010rsu.1_Missense_Mutation_p.K466N NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 466 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 AGTCAGAAAAACAGGGGACAA 0.403 DLG2 1740 broad.mit.edu 37 11 83874553 83874553 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:83874553A>G uc001paj.2 - 4 563 c.260T>C c.(259-261)GTC>GCC p.V87A DLG2_uc001pai.2_Missense_Mutation_p.V36A|DLG2_uc010rsy.1_Missense_Mutation_p.V54A|DLG2_uc010rsz.1_Missense_Mutation_p.V87A|DLG2_uc010rta.1_Missense_Mutation_p.V87A|DLG2_uc001pak.2_Missense_Mutation_p.V192A|DLG2_uc010rtb.1_Missense_Mutation_p.V54A|DLG2_uc001pal.1_Missense_Mutation_p.V87A|DLG2_uc001pam.1_Missense_Mutation_p.V126A NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 87 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGTCCCATTGACCTGTAAATA 0.328 FZD4 8322 broad.mit.edu 37 11 86663160 86663160 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:86663160C>T uc001pce.2 - 2 944 c.638G>A c.(637-639)CGC>CAC p.R213H PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 213 Extracellular (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTTGGCTGAGCGGCTGTATAA 0.502 FAT3 120114 broad.mit.edu 37 11 92086520 92086520 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:92086520T>C uc001pdj.3 + 1 1259 c.1242T>C c.(1240-1242)GGT>GGC p.G414G NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 414 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TATCTCCTGGTGAGGATGCAG 0.418 TCGA Ovarian(4;0.039) DYNC2H1 79659 broad.mit.edu 37 11 103091455 103091455 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:103091455T>G uc001pho.2 + 57 9194 c.9050T>G c.(9049-9051)CTT>CGT p.L3017R DYNC2H1_uc001phn.1_Missense_Mutation_p.L3017R|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3017 Stalk (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGAGATATTCTTGAAGGAGTT 0.353 DDI1 414301 broad.mit.edu 37 11 103907607 103907607 + Silent SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:103907607C>G uc001phr.2 + 1 300 c.57C>G c.(55-57)CTC>CTG p.L19L PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 19 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CCTTCTCTCTCCAGGTCAGCC 0.527 EXPH5 23086 broad.mit.edu 37 11 108385274 108385274 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:108385274C>T uc001pkk.2 - 6 1071 c.960G>A c.(958-960)TCG>TCA p.S320S EXPH5_uc010rvy.1_Silent_p.S132S|EXPH5_uc010rvz.1_Silent_p.S164S|EXPH5_uc010rwa.1_Silent_p.S244S NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 320 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CAAAACACAGCGAAGTACTGC 0.448 ARHGAP20 57569 broad.mit.edu 37 11 110494969 110494969 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:110494969C>T uc001pkz.1 - 5 705 c.420G>A c.(418-420)GTG>GTA p.V140V ARHGAP20_uc001pky.1_Silent_p.V117V|ARHGAP20_uc009yyb.1_Silent_p.V104V|ARHGAP20_uc001pla.1_Silent_p.V104V NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 140 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CCACTTCATCCACACAGCTTG 0.373 TTC12 54970 broad.mit.edu 37 11 113187019 113187019 + Nonsense_Mutation SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:113187019A>T uc001pnu.2 + 2 145 c.40A>T c.(40-42)AAA>TAA p.K14* TTC12_uc001pnv.2_Nonsense_Mutation_p.K14*|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_5'UTR NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 14 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GAAATTTCTTAAAAATGTGGA 0.333 CADM1 23705 broad.mit.edu 37 11 115088652 115088652 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:115088652C>T uc001ppi.3 - 6 910 c.781G>A c.(781-783)GAC>AAC p.D261N CADM1_uc001ppf.3_Missense_Mutation_p.D261N|CADM1_uc001ppk.3_Missense_Mutation_p.D261N|CADM1_uc001ppj.3_Missense_Mutation_p.D261N|CADM1_uc001ppl.2_Missense_Mutation_p.D261N|CADM1_uc001pph.3_Missense_Mutation_p.D13N NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 261 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TCAAGCGCGTCCCCTTCCCGG 0.458 APOA5 116519 broad.mit.edu 37 11 116661524 116661524 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:116661524C>G uc001ppr.2 - 3 429 c.421G>C c.(421-423)GCC>CCC p.A141P ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.A141P|APOA5_uc009yzf.2_Missense_Mutation_p.A141P|APOA5_uc009yzg.2_Missense_Mutation_p.A167P NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 141 Potential. acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) ACGCGCAGGGCCACCTGCTCC 0.647 FOXR1 283150 broad.mit.edu 37 11 118851219 118851219 + Missense_Mutation SNP C C T rs117450447 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:118851219C>T uc001pui.2 + 5 856 c.631C>T c.(631-633)CGG>TGG p.R211W FOXR1_uc001puj.2_Intron|FOXR1_uc001puk.2_Missense_Mutation_p.R42W NM_181721 NP_859072 Q6PIV2 FOXR1_HUMAN forkhead box R1 211 Fork-head. embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) CCCCTTTTTCCGGACGGCCCC 0.557 TMEM136 219902 broad.mit.edu 37 11 120201050 120201050 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:120201050G>A uc001pxh.1 + 3 627 c.564G>A c.(562-564)ACG>ACA p.T188T TMEM136_uc001pxg.2_Intron|TMEM136_uc010rzm.1_Intron|TMEM136_uc001pxj.2_Silent_p.T210T|TMEM136_uc009zas.1_Silent_p.T74T|TMEM136_uc001pxi.1_Silent_p.T74T NM_174926 NP_777586 Q6ZRR5 TM136_HUMAN transmembrane protein 136 188 TLC. integral to membrane ovary(1) 1 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.07e-06) TCTCCCCCACGCCTAAGTGGT 0.507 TECTA 7007 broad.mit.edu 37 11 120998548 120998548 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:120998548G>A uc010rzo.1 + 8 1862 c.1862G>A c.(1861-1863)CGG>CAG p.R621Q NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 621 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACGGCCTCGCGGAACTGCGCC 0.657 TECTA 7007 broad.mit.edu 37 11 121038922 121038922 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:121038922C>T uc010rzo.1 + 18 5746 c.5746C>T c.(5746-5748)CTA>TTA p.L1916L NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1916 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GAAGCCTATGCTAAGGTAAGG 0.433 TECTA 7007 broad.mit.edu 37 11 121060508 121060508 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:121060508C>T uc010rzo.1 + 22 6286 c.6286C>T c.(6286-6288)CAG>TAG p.Q2096* NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 2096 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGGGTGTGAGCAGATTTGCAC 0.532 OR8B8 26493 broad.mit.edu 37 11 124310278 124310278 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:124310278G>T uc010sal.1 - 1 704 c.704C>A c.(703-705)TCC>TAC p.S235Y NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 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) GAAGGCTTTGGACCTGCCCTC 0.473 ST3GAL4 6484 broad.mit.edu 37 11 126279292 126279292 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:126279292C>T uc001qds.2 + 9 976 c.757C>T c.(757-759)CGG>TGG p.R253W ST3GAL4_uc001qdt.2_Missense_Mutation_p.R249W|ST3GAL4_uc009zcc.2_Missense_Mutation_p.R89W|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R242W|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R249W|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R253W|ST3GAL4_uc009zce.2_Missense_Mutation_p.R249W|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R242W|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R210W|ST3GAL4_uc001qdy.2_Missense_Mutation_p.R89W|ST3GAL4_uc001qdz.2_Missense_Mutation_p.R89W NM_006278 NP_006269 Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 253 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) GCAACAGCCACGGAAGATTAA 0.527 ARHGAP32 9743 broad.mit.edu 37 11 128838937 128838937 + Silent SNP G G A rs144742823 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:128838937G>A uc009zcp.2 - 22 6129 c.6129C>T c.(6127-6129)GGC>GGT p.G2043G ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.G1002G|ARHGAP32_uc001qez.2_Silent_p.G1694G NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 2043 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 TCCCCATGCCGCCCCCTCCAA 0.597 GLB1L2 89944 broad.mit.edu 37 11 134244523 134244523 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:134244523A>C uc001qhp.2 + 18 1923 c.1735A>C c.(1735-1737)AAT>CAT p.N579H GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 579 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TGTATTCATCAATGGCCAGAA 0.547 ERC1 23085 broad.mit.edu 37 12 1137182 1137182 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:1137182C>T uc001qjb.2 + 2 354 c.113C>T c.(112-114)ACG>ATG p.T38M ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.T38M|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.T38M NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 38 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ACCAACAGTACGGGAGGGAGT 0.577 FOXM1 2305 broad.mit.edu 37 12 2983600 2983600 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:2983600C>T uc001qlf.2 - 2 310 c.45G>A c.(43-45)AGG>AGA p.R15R TULP3_uc010sef.1_5'Flank|FOXM1_uc001qle.2_Silent_p.R15R|FOXM1_uc001qlg.2_Silent_p.R15R|FOXM1_uc009zea.2_Silent_p.R15R|FOXM1_uc009zeb.2_Silent_p.R15R|C12orf32_uc001qlh.2_5'Flank|C12orf32_uc010see.1_5'Flank|C12orf32_uc001qli.2_5'Flank NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 15 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GAAGGGGCAGCCTCCGTCTTT 0.498 KCNA1 3736 broad.mit.edu 37 12 5020676 5020676 + Silent SNP C C T rs139476802 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:5020676C>T uc001qnh.2 + 2 1237 c.132C>T c.(130-132)TCC>TCT p.S44S NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 44 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCAACATCTCCGGGCTGCGCT 0.672 KCNA5 3741 broad.mit.edu 37 12 5153669 5153669 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:5153669A>G uc001qni.2 + 1 585 c.356A>G c.(355-357)CAC>CGC p.H119R NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 119 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TCCCTGCACCACCAGCGCGTC 0.706 VWF 7450 broad.mit.edu 37 12 6161888 6161888 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:6161888G>A uc001qnn.1 - 16 2257 c.2007C>T c.(2005-2007)TGC>TGT p.C669C VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 669 TIL 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AGAGAGAGCGGCAGGTCAGGT 0.612 TNFRSF1A 7132 broad.mit.edu 37 12 6439831 6439831 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:6439831A>G uc001qnu.2 - 7 953 c.672T>C c.(670-672)CTT>CTC p.L224L TNFRSF1A_uc001qnt.2_Silent_p.L116L|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Silent_p.L116L|TNFRSF1A_uc009zek.2_Silent_p.L181L NM_001065 NP_001056 P19438 TNR1A_HUMAN tumor necrosis factor receptor 1 precursor 224 Helical; (Potential). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity lung(2)|skin(1) 3 GGAGGGATAAAAGGCAAAGAC 0.547 CLSTN3 9746 broad.mit.edu 37 12 7288865 7288865 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:7288865G>A uc001qsr.2 + 6 1084 c.806G>A c.(805-807)CGC>CAC p.R269H CLSTN3_uc001qss.2_Missense_Mutation_p.R281H NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 269 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 CCTGGTATCCGCCTGGAGACC 0.557 SLC2A14 144195 broad.mit.edu 37 12 7967113 7967113 + Silent SNP G G A rs146444974 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:7967113G>A uc001qtk.2 - 16 2155 c.1362C>T c.(1360-1362)TAC>TAT p.Y454Y SLC2A14_uc001qtl.2_Silent_p.Y431Y|SLC2A14_uc001qtm.2_Silent_p.Y431Y|SLC2A14_uc010sgg.1_Silent_p.Y345Y|SLC2A14_uc001qtn.2_Silent_p.Y454Y|SLC2A14_uc001qto.2_Silent_p.Y89Y|SLC2A14_uc010sgh.1_Silent_p.Y469Y NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 454 Helical; Name=12; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) TAATAAAAACGTAGGCTCCTA 0.398 A2M 2 broad.mit.edu 37 12 9246106 9246106 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:9246106C>T uc001qvk.1 - 18 2308 c.2195G>A c.(2194-2196)CGA>CAA p.R732Q A2M_uc009zgk.1_Missense_Mutation_p.R582Q NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 732 Inhibitory. blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GAAGTACTTTCGTACGGTCTC 0.458 PZP 5858 broad.mit.edu 37 12 9309872 9309872 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:9309872A>G uc001qvl.2 - 28 3478 c.3449T>C c.(3448-3450)GTC>GCC p.V1150A PZP_uc009zgl.2_Missense_Mutation_p.V936A NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 CTTGGTGTAGACATGGCTCCC 0.463 KLRD1 3824 broad.mit.edu 37 12 10462078 10462078 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:10462078T>A uc001qxw.3 + 3 296 c.99T>A c.(97-99)AAT>AAA p.N33K KLRD1_uc001qxx.3_Missense_Mutation_p.N33K|KLRD1_uc001qxy.3_Intron|KLRD1_uc009zhh.2_Missense_Mutation_p.N33K|KLRD1_uc009zhi.2_Missense_Mutation_p.N33K|KLRD1_uc001qxz.3_Missense_Mutation_p.N33K NM_001114396 NP_001107868 Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, 33 Extracellular (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 TGTTGAAAAATTGTAAGTTTT 0.323 KLRC1 3821 broad.mit.edu 37 12 10603715 10603715 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:10603715G>A uc001qyl.2 - 2 205 c.41C>T c.(40-42)CCC>CTC p.P14L KLRC1_uc009zhm.1_Missense_Mutation_p.P14L|KLRC1_uc001qym.2_Missense_Mutation_p.P14L|KLRC1_uc001qyn.2_Missense_Mutation_p.P14L|KLRC1_uc001qyo.2_Missense_Mutation_p.P14L NM_002259 NP_002250 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, 14 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 TGGGTTTGGGGGCAGATTCAG 0.388 ETV6 2120 broad.mit.edu 37 12 11992235 11992235 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:11992235T>G uc001qzz.2 + 3 599 c.325T>G c.(325-327)TCA>GCA p.S109A NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 109 PNT. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) ATCTCCTCATTCAGGTGAGAG 0.468 T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL MANSC1 54682 broad.mit.edu 37 12 12483888 12483888 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:12483888A>G uc001rai.1 - 4 627 c.369T>C c.(367-369)TTT>TTC p.F123F MANSC1_uc010shm.1_Silent_p.F57F|MANSC1_uc001raj.1_Silent_p.F89F|MANSC1_uc009zht.1_Silent_p.F42F NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 123 Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TCAAAGATGGAAAATCTGAAA 0.393 DUSP16 80824 broad.mit.edu 37 12 12630143 12630143 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:12630143G>A uc001rao.1 - 7 2254 c.1622C>T c.(1621-1623)TCG>TTG p.S541L DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.S393L NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 541 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) CAAGATATCCGAGTGCCAGCC 0.577 PYROXD1 79912 broad.mit.edu 37 12 21605065 21605065 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:21605065C>T uc001rew.2 + 5 592 c.465C>T c.(463-465)AAC>AAT p.N155N PYROXD1_uc009ziq.2_Intron|PYROXD1_uc009zir.2_Intron NM_024854 NP_079130 Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase 155 oxidoreductase activity ovary(1) 1 TCATAGGGAACGGTGGTATTG 0.224 ABCC9 10060 broad.mit.edu 37 12 21954066 21954066 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:21954066C>T uc001rfh.2 - 38 4582 c.4562G>A c.(4561-4563)CGA>CAA p.R1521Q ABCC9_uc001rfg.2_Missense_Mutation_p.R50Q NM_020297 NP_064693 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1521 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AATATTTCCTCGCTTCATCAC 0.423 ITPR2 3709 broad.mit.edu 37 12 26572089 26572089 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:26572089G>A uc001rhg.2 - 50 7420 c.7003C>T c.(7003-7005)CGT>TGT p.R2335C ITPR2_uc009zjg.1_Missense_Mutation_p.R486C NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2335 Extracellular (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CGGTACCCACGGGTGAACGTG 0.433 FAR2 55711 broad.mit.edu 37 12 29469773 29469773 + Splice_Site SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:29469773G>A uc001ris.3 + 9 1103 c.956_splice c.e9-1 p.G319_splice FAR2_uc001rit.2_Splice_Site_p.G319_splice|FAR2_uc009zjm.2_Splice_Site_p.G222_splice|uc001riu.1_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 TTTTTCCCCAGGAGTCCAAGT 0.398 PRICKLE1 144165 broad.mit.edu 37 12 42860085 42860085 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:42860085C>A uc010skv.1 - 6 973 c.686G>T c.(685-687)AGG>ATG p.R229M PRICKLE1_uc001rnl.2_Missense_Mutation_p.R229M|PRICKLE1_uc010skw.1_Missense_Mutation_p.R229M|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R229M NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 229 LIM zinc-binding 2. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CATGATATACCTCTGTCCTCC 0.498 SLC38A1 81539 broad.mit.edu 37 12 46592455 46592455 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:46592455C>T uc001rpa.2 - 14 1333 c.1075G>A c.(1075-1077)GCT>ACT p.A359T SLC38A1_uc001rpb.2_Missense_Mutation_p.A359T|SLC38A1_uc001rpc.2_Missense_Mutation_p.A359T|SLC38A1_uc001rpd.2_Missense_Mutation_p.A359T|SLC38A1_uc001rpe.2_Missense_Mutation_p.A359T|SLC38A1_uc009zkj.1_Missense_Mutation_p.A359T NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN amino acid transporter system A1 359 Helical; (Potential). cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity ovary(2)|skin(2)|central_nervous_system(1) 5 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) ACAATGACAGCCAGCCGCACT 0.468 MLL2 8085 broad.mit.edu 37 12 49443676 49443676 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:49443676G>A uc001rta.3 - 11 3695 c.3695C>T c.(3694-3696)CCG>CTG p.P1232L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1232 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ACCCCCCTCCGGGTCTGGAGA 0.587 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) TUBA1B 10376 broad.mit.edu 37 12 49523374 49523374 + Silent SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:49523374T>G uc001rtm.2 - 2 356 c.135A>C c.(133-135)GGA>GGC p.G45G TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Silent_p.G10G|TUBA1B_uc001rtl.2_Silent_p.G10G|TUBA1B_uc001rtn.2_5'UTR NM_006082 NP_006073 P68363 TBA1B_HUMAN tubulin, alpha, ubiquitous 45 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding 0 AGGAGTCATCTCCTCCCCCAA 0.572 SPATS2 65244 broad.mit.edu 37 12 49893963 49893963 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:49893963C>T uc001rud.2 + 9 1803 c.814C>T c.(814-816)CAA>TAA p.Q272* SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Nonsense_Mutation_p.Q272*|SPATS2_uc001ruf.2_Nonsense_Mutation_p.Q272*|SPATS2_uc001rug.2_Nonsense_Mutation_p.Q272* NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 272 cytoplasm breast(1) 1 GAAAATGAAACAAGCCTTTGC 0.383 BIN2 51411 broad.mit.edu 37 12 51693477 51693477 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:51693477G>A uc001ryg.2 - 6 482 c.430C>T c.(430-432)CGG>TGG p.R144W BIN2_uc009zlz.2_Missense_Mutation_p.R112W|BIN2_uc001ryh.2_Missense_Mutation_p.R20W|BIN2_uc010sng.1_Missense_Mutation_p.R118W NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 144 BAR. cytoplasm protein binding ovary(1) 1 ACGAGTTTCCGACCCCGCTTG 0.493 ACVR1B 91 broad.mit.edu 37 12 52369163 52369163 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:52369163G>A uc001rzn.2 + 2 248 c.206G>A c.(205-207)TGC>TAC p.C69Y ACVR1B_uc001rzl.2_Missense_Mutation_p.C69Y|ACVR1B_uc001rzm.2_Missense_Mutation_p.C69Y|ACVR1B_uc010snn.1_Missense_Mutation_p.C69Y NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 69 Extracellular (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GTGCGCACCTGCATCCCCAAA 0.587 ACVR1B 91 broad.mit.edu 37 12 52387827 52387827 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:52387827G>A uc001rzn.2 + 9 1493 c.1451G>A c.(1450-1452)CGC>CAC p.R484H ACVR1B_uc010snn.1_Missense_Mutation_p.R525H NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 484 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GGCGCAGCCCGCCTGACGGCC 0.622 EIF4B 1975 broad.mit.edu 37 12 53428436 53428436 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:53428436C>T uc001sbh.3 + 10 1455 c.1249C>T c.(1249-1251)CGG>TGG p.R417W EIF4B_uc010snu.1_Missense_Mutation_p.R417W|EIF4B_uc010snv.1_Missense_Mutation_p.R378W|EIF4B_uc001sbi.2_Missense_Mutation_p.R169W NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 417 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 GGAACGGGAACGGTCGAGGAC 0.502 OR6C2 341416 broad.mit.edu 37 12 55846644 55846644 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:55846644A>G uc001sgz.1 + 1 647 c.647A>G c.(646-648)TAC>TGC p.Y216C NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 216 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 ATTCTGTCCTACTTGTACATA 0.398 GLS2 27165 broad.mit.edu 37 12 56867049 56867049 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:56867049C>T uc001slj.2 - 14 1691 c.1412G>A c.(1411-1413)CGG>CAG p.R471Q GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.R206Q|GLS2_uc009zot.2_Missense_Mutation_p.R132Q NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 471 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTCTAACTTCCGAGCACAGTG 0.363 BAZ2A 11176 broad.mit.edu 37 12 56995394 56995394 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:56995394G>A uc001slq.1 - 20 4207 c.4013C>T c.(4012-4014)CCG>CTG p.P1338L BAZ2A_uc001slp.1_Missense_Mutation_p.P1336L|BAZ2A_uc001slo.1_Missense_Mutation_p.P166L|BAZ2A_uc009zov.1_Missense_Mutation_p.P308L|BAZ2A_uc009zow.1_Missense_Mutation_p.P1306L NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1338 Pro-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 TGCAGGGGGCGGTGTGGGGGC 0.567 NXPH4 11247 broad.mit.edu 37 12 57619197 57619197 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:57619197A>G uc010srf.1 + 2 769 c.594A>G c.(592-594)GCA>GCG p.A198A NXPH4_uc009zpj.2_Silent_p.A4A NM_007224 NP_009155 O95158 NXPH4_HUMAN neurexophilin 4 precursor 198 IV (linker domain). neuropeptide signaling pathway extracellular region 0 TGGCAGCAGCAGCGGCGGGGC 0.751 DPY19L2 283417 broad.mit.edu 37 12 64062022 64062022 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:64062022G>A uc001srp.1 - 1 333 c.152C>T c.(151-153)TCC>TTC p.S51F DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 51 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GGACCTCCAGGAGCCCCTTGG 0.642 GRIP1 23426 broad.mit.edu 37 12 66838485 66838485 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:66838485G>A uc001stk.2 - 12 1651 c.1410C>T c.(1408-1410)GAC>GAT p.D470D GRIP1_uc010sta.1_Silent_p.D414D|GRIP1_uc001stj.2_Silent_p.D252D|GRIP1_uc001stl.1_Silent_p.D362D|GRIP1_uc001stm.2_Silent_p.D470D NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 522 PDZ 4. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CCATCACTCTGTCTCCAATCT 0.468 NUP107 57122 broad.mit.edu 37 12 69085873 69085873 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:69085873G>T uc001suf.2 + 5 544 c.429G>T c.(427-429)GAG>GAT p.E143D NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Missense_Mutation_p.E114D NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 143 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TGTTACGTGAGGATGATCCTG 0.443 NUP107 57122 broad.mit.edu 37 12 69109462 69109462 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:69109462A>G uc001suf.2 + 12 1140 c.1025A>G c.(1024-1026)GAT>GGT p.D342G NUP107_uc001sug.2_Missense_Mutation_p.D189G|NUP107_uc010stj.1_Missense_Mutation_p.D313G NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 342 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GATAGAGAAGATGAAGTTAGA 0.358 FRS2 10818 broad.mit.edu 37 12 69967824 69967824 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:69967824C>T uc001suy.2 + 10 1126 c.616C>T c.(616-618)CGG>TGG p.R206W FRS2_uc001suz.2_Missense_Mutation_p.R206W|FRS2_uc009zrj.2_Missense_Mutation_p.R206W|FRS2_uc009zrk.2_Missense_Mutation_p.R206W NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 206 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCAAGAAGAGCGGAAAAACCG 0.398 CAPS2 84698 broad.mit.edu 37 12 75687145 75687145 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:75687145A>G uc001sxk.3 - 13 1301 c.1104T>C c.(1102-1104)GGT>GGC p.G368G CAPS2_uc001sxm.3_Silent_p.G136G|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.3_Silent_p.G104G|CAPS2_uc001sxj.3_Silent_p.G279G|CAPS2_uc001sxl.3_Silent_p.G349G NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 368 calcium ion binding ovary(2) 2 TCAAGGTTGCACCCTAAACAA 0.308 KRR1 11103 broad.mit.edu 37 12 75900126 75900126 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:75900126T>C uc001sxt.2 - 5 614 c.573A>G c.(571-573)TCA>TCG p.S191S KRR1_uc009zsc.2_Silent_p.S191S|KRR1_uc010stx.1_3'UTR NM_007043 NP_008974 Q13601 KRR1_HUMAN HIV-1 rev binding protein 2 191 KH. rRNA processing nucleolus|ribonucleoprotein complex RNA binding ovary(1)|pancreas(1) 2 GTCCAATGGCTGAAACTGTGT 0.308 LRRIQ1 84125 broad.mit.edu 37 12 85466854 85466854 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:85466854T>C uc001tac.2 + 11 2976 c.2865T>C c.(2863-2865)CTT>CTC p.L955L LRRIQ1_uc001tab.1_Silent_p.L955L NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 955 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GTAATTTCCTTATCTCCCACT 0.239 KITLG 4254 broad.mit.edu 37 12 88912617 88912617 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:88912617C>T uc001tav.2 - 4 403 c.220G>A c.(220-222)GTA>ATA p.V74I KITLG_uc009zsn.2_Missense_Mutation_p.V2I|KITLG_uc001taw.2_Missense_Mutation_p.V74I|KITLG_uc009zso.1_Intron NM_000899 NP_000890 P21583 SCF_HUMAN KIT ligand isoform b precursor 74 Extracellular (Potential). cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding ovary(1) 1 AATTGTACTACCATCTCGCTT 0.348 Testicular_Cancer_Familial_Clustering_of UBE3B 89910 broad.mit.edu 37 12 109935694 109935694 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:109935694C>A uc001top.2 + 10 1388 c.785C>A c.(784-786)GCT>GAT p.A262D UBE3B_uc001toq.2_Missense_Mutation_p.A262D|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.A262D NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 262 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TCTGTGCCTGCTCTGGTGACT 0.473 TRPV4 59341 broad.mit.edu 37 12 110226265 110226265 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:110226265G>T uc001tpj.1 - 12 2243 c.2148C>A c.(2146-2148)GCC>GCA p.A716A TRPV4_uc001tpg.1_Silent_p.A682A|TRPV4_uc001tph.1_Silent_p.A669A|TRPV4_uc001tpi.1_Silent_p.A609A|TRPV4_uc001tpk.1_Silent_p.A716A|TRPV4_uc001tpl.1_Silent_p.A656A NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 716 Cytoplasmic (Potential). A -> S (in SMDK). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CGCCCATGAGGGCAATGAGCA 0.597 ACAD10 80724 broad.mit.edu 37 12 112191598 112191598 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:112191598G>T uc001tsq.2 + 19 3040 c.2840G>T c.(2839-2841)GGG>GTG p.G947V ACAD10_uc009zvx.2_Missense_Mutation_p.G978V|ACAD10_uc001tss.1_Intron NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 947 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 TTGGCTTTTGGGAAGCCCCTG 0.672 OREG0022130 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C12orf51 283450 broad.mit.edu 37 12 112691953 112691953 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:112691953G>A uc009zwc.2 - 15 2063 c.2045C>T c.(2044-2046)GCG>GTG p.A682V C12orf51_uc010syk.1_Missense_Mutation_p.A514V|C12orf51_uc001tts.2_Missense_Mutation_p.A505V|C12orf51_uc001ttt.3_Missense_Mutation_p.A503V NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GTTAGGCCCCGCATATATCAC 0.388 RBM19 9904 broad.mit.edu 37 12 114397939 114397939 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:114397939G>A uc009zwi.2 - 3 408 c.264C>T c.(262-264)GCC>GCT p.A88A RBM19_uc001tvn.3_Silent_p.A88A|RBM19_uc001tvm.2_Silent_p.A88A NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 88 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) GTTTGCTCCAGGCTCTGGGTT 0.532 HNF1A 6927 broad.mit.edu 37 12 121426811 121426811 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:121426811C>T uc001tzg.2 + 2 525 c.502C>T c.(502-504)CGC>TGC p.R168C HNF1A_uc001tze.1_Missense_Mutation_p.R168C|HNF1A_uc001tzf.2_Missense_Mutation_p.R168C|HNF1A_uc010szn.1_Missense_Mutation_p.R168C NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 168 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R168C(1) liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTGGTACGTCCGCAAGCAGCG 0.617 Hepatic_Adenoma_Familial_Clustering_of DHX37 57647 broad.mit.edu 37 12 125434766 125434766 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:125434766C>T uc001ugy.2 - 24 3244 c.3145G>A c.(3145-3147)GCC>ACC p.A1049T DHX37_uc001ugz.1_Missense_Mutation_p.A136T NM_032656 NP_116045 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 1049 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) ACCTCGATGGCGGGGAGCGGC 0.652 SLC15A4 121260 broad.mit.edu 37 12 129283815 129283815 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:129283815T>C uc001uhu.2 - 7 1615 c.1562A>G c.(1561-1563)CAC>CGC p.H521R SLC15A4_uc001uhv.2_RNA NM_145648 NP_663623 Q8N697 S15A4_HUMAN solute carrier family 15, member 4 521 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) AAAGTCTGTGTGACTGCTCAT 0.532 TMEM132D 121256 broad.mit.edu 37 12 129559044 129559044 + Silent SNP C C A rs143332531 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:129559044C>A uc009zyl.1 - 9 3004 c.2676G>T c.(2674-2676)GTG>GTT p.V892V TMEM132D_uc001uia.2_Silent_p.V430V NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 892 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGGGGAGGTCCACCTGGGCTG 0.532 TMEM132D 121256 broad.mit.edu 37 12 130184741 130184741 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:130184741G>A uc009zyl.1 - 2 910 c.582C>T c.(580-582)GCC>GCT p.A194A NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 194 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCTCCAGCTCGGCCACGCACA 0.701 FZD10 11211 broad.mit.edu 37 12 130647661 130647661 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:130647661C>G uc001uii.2 + 1 630 c.174C>G c.(172-174)CAC>CAG p.H58Q uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 58 FZ.|Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TGATGGGCCACGAGAACCAGC 0.632 ZNF10 7556 broad.mit.edu 37 12 133732657 133732657 + Silent SNP C C T rs11147260 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:133732657C>T uc009zzb.2 + 5 1272 c.825C>T c.(823-825)AGC>AGT p.S275S ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.S275S NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 275 C2H2-type 2. Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AATTCTTCAGCTGGCGCTCTA 0.398 PARP4 143 broad.mit.edu 37 13 25030523 25030523 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:25030523G>A uc001upl.2 - 21 2624 c.2518C>T c.(2518-2520)CTC>TTC p.L840F PARP4_uc010tdc.1_Missense_Mutation_p.L840F NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 840 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ATTCTTGGGAGATAGGCAGCA 0.423 RNF17 56163 broad.mit.edu 37 13 25376644 25376644 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:25376644G>A uc001upr.2 + 14 1925 c.1884G>A c.(1882-1884)CCG>CCA p.P628P RNF17_uc010tdd.1_Silent_p.P487P|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.P628P|RNF17_uc001ups.2_Silent_p.P567P NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 628 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AACCACCACCGAATAAAATAA 0.323 PAN3 255967 broad.mit.edu 37 13 28841270 28841270 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:28841270G>A uc001urz.2 + 10 1182 c.1174G>A c.(1174-1176)GAC>AAC p.D392N PAN3_uc010tdo.1_Missense_Mutation_p.D538N|PAN3_uc001ury.2_Missense_Mutation_p.D226N|PAN3_uc001urx.2_Missense_Mutation_p.D338N NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease 538 Protein kinase.|Interaction with PAN2. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GGTGTTGGTCGACATGTGGAA 0.378 FLT1 2321 broad.mit.edu 37 13 29001439 29001439 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:29001439G>A uc001usb.3 - 10 1578 c.1293C>T c.(1291-1293)TAC>TAT p.Y431Y FLT1_uc010aar.1_Silent_p.Y431Y|FLT1_uc001usc.3_Silent_p.Y431Y|FLT1_uc010tdp.1_Silent_p.Y431Y NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 431 Ig-like C2-type 5.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CGGCCTTTTCGTAAATCTGGG 0.493 SLC46A3 283537 broad.mit.edu 37 13 29286870 29286870 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:29286870A>C uc001usi.2 - 2 1977 c.1007T>G c.(1006-1008)ATG>AGG p.M336R SLC46A3_uc001usg.2_Missense_Mutation_p.M261R|SLC46A3_uc001usj.2_Missense_Mutation_p.M336R|SLC46A3_uc001ush.2_Missense_Mutation_p.M336R|SLC46A3_uc001usk.2_Missense_Mutation_p.M261R NM_181785 NP_861450 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 isoform a 336 Helical; (Potential). transmembrane transport integral to membrane central_nervous_system(1)|skin(1) 2 Lung SC(185;0.0367) all cancers(112;0.159) CATTCCTGTCATCGTGGTAAA 0.373 UBL3 5412 broad.mit.edu 37 13 30341767 30341767 + Missense_Mutation SNP G G C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:30341767G>C uc001usp.2 - 4 1434 c.289C>G c.(289-291)CCA>GCA p.P97A NM_007106 NP_009037 O95164 UBL3_HUMAN ubiquitin-like 3 precursor 97 intracellular|plasma membrane 0 Lung SC(185;0.0281) all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147) TGAGAGTTTGGCTCTGGTAAT 0.398 FRY 10129 broad.mit.edu 37 13 32753081 32753081 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:32753081C>T uc001utx.2 + 22 3278 c.2782C>T c.(2782-2784)CCC>TCC p.P928S FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 928 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGTTGCAAAACCCAGTATTAT 0.443 FRY 10129 broad.mit.edu 37 13 32821607 32821607 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:32821607A>G uc001utx.2 + 48 7472 c.6976A>G c.(6976-6978)AAA>GAA p.K2326E FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2326 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATTACCTGGGAAAACCCTGGA 0.408 FRY 10129 broad.mit.edu 37 13 32850638 32850638 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:32850638G>A uc001utx.2 + 57 8820 c.8324G>A c.(8323-8325)AGT>AAT p.S2775N FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.S330N|FRY_uc001utz.2_Missense_Mutation_p.S300N|FRY_uc010tdx.1_Missense_Mutation_p.S145N NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2775 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTCAAGTTCAGTGTGTTAGAA 0.388 BRCA2 675 broad.mit.edu 37 13 32929044 32929044 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:32929044C>T uc001uub.1 + 14 7281 c.7054C>T c.(7054-7056)CCT>TCT p.P2352S NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2352 Interaction with FANCD2. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTTTACCGCACCTGGTCAAGA 0.328 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) NBEA 26960 broad.mit.edu 37 13 35517239 35517239 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:35517239G>A uc001uvb.2 + 2 488 c.282G>A c.(280-282)ACG>ACA p.T94T NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 94 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCGTGGAGACGGTGCTCAACC 0.572 FREM2 341640 broad.mit.edu 37 13 39424294 39424294 + Missense_Mutation SNP C C T rs114837786 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:39424294C>T uc001uwv.2 + 9 6808 c.6499C>T c.(6499-6501)CGG>TGG p.R2167W FREM2_uc001uww.2_Missense_Mutation_p.R253W NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2167 Extracellular (Potential).|Calx-beta 4. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATGCTACACCCGGCAGGGGTC 0.463 MRPS31 10240 broad.mit.edu 37 13 41323298 41323298 + Nonsense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:41323298C>A uc001uxm.3 - 6 1009 c.934G>T c.(934-936)GAG>TAG p.E312* NM_005830 NP_005821 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 precursor 312 mitochondrion|ribosome protein domain specific binding 0 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) ATTGGGAACTCCCATAGTTTC 0.373 KIAA0564 23078 broad.mit.edu 37 13 42273343 42273343 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:42273343A>G uc001uyj.2 - 29 3498 c.3428T>C c.(3427-3429)ATG>ACG p.M1143T NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1143 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TTTCCCAGTCATATTCATAAA 0.423 EPSTI1 94240 broad.mit.edu 37 13 43543269 43543269 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:43543269T>A uc001uyw.1 - 3 368 c.292A>T c.(292-294)AAC>TAC p.N98Y EPSTI1_uc001uyx.1_Missense_Mutation_p.N98Y NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 isoform 1 98 Potential. ovary(1) 1 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) TTAGCTCTGTTCTGCTCCTTC 0.532 ENOX1 55068 broad.mit.edu 37 13 43900600 43900600 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:43900600C>T uc001uza.3 - 10 1398 c.1098G>A c.(1096-1098)TCG>TCA p.S366S ENOX1_uc001uzb.3_Silent_p.S366S|ENOX1_uc001uzc.3_Silent_p.S366S|ENOX1_uc001uyz.3_Intron|ENOX1_uc010tfm.1_Silent_p.S179S NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 366 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GCTGGGCTTTCGAGAAATGGT 0.418 SIAH3 283514 broad.mit.edu 37 13 46425655 46425655 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:46425655A>G uc001vap.2 - 1 192 c.110T>C c.(109-111)GTC>GCC p.V37A NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 37 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 GGGGTTGACGACACAGACAAG 0.532 C13orf18 80183 broad.mit.edu 37 13 46937325 46937325 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:46937325G>A uc010acl.2 - 6 1455 c.850C>T c.(850-852)CCA>TCA p.P284S C13orf18_uc001vbf.3_Missense_Mutation_p.P217S|C13orf18_uc001vbg.3_Missense_Mutation_p.P12S|C13orf18_uc010tfz.1_Missense_Mutation_p.P127S|C13orf18_uc010acm.2_Missense_Mutation_p.P149S|C13orf18_uc010acn.2_Missense_Mutation_p.P69S|C13orf18_uc001vbe.3_Missense_Mutation_p.P284S|C13orf18_uc001vbh.3_Missense_Mutation_p.P284S|C13orf18_uc001vbi.3_Missense_Mutation_p.P127S|C13orf18_uc010aco.1_Missense_Mutation_p.P284S NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 284 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) TCAGTCACTGGGCTGACCTGT 0.373 ATP7B 540 broad.mit.edu 37 13 52532477 52532477 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:52532477G>A uc001vfw.2 - 8 2482 c.2325C>T c.(2323-2325)GCC>GCT p.A775A ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Silent_p.A664A|ATP7B_uc010tgt.1_Silent_p.A775A|ATP7B_uc010tgu.1_Silent_p.A727A|ATP7B_uc010tgv.1_Intron|ATP7B_uc001vfv.2_Silent_p.A47A|ATP7B_uc010tgs.1_Silent_p.A47A|ATP7B_uc010tgw.1_3'UTR NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 775 Helical; (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACCGGCCCAGGGCAATGAACA 0.522 Wilson_disease THSD1 55901 broad.mit.edu 37 13 52971858 52971858 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:52971858T>C uc001vgo.2 - 3 1075 c.530A>G c.(529-531)GAG>GGG p.E177G THSD1_uc001vgp.2_Missense_Mutation_p.E177G|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 177 Extracellular (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TCTTCTTGCCTCAGGAAGACT 0.502 PCDH8 5100 broad.mit.edu 37 13 53418924 53418924 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:53418924C>T uc001vhi.2 - 3 3187 c.2984G>A c.(2983-2985)CGG>CAG p.R995Q PCDH8_uc001vhj.2_Missense_Mutation_p.R898Q NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 995 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CAGAGGATCCCGAGGCAGTGA 0.597 PCDH17 27253 broad.mit.edu 37 13 58206890 58206890 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:58206890C>A uc001vhq.1 + 1 1102 c.210C>A c.(208-210)TCC>TCA p.S70S PCDH17_uc010aec.1_Silent_p.S70S NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 70 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGGAGAACTCCGCACCGCACC 0.682 PCDH17 27253 broad.mit.edu 37 13 58208123 58208123 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:58208123G>A uc001vhq.1 + 1 2335 c.1443G>A c.(1441-1443)GTG>GTA p.V481V PCDH17_uc010aec.1_Silent_p.V481V NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 481 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGCTTCAGGTGCACGAGAACA 0.597 DIAPH3 81624 broad.mit.edu 37 13 60565331 60565331 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:60565331A>C uc001vht.2 - 12 1541 c.1322T>G c.(1321-1323)CTT>CGT p.L441R DIAPH3_uc001vhu.2_Missense_Mutation_p.L178R|DIAPH3_uc001vhv.2_Missense_Mutation_p.L19R NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 441 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAGATGCTGAAGAATAGAAAT 0.294 DACH1 1602 broad.mit.edu 37 13 72134083 72134083 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:72134083C>T uc010thn.1 - 6 1727 c.1304G>A c.(1303-1305)CGT>CAT p.R435H DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 487 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) ATCAGGAACACGCTCCTGCAC 0.498 SLITRK1 114798 broad.mit.edu 37 13 84454827 84454827 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:84454827C>T uc001vlk.2 - 1 1702 c.816G>A c.(814-816)CCG>CCA p.P272P NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 272 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CAGGGGGCGCCGGGAGACTAG 0.552 SLITRK5 26050 broad.mit.edu 37 13 88327712 88327712 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:88327712G>A uc001vln.2 + 2 288 c.69G>A c.(67-69)CTG>CTA p.L23L SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 23 integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCTGGATGCTGCAGACTCTAG 0.458 TGDS 23483 broad.mit.edu 37 13 95244550 95244550 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:95244550G>A uc001vlw.2 - 3 288 c.167C>T c.(166-168)GCA>GTA p.A56V TGDS_uc001vlx.2_RNA NM_014305 NP_055120 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 56 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) CTTCAAGCTTGCACAGTAATC 0.353 CLDN10 9071 broad.mit.edu 37 13 96086251 96086251 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:96086251C>T uc001vmg.2 + 1 399 c.164C>T c.(163-165)GCG>GTG p.A55V CLDN10_uc010tii.1_Intron NM_182848 NP_878268 P78369 CLD10_HUMAN claudin 10 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GCAGGTAACGCGTTGGGTTCT 0.493 CLDN10 9071 broad.mit.edu 37 13 96205116 96205116 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:96205116G>A uc001vmh.2 + 1 170 c.109G>A c.(109-111)GGC>AGC p.G37S CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron NM_006984 NP_008915 P78369 CLD10_HUMAN claudin 10 isoform b 37 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) TACCATCGACGGCACGGTCAT 0.602 RNF113B 140432 broad.mit.edu 37 13 98829457 98829457 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:98829457C>T uc001vnk.2 - 1 65 c.34G>A c.(34-36)GAC>AAC p.D12N FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN ring finger protein 113B 12 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TCTGCTTGGTCGGCCGTCCTT 0.542 STK24 8428 broad.mit.edu 37 13 99109475 99109475 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:99109475C>T uc001vnm.1 - 10 1477 c.1242G>A c.(1240-1242)GCG>GCA p.A414A STK24_uc001vnn.1_Silent_p.A402A|STK24_uc010tim.1_Silent_p.A383A NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 414 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity p.A414V(1) ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TGCCAGGGCACGCCTCCTCCG 0.622 SLC15A1 6564 broad.mit.edu 37 13 99354751 99354751 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:99354751T>C uc001vno.2 - 18 1526 c.1449A>G c.(1447-1449)AAA>AAG p.K483K NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 483 Extracellular (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CATTTTCCCCTTTTTCTGGCT 0.254 NALCN 259232 broad.mit.edu 37 13 101759837 101759837 + Splice_Site SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:101759837C>T uc001vox.1 - 22 2768 c.2579_splice c.e22+1 p.A860_splice NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGTGTACTTACGCGTTGAAGC 0.502 KDELC1 79070 broad.mit.edu 37 13 103449310 103449310 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:103449310G>T uc001vpq.3 - 2 616 c.232C>A c.(232-234)CCA>ACA p.P78T KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 78 Filamin. endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TGCTCCTCTGGTGCTGAGACT 0.418 MYO16 23026 broad.mit.edu 37 13 109779715 109779715 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:109779715G>A uc001vqt.1 + 31 3928 c.3802G>A c.(3802-3804)GTT>ATT p.V1268I MYO16_uc010agk.1_Missense_Mutation_p.V1290I|MYO16_uc010tjh.1_Missense_Mutation_p.V780I NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1268 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCAGTGCCTCGTTGGCCCGTC 0.617 MYO16 23026 broad.mit.edu 37 13 109792726 109792726 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:109792726C>T uc001vqt.1 + 32 4226 c.4100C>T c.(4099-4101)TCG>TTG p.S1367L MYO16_uc010agk.1_Missense_Mutation_p.S1389L NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1367 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GAGGAGATATCGGGGTcccgg 0.527 OR4Q3 441669 broad.mit.edu 37 14 20216007 20216007 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:20216007C>T uc010tkt.1 + 1 421 c.421C>T c.(421-423)CTA>TTA p.L141L NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAACCCCCAGCTATGCCTTTG 0.498 RNASE6 6039 broad.mit.edu 37 14 21250106 21250106 + Missense_Mutation SNP T T G rs139946247 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:21250106T>G uc001vye.3 + 2 541 c.248T>G c.(247-249)ATT>AGT p.I83S NM_005615 NP_005606 Q93091 RNAS6_HUMAN ribonuclease, RNase A family, k6 precursor 83 defense response|RNA catabolic process extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00406) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) TTGCTCAGCATTGTCTGCAAA 0.468 ZNF219 51222 broad.mit.edu 37 14 21559656 21559656 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:21559656C>T uc001vzr.2 - 4 1899 c.1478G>A c.(1477-1479)CGG>CAG p.R493Q ZNF219_uc001vzs.2_Missense_Mutation_p.R493Q|ZNF219_uc010aik.1_Missense_Mutation_p.R493Q NM_016423 NP_057507 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 493 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) GGTGGCGCCCCGGCCCCCTTC 0.602 CHD8 57680 broad.mit.edu 37 14 21860061 21860061 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:21860061C>T uc001was.1 - 35 6073 c.5979G>A c.(5977-5979)GCG>GCA p.A1993A CHD8_uc001war.1_Silent_p.A1889A NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2272 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTACTCCATTCGCCATCAACT 0.428 RABGGTA 5875 broad.mit.edu 37 14 24737768 24737768 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:24737768C>T uc001wof.2 - 9 1380 c.958G>A c.(958-960)GTC>ATC p.V320I RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.V320I|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA NM_004581 NP_004572 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase alpha 320 visual perception Rab geranylgeranyltransferase activity|zinc ion binding 0 GBM - Glioblastoma multiforme(265;0.0184) GTCCAAATGACGCGAAATGTA 0.542 ARHGAP5 394 broad.mit.edu 37 14 32562687 32562687 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:32562687G>T uc001wrl.2 + 2 3051 c.2812G>T c.(2812-2814)GTT>TTT p.V938F ARHGAP5_uc001wrm.2_Missense_Mutation_p.V938F|ARHGAP5_uc001wrn.2_Missense_Mutation_p.V938F|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 938 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTTTAGTGATGTTCTAGAGAA 0.338 BAZ1A 11177 broad.mit.edu 37 14 35222777 35222777 + Silent SNP G G A rs114946696 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:35222777G>A uc001wsk.2 - 27 5176 c.4608C>T c.(4606-4608)CAC>CAT p.H1536H BAZ1A_uc001wsl.2_Silent_p.H1504H NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1536 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TGGGTGTGACGTGGAGTCCAA 0.423 MIA2 117153 broad.mit.edu 37 14 39716693 39716693 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:39716693A>G uc001wux.2 + 4 1109 c.915A>G c.(913-915)CAA>CAG p.Q305Q MIA2_uc010amy.1_Silent_p.Q236Q NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 305 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) CCAAACCTCAATCCACTGGTT 0.413 CDKL1 8814 broad.mit.edu 37 14 50824783 50824783 + Nonsense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:50824783C>A uc010anu.1 - 15 2185 c.2185G>T c.(2185-2187)GGA>TGA p.G729* CDKL1_uc001wxz.2_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 Error:Variant_position_missing_in_Q00532_after_alignment cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) GGACCCCCTCCTCCTTTTTTC 0.532 PTGDR 5729 broad.mit.edu 37 14 52734770 52734770 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:52734770A>G uc001wzq.2 + 1 340 c.238A>G c.(238-240)AGC>GGC p.S80G NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 80 Helical; Name=2; (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GTGCCTCCTAAGCCCGGTGGT 0.647 FERMT2 10979 broad.mit.edu 37 14 53386022 53386022 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:53386022A>G uc001xad.2 - 3 265 c.210T>C c.(208-210)ACT>ACC p.T70T FERMT2_uc001xac.2_Silent_p.T70T|FERMT2_uc001xae.2_Silent_p.T70T|FERMT2_uc001xaf.2_Silent_p.T70T NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 70 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) TCAGAAGCCAAGTTCTCTTCT 0.408 CGRRF1 10668 broad.mit.edu 37 14 54996827 54996827 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:54996827G>T uc001xay.2 + 3 396 c.305G>T c.(304-306)TGC>TTC p.C102F CGRRF1_uc010tra.1_Missense_Mutation_p.C102F|CGRRF1_uc001xaz.2_RNA NM_006568 NP_006559 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 102 cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding ovary(1) 1 TACTGGGGGTGCAGTGTTCAA 0.388 SOCS4 122809 broad.mit.edu 37 14 55510009 55510009 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:55510009C>T uc001xbo.2 + 3 815 c.250C>T c.(250-252)CAT>TAT p.H84Y SOCS4_uc001xbp.2_Missense_Mutation_p.H84Y NM_199421 NP_955453 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 84 intracellular signal transduction|negative regulation of signal transduction|regulation of growth ovary(1)|kidney(1) 2 TTCCTGTGGGCATCGATTTTT 0.443 GPR135 64582 broad.mit.edu 37 14 59930738 59930738 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:59930738C>T uc010apj.2 - 1 1322 c.1207G>A c.(1207-1209)GAG>AAG p.E403K GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 403 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) TAGCCCTCCTCGCGGTTGCGC 0.627 C14orf135 64430 broad.mit.edu 37 14 60582161 60582161 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:60582161C>T uc001xer.3 + 3 1159 c.637C>T c.(637-639)CGG>TGG p.R213W C14orf135_uc001xeq.2_Missense_Mutation_p.R213W|C14orf135_uc010apm.2_5'Flank NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 447 integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) TATTGTCAGACGGATTTTGCT 0.348 KCNH5 27133 broad.mit.edu 37 14 63269270 63269270 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:63269270T>C uc001xfx.2 - 9 1650 c.1599A>G c.(1597-1599)AGA>AGG p.R533R KCNH5_uc001xfy.2_Silent_p.R533R|KCNH5_uc001xfz.1_Silent_p.R475R NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 533 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AGATATCAGCTCTCATGTCCT 0.448 SYNE2 23224 broad.mit.edu 37 14 64681174 64681174 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:64681174A>G uc001xgm.2 + 106 19549 c.19319A>G c.(19318-19320)TAC>TGC p.Y6440C SYNE2_uc001xgl.2_Missense_Mutation_p.Y6440C|SYNE2_uc010apy.2_Missense_Mutation_p.Y2825C|SYNE2_uc001xgn.2_Missense_Mutation_p.Y1402C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.Y410C|SYNE2_uc001xgq.2_Missense_Mutation_p.Y805C|SYNE2_uc001xgr.2_Missense_Mutation_p.Y223C|SYNE2_uc010tsi.1_Missense_Mutation_p.Y74C|SYNE2_uc001xgs.2_Missense_Mutation_p.Y74C|SYNE2_uc001xgt.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6440 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGCCCATACTACAGCGCACTG 0.602 ESR2 2100 broad.mit.edu 37 14 64724058 64724058 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:64724058T>C uc001xha.1 - 6 1445 c.977A>G c.(976-978)GAC>GGC p.D326G ESR2_uc001xgu.2_Missense_Mutation_p.D326G|ESR2_uc001xgv.2_Missense_Mutation_p.D326G|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Missense_Mutation_p.D326G|ESR2_uc001xgy.1_Missense_Mutation_p.D326G|ESR2_uc001xgz.1_Missense_Mutation_p.D326G|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_RNA NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 326 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CCGCACTTGGTCGAACAGGCT 0.572 SPTB 6710 broad.mit.edu 37 14 65234410 65234410 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:65234410G>A uc001xht.2 - 29 6244 c.6190C>T c.(6190-6192)CGC>TGC p.R2064C SPTB_uc001xhr.2_Missense_Mutation_p.R2064C|SPTB_uc001xhs.2_Missense_Mutation_p.R2064C|SPTB_uc001xhu.2_Missense_Mutation_p.R2064C|SPTB_uc010aqi.2_Missense_Mutation_p.R725C NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 2064 Spectrin 17. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCAGCAAAGCGCTCTGCCCAG 0.607 SLC8A3 6547 broad.mit.edu 37 14 70634344 70634344 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:70634344G>A uc001xly.2 - 2 1550 c.796C>T c.(796-798)CGC>TGC p.R266C SLC8A3_uc001xlw.2_Missense_Mutation_p.R266C|SLC8A3_uc001xlx.2_Missense_Mutation_p.R266C|SLC8A3_uc001xlz.2_Missense_Mutation_p.R266C|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 266 Calmodulin-binding (By similarity).|Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TTGTCTGTGCGGTACTTTTTG 0.468 PSEN1 5663 broad.mit.edu 37 14 73637541 73637541 + Missense_Mutation SNP C C T rs140189461 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:73637541C>T uc001xnr.2 + 4 408 c.124C>T c.(124-126)CGG>TGG p.R42W PSEN1_uc001xnv.2_Missense_Mutation_p.R38W|PSEN1_uc010ark.2_Missense_Mutation_p.R38W|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.R42W NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 42 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) CAACGACAGACGGAGCCTTGG 0.478 HEATR4 399671 broad.mit.edu 37 14 73964917 73964917 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:73964917G>A uc010tub.1 - 14 2810 c.2488C>T c.(2488-2490)CGG>TGG p.R830W HEATR4_uc010tua.1_Missense_Mutation_p.R783W NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TCCCTGACCCGGTCCCCTTGA 0.542 BATF 10538 broad.mit.edu 37 14 76012887 76012887 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:76012887C>T uc001xrr.2 + 3 493 c.251C>T c.(250-252)TCG>TTG p.S84L NM_006399 NP_006390 Q16520 BATF_HUMAN basic leucine zipper transcription factor, 84 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.028) TACTTCACGTCGGTGCTGAAC 0.617 STON2 85439 broad.mit.edu 37 14 81744923 81744923 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:81744923T>C uc010tvu.1 - 4 933 c.732A>G c.(730-732)TTA>TTG p.L244L STON2_uc001xvk.1_Silent_p.L244L|STON2_uc010tvt.1_Silent_p.L41L NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 244 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) TGACTGGTGGTAAAGGGCAGC 0.512 ATXN3 4287 broad.mit.edu 37 14 92548751 92548751 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:92548751T>C uc001yac.3 - 8 737 c.668A>G c.(667-669)GAC>GGC p.D223G ATXN3_uc010aug.2_Missense_Mutation_p.D208G|ATXN3_uc001yad.3_Missense_Mutation_p.D168G|ATXN3_uc010auh.2_Missense_Mutation_p.D157G|ATXN3_uc001yae.3_Missense_Mutation_p.D125G|ATXN3_uc010twl.1_RNA NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 223 cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) CTCATCTTCGTCTAACATTCC 0.448 DDX24 57062 broad.mit.edu 37 14 94528520 94528520 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:94528520A>C uc001ycj.2 - 3 1265 c.1166T>G c.(1165-1167)CTT>CGT p.L389R DDX24_uc010twq.1_Missense_Mutation_p.L346R|DDX24_uc010twr.1_Missense_Mutation_p.L139R NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 389 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|skin(1) 4 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) AACCAGTCCAAGCAGAGGACG 0.458 SERPINA11 256394 broad.mit.edu 37 14 94912669 94912669 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:94912669T>C uc001ydd.1 - 3 976 c.916A>G c.(916-918)AGT>GGT p.S306G NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 306 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) GACACTTACCTGGGCAGGAGC 0.562 HSP90AA1 3320 broad.mit.edu 37 14 102568317 102568317 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:102568317G>A uc001ykv.3 - 2 606 c.261C>T c.(259-261)CAC>CAT p.H87H NM_001017963 NP_001017963 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 1 Error:Variant_position_missing_in_P07900_after_alignment axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) ATGCAGAGACGTGGAAGGGCT 0.522 AMN 81693 broad.mit.edu 37 14 103390157 103390157 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:103390157G>A uc001ymg.3 + 2 186 c.153G>A c.(151-153)CCG>CCA p.P51P AMN_uc001ymh.3_5'UTR NM_030943 NP_112205 Q9BXJ7 AMNLS_HUMAN amnionless protein precursor 51 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|multicellular organismal development integral to membrane|plasma membrane 0 Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGAGTTCCCGGCGGACAAGG 0.716 MARK3 4140 broad.mit.edu 37 14 103958244 103958244 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:103958244C>T uc001ymz.3 + 15 2383 c.1717C>T c.(1717-1719)CGA>TGA p.R573* MARK3_uc001ymx.3_Nonsense_Mutation_p.R573*|MARK3_uc001ymw.3_Nonsense_Mutation_p.R573*|MARK3_uc001yna.3_Nonsense_Mutation_p.R557*|MARK3_uc001ymy.3_Nonsense_Mutation_p.R494*|MARK3_uc010awp.2_Nonsense_Mutation_p.R596*|MARK3_uc010tyb.1_Nonsense_Mutation_p.R368*|MARK3_uc010awq.2_Nonsense_Mutation_p.R155* NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 573 ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) CCGGGAACGGCGAACCGCAAC 0.572 TMEM121 80757 broad.mit.edu 37 14 105995256 105995256 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:105995256C>A uc001yrp.1 + 2 236 c.85C>A c.(85-87)CTG>ATG p.L29M ADAM6_uc010tyt.1_Intron|uc001yrr.2_5'Flank NM_025268 NP_079544 Q9BTD3 TM121_HUMAN hole protein 29 Helical; (Potential). integral to membrane 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GGACGCGTACCTGGTGGAGCA 0.632 NDN 4692 broad.mit.edu 37 15 23931631 23931631 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:23931631A>G uc001ywk.2 - 1 820 c.734T>C c.(733-735)CTG>CCG p.L245P NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 245 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CTGGTACTTCAGGTAATTCAT 0.582 Prader-Willi_syndrome HERC2 8924 broad.mit.edu 37 15 28443796 28443796 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:28443796C>T uc001zbj.2 - 49 7942 c.7836G>A c.(7834-7836)CAG>CAA p.Q2612Q HERC2_uc001zbk.1_Silent_p.Q147Q NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2612 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCCCTTTCTGCTGCCAGTCAC 0.453 MTMR15 22909 broad.mit.edu 37 15 31197145 31197145 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:31197145C>A uc001zff.2 + 2 570 c.279C>A c.(277-279)ACC>ACA p.T93T MTMR15_uc001zfc.3_Silent_p.T93T|MTMR15_uc010azw.2_Silent_p.T93T|MTMR15_uc001zfd.3_Silent_p.T93T|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 93 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) CCAGTGTTACCTTAGAAGATG 0.398 Direct_reversal_of_damage|Editing_and_processing_nucleases RYR3 6263 broad.mit.edu 37 15 34130387 34130387 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:34130387T>C uc001zhi.2 + 89 12276 c.12206T>C c.(12205-12207)ATT>ACT p.I4069T RYR3_uc010bar.2_Missense_Mutation_p.I4064T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4069 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CGACAGTTCATTTTTGATGTT 0.463 AQR 9716 broad.mit.edu 37 15 35167043 35167043 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:35167043C>T uc001ziv.2 - 29 3441 c.3260G>A c.(3259-3261)CGA>CAA p.R1087Q NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 1087 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TCGTTTTAGTCGGCTAAATCC 0.393 BUB1B 701 broad.mit.edu 37 15 40488752 40488752 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:40488752A>G uc001zkx.3 + 9 1277 c.1065A>G c.(1063-1065)CCA>CCG p.P355P BUB1B_uc010ucl.1_Silent_p.P218P NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 355 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TTAGGACACCATGTAAAATTG 0.348 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome TYRO3 7301 broad.mit.edu 37 15 41865886 41865886 + Missense_Mutation SNP G G A rs67202013 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:41865886G>A uc001zof.1 + 18 2379 c.2155G>A c.(2155-2157)GGG>AGG p.G719R NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 719 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTGGGCGTTCGGGGTGACCAT 0.572 TYRO3 7301 broad.mit.edu 37 15 41870287 41870287 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:41870287G>A uc001zof.1 + 19 2710 c.2486G>A c.(2485-2487)AGT>AAT p.S829N NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 829 Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) CAGCCCTACAGTGGGGCTGGG 0.642 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42133713 42133713 + Splice_Site SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:42133713A>C uc010bco.2 + 7 537 c.436_splice c.e7-2 p.A146_splice JMJD7-PLA2G4B_uc001zoo.3_Splice_Site_p.A377_splice|JMJD7-PLA2G4B_uc010bcn.2_Splice_Site_p.A377_splice|JMJD7-PLA2G4B_uc001zoq.3_Splice_Site|JMJD7-PLA2G4B_uc001zor.1_5'Flank NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 TTCATGACTCAGGCCCGGGAG 0.612 SPTBN5 51332 broad.mit.edu 37 15 42178429 42178429 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:42178429G>A uc001zos.2 - 7 1252 c.919C>T c.(919-921)CGG>TGG p.R307W NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 342 Spectrin 1. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) AGTAGCTGCCGCATGGCGGGC 0.637 SLC24A5 283652 broad.mit.edu 37 15 48428959 48428959 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:48428959A>G uc001zwe.2 + 6 743 c.670A>G c.(670-672)ATT>GTT p.I224V SLC24A5_uc010bel.2_Missense_Mutation_p.I164V|uc001zwf.1_RNA NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 224 Cytoplasmic (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TAACCAATATATTATAAAGAA 0.388 CEP152 22995 broad.mit.edu 37 15 49044577 49044577 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:49044577G>T uc001zwy.2 - 21 3469 c.3435C>A c.(3433-3435)CCC>CCA p.P1145P CEP152_uc001zwz.2_Silent_p.P1145P|CEP152_uc001zxa.1_Silent_p.P1052P NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1145 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GTAAGGCCAAGGGCTGAGCAT 0.438 CEP152 22995 broad.mit.edu 37 15 49048345 49048345 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:49048345G>A uc001zwy.2 - 20 3134 c.3100C>T c.(3100-3102)CGG>TGG p.R1034W CEP152_uc001zwz.2_Missense_Mutation_p.R1034W|CEP152_uc001zxa.1_Missense_Mutation_p.R941W NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1034 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AGTTGGATCCGCTTGGCTTCC 0.413 CEP152 22995 broad.mit.edu 37 15 49048347 49048347 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:49048347T>C uc001zwy.2 - 20 3132 c.3098A>G c.(3097-3099)AAG>AGG p.K1033R CEP152_uc001zwz.2_Missense_Mutation_p.K1033R|CEP152_uc001zxa.1_Missense_Mutation_p.K940R NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 1033 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TTGGATCCGCTTGGCTTCCTG 0.413 CYP19A1 1588 broad.mit.edu 37 15 51504611 51504611 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:51504611T>C uc001zyz.3 - 10 1420 c.1169A>G c.(1168-1170)AAG>AGG p.K390R CYP19A1_uc001zza.3_Missense_Mutation_p.K390R|CYP19A1_uc001zzb.2_Missense_Mutation_p.K390R NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 390 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) GTTTGTCCCCTTTTTCACTGG 0.413 DMXL2 23312 broad.mit.edu 37 15 51829690 51829690 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:51829690C>G uc002abf.2 - 11 1837 c.1612G>C c.(1612-1614)GTT>CTT p.V538L DMXL2_uc010ufy.1_Missense_Mutation_p.V538L|DMXL2_uc010bfa.2_Missense_Mutation_p.V538L NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 538 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) TATACCTGAACTTGTCTAAAT 0.284 SNX1 6642 broad.mit.edu 37 15 64424090 64424090 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:64424090G>A uc002amv.2 + 11 1256 c.1220G>A c.(1219-1221)CGC>CAC p.R407H SNX1_uc010bgv.2_Missense_Mutation_p.R121H|SNX1_uc010uio.1_Missense_Mutation_p.R407H|SNX1_uc002amw.2_Missense_Mutation_p.R407H|SNX1_uc002amx.2_Missense_Mutation_p.R342H|SNX1_uc002amy.2_Missense_Mutation_p.R336H|SNX1_uc010bgw.2_Missense_Mutation_p.R309H NM_003099 NP_003090 Q13596 SNX1_HUMAN sorting nexin 1 isoform a 407 BAR. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity 0 GCCATAGTCCGCGTAAGCTTC 0.468 TRIP4 9325 broad.mit.edu 37 15 64689965 64689965 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:64689965G>A uc002anm.2 + 4 609 c.566G>A c.(565-567)CGC>CAC p.R189H NM_016213 NP_057297 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 189 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 ATCTGTGGGCGCATTGTCTGT 0.468 IGDCC3 9543 broad.mit.edu 37 15 65623874 65623874 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:65623874G>A uc002aos.2 - 8 1524 c.1272C>T c.(1270-1272)CCC>CCT p.P424P IGDCC3_uc002aor.1_5'Flank NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 424 Extracellular (Potential).|Fibronectin type-III 1. ovary(3) 3 GGGGAGGCCCGGGGAGCCCCT 0.622 SMAD6 4091 broad.mit.edu 37 15 67073679 67073679 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:67073679G>A uc002aqf.2 + 4 2220 c.1297G>A c.(1297-1299)GGC>AGC p.G433S SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.G172S NM_005585 NP_005576 O43541 SMAD6_HUMAN SMAD family member 6 isoform 1 433 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding skin(1) 1 GGTGCCCCCCGGCTACTCCAT 0.726 MYO9A 4649 broad.mit.edu 37 15 72338102 72338102 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:72338102A>G uc002atl.3 - 2 1276 c.803T>C c.(802-804)GTA>GCA p.V268A MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.V268A|MYO9A_uc002atn.1_Missense_Mutation_p.V268A NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 268 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 AATCTGTTCTACTCCACTGGC 0.378 SIN3A 25942 broad.mit.edu 37 15 75705355 75705355 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:75705355A>G uc002bai.2 - 5 764 c.505T>C c.(505-507)TCC>CCC p.S169P SIN3A_uc002baj.2_Missense_Mutation_p.S169P|SIN3A_uc010uml.1_Missense_Mutation_p.S169P NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 169 Interaction with HCFC1.|PAH 1. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 AATAGCTGGGACACACGACTA 0.413 SNX33 257364 broad.mit.edu 37 15 75942332 75942332 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:75942332C>T uc002bau.2 + 1 985 c.889C>T c.(889-891)CGC>TGC p.R297C IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 297 PX. cell communication phosphatidylinositol binding|protein binding ovary(1) 1 GGCCACTGGCCGCTTCGAGGA 0.572 CSPG4 1464 broad.mit.edu 37 15 75979930 75979930 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:75979930C>T uc002baw.2 - 3 3569 c.3476G>A c.(3475-3477)CGC>CAC p.R1159H NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1159 Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 7. angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 ATCCCCACTGCGGATGTCGAG 0.657 CSPG4 1464 broad.mit.edu 37 15 75981580 75981580 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:75981580G>T uc002baw.2 - 3 1919 c.1826C>A c.(1825-1827)CCT>CAT p.P609H NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 609 Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CGGCTCCCCAGGCTGGTCTCG 0.667 AGBL1 123624 broad.mit.edu 37 15 86940602 86940602 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:86940602C>T uc002blz.1 + 17 2322 c.2242C>T c.(2242-2244)CGT>TGT p.R748C NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 748 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TGCAGGACATCGTCCATATCA 0.398 LRRK1 79705 broad.mit.edu 37 15 101562123 101562123 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:101562123C>A uc002bwr.2 + 14 2132 c.1813C>A c.(1813-1815)CTG>ATG p.L605M LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 605 LRR 13. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CACTGAAGACCTGACCATCAG 0.582 LRRK1 79705 broad.mit.edu 37 15 101593607 101593607 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:101593607C>T uc002bwr.2 + 26 4355 c.4036C>T c.(4036-4038)CTG>TTG p.L1346L LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1346 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAACACCGTGCTGTCCGAGAA 0.592 PDIA2 64714 broad.mit.edu 37 16 336905 336905 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:336905C>A uc002cgn.1 + 15 2601 c.1493C>A c.(1492-1494)CCC>CAC p.P498H PDIA2_uc010bqt.1_Missense_Mutation_p.P343H|PDIA2_uc002cgo.1_Missense_Mutation_p.P498H NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 498 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GGCGTGCTGCCCACGGAGGAG 0.617 MSLNL 401827 broad.mit.edu 37 16 824999 824999 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:824999A>G uc002cjz.1 - 7 1573 c.1573T>C c.(1573-1575)TCC>CCC p.S525P NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 174 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 TGCTGGTCGGAGGCGCTGAGT 0.736 MAPK8IP3 23162 broad.mit.edu 37 16 1817604 1817604 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:1817604C>T uc002cmk.2 + 27 3394 c.3274C>T c.(3274-3276)CGG>TGG p.R1092W MAPK8IP3_uc002cml.2_Missense_Mutation_p.R1086W|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.R1093W NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1092 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GAGCCAGGTGCGGCAGCTGGC 0.642 CCNF 899 broad.mit.edu 37 16 2489817 2489817 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:2489817G>T uc002cqd.1 + 8 855 c.767G>T c.(766-768)TGG>TTG p.W256L CCNF_uc002cqe.1_5'UTR NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 256 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) AAAGGCTGCTGGGAAGCGCAG 0.612 PRSS27 83886 broad.mit.edu 37 16 2764172 2764172 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:2764172C>T uc002crf.2 - 4 793 c.402G>A c.(400-402)GTG>GTA p.V134V PRSS27_uc002cre.2_Silent_p.V98V|PRSS27_uc002crg.2_Silent_p.V32V|PRSS27_uc010bst.1_Silent_p.V32V NM_031948 NP_114154 Q9BQR3 PRS27_HUMAN marapsin precursor 134 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 TGGTGAAGGGCACTGGTGCCT 0.647 ZSCAN10 84891 broad.mit.edu 37 16 3139475 3139475 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:3139475G>A uc002ctv.1 - 5 1883 c.1795C>T c.(1795-1797)CGC>TGC p.R599C ZSCAN10_uc002cty.1_Missense_Mutation_p.R260C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R517C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R527C NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 599 C2H2-type 10. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GTGTGGATGCGCTGGTGGCGC 0.716 MEFV 4210 broad.mit.edu 37 16 3306386 3306386 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:3306386G>A uc002cun.1 - 1 242 c.202C>T c.(202-204)CAG>TAG p.Q68* NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 68 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) AGGGTGAGCTGCACGGCGTAC 0.657 NLRC3 197358 broad.mit.edu 37 16 3614549 3614549 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:3614549G>T uc010btn.2 - 5 800 c.389C>A c.(388-390)CCT>CAT p.P130H NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 130 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CCGGGAGAGAGGCAGGAAGAG 0.701 USP7 7874 broad.mit.edu 37 16 8995029 8995029 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:8995029G>A uc002czl.2 - 19 2309 c.2110C>T c.(2110-2112)CAT>TAT p.H704Y USP7_uc010uyk.1_Missense_Mutation_p.H605Y|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.H605Y|USP7_uc002czk.2_Missense_Mutation_p.H688Y NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 704 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 GTGTAGATATGCCCACAGTAA 0.343 GRIN2A 2903 broad.mit.edu 37 16 10031878 10031878 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:10031878C>A uc002czo.3 - 3 1493 c.945G>T c.(943-945)GAG>GAT p.E315D GRIN2A_uc010uym.1_Missense_Mutation_p.E315D|GRIN2A_uc010uyn.1_Missense_Mutation_p.E158D|GRIN2A_uc002czr.3_Missense_Mutation_p.E315D NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 315 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGCCTTGGCCTCGGGGATGT 0.577 ERCC4 2072 broad.mit.edu 37 16 14041518 14041518 + Missense_Mutation SNP C C T rs149364215 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:14041518C>T uc002dce.2 + 11 2074 c.2065C>T c.(2065-2067)CGT>TGT p.R689C ERCC4_uc010uyz.1_Missense_Mutation_p.R239C NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 689 ERCC4.|Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 TGTGGATATGCGTGAATTTCG 0.443 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum COQ7 10229 broad.mit.edu 37 16 19083251 19083251 + Silent SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:19083251T>G uc002dfr.2 + 2 135 c.75T>G c.(73-75)GCT>GCG p.A25A COQ7_uc002dfs.2_Silent_p.A11A NM_016138 NP_057222 Q99807 COQ7_HUMAN COQ7 protein 25 ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding skin(1) 1 GCATTTCAGCTTATGGAAGAA 0.403 OREG0023656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMC5 79838 broad.mit.edu 37 16 19485561 19485561 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:19485561G>A uc002dgc.3 + 12 2802 c.2053G>A c.(2053-2055)GAG>AAG p.E685K TMC5_uc010vaq.1_Missense_Mutation_p.E633K|TMC5_uc002dgb.3_Missense_Mutation_p.E685K|TMC5_uc010var.1_Missense_Mutation_p.E685K|TMC5_uc002dgd.1_Missense_Mutation_p.E439K|TMC5_uc002dge.3_Missense_Mutation_p.E439K|TMC5_uc002dgf.3_Missense_Mutation_p.E368K|TMC5_uc002dgg.3_Missense_Mutation_p.E326K NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 685 Cytoplasmic (Potential). integral to membrane skin(1) 1 GGAGAGGTACGAGATGCCACG 0.552 EEF2K 29904 broad.mit.edu 37 16 22268599 22268599 + Missense_Mutation SNP G G A rs143471765 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:22268599G>A uc002dki.2 + 8 1279 c.794G>A c.(793-795)CGT>CAT p.R265H EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 265 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) ACTTTTGAGCGTTCCGGCCAT 0.577 EEF2K 29904 broad.mit.edu 37 16 22291646 22291646 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:22291646G>A uc002dki.2 + 17 2502 c.2017G>A c.(2017-2019)GAG>AAG p.E673K EEF2K_uc002dkh.2_RNA NM_013302 NP_037434 O00418 EF2K_HUMAN elongation factor-2 kinase 673 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding large_intestine(1) 1 GBM - Glioblastoma multiforme(48;0.0223) CAGGGAGGCCGAGATGCTGTT 0.637 HSD3B7 80270 broad.mit.edu 37 16 30999155 30999155 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:30999155G>A uc002eaf.2 + 7 867 c.761G>A c.(760-762)GGC>GAC p.G254D HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.G254D NM_025193 NP_079469 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- 254 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity 0 CTGATGGGCGGCCAGGTATAC 0.652 ZNF668 79759 broad.mit.edu 37 16 31075373 31075373 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:31075373G>A uc010caf.2 - 2 765 c.408C>T c.(406-408)GGC>GGT p.G136G ZNF668_uc002eao.2_Silent_p.G136G|ZNF668_uc010cag.1_Silent_p.G136G NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 AGGGCAGTTCGCCAGCGTGCG 0.701 HEATR3 55027 broad.mit.edu 37 16 50112651 50112651 + Splice_Site SNP G G C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:50112651G>C uc002efw.2 + 7 926 c.764_splice c.e7-1 p.G255_splice HEATR3_uc002efx.2_Splice_Site_p.G169_splice NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 binding ovary(1)|skin(1) 2 TTTTTTCCCAGGCACAATTTG 0.343 RPGRIP1L 23322 broad.mit.edu 37 16 53675003 53675003 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:53675003C>T uc002ehp.2 - 19 2964 c.2900G>A c.(2899-2901)CGT>CAT p.R967H RPGRIP1L_uc002eho.3_Missense_Mutation_p.R967H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R967H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R967H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R967H NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 967 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) AGGTGTTAAACGTTGTCTTGG 0.353 CCDC135 84229 broad.mit.edu 37 16 57760089 57760089 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:57760089G>A uc002emi.2 + 13 1957 c.1868G>A c.(1867-1869)CGT>CAT p.R623H CCDC135_uc002emj.2_Missense_Mutation_p.R623H|CCDC135_uc002emk.2_Missense_Mutation_p.R558H NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 623 cytoplasm central_nervous_system(1) 1 TACCACTGCCGTGAGGACCAC 0.642 CNGB1 1258 broad.mit.edu 37 16 57931726 57931726 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:57931726T>G uc002emt.2 - 30 3134 c.3069A>C c.(3067-3069)AAA>AAC p.K1023N CNGB1_uc010cdh.2_Missense_Mutation_p.K1017N NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 1023 Cytoplasmic (Potential).|cAMP (By similarity). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 CAGATCCAGCTTTCAGCGTCA 0.592 PRSS54 221191 broad.mit.edu 37 16 58314157 58314157 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:58314157C>T uc002enf.2 - 7 1554 c.1159G>A c.(1159-1161)GTG>ATG p.V387M PRSS54_uc002eng.2_Missense_Mutation_p.V387M|PRSS54_uc010vie.1_Missense_Mutation_p.V288M|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 387 proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 AAAACAAGCACGAAGGAAACC 0.463 CDH8 1006 broad.mit.edu 37 16 61747823 61747823 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:61747823T>G uc002eog.1 - 10 1828 c.1576A>C c.(1576-1578)AAA>CAA p.K526Q NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 526 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGTCCGTTTTTGGGATCATCT 0.378 TK2 7084 broad.mit.edu 37 16 66551046 66551046 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:66551046A>G uc002eos.2 - 8 962 c.737T>C c.(736-738)ATT>ACT p.I246T TK2_uc010vip.1_Missense_Mutation_p.I107T|TK2_uc002eor.2_Missense_Mutation_p.I173T|TK2_uc010cdq.2_Intron|TK2_uc010cdr.2_Missense_Mutation_p.I155T|TK2_uc010viq.1_Missense_Mutation_p.I228T|TK2_uc010vir.1_Missense_Mutation_p.I221T NM_004614 NP_004605 O00142 KITM_HUMAN thymidine kinase 2, mitochondrial 204 pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) TACCAGCGGAATGACCTTCTC 0.502 OREG0032067 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) CMTM1 113540 broad.mit.edu 37 16 66612846 66612846 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:66612846C>T uc002epi.3 + 4 575 c.452C>T c.(451-453)TCC>TTC p.S151F CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_RNA|CMTM1_uc002epe.3_RNA|CMTM1_uc002epf.3_RNA|CMTM1_uc002epg.3_RNA|CMTM1_uc002eph.3_3'UTR|CMTM1_uc002epl.3_Missense_Mutation_p.S104F|CMTM1_uc002epj.3_3'UTR|CMTM1_uc002epk.3_Missense_Mutation_p.S98F|CMTM1_uc002epa.3_3'UTR|CMTM1_uc002epn.3_3'UTR|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Missense_Mutation_p.S268F|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA|CMTM2_uc002ept.2_5'Flank|CMTM2_uc010cdu.2_5'Flank NM_181269 NP_851786 Q8IZ96 CKLF1_HUMAN chemokine-like factor superfamily 1 isoform 1 151 chemotaxis extracellular space|integral to membrane cytokine activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) AGGAAGCTTTCCCCCGCCAAG 0.597 FAM65A 79567 broad.mit.edu 37 16 67576836 67576836 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:67576836A>G uc010vjp.1 + 13 2303 c.2207A>G c.(2206-2208)CAG>CGG p.Q736R FAM65A_uc010cei.1_Missense_Mutation_p.Q558R|FAM65A_uc002eth.2_Missense_Mutation_p.Q716R|FAM65A_uc010cej.2_Missense_Mutation_p.Q719R|FAM65A_uc002eti.1_Missense_Mutation_p.Q679R|FAM65A_uc010vjq.1_Missense_Mutation_p.Q730R|FAM65A_uc002etj.1_Missense_Mutation_p.Q715R|FAM65A_uc002etk.2_Missense_Mutation_p.Q715R NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 720 Pro-rich. cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) TCCTACACTCAGGCAGACCCT 0.597 SMPD3 55512 broad.mit.edu 37 16 68406042 68406042 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:68406042C>T uc002ewa.2 - 3 465 c.43G>A c.(43-45)GCC>ACC p.A15T SMPD3_uc010cfe.2_Missense_Mutation_p.A15T|SMPD3_uc010vlh.1_Missense_Mutation_p.A15T NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 15 Helical; (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CAGTGCAGGGCGGACAGACAG 0.627 ZFP90 146198 broad.mit.edu 37 16 68597623 68597623 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:68597623G>A uc010cff.2 + 5 1225 c.933G>A c.(931-933)CAG>CAA p.Q311Q ZFP90_uc002ewb.2_Missense_Mutation_p.S117N|ZFP90_uc002ewc.2_Missense_Mutation_p.S117N|ZFP90_uc002ewd.2_Silent_p.Q311Q|ZFP90_uc002ewe.2_Silent_p.Q311Q NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 311 C2H2-type 4. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AACCCTATCAGTGTAGTCTCT 0.488 ZFP90 146198 broad.mit.edu 37 16 68598358 68598358 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:68598358T>C uc010cff.2 + 5 1960 c.1668T>C c.(1666-1668)ATT>ATC p.I556I ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Silent_p.I556I|ZFP90_uc002ewe.2_Silent_p.I556I NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 556 C2H2-type 11. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) ATGAATGTATTGACTGTGGGA 0.438 PDPR 55066 broad.mit.edu 37 16 70166194 70166194 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:70166194G>A uc002eyf.1 + 9 1945 c.988G>A c.(988-990)GAT>AAT p.D330N CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.D230N|PDPR_uc002eyg.1_Missense_Mutation_p.D58N NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 330 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) GGAAGACTGGGATCACTTTGG 0.398 PKD1L2 114780 broad.mit.edu 37 16 81242146 81242146 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:81242146A>G uc002fgh.1 - 4 710 c.710T>C c.(709-711)CTG>CCG p.L237P PKD1L2_uc002fgj.2_Missense_Mutation_p.L237P NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 237 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGTCGGACACAGGTTTCCAAA 0.562 CDT1 81620 broad.mit.edu 37 16 88871856 88871856 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:88871856A>C uc002flu.2 + 4 551 c.497A>C c.(496-498)AAG>ACG p.K166T NM_030928 NP_112190 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 166 Interaction with GMNN. DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) AGTGGCGAGAAGGCGCCCGCC 0.687 ANKRD11 29123 broad.mit.edu 37 16 89345552 89345552 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:89345552G>A uc002fmx.1 - 9 7859 c.7398C>T c.(7396-7398)TAC>TAT p.Y2466Y ANKRD11_uc002fmy.1_Silent_p.Y2466Y|ANKRD11_uc002fnc.1_Silent_p.Y2466Y|ANKRD11_uc002fna.1_Silent_p.Y131Y|ANKRD11_uc002fnb.1_Silent_p.Y2423Y NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2466 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CGTACTCGGCGTAGCACTGGG 0.627 SPG7 6687 broad.mit.edu 37 16 89592862 89592862 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:89592862A>G uc002fnj.2 + 5 765 c.744A>G c.(742-744)ACA>ACG p.T248T SPG7_uc002fni.2_Silent_p.T248T NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 248 Mitochondrial intermembrane (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) ACAAGCGAACAGGATTCTTTG 0.393 MYO1C 4641 broad.mit.edu 37 17 1371157 1371157 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:1371157G>A uc002fsp.2 - 29 3164 c.2944C>T c.(2944-2946)CAG>TAG p.Q982* MYO1C_uc002fsn.2_Nonsense_Mutation_p.Q963*|MYO1C_uc002fso.2_Nonsense_Mutation_p.Q947*|MYO1C_uc010vqj.1_Nonsense_Mutation_p.Q947* NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 982 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCCGCACGCTGTACATGAAGC 0.428 CAMKK1 84254 broad.mit.edu 37 17 3786411 3786411 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:3786411C>T uc002fwt.2 - 6 667 c.573G>A c.(571-573)CTG>CTA p.L191L CAMKK1_uc002fwu.2_Silent_p.L191L|CAMKK1_uc002fwv.2_Silent_p.L191L NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 191 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) GCTCCAGGGGCAGCAGCTGCT 0.617 ZZEF1 23140 broad.mit.edu 37 17 3936194 3936194 + Nonsense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:3936194G>T uc002fxe.2 - 41 6751 c.6687C>A c.(6685-6687)TGC>TGA p.C2229* ZZEF1_uc002fxh.2_Nonsense_Mutation_p.C543*|ZZEF1_uc002fxi.2_Nonsense_Mutation_p.C464* NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2229 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCTGCTTGATGCAGTGGTCTG 0.597 ZZEF1 23140 broad.mit.edu 37 17 3974039 3974039 + Silent SNP G G A rs115914263 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:3974039G>A uc002fxe.2 - 26 4078 c.4014C>T c.(4012-4014)AAC>AAT p.N1338N ZZEF1_uc002fxj.1_Translation_Start_Site NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1338 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAAAGGTGGCGTTCACAGCTT 0.403 ENO3 2027 broad.mit.edu 37 17 4856098 4856098 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:4856098C>T uc002gab.3 + 3 188 c.94C>T c.(94-96)CGA>TGA p.R32* ENO3_uc010vsr.1_5'UTR|ENO3_uc002gac.3_Nonsense_Mutation_p.R32*|ENO3_uc010vss.1_Nonsense_Mutation_p.R32*|ENO3_uc010vst.1_5'Flank NM_053013 NP_443739 P13929 ENOB_HUMAN enolase 3 32 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity ovary(1) 1 AGGCCGATTCCGAGCAGCTGT 0.408 SLC13A5 284111 broad.mit.edu 37 17 6606329 6606329 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:6606329C>G uc002gdj.2 - 5 764 c.676G>C c.(676-678)GGG>CGG p.G226R SLC13A5_uc010vtf.1_Missense_Mutation_p.G226R|SLC13A5_uc010clq.2_Missense_Mutation_p.G183R|SLC13A5_uc002gdk.2_Missense_Mutation_p.G209R|SLC13A5_uc002gdl.1_Missense_Mutation_p.G208R NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 226 Helical; (Potential). integral to membrane citrate transmembrane transporter activity 0 GGTCCCGTCCCGGTCAGGGTG 0.642 KDM6B 23135 broad.mit.edu 37 17 7752943 7752943 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:7752943G>A uc002giw.1 + 11 3713 c.3337G>A c.(3337-3339)GGT>AGT p.G1113S KDM6B_uc002gix.2_Missense_Mutation_p.G415S NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1113 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 GGTAGAGAGTGGTGACAAGGA 0.632 USP43 124739 broad.mit.edu 37 17 9631908 9631908 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:9631908C>A uc010cod.2 + 15 2973 c.2973C>A c.(2971-2973)CCC>CCA p.P991P USP43_uc002gma.3_Silent_p.P680P|USP43_uc010vva.1_Silent_p.P986P|USP43_uc010coe.2_Silent_p.P788P|USP43_uc002gmc.3_Silent_p.P503P NM_153210 NP_694942 Q70EL4 UBP43_HUMAN ubiquitin specific protease 43 991 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TAGACAGACCCCTGCAGGGGA 0.587 MYH8 4626 broad.mit.edu 37 17 10315825 10315825 + Silent SNP C C T rs113680036 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:10315825C>T uc002gmm.2 - 14 1373 c.1278G>A c.(1276-1278)GCG>GCA p.A426A uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 426 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GAGCACCCACCGCATTGTACA 0.493 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling DNAH9 1770 broad.mit.edu 37 17 11757384 11757384 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:11757384C>T uc002gne.2 + 50 9640 c.9572C>T c.(9571-9573)GCG>GTG p.A3191V DNAH9_uc010coo.2_Missense_Mutation_p.A2485V NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3191 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTCAGCGCTGCGGTGATGGTA 0.582 FLCN 201163 broad.mit.edu 37 17 17117130 17117130 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:17117130G>A uc002gra.3 - 14 2083 c.1579C>T c.(1579-1581)CGA>TGA p.R527* PLD6_uc010cpn.2_Intron NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 527 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 TCTTTGGGTCGACTGTCCACC 0.512 Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer SREBF1 6720 broad.mit.edu 37 17 17720700 17720700 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:17720700C>T uc002gru.1 - 8 1670 c.1476G>A c.(1474-1476)ACG>ACA p.T492T SREBF1_uc002grp.1_Silent_p.T111T|SREBF1_uc002grq.1_Silent_p.T11T|SREBF1_uc002grr.1_Silent_p.T238T|SREBF1_uc002grs.1_Silent_p.T468T|SREBF1_uc002grt.1_Silent_p.T522T NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 492 Helical; (Potential).|Interaction with LMNA (By similarity). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 GGAAGACGAGCGTGCACAGGG 0.692 TOM1L2 146691 broad.mit.edu 37 17 17766052 17766052 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:17766052G>A uc002grz.3 - 11 1352 c.1195C>T c.(1195-1197)CGC>TGC p.R399C TOM1L2_uc002gry.3_Missense_Mutation_p.R349C|TOM1L2_uc010vwy.1_Missense_Mutation_p.R346C|TOM1L2_uc010cpr.2_Missense_Mutation_p.R354C|TOM1L2_uc010vwz.1_Missense_Mutation_p.R251C|TOM1L2_uc010vxa.1_Missense_Mutation_p.R301C|TOM1L2_uc002grv.3_Missense_Mutation_p.R132C NM_001082968 NP_001076437 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 isoform 3 399 intracellular protein transport intracellular 0 all_neural(463;0.228) TACGTCTTGCGCTGCTCAGCC 0.527 MYO15A 51168 broad.mit.edu 37 17 18023410 18023410 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:18023410C>T uc010vxh.1 + 2 1634 c.1296C>T c.(1294-1296)ATC>ATT p.I432I NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 432 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TGGATGACATCGCCGAGCTGG 0.642 MYO15A 51168 broad.mit.edu 37 17 18039027 18039027 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:18039027G>A uc010vxh.1 + 12 4823 c.4485G>A c.(4483-4485)ACG>ACA p.T1495T NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1495 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) TTGCATAGACGGATGCACAGG 0.438 LLGL1 3996 broad.mit.edu 37 17 18140176 18140176 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:18140176G>A uc002gsp.2 + 13 1595 c.1534G>A c.(1534-1536)GAT>AAT p.D512N NM_004140 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 512 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1) 6 all_neural(463;0.228) CTACAGTGACGATCCCCGGCT 0.632 MAP2K3 5606 broad.mit.edu 37 17 21215543 21215543 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:21215543G>A uc002gys.2 + 10 1129 c.864G>A c.(862-864)CAG>CAA p.Q288Q MAP2K3_uc002gyt.2_Silent_p.Q259Q|MAP2K3_uc002gyu.2_Silent_p.Q259Q NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 288 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CGTCCCCCCAGCTCCCAGCCG 0.652 NOS2 4843 broad.mit.edu 37 17 26116642 26116642 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:26116642C>T uc002gzu.2 - 3 447 c.183G>A c.(181-183)GTG>GTA p.V61V NOS2_uc010crh.1_Silent_p.V61V|NOS2_uc010wab.1_Silent_p.V61V NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 61 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TTCCCGTCTCCACGAGGGGCT 0.557 CRYBA1 1411 broad.mit.edu 37 17 27580761 27580761 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:27580761T>C uc002hdw.2 + 5 468 c.461T>C c.(460-462)TTC>TCC p.F154S NM_005208 NP_005199 P05813 CRBA1_HUMAN crystallin, beta A3 154 Beta/gamma crystallin 'Greek key' 3. visual perception soluble fraction structural constituent of eye lens 0 BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) ATGGGCTGGTTCAACAACGAA 0.453 ANKRD13B 124930 broad.mit.edu 37 17 27936411 27936411 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:27936411C>T uc002hei.2 + 7 907 c.794C>T c.(793-795)ACG>ATG p.T265M ANKRD13B_uc002heh.2_Missense_Mutation_p.T133M|ANKRD13B_uc002hej.2_RNA NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 265 0 AGTGAAAAGACGGAGATGGTG 0.602 ATAD5 79915 broad.mit.edu 37 17 29161234 29161234 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:29161234A>G uc002hfs.1 + 2 481 c.135A>G c.(133-135)CCA>CCG p.P45P ATAD5_uc002hft.1_5'UTR NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 45 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ATTTATCACCACTAGGGAAGA 0.353 ADAP2 55803 broad.mit.edu 37 17 29281495 29281495 + Splice_Site SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:29281495G>A uc002hfx.2 + 9 1084 c.805_splice c.e9-1 p.Q269_splice ADAP2_uc010csk.2_Splice_Site_p.Q275_splice|ADAP2_uc002hfy.2_Intron|ADAP2_uc010csl.2_Splice_Site NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN centaurin-alpha 2 protein heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) ovary(1) 1 CTCTTTTGCAGCAGAAAGAAC 0.537 PSMD11 5717 broad.mit.edu 37 17 30796051 30796051 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:30796051C>T uc010cta.1 + 6 523 c.483C>T c.(481-483)GAC>GAT p.D161D PSMD11_uc010wbz.1_Silent_p.D161D|PSMD11_uc002hhm.2_Silent_p.D161D NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 161 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) AAAAGATGGACGACAAAGCTC 0.448 CCL7 6354 broad.mit.edu 37 17 32597332 32597332 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:32597332T>G uc002hhz.2 + 1 93 c.23T>G c.(22-24)CTG>CGG p.L8R CCL7_uc010ctf.2_RNA NM_006273 NP_006264 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 precursor 8 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding ovary(1) 1 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) GCAGCACTTCTGTGTCTGCTG 0.572 SLFN12 55106 broad.mit.edu 37 17 33749721 33749721 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:33749721T>C uc002hji.3 - 2 704 c.327A>G c.(325-327)TCA>TCG p.S109S SLFN12_uc002hjj.3_Silent_p.S109S|SLFN12_uc010cts.2_Silent_p.S109S NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 109 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCAAGCTCCATGACTTCACAA 0.383 MMP28 79148 broad.mit.edu 37 17 34106027 34106027 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:34106027T>C uc002hjy.1 - 3 503 c.244A>G c.(244-246)ACC>GCC p.T82A MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.T82A NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 82 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGGCGCAGGGTGGCGCGGTCC 0.607 C17orf66 256957 broad.mit.edu 37 17 34192249 34192249 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:34192249T>A uc002hke.1 - 3 439 c.290A>T c.(289-291)AAG>ATG p.K97M C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.K97M|C17orf66_uc010wcm.1_Missense_Mutation_p.K63M NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 97 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CCTCAACATCTTCTCAGCCTC 0.488 MYO19 80179 broad.mit.edu 37 17 34856703 34856703 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:34856703G>A uc010wcy.1 - 24 3336 c.2344C>T c.(2344-2346)CGG>TGG p.R782W MYO19_uc002hmw.2_Missense_Mutation_p.R582W|MYO19_uc010cuu.2_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 782 mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CGCCACTGCCGCTCCTGCTCT 0.642 GGNBP2 79893 broad.mit.edu 37 17 34913105 34913105 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:34913105G>T uc002hnb.2 + 4 606 c.357G>T c.(355-357)AAG>AAT p.K119N GGNBP2_uc002hna.2_Missense_Mutation_p.K119N NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 119 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TAGGGCCCAAGGGAGTCCTGT 0.443 RARA 5914 broad.mit.edu 37 17 38510653 38510653 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:38510653G>A uc002huk.1 + 7 1362 c.907G>A c.(907-909)GGC>AGC p.G303S RARA_uc002hul.3_Missense_Mutation_p.G303S|RARA_uc010wfe.1_Missense_Mutation_p.G206S|RARA_uc002hun.1_Missense_Mutation_p.G298S NM_000964 NP_000955 P10276 RARA_HUMAN retinoic acid receptor, alpha isoform 1 303 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) CGCTGGCTTCGGCCCCCTCAC 0.647 T PML|ZNF145|TIF1|NUMA1|NPM1 APL KRT222 125113 broad.mit.edu 37 17 38818172 38818172 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:38818172G>A uc002hvc.2 - 2 286 c.221C>T c.(220-222)GCT>GTT p.A74V KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Missense_Mutation_p.A34V|KRT222_uc010cxc.2_Missense_Mutation_p.A34V NM_152349 NP_689562 Q8N1A0 KT222_HUMAN truncated type I keratin KA21 74 Potential. intermediate filament structural molecule activity central_nervous_system(1)|skin(1) 2 TCTCACCACAGCATGGAGAGA 0.458 HDAC5 10014 broad.mit.edu 37 17 42162480 42162480 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:42162480G>A uc002ifd.1 - 15 2305 c.2094C>T c.(2092-2094)TGC>TGT p.C698C HDAC5_uc002ife.1_Silent_p.C698C|HDAC5_uc002iff.1_Silent_p.C699C|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Silent_p.C8C|HDAC5_uc002ifh.2_Silent_p.C698C NM_005474 NP_005465 Q9UQL6 HDAC5_HUMAN histone deacetylase 5 isoform 1 698 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding ovary(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) GTGTGTTCCCGCACATGCACT 0.612 GRN 2896 broad.mit.edu 37 17 42426635 42426635 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:42426635G>A uc002igp.1 + 2 322 c.103G>A c.(103-105)GGA>AGA p.G35R GRN_uc002igq.1_Missense_Mutation_p.G35R|GRN_uc002igr.1_5'Flank NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 35 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCTGGACCCCGGAGGAGCCAG 0.637 KIAA1267 284058 broad.mit.edu 37 17 44249126 44249126 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:44249126C>T uc002ikb.2 - 1 469 c.384G>A c.(382-384)CAG>CAA p.Q128Q KIAA1267_uc002ikc.2_Silent_p.Q128Q|KIAA1267_uc002ikd.2_Silent_p.Q128Q|KIAA1267_uc010dav.2_Silent_p.Q128Q NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 128 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) CCAAAACTGGCTGTCTCCCCA 0.453 HEATR6 63897 broad.mit.edu 37 17 58132907 58132907 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:58132907G>A uc002iyk.1 - 14 2275 c.2258C>T c.(2257-2259)GCA>GTA p.A753V HEATR6_uc010ddk.1_Missense_Mutation_p.A292V|HEATR6_uc010wos.1_Intron NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 753 A -> T (in Ref. 5; AAL83912). binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) ATCAGGTGCTGCAGTGGAGTC 0.393 TLK2 11011 broad.mit.edu 37 17 60598172 60598172 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:60598172C>T uc010ddp.2 + 3 388 c.120C>T c.(118-120)TGC>TGT p.C40C TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Silent_p.C40C|TLK2_uc002jaa.3_Silent_p.C40C|TLK2_uc010wpd.1_Silent_p.C40C NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 40 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 AGAGCTTGTGCAGCGTCGGAT 0.323 AMZ2 51321 broad.mit.edu 37 17 66246991 66246991 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:66246991T>G uc002jgs.1 + 4 457 c.340T>G c.(340-342)TAC>GAC p.Y114D AMZ2_uc002jgr.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgt.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgu.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgv.1_Missense_Mutation_p.Y114D|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Missense_Mutation_p.Y114D NM_001033572 NP_001028744 Q86W34 AMZ2_HUMAN archaemetzincins-2 isoform 1 114 metallopeptidase activity|zinc ion binding 0 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) GCTCACGGGCTACTGTAAAGC 0.353 SOX9 6662 broad.mit.edu 37 17 70120097 70120097 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:70120097C>A uc002jiw.2 + 3 1471 c.1099C>A c.(1099-1101)CCA>ACA p.P367T NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 367 Gln/Pro-rich. cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) ggcggcgcccccacagcagcc 0.269 SLC39A11 201266 broad.mit.edu 37 17 70645098 70645098 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:70645098T>C uc002jjb.2 - 9 909 c.794A>G c.(793-795)TAT>TGT p.Y265C SLC39A11_uc002jja.2_Missense_Mutation_p.Y258C NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 isoform 1 265 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1) 1 CAGCTGCCCATACCTAAGGAG 0.612 C17orf80 55028 broad.mit.edu 37 17 71238436 71238436 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:71238436G>A uc002jjm.3 + 4 1761 c.1567G>A c.(1567-1569)GGA>AGA p.G523R C17orf80_uc010wqu.1_Intron|C17orf80_uc010dfj.2_Intron|C17orf80_uc002jjk.1_Missense_Mutation_p.G523R|C17orf80_uc002jjl.3_Intron NM_017941 NP_060411 Q9BSJ5 CQ080_HUMAN lung cancer-related protein 8 isoform a 523 Extracellular (Potential). integral to membrane skin(1) 1 LUSC - Lung squamous cell carcinoma(166;0.197) ACCCCCTGCCGGACTTACAAC 0.463 GRIN2C 2905 broad.mit.edu 37 17 72846719 72846719 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:72846719C>T uc002jlt.1 - 5 1457 c.1301G>A c.(1300-1302)CGC>CAC p.R434H GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.R434H|GRIN2C_uc002jlv.1_3'UTR NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 434 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GCTCTGCCTGCGGCAGGGCAC 0.647 C17orf28 283987 broad.mit.edu 37 17 72956269 72956269 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:72956269T>C uc002jmj.3 - 7 952 c.803A>G c.(802-804)TAC>TGC p.Y268C C17orf28_uc010wrs.1_Missense_Mutation_p.Y67C|C17orf28_uc002jmk.2_Missense_Mutation_p.Y267C NM_030630 NP_085133 Q8IV36 CQ028_HUMAN hypothetical protein LOC283987 268 integral to membrane|plasma membrane protein binding 0 all_lung(278;0.151)|Lung NSC(278;0.185) CAGGTGGTTGTAGGGGATCCC 0.617 NUP85 79902 broad.mit.edu 37 17 73231232 73231232 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:73231232G>A uc002jng.1 + 18 2065 c.1805G>A c.(1804-1806)CGG>CAG p.R602Q NUP85_uc010dgd.1_Missense_Mutation_p.R557Q|NUP85_uc010wrv.1_Missense_Mutation_p.R556Q|NUP85_uc002jnh.1_Missense_Mutation_p.R205Q NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 602 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) GAGTTGATGCGGTGTCTGGAG 0.532 MIF4GD 57409 broad.mit.edu 37 17 73263620 73263620 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:73263620T>A uc002jnr.2 - 5 569 c.440A>T c.(439-441)GAG>GTG p.E147V MIF4GD_uc002jno.2_Missense_Mutation_p.E188V|MIF4GD_uc002jnp.2_Missense_Mutation_p.E181V|MIF4GD_uc002jnq.2_Missense_Mutation_p.E188V A9UHW6 MI4GD_HUMAN RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1; Short=hSLIP1; 147 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding ovary(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) GCCACCCACCTCCTCCTCCTT 0.612 LLGL2 3993 broad.mit.edu 37 17 73560538 73560538 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:73560538C>A uc002joh.2 + 10 1140 c.986C>A c.(985-987)ACC>AAC p.T329N LLGL2_uc002jog.1_Missense_Mutation_p.T329N|LLGL2_uc010dgf.1_Missense_Mutation_p.T329N|LLGL2_uc002joi.2_Missense_Mutation_p.T329N|LLGL2_uc010dgg.1_Missense_Mutation_p.T329N|LLGL2_uc002joj.2_Missense_Mutation_p.T318N|LLGL2_uc010wsd.1_Missense_Mutation_p.P10T|uc002jok.2_5'Flank NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 329 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TTCGACTTCACCTCCCGTGTC 0.632 FBF1 85302 broad.mit.edu 37 17 73917331 73917331 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:73917331G>A uc002jqc.2 - 16 1897 c.1623C>T c.(1621-1623)CCC>CCT p.P541P FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.P532P|FBF1_uc002jqd.1_Silent_p.P542P|FBF1_uc002jqb.2_5'Flank|FBF1_uc010dgr.1_5'UTR NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 541 0 CTACCTGGACGGGCACGGAAG 0.592 TBC1D16 125058 broad.mit.edu 37 17 77923563 77923563 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:77923563C>T uc002jxj.2 - 7 1475 c.1359G>A c.(1357-1359)GCG>GCA p.A453A TBC1D16_uc002jxh.2_Silent_p.A91A|TBC1D16_uc002jxi.2_Silent_p.A78A|TBC1D16_uc002jxk.1_Silent_p.A91A NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 453 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) GCAGCCGCAGCGCCTCCCGCT 0.627 GAA 2548 broad.mit.edu 37 17 78091485 78091485 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:78091485G>A uc002jxo.2 + 18 2600 c.2418G>A c.(2416-2418)ACG>ACA p.T806T GAA_uc002jxp.2_Silent_p.T806T|GAA_uc002jxq.2_Silent_p.T806T NM_001079803 NP_001073271 P10253 LYAG_HUMAN acid alpha-glucosidase preproprotein 806 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) AGTGGGTGACGCTGCCGGCCC 0.682 RNF213 57674 broad.mit.edu 37 17 78318484 78318484 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:78318484C>T uc002jyh.1 + 4 791 c.568C>T c.(568-570)CGT>TGT p.R190C NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCAGCGTACACGTGTACCCCA 0.448 RPTOR 57521 broad.mit.edu 37 17 78727978 78727978 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:78727978C>A uc002jyt.1 + 6 1628 c.823C>A c.(823-825)CTG>ATG p.L275M RPTOR_uc002jys.2_Missense_Mutation_p.L275M|RPTOR_uc010wuf.1_Missense_Mutation_p.L90M|RPTOR_uc010wug.1_Missense_Mutation_p.L275M NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 275 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CAAGATCGCCCTGCGCTGGTG 0.682 RPTOR 57521 broad.mit.edu 37 17 78897301 78897301 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:78897301C>T uc002jyt.1 + 23 3441 c.2636C>T c.(2635-2637)CCG>CTG p.P879L RPTOR_uc010wug.1_Missense_Mutation_p.P721L NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 879 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 GGCTCCCCTCCGGCGTCCAGC 0.632 BAIAP2 10458 broad.mit.edu 37 17 79077412 79077412 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:79077412C>T uc002jzg.2 + 8 861 c.753C>T c.(751-753)GGC>GGT p.G251G BAIAP2_uc002jyz.3_Silent_p.G251G|BAIAP2_uc002jza.2_Silent_p.G251G|BAIAP2_uc002jzc.2_Silent_p.G251G|BAIAP2_uc002jzb.2_Silent_p.G8G|BAIAP2_uc002jzd.2_Silent_p.G251G|BAIAP2_uc002jzf.2_Silent_p.G251G|BAIAP2_uc002jze.2_Silent_p.G284G|BAIAP2_uc010wuh.1_Silent_p.G173G|BAIAP2_uc002jzh.2_Silent_p.G252G|BAIAP2_uc010wui.1_Silent_p.G114G NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 251 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CCAGCAACGGCGCCACCCTCC 0.706 C17orf70 80233 broad.mit.edu 37 17 79508363 79508363 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:79508363T>C uc002kaq.2 - 8 2541 c.2486A>G c.(2485-2487)TAC>TGC p.Y829C C17orf70_uc002kao.1_Missense_Mutation_p.Y478C|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.Y678C NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 829 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CTGGCGGAGGTACTGCACACG 0.682 CCDC57 284001 broad.mit.edu 37 17 80141780 80141780 + Missense_Mutation SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:80141780A>T uc002kdz.1 - 9 1436 c.1081T>A c.(1081-1083)TCT>ACT p.S361T CCDC57_uc002kdx.1_Missense_Mutation_p.S361T|CCDC57_uc010dik.1_5'UTR NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 361 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TCCCAGGCAGATTTTACAGTT 0.453 SMCHD1 23347 broad.mit.edu 37 18 2707836 2707836 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:2707836A>G uc002klm.3 + 17 2367 c.2178A>G c.(2176-2178)AAA>AAG p.K726K SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 726 chromosome organization ATP binding 0 TGAATAAAAAAGGGGAAGCAA 0.343 SMCHD1 23347 broad.mit.edu 37 18 2752539 2752539 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:2752539C>T uc002klm.3 + 34 4524 c.4335C>T c.(4333-4335)TGC>TGT p.C1445C SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1445 chromosome organization ATP binding 0 AAGATGGCTGCTTCTATTTCA 0.348 TMEM200C 645369 broad.mit.edu 37 18 5890416 5890416 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:5890416C>T uc002kmx.1 - 1 1688 c.1647G>A c.(1645-1647)TCG>TCA p.S549S NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 549 integral to membrane 0 CGTCCAAGACCGACTCGGTGG 0.687 LAMA1 284217 broad.mit.edu 37 18 7050823 7050823 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:7050823G>A uc002knm.2 - 4 552 c.458C>T c.(457-459)GCA>GTA p.A153V LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 153 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCGCTGACTGCATAATACTG 0.498 RALBP1 10928 broad.mit.edu 37 18 9535730 9535730 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:9535730G>A uc002kob.2 + 10 1986 c.1763G>A c.(1762-1764)CGC>CAC p.R588H RALBP1_uc002koc.2_Missense_Mutation_p.R588H NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 588 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 ATCGAGCTGCGCGTGCAGCTG 0.592 FAM38B 63895 broad.mit.edu 37 18 10671626 10671626 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:10671626C>T uc002kor.3 - 14 2168 c.2028G>A c.(2026-2028)GAG>GAA p.E676E FAM38B_uc002koq.2_Silent_p.E511E NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2719 integral to membrane ion channel activity ovary(1) 1 GTTCTCCTGTCTCTCGAACTA 0.368 PTPN2 5771 broad.mit.edu 37 18 12802072 12802072 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:12802072A>G uc002krp.2 - 8 1131 c.937T>C c.(937-939)TAC>CAC p.Y313H PTPN2_uc002krl.2_Missense_Mutation_p.Y313H|PTPN2_uc002krn.2_Missense_Mutation_p.Y336H|PTPN2_uc002kro.2_Missense_Mutation_p.Y313H|PTPN2_uc002krm.2_Missense_Mutation_p.Y313H NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 313 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) TTCCCATTGTATTTTTCAGTC 0.378 ROCK1 6093 broad.mit.edu 37 18 18622646 18622646 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:18622646C>T uc002kte.2 - 7 1641 c.700G>A c.(700-702)GCG>ACG p.A234T NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 234 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) GTTCCAACCGCTGTATCACAT 0.373 SNRPD1 6632 broad.mit.edu 37 18 19209067 19209067 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:19209067C>T uc002ktj.1 + 4 459 c.328C>T c.(328-330)CGT>TGT p.R110C NM_006938 NP_008869 P62314 SMD1_HUMAN small nuclear ribonucleoprotein D1 polypeptide 110 Arg/Lys-rich (basic). ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding|RNA binding 0 aggacgtggccgtggcagagg 0.249 CTAGE1 64693 broad.mit.edu 37 18 19997258 19997258 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:19997258G>A uc002ktv.1 - 1 621 c.517C>T c.(517-519)CGG>TGG p.R173W NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 173 Potential. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) ATCTCCAACCGTTCTTCATTC 0.388 RBBP8 5932 broad.mit.edu 37 18 20573099 20573099 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:20573099C>A uc002ktw.2 + 11 1640 c.1309C>A c.(1309-1311)CTG>ATG p.L437M RBBP8_uc002kty.2_Missense_Mutation_p.L437M|RBBP8_uc002ktz.2_Missense_Mutation_p.L437M|RBBP8_uc002kua.2_Missense_Mutation_p.L437M|RBBP8_uc002ktx.1_Missense_Mutation_p.L437M NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 437 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TTTGGAGCCCCTGAAATCATT 0.373 Direct_reversal_of_damage|Homologous_recombination NPC1 4864 broad.mit.edu 37 18 21114443 21114443 + Silent SNP G G A rs141659629 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:21114443G>A uc002kum.3 - 23 3832 c.3558C>T c.(3556-3558)CGC>CGT p.R1186R NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.1_Silent_p.R919R NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 1186 R -> H (in NPC1). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) CCTCTTCCGCGCGCTCCACGC 0.582 ZNF521 25925 broad.mit.edu 37 18 22804544 22804544 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:22804544G>A uc002kvk.2 - 4 3585 c.3338C>T c.(3337-3339)ACG>ATG p.T1113M ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T1113M|ZNF521_uc002kvl.2_Missense_Mutation_p.T893M NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1113 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGGTCTATTCGTGCCGGGAGG 0.552 T PAX5 ALL CDH2 1000 broad.mit.edu 37 18 25568495 25568495 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:25568495A>G uc002kwg.2 - 11 2193 c.1734T>C c.(1732-1734)TCT>TCC p.S578S CDH2_uc010xbn.1_Silent_p.S547S NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 578 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 TACCATTGTCAGAAGCAAGGA 0.338 ELP2 55250 broad.mit.edu 37 18 33713227 33713227 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:33713227T>C uc002kzk.1 + 2 175 c.165T>C c.(163-165)AAT>AAC p.N55N ELP2_uc010xcg.1_Silent_p.N55N|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.N55N|ELP2_uc010xch.1_Silent_p.N55N|ELP2_uc002kzn.1_Silent_p.N55N|ELP2_uc002kzo.1_Silent_p.N55N NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 55 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 CCAACTTGAATGGTCACACCG 0.318 FHOD3 80206 broad.mit.edu 37 18 34298520 34298520 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:34298520C>T uc002kzt.1 + 15 2780 c.2683C>T c.(2683-2685)CGT>TGT p.R895C FHOD3_uc002kzs.1_Missense_Mutation_p.R912C|FHOD3_uc010dmz.1_Missense_Mutation_p.R627C|FHOD3_uc010dna.1_Missense_Mutation_p.R215C NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 895 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GAAGACCATCCGTTTGTTCTG 0.502 SETBP1 26040 broad.mit.edu 37 18 42533097 42533097 + Silent SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:42533097T>G uc010dni.2 + 4 4088 c.3792T>G c.(3790-3792)TCT>TCG p.S1264S NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1264 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAAGATACTCTGGCAGTGGCG 0.532 Schinzel-Giedion_syndrome MYO5B 4645 broad.mit.edu 37 18 47479669 47479669 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:47479669C>A uc002leb.2 - 14 2001 c.1713G>T c.(1711-1713)ACG>ACT p.T571T MYO5B_uc002lec.1_Silent_p.T570T NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 571 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CTTCATACACCGTGTCTCTGT 0.522 FECH 2235 broad.mit.edu 37 18 55240556 55240556 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:55240556G>T uc002lgq.3 - 3 353 c.236C>A c.(235-237)CCT>CAT p.P79H FECH_uc002lgp.3_Missense_Mutation_p.P85H|FECH_uc002lgr.3_Translation_Start_Site NM_000140 NP_000131 P22830 HEMH_HUMAN ferrochelatase isoform b precursor 79 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1) 1 Colorectal(73;0.227) AAGAGTTTCAGGGCCTCCCAT 0.398 ZNF532 55205 broad.mit.edu 37 18 56586342 56586342 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:56586342G>A uc002lho.2 + 4 1370 c.823G>A c.(823-825)GCG>ACG p.A275T ZNF532_uc002lhp.2_Missense_Mutation_p.A273T|ZNF532_uc010xeg.1_Missense_Mutation_p.A273T|ZNF532_uc002lhr.2_Missense_Mutation_p.A273T|ZNF532_uc002lhs.2_Missense_Mutation_p.A273T NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 CGCTGCCATCGCGGCTCTCAG 0.552 CDH20 28316 broad.mit.edu 37 18 59195263 59195263 + Nonsense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:59195263G>T uc010dps.1 + 6 1093 c.1081G>T c.(1081-1083)GAG>TAG p.E361* CDH20_uc002lif.2_Nonsense_Mutation_p.E355* NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 361 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TCCTCACCTAGAGATGCGTTT 0.478 CDH19 28513 broad.mit.edu 37 18 64202234 64202234 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:64202234G>A uc002lkc.1 - 8 1463 c.1325C>T c.(1324-1326)GCC>GTC p.A442V CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.A442V|CDH19_uc002lkd.2_Missense_Mutation_p.A442V NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 442 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TTTTTCTGTGGCTGTAATACT 0.333 TSHZ1 10194 broad.mit.edu 37 18 72999092 72999092 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:72999092C>A uc002lly.2 + 2 2158 c.1595C>A c.(1594-1596)CCC>CAC p.P532H NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 577 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGTGGCTACCCCAGCATCCAT 0.642 SALL3 27164 broad.mit.edu 37 18 76752144 76752144 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:76752144C>T uc002lmt.2 + 2 153 c.153C>T c.(151-153)AGC>AGT p.S51S SALL3_uc010dra.2_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) AGGAGACCAGCGTGTGCGAGA 0.687 NFATC1 4772 broad.mit.edu 37 18 77171052 77171052 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:77171052C>T uc010xfg.1 + 2 1230 c.777C>T c.(775-777)CCC>CCT p.P259P NFATC1_uc002lnc.1_Silent_p.P259P|NFATC1_uc010xff.1_Silent_p.P259P|NFATC1_uc002lnd.2_Silent_p.P259P|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.P259P|NFATC1_uc010xfi.1_Silent_p.P246P|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.P246P|NFATC1_uc002lng.2_Silent_p.P246P|NFATC1_uc010xfk.1_Silent_p.P246P NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 259 3 X SP repeats. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCTCCAGACCCGCGTCCCCTT 0.731 FSTL3 10272 broad.mit.edu 37 19 681492 681492 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:681492G>A uc002lpk.1 + 4 700 c.665G>A c.(664-666)TGC>TAC p.C222Y FSTL3_uc010drt.1_RNA NM_005860 NP_005851 O95633 FSTL3_HUMAN follistatin-like 3 glycoprotein precursor 222 Kazal-like 2. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCTCCTCGTGCCACATGCGC 0.711 T CCND1 B-CLL ZNF554 115196 broad.mit.edu 37 19 2832394 2832394 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:2832394C>T uc002lwm.2 + 4 545 c.347C>T c.(346-348)ACG>ATG p.T116M ZNF554_uc002lwl.2_Missense_Mutation_p.T65M NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 116 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) TCCTCATGGACGGGGTATTTA 0.468 S1PR4 8698 broad.mit.edu 37 19 3179131 3179131 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:3179131C>T uc002lxg.2 + 1 366 c.341C>T c.(340-342)GCG>GTG p.A114V NM_003775 NP_003766 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 precursor 114 Extracellular (By similarity). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|skin(1) 2 TTCCGTCTGGCGCCCGCCCAG 0.667 NFIC 4782 broad.mit.edu 37 19 3382065 3382065 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:3382065G>A uc010xhi.1 + 2 448 c.386G>A c.(385-387)CGG>CAG p.R129Q NFIC_uc002lxo.2_Missense_Mutation_p.R120Q|NFIC_uc010xhh.1_Missense_Mutation_p.R120Q|NFIC_uc002lxp.2_Missense_Mutation_p.R129Q|NFIC_uc010xhj.1_Missense_Mutation_p.R129Q|NFIC_uc002lxq.1_Missense_Mutation_p.R81Q NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 129 CTF/NF-I. DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) AAGGTGTGGCGGCTGGACCTG 0.672 PLIN4 729359 broad.mit.edu 37 19 4510529 4510529 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:4510529C>T uc002mar.1 - 3 3401 c.3401G>A c.(3400-3402)CGC>CAC p.R1134H PLIN4_uc010dub.1_Missense_Mutation_p.R158H NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 1134 lipid particle|plasma membrane 0 CATTGCCAAGCGTGGGGCTTC 0.657 KDM4B 23030 broad.mit.edu 37 19 5110659 5110659 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:5110659G>A uc002mbq.3 + 10 1171 c.945G>A c.(943-945)AAG>AAA p.K315K KDM4B_uc010xil.1_Silent_p.K315K|KDM4B_uc010xim.1_Silent_p.K315K|KDM4B_uc002mbr.3_Silent_p.K73K NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 315 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 ACATGGTCAAGATCTCCATGG 0.672 PTPRS 5802 broad.mit.edu 37 19 5212258 5212258 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:5212258G>A uc002mbv.2 - 32 5007 c.4773C>T c.(4771-4773)GCC>GCT p.A1591A PTPRS_uc002mbu.1_Silent_p.A1160A|PTPRS_uc010xin.1_Silent_p.A1133A|PTPRS_uc002mbw.2_Silent_p.A1553A|PTPRS_uc002mbx.2_Silent_p.A1148A|PTPRS_uc002mby.2_Silent_p.A1144A NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1591 Substrate binding (By similarity).|Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGCCCACACCGGCACTGCAGG 0.637 ZNRF4 148066 broad.mit.edu 37 19 5456550 5456550 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:5456550G>A uc002mca.3 + 1 1125 c.1048G>A c.(1048-1050)GTG>ATG p.V350M NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 350 RING-type; atypical.|Cytoplasmic (Potential). integral to membrane zinc ion binding p.V350M(1) large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CTCCTGCCCCGTGTGCAAACA 0.642 ALKBH7 84266 broad.mit.edu 37 19 6374236 6374236 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:6374236C>T uc002meo.1 + 2 615 c.227C>T c.(226-228)ACA>ATA p.T76I NM_032306 NP_115682 Q9BT30 ALKB7_HUMAN spermatogenesis associated 11 precursor 76 extracellular region|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TTCCGAGAGACAGAGAAGTCG 0.657 C3 718 broad.mit.edu 37 19 6718271 6718271 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:6718271G>A uc002mfm.2 - 3 482 c.420C>T c.(418-420)ACC>ACT p.T140T NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 140 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGGAGCCAGGGGTGTAGATGG 0.657 INSR 3643 broad.mit.edu 37 19 7120730 7120730 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:7120730G>A uc002mgd.1 - 20 3669 c.3560C>T c.(3559-3561)ACG>ATG p.T1187M INSR_uc002mge.1_Missense_Mutation_p.T1175M NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1187 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTAGTAATCCGTTTCATAGAT 0.527 ELAVL1 1994 broad.mit.edu 37 19 8028545 8028545 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:8028545C>T uc002mjb.2 - 6 970 c.803G>A c.(802-804)GGT>GAT p.G268D NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 268 RRM 3. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 GGTGACGGCACCAAACGGCCC 0.547 FBN3 84467 broad.mit.edu 37 19 8182094 8182094 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:8182094C>T uc002mjf.2 - 27 3566 c.3545G>A c.(3544-3546)GGG>GAG p.G1182E NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1182 EGF-like 16; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GTAGCCCTGCCCACAGCTGCA 0.602 ACTL9 284382 broad.mit.edu 37 19 8808202 8808202 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:8808202C>T uc002mkl.2 - 1 971 c.850G>A c.(850-852)GAT>AAT p.D284N NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 284 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 GTGCGCCCATCGGGCAGCTTC 0.637 MUC16 94025 broad.mit.edu 37 19 9049116 9049116 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:9049116T>C uc002mkp.2 - 5 32719 c.32515A>G c.(32515-32517)ACT>GCT p.T10839A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10841 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAAATGGAAGTTGTCCAGGGA 0.473 ANGPTL6 83854 broad.mit.edu 37 19 10204415 10204415 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:10204415C>A uc002mmx.1 - 4 1023 c.905G>T c.(904-906)AGG>ATG p.R302M ANGPTL6_uc002mmy.1_Missense_Mutation_p.R302M NM_031917 NP_114123 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 precursor 302 Fibrinogen C-terminal. angiogenesis|cell differentiation|signal transduction extracellular space receptor binding 0 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) ACCATCTTGCCTCCGCTGGAT 0.572 PPAN-P2RY11 692312 broad.mit.edu 37 19 10218766 10218766 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:10218766G>A uc002mna.2 + 5 469 c.469G>A c.(469-471)GCC>ACC p.A157T PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.A157T|PPAN_uc002mmz.1_Missense_Mutation_p.A157T|PPAN_uc002mnb.1_Missense_Mutation_p.A104T|SNORD105B_uc010dwz.1_5'Flank NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 157 Brix. RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GAAGCTCATGGCCACCATGTT 0.622 S1PR2 9294 broad.mit.edu 37 19 10335348 10335348 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:10335348G>A uc002mnl.2 - 2 345 c.234C>T c.(232-234)TCC>TCT p.S78S NM_004230 NP_004221 O95136 S1PR2_HUMAN endothelial differentiation, sphingolipid 78 Helical; Name=2; (By similarity). activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|central_nervous_system(1) 2 CCAGTAGATCGGAGGCGGCCA 0.602 KEAP1 9817 broad.mit.edu 37 19 10602646 10602646 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:10602646T>C uc002moq.1 - 3 1088 c.932A>G c.(931-933)CAC>CGC p.H311R KEAP1_uc002mop.1_Missense_Mutation_p.H29R|KEAP1_uc002mor.1_Missense_Mutation_p.H311R NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGTGGGCTTGTGCAGGGTGAG 0.637 KANK2 25959 broad.mit.edu 37 19 11304273 11304273 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:11304273G>A uc010dxv.2 - 6 1041 c.483C>T c.(481-483)GGC>GGT p.G161G KANK2_uc002mqm.2_Silent_p.G161G|KANK2_uc002mqo.3_Silent_p.G161G|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.2_Silent_p.G161G NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 161 0 GCAACCCCACGCCCACCAGGG 0.731 MAN2B1 4125 broad.mit.edu 37 19 12776529 12776529 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:12776529A>G uc002mub.2 - 2 326 c.250T>C c.(250-252)TAC>CAC p.Y84H MAN2B1_uc010dyv.1_Missense_Mutation_p.Y84H|WDR83_uc002mue.3_5'Flank|WDR83_uc002muc.2_5'Flank NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 84 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 CCATAAAAGTACTGGTCCACG 0.577 TNPO2 30000 broad.mit.edu 37 19 12812476 12812476 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:12812476A>G uc002muo.2 - 23 2707 c.2522T>C c.(2521-2523)TTC>TCC p.F841S TNPO2_uc002mup.2_Missense_Mutation_p.F923S|TNPO2_uc002muq.2_Missense_Mutation_p.F831S|TNPO2_uc002mur.2_Missense_Mutation_p.F831S NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 841 F -> L (in Ref. 2; AAB71349). intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 ATCGCAGAAGAAAATAAAGTC 0.612 AKAP8 10270 broad.mit.edu 37 19 15483890 15483890 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:15483890C>T uc002nav.2 - 5 694 c.633G>A c.(631-633)GTG>GTA p.V211V AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Silent_p.V25V NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 211 signal transduction nuclear matrix ovary(1)|breast(1) 2 CAGCGGGGGGCACGAAGGGGT 0.726 CYP4F22 126410 broad.mit.edu 37 19 15636311 15636311 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:15636311G>A uc002nbh.3 + 3 331 c.164G>A c.(163-165)CGG>CAG p.R55Q NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 55 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 ACCTGCCGCCGGCTGCGCTGC 0.537 CYP4F22 126410 broad.mit.edu 37 19 15648384 15648384 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:15648384C>T uc002nbh.3 + 6 627 c.460C>T c.(460-462)CGG>TGG p.R154W NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 154 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 CAAGTGGAGCCGGCACCGTCG 0.547 C19orf44 84167 broad.mit.edu 37 19 16612361 16612361 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:16612361C>T uc002neh.1 + 2 831 c.758C>T c.(757-759)TCG>TTG p.S253L MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S253L|C19orf44_uc002neg.2_Missense_Mutation_p.S253L|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 253 0 AAACTATTTTCGGTGAGAttt 0.229 ANKLE1 126549 broad.mit.edu 37 19 17396566 17396566 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:17396566G>A uc002nga.2 + 8 1889 c.1613G>A c.(1612-1614)TGC>TAC p.C538Y ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.C534Y|ANKLE1_uc010xpn.1_Intron|ANKLE1_uc002nfy.2_Missense_Mutation_p.C501Y|ANKLE1_uc002nfz.2_Missense_Mutation_p.C244Y NM_152363 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat domain 41 538 nuclear envelope 0 TCCCTACATTGCTTCCAGCAC 0.577 ARRDC2 27106 broad.mit.edu 37 19 18120452 18120452 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:18120452C>T uc002nhv.2 + 4 684 c.541C>T c.(541-543)CGT>TGT p.R181C ARRDC2_uc002nhu.2_Missense_Mutation_p.R176C NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 181 pancreas(1) 1 GTACTGTAACCGTGGCCTAGT 0.602 ARRDC2 27106 broad.mit.edu 37 19 18121027 18121027 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:18121027C>T uc002nhv.2 + 6 1015 c.872C>T c.(871-873)ACG>ATG p.T291M ARRDC2_uc002nhu.2_Missense_Mutation_p.T286M NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 291 pancreas(1) 1 ATCCCAGGAACGTCCAAGCTG 0.632 PIK3R2 5296 broad.mit.edu 37 19 18279572 18279572 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:18279572G>A uc002nia.1 + 15 2357 c.1845G>A c.(1843-1845)CCG>CCA p.P615P PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 615 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 ACGATCTCCCGCACCACGAGG 0.667 OREG0025359 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KIAA1683 80726 broad.mit.edu 37 19 18375881 18375881 + Silent SNP C C T rs149210128 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:18375881C>T uc002nin.2 - 3 2685 c.2469G>A c.(2467-2469)CCG>CCA p.P823P KIAA1683_uc010ebn.2_Silent_p.P823P|KIAA1683_uc010xqe.1_Silent_p.P777P NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 823 mitochondrion ovary(2) 2 CACAGGCTGCCGGGCATGGTC 0.677 TMEM59L 25789 broad.mit.edu 37 19 18729233 18729233 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:18729233C>T uc002njy.3 + 7 918 c.831C>T c.(829-831)TCC>TCT p.S277S NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 277 Helical; (Potential). Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 TCTTCCTCTCCGTGCTGGTGA 0.697 NCAN 1463 broad.mit.edu 37 19 19335242 19335242 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:19335242G>T uc002nlz.2 + 5 877 c.778G>T c.(778-780)GGC>TGC p.G260C NCAN_uc010ecc.1_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 260 Link 2. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GGAGCTGGGGGGTAAGTCTGG 0.592 TM6SF2 53345 broad.mit.edu 37 19 19375644 19375644 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:19375644G>A uc002nmd.1 - 10 1013 c.963C>T c.(961-963)CGC>CGT p.R321R HAPLN4_uc002nmb.2_5'Flank|HAPLN4_uc002nmc.2_Intron NM_001001524 NP_001001524 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 321 integral to membrane 0 Epithelial(12;0.0151) TGAAGGGTGTGCGCAGGTGCA 0.607 GATAD2A 54815 broad.mit.edu 37 19 19606629 19606629 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:19606629T>C uc010xqt.1 + 6 1003 c.691T>C c.(691-693)TCC>CCC p.S231P GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqv.1_Missense_Mutation_p.S250P|GATAD2A_uc010xqw.1_Missense_Mutation_p.S58P NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 231 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 GCAGCAGGCGTCCTCGAAGCT 0.642 ATP13A1 57130 broad.mit.edu 37 19 19767469 19767469 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:19767469C>A uc002nnh.3 - 7 1111 c.1083G>T c.(1081-1083)AAG>AAT p.K361N ATP13A1_uc002nnf.3_5'Flank|ATP13A1_uc002nng.2_Missense_Mutation_p.K243N NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 361 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 CACCAAGTACCTTCATCTGTG 0.647 ZNF486 90649 broad.mit.edu 37 19 20308172 20308172 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:20308172C>T uc002nou.2 + 4 710 c.653C>T c.(652-654)GCC>GTC p.A218V NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 218 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTGGCAAAGCCTTCAACCGG 0.378 ZNF99 7652 broad.mit.edu 37 19 22940245 22940245 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:22940245A>G uc010xrh.1 - 5 2193 c.2193T>C c.(2191-2193)TGT>TGC p.C731C NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAGCTTTACCACATTCTTCAC 0.343 ZNF99 7652 broad.mit.edu 37 19 22941839 22941839 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:22941839C>T uc010xrh.1 - 5 599 c.599G>A c.(598-600)GGC>GAC p.G200D NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAAAGCTTTGCCACATTCTTC 0.348 CHST8 64377 broad.mit.edu 37 19 34263463 34263463 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:34263463T>A uc002nus.3 + 5 1275 c.770T>A c.(769-771)GTC>GAC p.V257D CHST8_uc002nut.3_Missense_Mutation_p.V257D|CHST8_uc002nuu.2_Missense_Mutation_p.V257D NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 257 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) ATGCTCTTTGTCCGCGAGCCC 0.612 KCTD15 79047 broad.mit.edu 37 19 34302308 34302308 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:34302308G>A uc002nuy.3 + 6 812 c.544G>A c.(544-546)GCA>ACA p.A182T KCTD15_uc002nuv.2_Missense_Mutation_p.A182T|KCTD15_uc002nuw.3_Missense_Mutation_p.A182T|KCTD15_uc010xrt.1_Missense_Mutation_p.A182T|KCTD15_uc002nux.3_Missense_Mutation_p.A182T NM_001129994 NP_001123466 Q96SI1 KCD15_HUMAN potassium channel tetramerisation domain 182 voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 Esophageal squamous(110;0.162) CGAGCGGATCGCACTCAGCGG 0.697 KIAA0355 9710 broad.mit.edu 37 19 34843719 34843719 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:34843719C>T uc002nvd.3 + 14 3931 c.3072C>T c.(3070-3072)AAC>AAT p.N1024N NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 1024 ovary(1) 1 Esophageal squamous(110;0.162) CCGCAACCAACGACTGCAGTG 0.652 NPHS1 4868 broad.mit.edu 37 19 36335025 36335025 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:36335025C>T uc002oby.2 - 16 2192 c.2192G>A c.(2191-2193)CGG>CAG p.R731Q NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 731 Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGCCGCAGCCGCGCTTCCGC 0.642 WDR62 284403 broad.mit.edu 37 19 36590367 36590367 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:36590367C>T uc002odc.2 + 22 2678 c.2587C>T c.(2587-2589)CGC>TGC p.R863C WDR62_uc002odd.2_Missense_Mutation_p.R863C NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 863 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCCCACGGCCGCTGGGCAGA 0.617 ZNF829 374899 broad.mit.edu 37 19 37382938 37382938 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:37382938C>T uc002ofa.1 - 6 1117 c.755G>A c.(754-756)TGC>TAC p.C252Y ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 252 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGGTTTGAGCAATACTTAAA 0.348 ZNF568 374900 broad.mit.edu 37 19 37441310 37441310 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:37441310G>A uc002ofc.2 + 7 1770 c.1255G>A c.(1255-1257)GTA>ATA p.V419I ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.V343I|ZNF568_uc010efe.2_Missense_Mutation_p.V343I|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 419 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAACCCTATGTATGTAGTGA 0.388 PSMD8 5714 broad.mit.edu 37 19 38869929 38869929 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:38869929C>A uc002oii.3 + 4 638 c.586C>A c.(586-588)CTC>ATC p.L196I PSMD8_uc010efx.1_Missense_Mutation_p.L29I NM_002812 NP_002803 P48556 PSMD8_HUMAN proteasome 26S non-ATPase subunit 8 196 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome regulatory particle protein binding central_nervous_system(1) 1 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGGCCTCAACCTCCTCTTCCT 0.587 RYR1 6261 broad.mit.edu 37 19 39001390 39001390 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:39001390G>A uc002oit.2 + 60 9221 c.9091G>A c.(9091-9093)GCC>ACC p.A3031T RYR1_uc002oiu.2_Missense_Mutation_p.A3031T|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3031 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGGTGGCCACGCCTCTAACAA 0.572 RYR1 6261 broad.mit.edu 37 19 39018400 39018400 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:39018400A>G uc002oit.2 + 73 10930 c.10800A>G c.(10798-10800)TCA>TCG p.S3600S RYR1_uc002oiu.2_Silent_p.S3595S|RYR1_uc002oiv.1_Silent_p.S515S|RYR1_uc010xuf.1_Silent_p.S520S NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3600 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGAAGTGTCAGCCGTGCTCT 0.667 RINL 126432 broad.mit.edu 37 19 39361401 39361401 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:39361401T>C uc002ojq.2 - 8 879 c.491A>G c.(490-492)TAC>TGC p.Y164C RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.Y278C NM_198445 NP_940847 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 164 GTPase activator activity pancreas(1) 1 AAGGCTTCGGTACTGCCTGGC 0.652 NFKBIB 4793 broad.mit.edu 37 19 39399455 39399455 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:39399455G>A uc002ojw.2 + 6 1112 c.1054G>A c.(1054-1056)GAC>AAC p.D352N NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR NM_002503 NP_002494 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene 352 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity lung(1)|kidney(1) 2 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TCTTCCTGACGACCCCCGCCC 0.502 FCGBP 8857 broad.mit.edu 37 19 40366105 40366105 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:40366105G>T uc002omp.3 - 30 14137 c.14129C>A c.(14128-14130)CCT>CAT p.P4710H NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4710 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGCCACTGCAGGACAGAGGCC 0.677 FCGBP 8857 broad.mit.edu 37 19 40395994 40395994 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:40395994C>T uc002omp.3 - 15 7411 c.7403G>A c.(7402-7404)CGC>CAC p.R2468H NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 2468 VWFD 6. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GAAGTCGAAGCGGCGGCCATC 0.672 FCGBP 8857 broad.mit.edu 37 19 40421347 40421347 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:40421347G>T uc002omp.3 - 5 2582 c.2574C>A c.(2572-2574)CCC>CCA p.P858P NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 858 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CGAAGCGATCGGGGTAGCAGC 0.687 POU2F2 5452 broad.mit.edu 37 19 42599459 42599459 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:42599459C>T uc002osp.2 - 11 1177 c.1110G>A c.(1108-1110)CCG>CCA p.P370P POU2F2_uc002osn.2_Silent_p.P354P|POU2F2_uc002oso.2_Silent_p.P143P|POU2F2_uc002osq.2_Silent_p.P354P|POU2F2_uc002osr.1_Silent_p.P370P NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 370 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) TGTAGCTGGCCGGCTTCCCTG 0.647 CD177 57126 broad.mit.edu 37 19 43866334 43866334 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:43866334G>A uc002owi.2 + 10 1218 c.1176G>A c.(1174-1176)GCG>GCA p.A392A CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN CD177 molecule precursor 392 blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1) 1 Prostate(69;0.00682) TCTTCTCTGCGCGTGAGAAGC 0.607 XRCC1 7515 broad.mit.edu 37 19 44057634 44057634 + Missense_Mutation SNP G G A rs143266865 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:44057634G>A uc002owt.2 - 6 640 c.520C>T c.(520-522)CGT>TGT p.R174C XRCC1_uc010xwp.1_Missense_Mutation_p.R143C NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 174 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) TCCTTCACACGGAACTGGCCA 0.587 Other_BER_factors CADM4 199731 broad.mit.edu 37 19 44130298 44130298 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:44130298C>T uc002oxc.1 - 5 691 c.642G>A c.(640-642)ACG>ACA p.T214T NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 214 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion integral to membrane 0 Prostate(69;0.0199) GCACGTACTGCGTCTGCTTGC 0.637 ZNF227 7770 broad.mit.edu 37 19 44739650 44739650 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:44739650A>G uc002oyu.2 + 6 1272 c.1067A>G c.(1066-1068)GAA>GGA p.E356G ZNF227_uc010xwu.1_Missense_Mutation_p.E305G|ZNF227_uc002oyv.2_Missense_Mutation_p.E356G|ZNF227_uc010xwv.1_Missense_Mutation_p.E305G|ZNF227_uc010xww.1_Missense_Mutation_p.E277G|ZNF227_uc002oyw.2_Missense_Mutation_p.E328G|ZNF227_uc010ejh.2_Missense_Mutation_p.E349G|ZNF235_uc002oyx.1_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 356 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) AAATGCGAGGAATGTGGTAAA 0.423 RTN2 6253 broad.mit.edu 37 19 45997462 45997462 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:45997462G>A uc002pcb.2 - 4 1004 c.776C>T c.(775-777)ACG>ATG p.T259M RTN2_uc002pcc.2_Missense_Mutation_p.T259M|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 259 integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) TAATTGGTCCGTGCTATCGAG 0.537 OPA3 80207 broad.mit.edu 37 19 46057131 46057131 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:46057131T>C uc002pck.3 - 2 281 c.181A>G c.(181-183)ATG>GTG p.M61V OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.M8V NM_025136 NP_079412 Q9H6K4 OPA3_HUMAN OPA3 protein isoform b 61 response to stimulus|visual perception mitochondrion 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) CGGAAGCCCATGATGCGCATC 0.667 FOXA3 3171 broad.mit.edu 37 19 46375340 46375340 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:46375340C>T uc002pdr.2 + 2 274 c.77C>T c.(76-78)TCG>TTG p.S26L NM_004497 NP_004488 P55318 FOXA3_HUMAN forkhead box A3 26 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1) 1 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) TAGGTCTACTCGCCGGTGACC 0.617 ZC3H4 23211 broad.mit.edu 37 19 47572412 47572412 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:47572412C>G uc002pga.3 - 14 2373 c.2335G>C c.(2335-2337)GAG>CAG p.E779Q ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 779 Potential. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCCTCCTCCTGCTGCTTC 0.701 TMEM143 55260 broad.mit.edu 37 19 48845826 48845826 + Silent SNP C C T rs138171230 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:48845826C>T uc002pix.1 - 6 945 c.936G>A c.(934-936)CTG>CTA p.L312L TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Silent_p.L277L|TMEM143_uc010xzn.1_Silent_p.L247L|TMEM143_uc010elw.1_Silent_p.L212L|TMEM143_uc010xzo.1_Silent_p.L102L NM_018273 NP_060743 Q96AN5 TM143_HUMAN transmembrane protein 143 312 Helical; (Potential). integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) CGAAGAGCAGCAGCAGCAGGG 0.667 SYNGR4 23546 broad.mit.edu 37 19 48879533 48879533 + Silent SNP C C T rs149839356 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:48879533C>T uc002piz.2 + 5 908 c.663C>T c.(661-663)ACC>ACT p.T221T NM_012451 NP_036583 O95473 SNG4_HUMAN synaptogyrin 4 221 integral to membrane 0 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CCTGTCTGACCGCTCCAAAGT 0.537 GYS1 2997 broad.mit.edu 37 19 49481210 49481210 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:49481210T>C uc002plp.2 - 10 1520 c.1279A>G c.(1279-1281)ATG>GTG p.M427V GYS1_uc010xzy.1_Missense_Mutation_p.M60V|GYS1_uc010emm.2_Missense_Mutation_p.M363V|GYS1_uc010xzz.1_Missense_Mutation_p.M347V|GYS1_uc010yaa.1_RNA NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 427 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CTCTTCATCATAGTGAAGTCT 0.537 KCNA7 3743 broad.mit.edu 37 19 49575336 49575336 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:49575336G>A uc002pmg.2 - 1 863 c.507C>T c.(505-507)CGC>CGT p.R169R NM_031886 NP_114092 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related 169 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1) 1 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) CGCGGTCGTCGCGGAAGTCAG 0.711 ALDH16A1 126133 broad.mit.edu 37 19 49971789 49971789 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:49971789C>T uc002pnt.2 + 15 2206 c.2090C>T c.(2089-2091)GCG>GTG p.A697V ALDH16A1_uc010yar.1_Missense_Mutation_p.A646V|ALDH16A1_uc010yas.1_Missense_Mutation_p.A532V|ALDH16A1_uc010yat.1_Missense_Mutation_p.A534V NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 697 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GTGCCCAGTGCGGCCTGTCCT 0.667 AP2A1 160 broad.mit.edu 37 19 50305853 50305853 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:50305853C>T uc002ppn.2 + 16 2388 c.2177C>T c.(2176-2178)GCT>GTT p.A726V AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.2_Intron|AP2A1_uc002ppp.1_3'UTR|AP2A1_uc010enk.2_5'Flank NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 726 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) GCTCCAGCTGCTGAGTAAGGG 0.667 MYBPC2 4606 broad.mit.edu 37 19 50957409 50957409 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:50957409G>A uc002psf.2 + 17 1933 c.1882G>A c.(1882-1884)GTG>ATG p.V628M NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 628 Ig-like C2-type 5. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CGGCGAGGACGTGGCTTCCAT 0.627 SIGLEC8 27181 broad.mit.edu 37 19 51955642 51955642 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:51955642G>A uc002pwt.2 - 7 1558 c.1491C>T c.(1489-1491)GTC>GTT p.V497V SIGLEC8_uc010yda.1_Silent_p.V388V|SIGLEC8_uc002pwu.2_Intron|SIGLEC8_uc010eox.2_Silent_p.V404V NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 497 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATCAGCCTCTGACTTCTTTGC 0.318 PPP2R1A 5518 broad.mit.edu 37 19 52716250 52716250 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:52716250G>A uc002pyp.2 + 6 853 c.694G>A c.(694-696)GCC>ACC p.A232T PPP2R1A_uc010ydk.1_Missense_Mutation_p.A177T|PPP2R1A_uc010epm.1_Missense_Mutation_p.A272T|PPP2R1A_uc002pyq.2_Missense_Mutation_p.A53T NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 232 PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 6.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CGTGAACATCGCCCAGCTTCT 0.652 Mis clear cell ovarian carcinoma NLRP12 91662 broad.mit.edu 37 19 54327438 54327438 + Translation_Start_Site SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:54327438G>A uc002qch.3 - 1 211 c.-9C>T c.(-11--7)CACGG>CATGG NLRP12_uc002qci.3_Translation_Start_Site|NLRP12_uc002qcj.3_Translation_Start_Site|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Translation_Start_Site NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TGGGGGTGCCGTGAGCCCCAA 0.592 LENG8 114823 broad.mit.edu 37 19 54968979 54968979 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:54968979C>T uc002qfv.1 + 11 1818 c.1674C>T c.(1672-1674)GAC>GAT p.D558D LENG8_uc002qfw.2_Silent_p.D595D Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 558 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) AGAAGCAGGACTACGCGTTTG 0.567 NLRP11 204801 broad.mit.edu 37 19 56303675 56303675 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:56303675C>A uc010ygf.1 - 9 3216 c.2505G>T c.(2503-2505)GAG>GAT p.E835D NLRP11_uc002qlz.2_Missense_Mutation_p.E682D|NLRP11_uc002qmb.2_Missense_Mutation_p.E736D|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 835 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ACTGAAGCTCCTCTAACTGAC 0.483 ZNF71 58491 broad.mit.edu 37 19 57133765 57133765 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:57133765G>A uc002qnm.3 + 3 1348 c.1110G>A c.(1108-1110)ACG>ACA p.T370T NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 370 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CCTCGCTCACGCAGCACCAGC 0.617 ZNF211 10520 broad.mit.edu 37 19 58152147 58152147 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:58152147G>T uc002qpq.2 + 3 473 c.293G>T c.(292-294)AGG>ATG p.R98M ZNF211_uc010yhb.1_Missense_Mutation_p.R102M|ZNF211_uc002qpp.2_Missense_Mutation_p.R111M|ZNF211_uc002qpr.2_Missense_Mutation_p.R162M|ZNF211_uc002qps.2_Missense_Mutation_p.R163M|ZNF211_uc002qpt.2_Missense_Mutation_p.R110M|ZNF211_uc010yhc.1_Missense_Mutation_p.R110M|ZNF211_uc010yhd.1_Missense_Mutation_p.R37M|ZNF211_uc010yhe.1_Missense_Mutation_p.R89M NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 98 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCACAGTTCAGGACTTCCAAA 0.438 ZSCAN22 342945 broad.mit.edu 37 19 58850593 58850593 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:58850593G>T uc002qsc.2 + 3 1524 c.1377G>T c.(1375-1377)ACG>ACT p.T459T ZSCAN22_uc010yhz.1_3'UTR NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 459 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GGATCCACACGGGAGAGAAGC 0.532 ZNF446 55663 broad.mit.edu 37 19 58992029 58992029 + Missense_Mutation SNP G G A rs142233722 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:58992029G>A uc002qsz.2 + 7 1406 c.1289G>A c.(1288-1290)CGC>CAC p.R430H ZNF446_uc002qta.2_3'UTR|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 430 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GACTGTGGCCGCGCCTTCGAC 0.652 PXDN 7837 broad.mit.edu 37 2 1653138 1653138 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:1653138G>A uc002qxa.2 - 17 2478 c.2414C>T c.(2413-2415)ACG>ATG p.T805M NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 805 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) GACGGTCTCCGTCCCGATCAG 0.652 IAH1 285148 broad.mit.edu 37 2 9628458 9628458 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:9628458G>A uc002qzr.2 + 6 773 c.747G>A c.(745-747)TAG>TAA p.*249* IAH1_uc002qzs.2_Silent_p.*136*|IAH1_uc002qzt.2_Silent_p.*136*|IAH1_uc010yiz.1_RNA NM_001039613 NP_001034702 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog 249 lipid catabolic process hydrolase activity, acting on ester bonds 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GAGACCATTAGCCAATCACAG 0.443 WDR35 57539 broad.mit.edu 37 2 20173395 20173395 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:20173395C>T uc002rdi.2 - 8 919 c.811G>A c.(811-813)GCA>ACA p.A271T WDR35_uc002rdj.2_Missense_Mutation_p.A271T|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 271 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGAAGCCTGCCACAGCTAAC 0.458 WDR35 57539 broad.mit.edu 37 2 20175418 20175418 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:20175418C>T uc002rdi.2 - 6 551 c.443G>A c.(442-444)CGT>CAT p.R148H WDR35_uc002rdj.2_Missense_Mutation_p.R148H|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 148 WD 3. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCCAAATACGATTGCCTAA 0.373 RHOB 388 broad.mit.edu 37 2 20647251 20647251 + Missense_Mutation SNP G G C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:20647251G>C uc002rdv.2 + 1 417 c.25G>C c.(25-27)GTG>CTG p.V9L NM_004040 NP_004031 P62745 RHOB_HUMAN ras homolog gene family, member B precursor 9 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CAAGAAGCTGGTGGTGGTGGG 0.687 ASXL2 55252 broad.mit.edu 37 2 25966441 25966441 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:25966441G>A uc002rgs.2 - 12 2986 c.2765C>T c.(2764-2766)GCA>GTA p.A922V ASXL2_uc002rgt.1_Intron NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 922 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTAGAAGCTGCTGGCAAAGT 0.468 EIF2B4 8890 broad.mit.edu 37 2 27591927 27591927 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:27591927G>A uc002rkb.2 - 4 507 c.364C>T c.(364-366)CAA>TAA p.Q122* EIF2B4_uc002rjz.2_Nonsense_Mutation_p.Q142*|EIF2B4_uc002rka.2_Nonsense_Mutation_p.Q107*|EIF2B4_uc002rkc.2_Nonsense_Mutation_p.Q121*|EIF2B4_uc002rkd.2_5'UTR|EIF2B4_uc002rke.2_Nonsense_Mutation_p.Q91*|EIF2B4_uc002rkf.1_Nonsense_Mutation_p.Q91*|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc010ylq.1_5'Flank NM_001034116 NP_001029288 Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, 122 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTCCTCCTTGTTCCCCTTTT 0.562 IFT172 26160 broad.mit.edu 37 2 27703942 27703942 + Silent SNP G G C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:27703942G>C uc002rku.2 - 8 807 c.756C>G c.(754-756)GGC>GGG p.G252G IFT172_uc002rkw.2_Silent_p.G252G|IFT172_uc010yls.1_Silent_p.G231G|IFT172_uc010ezc.2_Silent_p.G252G|IFT172_uc002rkv.2_Silent_p.G252G NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 252 WD 6. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CAACAGACTGGCCCCCAGGAC 0.463 TRMT61B 55006 broad.mit.edu 37 2 29074131 29074131 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:29074131A>G uc002rmm.2 - 5 1151 c.1119T>C c.(1117-1119)ATT>ATC p.I373I TRMT61B_uc002rmn.2_Silent_p.I373I|TRMT61B_uc010ezk.2_Intron NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B 373 tRNA (adenine-N1-)-methyltransferase activity 0 CACAGGTGCGAATTCCATCTA 0.323 GALNT14 79623 broad.mit.edu 37 2 31135133 31135133 + Missense_Mutation SNP C C T rs149431826 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:31135133C>T uc002rnr.2 - 14 2075 c.1456G>A c.(1456-1458)GCC>ACC p.A486T GALNT14_uc002rnq.2_Missense_Mutation_p.A466T|GALNT14_uc002rns.2_Missense_Mutation_p.A491T|GALNT14_uc010ymr.1_Missense_Mutation_p.A451T NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 486 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) ACCACTGGGGCGCCAGGGAAC 0.557 GALNT14 79623 broad.mit.edu 37 2 31152322 31152322 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:31152322C>A uc002rnr.2 - 11 1709 c.1090G>T c.(1090-1092)GAT>TAT p.D364Y GALNT14_uc002rnq.2_Missense_Mutation_p.D344Y|GALNT14_uc002rns.2_Missense_Mutation_p.D369Y|GALNT14_uc010ymr.1_Missense_Mutation_p.D329Y|GALNT14_uc010ezo.1_Missense_Mutation_p.D331Y NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 364 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) TTGTATTCATCCATCCACACT 0.547 XDH 7498 broad.mit.edu 37 2 31560668 31560668 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:31560668G>A uc002rnv.1 - 35 3869 c.3790C>T c.(3790-3792)CCC>TCC p.P1264S NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1264 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGGAAGAGGGGCGGCTCTCCA 0.582 XDH 7498 broad.mit.edu 37 2 31570415 31570415 + Silent SNP G G A rs45562835 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:31570415G>A uc002rnv.1 - 29 3328 c.3249C>T c.(3247-3249)AGC>AGT p.S1083S NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1083 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TGAGGTCAGCGCTGACAGAGG 0.582 BIRC6 57448 broad.mit.edu 37 2 32703728 32703728 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:32703728C>T uc010ezu.2 + 36 7228 c.7094C>T c.(7093-7095)ACG>ATG p.T2365M NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2365 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GCAAATGCCACGAGGCCAACT 0.373 CYP1B1 1545 broad.mit.edu 37 2 38298092 38298092 + Missense_Mutation SNP G G A rs28936701 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:38298092G>A uc002rqo.2 - 4 1808 c.1405C>T c.(1405-1407)CGG>TGG p.R469W NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 469 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) CCAATGCACCGCCTTTTGCCC 0.493 EPCAM 4072 broad.mit.edu 37 2 47607055 47607055 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:47607055A>G uc002rvx.2 + 7 1163 c.805A>G c.(805-807)ATT>GTT p.I269V EPCAM_uc002rvw.2_Missense_Mutation_p.I297V NM_002354 NP_002345 P16422 EPCAM_HUMAN epithelial cell adhesion molecule precursor 269 Helical; (Potential). positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding skin(1) 1 Agctggtgttattgctgttat 0.239 Lynch_syndrome ASB3 51130 broad.mit.edu 37 2 53927628 53927628 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:53927628A>G uc002rxg.1 - 8 1153 c.1018T>C c.(1018-1020)TAT>CAT p.Y340H ASB3_uc002rxh.1_Missense_Mutation_p.Y267H|ASB3_uc002rxi.3_Missense_Mutation_p.Y378H|ASB3_uc002rxf.1_RNA NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 340 ANK 10. intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TGGGCTCCATATTTCAAAAGA 0.348 CCDC85A 114800 broad.mit.edu 37 2 56603069 56603069 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:56603069A>G uc002rzn.2 + 5 2073 c.1571A>G c.(1570-1572)AAG>AGG p.K524R NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 524 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CATTCTCTTAAGGTAACCAAT 0.493 KIAA1841 84542 broad.mit.edu 37 2 61343153 61343153 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:61343153A>G uc002saw.3 + 17 2087 c.1784A>G c.(1783-1785)AAA>AGA p.K595R KIAA1841_uc002sax.3_Missense_Mutation_p.K449R|KIAA1841_uc002say.2_Missense_Mutation_p.K595R NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 595 0 Epithelial(17;0.193) AGACAACCAAAAAAGCAGGTA 0.378 USP34 9736 broad.mit.edu 37 2 61575028 61575028 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:61575028G>A uc002sbe.2 - 15 2284 c.2262C>T c.(2260-2262)CAC>CAT p.H754H NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 754 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) ggtgatggtggtggtggtggt 0.284 FAM161A 84140 broad.mit.edu 37 2 62067454 62067454 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:62067454G>A uc010ypo.1 - 3 787 c.685C>T c.(685-687)CGA>TGA p.R229* FAM161A_uc002sbm.3_Nonsense_Mutation_p.R229*|FAM161A_uc002sbn.3_Nonsense_Mutation_p.R39*|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Nonsense_Mutation_p.R120* NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 229 response to stimulus|visual perception centrosome p.R229W(1) large_intestine(2)|ovary(1) 3 CATTCTTTTCGTTTCTTCCTT 0.373 GKN1 56287 broad.mit.edu 37 2 69204842 69204842 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:69204842A>C uc002sfc.2 + 3 245 c.182A>C c.(181-183)AAT>ACT p.N61T NM_019617 NP_062563 Q9NS71 GKN1_HUMAN 18 kDa antrum mucosa protein precursor 61 digestion|positive regulation of cell division extracellular region breast(1) 1 AATGAACACAATGTGGCCAAT 0.398 CYP26B1 56603 broad.mit.edu 37 2 72371250 72371250 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:72371250C>T uc002sih.1 - 2 297 c.297G>A c.(295-297)GCG>GCA p.A99A CYP26B1_uc010yra.1_Silent_p.A82A|CYP26B1_uc010yrb.1_Intron NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 99 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 GCACGTTCTCCGCGCCGGTCA 0.632 ALMS1 7840 broad.mit.edu 37 2 73677405 73677405 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:73677405C>T uc002sje.1 + 10 3865 c.3754C>T c.(3754-3756)CAG>TAG p.Q1252* ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q1208*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.Q638*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q638* NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1250 16.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTTCTACCAACAGGTCTTGCC 0.478 ALMS1 7840 broad.mit.edu 37 2 73784458 73784458 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:73784458A>G uc002sje.1 + 16 10304 c.10193A>G c.(10192-10194)GAA>GGA p.E3398G ALMS1_uc002sjf.1_Missense_Mutation_p.E3354G|ALMS1_uc002sjg.2_Missense_Mutation_p.E2784G|ALMS1_uc002sjh.1_Missense_Mutation_p.E2784G|ALMS1_uc010fev.1_Missense_Mutation_p.E156G NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3396 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AAAGAAAAAGAATCTTTGCAG 0.413 HTRA2 27429 broad.mit.edu 37 2 74757166 74757166 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:74757166C>T uc002smi.1 + 1 635 c.33C>T c.(31-33)GGC>GGT p.G11G AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.G11G|HTRA2_uc002smk.1_Silent_p.G11G|HTRA2_uc002sml.1_Silent_p.G11G|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 11 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 GGGGTGCAGGCTGGAGCCTTC 0.716 SUCLG1 8802 broad.mit.edu 37 2 84660507 84660507 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:84660507C>T uc002son.2 - 6 835 c.642G>A c.(640-642)ACG>ACA p.T214T SUCLG1_uc010ysk.1_Silent_p.T201T NM_003849 NP_003840 P53597 SUCA_HUMAN succinate-CoA ligase, GDP-forming alpha subunit 214 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity 0 Succinic acid(DB00139) ATCCAACTTGCGTTGTTTGGT 0.378 ST3GAL5 8869 broad.mit.edu 37 2 86075232 86075232 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:86075232G>A uc002sqq.1 - 4 543 c.414C>T c.(412-414)AGC>AGT p.S138S ST3GAL5_uc010fgq.1_Silent_p.S10S|ST3GAL5_uc002sqp.1_Silent_p.S115S NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 138 Lumenal (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 GTAAGTCCACGCTATACCTGT 0.488 SMYD1 150572 broad.mit.edu 37 2 88390622 88390622 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:88390622A>C uc002ssr.2 + 4 622 c.620A>C c.(619-621)GAC>GCC p.D207A SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 207 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 GTGAACCATGACTGTTGGCCC 0.512 PDCL3 79031 broad.mit.edu 37 2 101192940 101192940 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:101192940C>T uc002tao.2 + 6 814 c.702C>T c.(700-702)AGC>AGT p.S234S NM_024065 NP_076970 Q9H2J4 PDCL3_HUMAN phosducin-like 3 234 apoptosis|interspecies interaction between organisms cytoplasm protein binding 0 AGAGGGACAGCGATTCCGAGG 0.463 MAP4K4 9448 broad.mit.edu 37 2 102499030 102499030 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:102499030C>T uc002tbg.2 + 25 3023 c.2968C>T c.(2968-2970)CGT>TGT p.R990C MAP4K4_uc002tbc.2_Missense_Mutation_p.R1071C|MAP4K4_uc002tbd.2_Missense_Mutation_p.R963C|MAP4K4_uc002tbe.2_Missense_Mutation_p.R909C|MAP4K4_uc002tbf.2_Missense_Mutation_p.R1024C|MAP4K4_uc010yvy.1_Missense_Mutation_p.R986C|MAP4K4_uc002tbh.2_Missense_Mutation_p.R908C|MAP4K4_uc002tbi.2_Missense_Mutation_p.R793C|MAP4K4_uc010yvz.1_Missense_Mutation_p.R1030C|MAP4K4_uc002tbk.2_Missense_Mutation_p.R445C|MAP4K4_uc002tbl.2_Missense_Mutation_p.R176C NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 990 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GGATAAGTTACGTGTCTACTA 0.338 GPR45 11250 broad.mit.edu 37 2 105858406 105858406 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:105858406G>A uc002tco.1 + 1 207 c.91G>A c.(91-93)GCA>ACA p.A31T NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 31 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 CCAGTTGCCCGCACCCCTCAG 0.602 GCC2 9648 broad.mit.edu 37 2 109088059 109088059 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:109088059G>A uc002tec.2 + 6 2428 c.2274G>A c.(2272-2274)CAG>CAA p.Q758Q GCC2_uc002ted.2_Silent_p.Q657Q NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 758 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 TTAAAACTCAGTTGTATGGTT 0.338 ANKRD57 65124 broad.mit.edu 37 2 110373584 110373584 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:110373584A>G uc002tfb.2 + 1 1674 c.1518A>G c.(1516-1518)GAA>GAG p.E506E SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank NM_023016 NP_075392 Q53LP3 ANR57_HUMAN ankyrin repeat domain 57 506 0 TGGGGGAGGAACGACCTGTTA 0.498 ACOXL 55289 broad.mit.edu 37 2 111556607 111556607 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:111556607C>T uc002tgr.3 + 7 701 c.477C>T c.(475-477)ATC>ATT p.I159I ACOXL_uc010fkc.2_Silent_p.I159I|ACOXL_uc010yxk.1_Silent_p.I159I NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 159 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 ACTGTTTCATCGTTCCTGTCC 0.468 IL1F8 27177 broad.mit.edu 37 2 113788675 113788675 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:113788675A>G uc002tiq.1 - 3 175 c.71T>C c.(70-72)CTG>CCG p.L24P IL1F8_uc002tir.1_Missense_Mutation_p.L24P NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN interleukin 1 family, member 8 isoform 1 24 immune response extracellular space cytokine activity|interleukin-1 receptor binding ovary(1) 1 ATTTCCACTCAGGACCCACAC 0.468 TFCP2L1 29842 broad.mit.edu 37 2 121992863 121992863 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:121992863C>T uc002tmx.2 - 11 1121 c.1028G>A c.(1027-1029)CGA>CAA p.R343Q TFCP2L1_uc010flr.2_Missense_Mutation_p.R343Q|TFCP2L1_uc010flq.2_5'Flank NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 343 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) CAAATCATCTCGGGACATCTT 0.557 GPR17 2840 broad.mit.edu 37 2 128408876 128408876 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:128408876C>A uc010yzn.1 + 4 1262 c.651C>A c.(649-651)GCC>GCA p.A217A LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.A217A|GPR17_uc010yzo.1_Silent_p.A189A|GPR17_uc002tpd.2_Silent_p.A189A NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 217 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) GGGAGAAGGCCTCCCACCATG 0.667 TUBA3D 113457 broad.mit.edu 37 2 132240222 132240222 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:132240222C>T uc002tsu.3 + 5 1261 c.1154C>T c.(1153-1155)GCG>GTG p.A385V NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 385 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) ACGGCCATTGCGGAGGCCTGG 0.632 ZRANB3 84083 broad.mit.edu 37 2 136107605 136107605 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:136107605G>A uc002tum.2 - 5 657 c.540C>T c.(538-540)GCC>GCT p.A180A ZRANB3_uc002tuk.2_5'UTR|ZRANB3_uc002tul.2_Silent_p.A180A|ZRANB3_uc002tun.1_Silent_p.A120A NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 180 Helicase ATP-binding. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) TGGCTCGTCTGGCTTTCTGTA 0.408 GTDC1 79712 broad.mit.edu 37 2 144966324 144966324 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:144966324A>G uc002tvp.2 - 4 304 c.25T>C c.(25-27)TTC>CTC p.F9L GTDC1_uc002tvo.2_Missense_Mutation_p.F9L|GTDC1_uc002tvq.2_Missense_Mutation_p.F9L|GTDC1_uc002tvr.2_Missense_Mutation_p.F9L|GTDC1_uc010fnn.2_Missense_Mutation_p.F9L|GTDC1_uc002tvs.2_5'UTR|GTDC1_uc010fno.2_Intron|GTDC1_uc002tvt.1_Missense_Mutation_p.F9L NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 9 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) CCTCCATAGAATGCTTCAATG 0.378 TNFAIP6 7130 broad.mit.edu 37 2 152220548 152220548 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:152220548C>T uc002txk.2 + 2 262 c.186C>T c.(184-186)GGC>GGT p.G62G NM_007115 NP_009046 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 62 Link. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) AATTTGAAGGCGGCCATCTCG 0.448 FAP 2191 broad.mit.edu 37 2 163030235 163030235 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:163030235T>C uc002ucd.2 - 23 2240 c.2032A>G c.(2032-2034)AAG>GAG p.K678E FAP_uc010fpc.2_Missense_Mutation_p.K227E|FAP_uc010zct.1_Missense_Mutation_p.K653E|FAP_uc010fpd.2_Missense_Mutation_p.K157E NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 678 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 ACACTTACCTTATAGTGCTCA 0.318 IFIH1 64135 broad.mit.edu 37 2 163163274 163163274 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:163163274C>A uc002uce.2 - 3 936 c.714G>T c.(712-714)TGG>TGT p.W238C NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 238 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 TCTCCATGCCCCAGACCTCCT 0.388 CSRNP3 80034 broad.mit.edu 37 2 166536038 166536038 + Silent SNP C C T rs144711438 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:166536038C>T uc002udf.2 + 7 1909 c.1533C>T c.(1531-1533)AGC>AGT p.S511S CSRNP3_uc002udg.2_Silent_p.S511S NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 511 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 AAAATGATAGCGGTGTGCCCT 0.502 SCN1A 6323 broad.mit.edu 37 2 166859173 166859173 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:166859173C>A uc010zcz.1 - 21 4078 c.4060G>T c.(4060-4062)GGC>TGC p.G1354C SCN1A_uc002udo.3_Missense_Mutation_p.G1234C|SCN1A_uc010fpk.2_Missense_Mutation_p.G1206C NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1365 III.|Helical; Name=S5 of repeat III; (By similarity). 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) AAATTTACGCCCATGATGCTG 0.393 NOSTRIN 115677 broad.mit.edu 37 2 169707788 169707788 + Splice_Site SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:169707788G>A uc002ueg.2 + 10 734 c.730_splice c.e10-1 p.C244_splice NOSTRIN_uc002uef.2_Splice_Site_p.C301_splice|NOSTRIN_uc002uei.2_Splice_Site_p.C127_splice|NOSTRIN_uc010fpu.2_Splice_Site_p.C216_splice|NOSTRIN_uc002ueh.2_Splice_Site_p.C166_splice|NOSTRIN_uc002uej.2_Splice_Site_p.C127_splice NM_001039724 NP_001034813 Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficker isoform 2 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding 0 TGGCATTGCAGTGCCACACGC 0.428 TLK1 9874 broad.mit.edu 37 2 171850351 171850351 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:171850351A>G uc002ugn.2 - 21 2712 c.2240T>C c.(2239-2241)CTA>CCA p.L747P TLK1_uc002ugo.2_Missense_Mutation_p.L768P|TLK1_uc002ugp.2_Missense_Mutation_p.L699P|TLK1_uc010zdn.1_Missense_Mutation_p.L651P NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 747 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 AGCCATGTGTAGGTTTCCTGA 0.433 KIAA1715 80856 broad.mit.edu 37 2 176857040 176857040 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:176857040A>G uc002ukc.1 - 4 369 c.176T>C c.(175-177)TTA>TCA p.L59S KIAA1715_uc010zer.1_Missense_Mutation_p.L59S|KIAA1715_uc010fqw.1_Missense_Mutation_p.L125S|KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 59 Helical; (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) ATATACAATTAAGCATGTAAA 0.313 EVX2 344191 broad.mit.edu 37 2 176947015 176947015 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:176947015C>T uc010zeu.1 - 2 776 c.590G>A c.(589-591)CGC>CAC p.R197H NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 197 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GATCTGCTCGCGGGTGAACGC 0.711 HOXD12 3238 broad.mit.edu 37 2 176964686 176964686 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:176964686G>A uc010zev.1 + 1 157 c.157G>A c.(157-159)GCC>ACC p.A53T HOXD12_uc010zew.1_Missense_Mutation_p.A53T NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 53 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) GCCCTGGGCCGCCACGCCCGC 0.731 RBM45 129831 broad.mit.edu 37 2 178982857 178982857 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:178982857C>T uc002ulv.2 + 3 591 c.499C>T c.(499-501)CGA>TGA p.R167* NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 167 RRM 2. cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) GGGCTACGTACGATACTTAAA 0.333 TTN 7273 broad.mit.edu 37 2 179408762 179408762 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:179408762A>G uc010zfg.1 - 295 88629 c.88405T>C c.(88405-88407)TCT>CCT p.S29469P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S23164P|TTN_uc010zfi.1_Missense_Mutation_p.S23097P|TTN_uc010zfj.1_Missense_Mutation_p.S22972P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30396 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) CCAGATACAGACACCATCAAG 0.483 TTN 7273 broad.mit.edu 37 2 179414547 179414547 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:179414547C>A uc010zfg.1 - 287 84422 c.84198G>T c.(84196-84198)GGG>GGT p.G28066G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G21761G|TTN_uc010zfi.1_Silent_p.G21694G|TTN_uc010zfj.1_Silent_p.G21569G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28993 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) TCATCTTCTCCCCAGTAATAT 0.423 TTN 7273 broad.mit.edu 37 2 179422678 179422678 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:179422678G>A uc010zfg.1 - 277 79923 c.79699C>T c.(79699-79701)CTA>TTA p.L26567L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20262L|TTN_uc010zfi.1_Silent_p.L20195L|TTN_uc010zfj.1_Silent_p.L20070L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27494 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) GGCCTGTCTAGCACAACAATG 0.448 TTN 7273 broad.mit.edu 37 2 179449206 179449206 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:179449206A>G uc010zfg.1 - 260 57592 c.57368T>C c.(57367-57369)ATT>ACT p.I19123T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I12818T|TTN_uc010zfi.1_Missense_Mutation_p.I12751T|TTN_uc010zfj.1_Missense_Mutation_p.I12626T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20050 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) ATAACCAATAATGGGGCTCCC 0.453 TTN 7273 broad.mit.edu 37 2 179463686 179463686 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:179463686T>C uc010zfg.1 - 240 49271 c.49047A>G c.(49045-49047)ACA>ACG p.T16349T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T10044T|TTN_uc010zfi.1_Silent_p.T9977T|TTN_uc010zfj.1_Silent_p.T9852T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17276 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) GCCAGTACCCTGTCACAGGAG 0.463 TTN 7273 broad.mit.edu 37 2 179579734 179579734 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:179579734C>G uc010zfg.1 - 87 22671 c.22447G>C c.(22447-22449)GTT>CTT p.V7483L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4144L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8410 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) ATGGAACCAACGCAAGTGTCG 0.478 TTN 7273 broad.mit.edu 37 2 179632855 179632855 + Missense_Mutation SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:179632855A>T uc010zfg.1 - 39 9415 c.9191T>A c.(9190-9192)ATT>AAT p.I3064N TTN_uc010zfh.1_Missense_Mutation_p.I3018N|TTN_uc010zfi.1_Missense_Mutation_p.I3018N|TTN_uc010zfj.1_Missense_Mutation_p.I3018N|TTN_uc002unb.2_Missense_Mutation_p.I3064N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3064 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) AATGTCCTTAATGTGTTTCCT 0.299 TTN 7273 broad.mit.edu 37 2 179641015 179641015 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:179641015C>A uc010zfg.1 - 28 5800 c.5576G>T c.(5575-5577)AGG>ATG p.R1859M TTN_uc010zfh.1_Missense_Mutation_p.R1813M|TTN_uc010zfi.1_Missense_Mutation_p.R1813M|TTN_uc010zfj.1_Missense_Mutation_p.R1813M|TTN_uc002unb.2_Missense_Mutation_p.R1859M|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1859 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) GCAGCGGAACCTTGCAGTCTC 0.483 PDE1A 5136 broad.mit.edu 37 2 183387016 183387016 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:183387016G>A uc002uos.2 - 2 172 c.88C>T c.(88-90)CGC>TGC p.R30C PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R30C|PDE1A_uc010zfq.1_Missense_Mutation_p.R30C|PDE1A_uc002uov.1_RNA NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 30 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) CCTTTCAGGCGCTGCCACATT 0.418 ZNF804A 91752 broad.mit.edu 37 2 185802311 185802311 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:185802311T>A uc002uph.2 + 4 2782 c.2188T>A c.(2188-2190)TCA>ACA p.S730T NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 730 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AACCAAAATGTCAAGCTGTAG 0.328 CALCRL 10203 broad.mit.edu 37 2 188225351 188225351 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:188225351A>G uc002upv.3 - 10 1303 c.755T>C c.(754-756)TTA>TCA p.L252S CALCRL_uc010frt.2_Missense_Mutation_p.L252S NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 252 Cytoplasmic (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) ATACCACATTAAATGTTGCTT 0.403 ANKAR 150709 broad.mit.edu 37 2 190554311 190554311 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:190554311T>C uc002uqw.1 + 2 447 c.447T>C c.(445-447)AAT>AAC p.N149N ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqv.1_Silent_p.N220N NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 220 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AAGACGTGAATGAAGATCCAA 0.308 PMS1 5378 broad.mit.edu 37 2 190732552 190732552 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:190732552C>T uc002urh.3 + 11 2899 c.2370C>T c.(2368-2370)GAC>GAT p.D790D PMS1_uc002urk.3_Silent_p.D751D|PMS1_uc002uri.3_Silent_p.D628D|PMS1_uc010zgc.1_Silent_p.D614D|PMS1_uc010zgd.1_Silent_p.D614D|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.D413D|PMS1_uc002urm.2_RNA NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 790 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) ATTATTTAGACGTTTTATATA 0.328 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR MYO1B 4430 broad.mit.edu 37 2 192265122 192265122 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:192265122G>A uc010fsg.2 + 22 2565 c.2310G>A c.(2308-2310)CTG>CTA p.L770L MYO1B_uc002usq.2_Silent_p.L770L|MYO1B_uc002usr.2_Silent_p.L770L|MYO1B_uc002usu.2_Silent_p.L44L|MYO1B_uc002usv.2_5'Flank NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 770 IQ 3. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GAAAAATTCTGCGGGAACTGA 0.458 DNAH7 56171 broad.mit.edu 37 2 196664111 196664111 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:196664111A>G uc002utj.3 - 55 10363 c.10262T>C c.(10261-10263)TTT>TCT p.F3421S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3421 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ACTGTCTCCAAATGCCTTGGC 0.453 HECW2 57520 broad.mit.edu 37 2 197172692 197172692 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:197172692T>G uc002utm.1 - 11 2735 c.2552A>C c.(2551-2553)AAC>ACC p.N851T HECW2_uc002utl.1_Missense_Mutation_p.N495T NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 851 Interaction with TP73.|Potential. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CTGTATGGAGTTAGATCTCTG 0.527 GTF3C3 9330 broad.mit.edu 37 2 197664327 197664327 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:197664327C>T uc002uts.2 - 1 99 c.9G>A c.(7-9)GGG>GGA p.G3G GTF3C3_uc010zgu.1_Silent_p.G3G|GTF3C3_uc002utu.2_Silent_p.G3G NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3 transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 CCGGACTGAACCCTGACATGT 0.557 C2orf69 205327 broad.mit.edu 37 2 200789806 200789806 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:200789806C>T uc010zhb.1 + 2 538 c.355C>T c.(355-357)CGT>TGT p.R119C NM_153689 NP_710156 Q8N8R5 CB069_HUMAN hypothetical protein LOC205327 precursor 119 extracellular region central_nervous_system(1) 1 AATTATGACTCGTCATCCTGA 0.308 TRAK2 66008 broad.mit.edu 37 2 202257733 202257733 + Nonsense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:202257733C>A uc002uyb.3 - 10 1458 c.1012G>T c.(1012-1014)GGA>TGA p.G338* NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 338 Potential. Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding 0 TGTAACATTCCTAGACACTCC 0.403 BMPR2 659 broad.mit.edu 37 2 203329559 203329559 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:203329559C>T uc002uzf.3 + 2 1252 c.104C>T c.(103-105)GCG>GTG p.A35V BMPR2_uc010ftr.2_Missense_Mutation_p.A35V|BMPR2_uc002uze.2_Missense_Mutation_p.A35V NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 35 Extracellular (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 CGGCTATGTGCGTTTAAAGAT 0.333 PARD3B 117583 broad.mit.edu 37 2 205989106 205989106 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:205989106C>T uc002var.1 + 9 1428 c.1221C>T c.(1219-1221)CCC>CCT p.P407P PARD3B_uc010fub.1_Silent_p.P407P|PARD3B_uc002vao.1_Silent_p.P407P|PARD3B_uc002vap.1_Silent_p.P407P|PARD3B_uc002vaq.1_Silent_p.P407P NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 407 PDZ 2. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TACATGGTCCCGGTCCCATTT 0.413 NDUFS1 4719 broad.mit.edu 37 2 207008772 207008772 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:207008772C>A uc002vbe.2 - 10 1084 c.957G>T c.(955-957)TGG>TGT p.W319C NDUFS1_uc010ziq.1_Missense_Mutation_p.W333C|NDUFS1_uc010zir.1_Missense_Mutation_p.W283C|NDUFS1_uc010zis.1_Missense_Mutation_p.W262C|NDUFS1_uc010zit.1_Missense_Mutation_p.W208C|NDUFS1_uc010ziu.1_Missense_Mutation_p.W203C NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 319 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) GCGCATCCTCCCAAGAAGTAT 0.383 LANCL1 10314 broad.mit.edu 37 2 211305366 211305366 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:211305366C>T uc010zjh.1 - 6 721 c.646G>A c.(646-648)GGG>AGG p.G216R LANCL1_uc002ved.2_Missense_Mutation_p.G216R|LANCL1_uc010fuq.2_Missense_Mutation_p.G216R NM_001136574 NP_001130046 O43813 LANC1_HUMAN lanthionine synthetase C-like protein 1 216 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding 0 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) TGAGCAGCCCCTACATAATAT 0.408 SPAG16 79582 broad.mit.edu 37 2 214204980 214204980 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:214204980T>C uc002veq.2 + 6 722 c.630T>C c.(628-630)ATT>ATC p.I210I SPAG16_uc010fuz.1_Silent_p.I61I|SPAG16_uc002ver.2_Silent_p.I156I|SPAG16_uc010zjk.1_Silent_p.I116I|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.I179I NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 210 Potential. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) ACAAATTAATTAATGACCTCA 0.289 IGFBP2 3485 broad.mit.edu 37 2 217528681 217528681 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:217528681G>A uc010zjt.1 + 6 961 c.811G>A c.(811-813)GGG>AGG p.G271R IGFBP2_uc010zju.1_3'UTR NM_000597 NP_000588 P18065 IBP2_HUMAN insulin-like growth factor binding protein 2, 278 Thyroglobulin type-1. positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway extracellular space insulin-like growth factor I binding|insulin-like growth factor II binding 0 Renal(323;0.0458) Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968) GTCTCTGAACGGGCAGCGTGG 0.617 RUFY4 285180 broad.mit.edu 37 2 218940176 218940176 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:218940176C>T uc002vgw.2 + 10 2286 c.442C>T c.(442-444)CTG>TTG p.L148L RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Silent_p.L148L NM_198483 NP_940885 Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 321 metal ion binding pancreas(1) 1 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGGGTTCTGCTGGTTGCAGA 0.602 CTDSP1 58190 broad.mit.edu 37 2 219268006 219268006 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:219268006C>T uc002vhy.2 + 6 859 c.523C>T c.(523-525)CGG>TGG p.R175W CTDSP1_uc002vhx.2_Missense_Mutation_p.R174W|CTDSP1_uc002vhz.2_Missense_Mutation_p.R34W NM_021198 NP_067021 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 175 FCP1 homology. protein dephosphorylation|regulation of transcription from RNA polymerase II promoter nucleus CTD phosphatase activity|metal ion binding|protein binding ovary(1) 1 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTCCGGGCCCGGCTGTTTCG 0.642 ZNF142 7701 broad.mit.edu 37 2 219508772 219508772 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:219508772G>A uc002vin.2 - 8 2903 c.2467C>T c.(2467-2469)CGG>TGG p.R823W ZNF142_uc002vil.2_Missense_Mutation_p.R784W|ZNF142_uc010fvt.2_Missense_Mutation_p.R660W|ZNF142_uc002vim.2_Missense_Mutation_p.R660W NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 823 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) ATCTGCACCCGCCCCTCTAGC 0.577 RNF25 64320 broad.mit.edu 37 2 219529239 219529239 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:219529239G>T uc002vit.2 - 10 909 c.821C>A c.(820-822)CCT>CAT p.P274H RNF25_uc010fvw.2_Missense_Mutation_p.P162H NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 274 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGACTCAGGTTCCGCAGG 0.552 SPEG 10290 broad.mit.edu 37 2 220348728 220348728 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:220348728C>T uc010fwg.2 + 30 6543 c.6543C>T c.(6541-6543)CCC>CCT p.P2181P NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2181 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTGCACGGCCCAGCGCCCCCA 0.657 PAX3 5077 broad.mit.edu 37 2 223158932 223158932 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:223158932G>A uc010fwo.2 - 4 906 c.540C>T c.(538-540)AGC>AGT p.S180S PAX3_uc002vmt.1_Silent_p.S180S|PAX3_uc002vmy.1_Silent_p.S179S|PAX3_uc002vmv.1_Silent_p.S180S|PAX3_uc002vmw.1_Silent_p.S180S|PAX3_uc002vmx.1_Silent_p.S180S|PAX3_uc002vmz.1_Silent_p.S180S|PAX3_uc002vna.1_Silent_p.S180S NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 180 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTTCTTCTCGCTTTCCTCTG 0.607 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome TRIP12 9320 broad.mit.edu 37 2 230638845 230638845 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:230638845C>T uc002vpw.1 - 37 5546 c.5437G>A c.(5437-5439)GTC>ATC p.V1813I TRIP12_uc002vpx.1_Missense_Mutation_p.V1861I|TRIP12_uc002vpy.1_Missense_Mutation_p.V1543I NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1813 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGGATAGTGACTGGTATATCC 0.453 ECEL1 9427 broad.mit.edu 37 2 233350722 233350722 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:233350722G>A uc002vsv.2 - 2 847 c.642C>T c.(640-642)GGC>GGT p.G214G ECEL1_uc010fya.1_Silent_p.G214G|ECEL1_uc010fyb.1_5'UTR NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 214 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCTCCGCGCCGCCCAGGTCCC 0.711 AGAP1 116987 broad.mit.edu 37 2 236957834 236957834 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:236957834A>G uc002vvs.2 + 16 2618 c.2023A>G c.(2023-2025)AAG>GAG p.K675E AGAP1_uc002vvt.2_Missense_Mutation_p.K622E NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 675 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 CGAGCTCATCAAGGTGATGTC 0.572 UBE2F 140739 broad.mit.edu 37 2 238944574 238944574 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:238944574G>A uc002vxk.2 + 9 591 c.500G>A c.(499-501)CGG>CAG p.R167Q UBE2F_uc010znn.1_Missense_Mutation_p.R135Q|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_3'UTR|SCLY_uc002vxm.3_5'UTR NM_080678 NP_542409 Q969M7 UBE2F_HUMAN NEDD8-conjugating enzyme 167 protein neddylation ATP binding|NEDD8 ligase activity|protein binding 0 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) CATCATTTGCGGGACAAGGTG 0.368 GPC1 2817 broad.mit.edu 37 2 241401875 241401875 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:241401875C>T uc002vyw.3 + 3 814 c.593C>T c.(592-594)GCG>GTG p.A198V NM_002081 NP_002072 P35052 GPC1_HUMAN glypican 1 precursor 198 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) CAGGCCGAGGCGCTGCGGCCC 0.711 KIF1A 547 broad.mit.edu 37 2 241679772 241679772 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:241679772C>T uc002vzy.2 - 34 3602 c.3456G>A c.(3454-3456)CCG>CCA p.P1152P KIF1A_uc010fzk.2_Silent_p.P1253P|KIF1A_uc002vzz.1_Silent_p.P1253P NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 1152 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) CCACCACGGCCGGGATGTAAC 0.652 PPP1R7 5510 broad.mit.edu 37 2 242105795 242105795 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:242105795A>G uc002wat.1 + 8 773 c.758A>G c.(757-759)AAC>AGC p.N253S PPP1R7_uc010fzm.1_Missense_Mutation_p.N237S|PPP1R7_uc002war.2_Missense_Mutation_p.N247S|PPP1R7_uc002was.2_Missense_Mutation_p.N253S|PPP1R7_uc002wau.1_Missense_Mutation_p.N210S|PPP1R7_uc002wav.1_Missense_Mutation_p.N179S NM_002712 NP_002703 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 253 LRR 9. cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity ovary(3) 3 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) AACCTGGTGAACCTGCGGGAG 0.552 HDLBP 3069 broad.mit.edu 37 2 242179413 242179413 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:242179413G>A uc002waz.2 - 18 2522 c.2294C>T c.(2293-2295)GCG>GTG p.A765V HDLBP_uc002wba.2_Missense_Mutation_p.A765V|HDLBP_uc002wbb.2_Missense_Mutation_p.A717V NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 765 KH 9. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GTCCTCAGCCGCAGGGAAGAT 0.577 HDLBP 3069 broad.mit.edu 37 2 242203935 242203935 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:242203935C>A uc002waz.2 - 4 390 c.162G>T c.(160-162)CTG>CTT p.L54L HDLBP_uc002wba.2_Silent_p.L54L|HDLBP_uc002wbb.2_Silent_p.L75L|HDLBP_uc010fzn.1_5'UTR|uc010zoo.1_5'Flank NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 54 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GGGCACTTTCCAGGCAAGCAG 0.507 CSNK2A1 1457 broad.mit.edu 37 20 472991 472991 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:472991C>A uc002wdw.1 - 9 921 c.528G>T c.(526-528)TGG>TGT p.W176C CSNK2A1_uc002wdx.1_Missense_Mutation_p.W176C|CSNK2A1_uc002wdy.1_Missense_Mutation_p.W40C NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 176 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) CAGCCAAACCCCAGTCTATTA 0.393 C20orf54 113278 broad.mit.edu 37 20 745873 745873 + Silent SNP C C T rs139965967 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:745873C>T uc002wed.3 - 2 885 c.546G>A c.(544-546)ACG>ACA p.T182T C20orf54_uc002wee.2_Silent_p.T182T NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 182 sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 CAGTCTCCCTCGTGGGTACAG 0.493 VPS16 64601 broad.mit.edu 37 20 2840753 2840753 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:2840753C>A uc002whe.2 + 3 244 c.196C>A c.(196-198)CTC>ATC p.L66I VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.L66I|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 66 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 GAGGCCAGTGCTCGATATATA 0.592 PTPRA 5786 broad.mit.edu 37 20 2969091 2969091 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:2969091G>A uc010zqd.1 + 8 1059 c.742G>A c.(742-744)GAC>AAC p.D248N PTPRA_uc002whj.2_Missense_Mutation_p.D237N|PTPRA_uc010zqc.1_Missense_Mutation_p.D122N|PTPRA_uc002whk.2_Missense_Mutation_p.D228N|PTPRA_uc002whl.2_Missense_Mutation_p.D228N|PTPRA_uc002whm.2_Missense_Mutation_p.D4N|PTPRA_uc002whn.2_Missense_Mutation_p.D228N|PTPRA_uc002who.2_5'UTR NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 237 Cytoplasmic (Potential). axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 AATGGCAGACGACAATAAGCT 0.507 MAVS 57506 broad.mit.edu 37 20 3838363 3838363 + Missense_Mutation SNP G G A rs142867936 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:3838363G>A uc002wjw.3 + 3 368 c.199G>A c.(199-201)GGC>AGC p.G67S MAVS_uc002wjv.2_Missense_Mutation_p.G67S|MAVS_uc010zqn.1_Missense_Mutation_p.G67S|MAVS_uc002wjx.3_Intron|MAVS_uc002wjy.3_5'UTR NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter 67 Cytoplasmic (Probable).|Required for interaction with NLRX1.|CARD. GWV->AAA: Impairs ability to induce IFN- beta. activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 GCGGCGGCCCGGCTGGGTGGA 0.612 PRNP 5621 broad.mit.edu 37 20 4680115 4680115 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:4680115G>A uc002wku.2 + 2 612 c.249G>A c.(247-249)CAG>CAA p.Q83Q PRNP_uc002wkv.2_Silent_p.Q83Q|PRNP_uc002wkw.2_Silent_p.Q83Q|PRNP_uc002wkx.2_Silent_p.Q83Q|PRNP_uc002wkt.1_Silent_p.Q83Q|PRNP_uc002wky.2_Silent_p.Q83Q|PRNP_uc010gbe.1_Silent_p.Q83Q NM_001080122 NP_001073591 P04156 PRIO_HUMAN prion protein preproprotein 83 Interaction with GRB2, ERI3 and SYN1 (By similarity).|5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|4. axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(1) 1 Tetracycline(DB00759) GCTGGGGACAGCCTCATGGTG 0.647 PRND 23627 broad.mit.edu 37 20 4705306 4705306 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:4705306C>T uc002wkz.2 + 2 180 c.109C>T c.(109-111)CGG>TGG p.R37W NM_012409 NP_036541 Q9UKY0 PRND_HUMAN prion-like protein doppel preproprotein 37 Flexible tail. protein homooligomerization anchored to membrane|plasma membrane 0 CAAGTGGAACCGGAAGGCCCT 0.617 GPCPD1 56261 broad.mit.edu 37 20 5579450 5579450 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:5579450A>G uc002wme.3 - 3 280 c.67T>C c.(67-69)TGT>CGT p.C23R NM_019593 NP_062539 Q9NPB8 GPCP1_HUMAN hypothetical protein LOC56261 23 CBM20. glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity 0 CAGCTTCCACATATCGCAAAA 0.423 PLCB4 5332 broad.mit.edu 37 20 9438112 9438112 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:9438112G>A uc002wnf.2 + 32 3148 c.3012G>A c.(3010-3012)ACG>ACA p.T1004T PLCB4_uc010gbw.1_Silent_p.T1004T|PLCB4_uc010gbx.2_Silent_p.T1016T|PLCB4_uc002wne.2_Silent_p.T1004T|PLCB4_uc002wnh.2_Silent_p.T851T NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 1004 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 AAATTCAGACGCTGACATCAG 0.348 TASP1 55617 broad.mit.edu 37 20 13463963 13463963 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:13463963C>T uc002woi.2 - 11 1013 c.896G>A c.(895-897)CGC>CAC p.R299H TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.R276H|TASP1_uc010zrj.1_RNA NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 299 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 CAGTATGGTGCGCACAAGATG 0.433 HM13 81502 broad.mit.edu 37 20 30126018 30126018 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:30126018A>G uc002wwe.2 + 3 433 c.319A>G c.(319-321)ATG>GTG p.M107V HM13_uc002wwc.2_Missense_Mutation_p.M107V|HM13_uc002wwd.2_Missense_Mutation_p.M107V|HM13_uc002wwb.1_Missense_Mutation_p.M107V NM_030789 NP_110416 Q8TCT9 HM13_HUMAN minor histocompatibility antigen 13 isoform 1 107 Helical; (Potential). membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1) 1 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) CCTGCTGTCCATGTATTTCTT 0.473 TTLL9 164395 broad.mit.edu 37 20 30521638 30521638 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:30521638T>C uc010gdx.1 + 11 1037 c.784T>C c.(784-786)TCT>CCT p.S262P TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.S164P|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 262 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCAAAAAACATCTCCCGACTA 0.607 KIF3B 9371 broad.mit.edu 37 20 30904022 30904022 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:30904022C>T uc002wxq.2 + 3 1573 c.1406C>T c.(1405-1407)GCC>GTC p.A469V KIF3B_uc010ztw.1_Missense_Mutation_p.A407V NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 469 Potential. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTCACTCAGGCCATGGAGAGT 0.428 ZNF341 84905 broad.mit.edu 37 20 32332958 32332958 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:32332958G>A uc002wzy.2 + 3 212 c.192G>A c.(190-192)TCG>TCA p.S64S ZNF341_uc002wzx.2_Silent_p.S64S|ZNF341_uc010geq.2_Intron|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 64 C2H2-type 1; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AATTCAACTCGCTGCCAGCGT 0.562 NCOA6 23054 broad.mit.edu 37 20 33342667 33342667 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:33342667C>T uc002xav.2 - 9 4104 c.1533G>A c.(1531-1533)ATG>ATA p.M511I NCOA6_uc002xaw.2_Missense_Mutation_p.M511I NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 511 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 GGCGTTTAGGCATTCCTTAAT 0.463 CPNE1 8904 broad.mit.edu 37 20 34218826 34218826 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:34218826T>C uc002xdf.2 - 13 1355 c.992A>G c.(991-993)GAC>GGC p.D331G CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.D336G|CPNE1_uc002xde.2_Missense_Mutation_p.D307G|CPNE1_uc002xdg.2_Missense_Mutation_p.D331G|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.D331G|CPNE1_uc002xdi.2_Missense_Mutation_p.D331G|CPNE1_uc002xdj.2_Missense_Mutation_p.D331G|CPNE1_uc002xdk.2_Missense_Mutation_p.D331G|CPNE1_uc002xdl.2_Missense_Mutation_p.D331G|CPNE1_uc002xdm.2_Missense_Mutation_p.D331G|CPNE1_uc010gfk.1_3'UTR NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 331 VWFA. 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) TACTCACGAGTCATAGTCCTG 0.562 C20orf117 140710 broad.mit.edu 37 20 35433186 35433186 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:35433186C>A uc002xgd.1 - 10 2652 c.2325G>T c.(2323-2325)AAG>AAT p.K775N C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 775 0 Myeloproliferative disorder(115;0.00874) CCCAGGTAGCCTTGGCCTTGG 0.617 RPRD1B 58490 broad.mit.edu 37 20 36686021 36686021 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:36686021A>G uc002xho.3 + 4 905 c.503A>G c.(502-504)CAG>CGG p.Q168R NM_021215 NP_067038 Q9NQG5 RPR1B_HUMAN Regulation of nuclear pre-mRNA domain containing 168 pancreas(1) 1 TACTCTCCTCAGGATCCTTCT 0.493 OREG0025919 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC32A1 140679 broad.mit.edu 37 20 37356284 37356284 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:37356284T>G uc002xjc.2 + 2 843 c.580T>G c.(580-582)TGC>GGC p.C194G NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 194 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CAACGCCTGCTGCGCCCCGCG 0.632 CHD6 84181 broad.mit.edu 37 20 40102126 40102126 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:40102126G>A uc002xka.1 - 17 2678 c.2500C>T c.(2500-2502)CGG>TGG p.R834W CHD6_uc002xkd.2_Missense_Mutation_p.R812W NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 834 Helicase C-terminal. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) AGGTTTCCCCGTACTCGCCCA 0.532 PTPRT 11122 broad.mit.edu 37 20 40713354 40713354 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:40713354G>A uc002xkg.2 - 29 4288 c.4104C>T c.(4102-4104)GAC>GAT p.D1368D PTPRT_uc010ggj.2_Silent_p.D1387D|PTPRT_uc010ggi.2_Silent_p.D571D NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1368 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCTCCCTCCCGTCATACTGCT 0.602 PTPRT 11122 broad.mit.edu 37 20 40747077 40747077 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:40747077A>G uc002xkg.2 - 21 3132 c.2948T>C c.(2947-2949)ATC>ACC p.I983T PTPRT_uc010ggj.2_Missense_Mutation_p.I1002T|PTPRT_uc010ggi.2_Missense_Mutation_p.I186T NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 983 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GACCATGACGATGCTGGCGGA 0.517 WISP2 8839 broad.mit.edu 37 20 43355865 43355865 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:43355865C>T uc002xmn.2 + 5 1023 c.670C>T c.(670-672)CGA>TGA p.R224* uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Nonsense_Mutation_p.R224*|WISP2_uc002xmq.2_Silent_p.A141A NM_003881 NP_003872 O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 224 TSP type-1. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) CCGCTTCTGCCGACTGGAGAC 0.677 PABPC1L 80336 broad.mit.edu 37 20 43566708 43566708 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:43566708G>A uc010ggv.1 + 13 1734 c.1652G>A c.(1651-1653)CGT>CAT p.R551H PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_Missense_Mutation_p.R105H|PABPC1L_uc002xmx.2_Missense_Mutation_p.R105H NM_001124756 NP_001118228 Q4VXU2 PAP1L_HUMAN poly(A)-binding protein, cytoplasmic 1-like 551 PABC. nucleotide binding|RNA binding ovary(1) 1 ACAGGGGAGCGTCTCTACCCC 0.577 KCNS1 3787 broad.mit.edu 37 20 43727255 43727255 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:43727255C>T uc002xnc.2 - 4 555 c.158G>A c.(157-159)CGC>CAC p.R53H KCNS1_uc002xnd.2_Missense_Mutation_p.R53H NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 53 Cytoplasmic (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) CACGTTCACGCGCAGCGCCTC 0.751 SLC2A10 81031 broad.mit.edu 37 20 45354636 45354636 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:45354636G>A uc002xsl.2 + 2 1058 c.961G>A c.(961-963)GTG>ATG p.V321M NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 321 Extracellular (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CAGCTTTGCCGTGCCCATGGA 0.657 NCOA3 8202 broad.mit.edu 37 20 46251037 46251037 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:46251037C>T uc002xtk.2 + 3 251 c.46C>T c.(46-48)CGA>TGA p.R16* NCOA3_uc010ght.1_Nonsense_Mutation_p.R16*|NCOA3_uc002xtl.2_Nonsense_Mutation_p.R16*|NCOA3_uc002xtm.2_Nonsense_Mutation_p.R16*|NCOA3_uc002xtn.2_Nonsense_Mutation_p.R16* NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 16 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 CAGTGATTCACGAAAACGCAA 0.383 ARFGEF2 10564 broad.mit.edu 37 20 47630223 47630223 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:47630223A>G uc002xtx.3 + 29 4193 c.4041A>G c.(4039-4041)GTA>GTG p.V1347V ARFGEF2_uc010zyf.1_Silent_p.V640V NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1347 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGTTAGATGTACGAACAAGGT 0.488 ZNFX1 57169 broad.mit.edu 37 20 47886982 47886982 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:47886982A>G uc002xui.2 - 3 1614 c.1367T>C c.(1366-1368)ATG>ACG p.M456T NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 456 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTCCTTGGACATGCATACCAA 0.458 NFATC2 4773 broad.mit.edu 37 20 50133480 50133480 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:50133480G>A uc002xwd.2 - 3 1395 c.1175C>T c.(1174-1176)GCA>GTA p.A392V NFATC2_uc002xwc.2_Missense_Mutation_p.A392V|NFATC2_uc010zyv.1_Missense_Mutation_p.A173V|NFATC2_uc010zyw.1_Missense_Mutation_p.A173V|NFATC2_uc010zyx.1_Missense_Mutation_p.A372V|NFATC2_uc010zyy.1_Missense_Mutation_p.A173V|NFATC2_uc010zyz.1_Missense_Mutation_p.A173V|NFATC2_uc002xwe.2_Missense_Mutation_p.A372V NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 392 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) AGGGAGGGATGCAGTCACTGG 0.493 ZFP64 55734 broad.mit.edu 37 20 50769032 50769032 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:50769032G>A uc002xwl.2 - 6 2048 c.1699C>T c.(1699-1701)CCG>TCG p.P567S ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.P565S|ZFP64_uc002xwn.2_Missense_Mutation_p.P513S NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 AGGACAGCCGGCTGGGTCATT 0.682 ZFP64 55734 broad.mit.edu 37 20 50769441 50769441 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:50769441G>A uc002xwl.2 - 6 1639 c.1290C>T c.(1288-1290)TGC>TGT p.C430C ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.C428C|ZFP64_uc002xwn.2_Silent_p.C376C NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 430 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 AGGAGGCATCGCATATATCGC 0.562 BCAS1 8537 broad.mit.edu 37 20 52645024 52645024 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:52645024G>A uc002xws.2 - 4 968 c.630C>T c.(628-630)GAC>GAT p.D210D BCAS1_uc010zzb.1_Silent_p.D113D|BCAS1_uc010gim.2_Silent_p.D113D|BCAS1_uc002xwt.2_Silent_p.D210D|BCAS1_uc010gil.1_Silent_p.D210D|BCAS1_uc010zzc.1_Silent_p.D113D NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 210 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CCTGTTGGCTGTCACCTGGCA 0.547 MC3R 4159 broad.mit.edu 37 20 54824345 54824345 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:54824345C>T uc002xxb.2 + 1 558 c.446C>T c.(445-447)GCG>GTG p.A149V NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 186 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) ATCTTTTACGCGCTCCGCTAC 0.582 ZNF831 128611 broad.mit.edu 37 20 57766684 57766684 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:57766684T>A uc002yan.2 + 1 610 c.610T>A c.(610-612)TCA>ACA p.S204T NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 204 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CCGGCTGTCCTCAGAGTCCGA 0.677 PHACTR3 116154 broad.mit.edu 37 20 58348477 58348477 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:58348477A>G uc002yau.2 + 6 1362 c.895A>G c.(895-897)AGG>GGG p.R299G PHACTR3_uc002yat.2_Missense_Mutation_p.R296G|PHACTR3_uc010zzw.1_Missense_Mutation_p.R258G|PHACTR3_uc002yav.2_Missense_Mutation_p.R258G|PHACTR3_uc002yaw.2_Missense_Mutation_p.R258G|PHACTR3_uc002yax.2_Missense_Mutation_p.R188G NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 299 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GGAGCTGCACAGGGCGCTGGC 0.687 SYCP2 10388 broad.mit.edu 37 20 58457178 58457178 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:58457178A>C uc002yaz.2 - 26 2711 c.2572T>G c.(2572-2574)TTT>GTT p.F858V NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 858 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ACATTAACAAAGGTAGTCTTC 0.199 SYCP2 10388 broad.mit.edu 37 20 58490556 58490556 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:58490556C>T uc002yaz.2 - 8 702 c.563G>A c.(562-564)CGG>CAG p.R188Q SYCP2_uc010gju.1_Missense_Mutation_p.R89Q NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 188 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GAGTATTTTCCGGGCATCTTG 0.274 C20orf177 63939 broad.mit.edu 37 20 58519297 58519297 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:58519297C>T uc002yba.2 + 5 714 c.299C>T c.(298-300)TCG>TTG p.S100L C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Missense_Mutation_p.S100L NM_022106 NP_071389 Q9NTX9 CT177_HUMAN hypothetical protein LOC63939 100 ovary(2)|breast(1) 3 all_lung(29;0.00693) BRCA - Breast invasive adenocarcinoma(7;1.22e-08) CTCTCTGATTCGGAAAGAATT 0.428 OGFR 11054 broad.mit.edu 37 20 61441914 61441914 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:61441914C>T uc002ydj.2 + 5 497 c.462C>T c.(460-462)GTC>GTT p.V154V OGFR_uc002ydk.2_Silent_p.V137V|OGFR_uc002ydl.2_Silent_p.V102V NM_007346 NP_031372 Q9NZT2 OGFR_HUMAN opioid growth factor receptor 154 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity 0 Breast(26;3.65e-08) TCAGGGAGGTCGAGGTGAGCC 0.622 PRIC285 85441 broad.mit.edu 37 20 62203577 62203577 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:62203577G>T uc002yfm.2 - 2 1054 c.162C>A c.(160-162)GCC>GCA p.A54A PRIC285_uc002yfn.2_Silent_p.A54A NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 54 C2H2-type; atypical. cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GGTTCTCGAAGGCCTCCTGAG 0.701 SLC2A4RG 56731 broad.mit.edu 37 20 62373487 62373487 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:62373487C>T uc002ygq.2 + 5 639 c.584C>T c.(583-585)CCG>CTG p.P195L SLC2A4RG_uc002ygr.2_Missense_Mutation_p.P90L|SLC2A4RG_uc011abj.1_Missense_Mutation_p.P90L|SLC2A4RG_uc002ygs.2_5'UTR|SLC2A4RG_uc002ygt.2_5'UTR NM_020062 NP_064446 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 195 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CTGCAGAGCCCGGCCCAGGTC 0.677 OPRL1 4987 broad.mit.edu 37 20 62729726 62729726 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:62729726C>T uc002yic.2 + 5 1089 c.687C>T c.(685-687)CTC>CTT p.L229L OPRL1_uc002yid.2_Silent_p.L229L|OPRL1_uc002yif.3_Silent_p.L224L NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 229 Helical; Name=5; (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TCCCCGTGCTCGTCATCTCTG 0.617 NRIP1 8204 broad.mit.edu 37 21 16339612 16339612 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:16339612A>G uc002yjx.2 - 4 1500 c.902T>C c.(901-903)ATG>ACG p.M301T NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 301 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) CAATCTGGCCATAGCAGCAAG 0.443 MRPL39 54148 broad.mit.edu 37 21 26979736 26979736 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:26979736G>A uc002ylo.2 - 1 66 c.52C>T c.(52-54)CCC>TCC p.P18S MRPL39_uc002yln.2_Missense_Mutation_p.P18S NM_017446 NP_059142 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 isoform a 18 mitochondrial ribosome nucleotide binding 0 CCGCCACCGGGTGCGACCAGC 0.662 OREG0026146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ADAMTS5 11096 broad.mit.edu 37 21 28338229 28338229 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:28338229G>A uc002ymg.2 - 1 1211 c.482C>T c.(481-483)GCG>GTG p.A161V NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 161 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GGTGTAGCGCGCGTGCTTGAC 0.642 IFNAR2 3455 broad.mit.edu 37 21 34635606 34635606 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:34635606C>T uc002yrd.2 + 9 1677 c.1349C>T c.(1348-1350)TCG>TTG p.S450L IFNAR2_uc002yre.2_Missense_Mutation_p.S450L|IFNAR2_uc002yrf.2_3'UTR|IL10RB_uc002yrh.1_Intron|IL10RB_uc002yri.1_Intron NM_207585 NP_997468 P48551 INAR2_HUMAN interferon alpha/beta receptor 2 isoform a 450 Cytoplasmic (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity 0 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) CTGATGCTATCGTCTCATCTG 0.493 IFNAR1 3454 broad.mit.edu 37 21 34726001 34726001 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:34726001C>T uc002yrn.2 + 10 1499 c.1352C>T c.(1351-1353)CCG>CTG p.P451L IFNAR1_uc011adv.1_Missense_Mutation_p.P382L NM_000629 NP_000620 P17181 INAR1_HUMAN interferon-alpha receptor 1 precursor 451 Helical; (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity central_nervous_system(1)|skin(1) 2 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TTTGCTCTCCCGTTTGTCATT 0.318 DOPEY2 9980 broad.mit.edu 37 21 37583892 37583892 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:37583892T>C uc002yvg.2 + 6 802 c.723T>C c.(721-723)CTT>CTC p.L241L DOPEY2_uc011aeb.1_Silent_p.L241L NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 241 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CAAATGTTCTTGTGCAAAGAA 0.398 IGSF5 150084 broad.mit.edu 37 21 41151197 41151197 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:41151197G>A uc002yyo.2 + 5 1002 c.899G>A c.(898-900)TGC>TAC p.C300Y NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 300 Cytoplasmic (Potential).|Cys-rich. integral to membrane|tight junction 0 Prostate(19;5.35e-06) tgcaactgctgctgccgttgt 0.259 RIPK4 54101 broad.mit.edu 37 21 43161140 43161140 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:43161140G>T uc002yzn.1 - 8 2261 c.2213C>A c.(2212-2214)GCG>GAG p.A738E NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 738 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CAGGTGCAGCGCGCTGAGCCC 0.687 COL6A2 1292 broad.mit.edu 37 21 47537842 47537842 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:47537842G>T uc002zia.1 + 12 1190 c.1108G>T c.(1108-1110)GGC>TGC p.G370C COL6A2_uc002zhy.1_Missense_Mutation_p.G370C|COL6A2_uc002zhz.1_Missense_Mutation_p.G370C|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 370 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AGGAGACCAAGGCGGCAAGGT 0.682 C21orf56 84221 broad.mit.edu 37 21 47581501 47581501 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:47581501G>A uc011afu.1 - 5 1877 c.815C>T c.(814-816)CCG>CTG p.P272L C21orf56_uc002zii.2_Missense_Mutation_p.P118L NM_001142854 NP_001136326 Q9H0A9 CU056_HUMAN hypothetical protein LOC84221 isoform 1 272 protein binding skin(1) 1 Breast(49;0.214) Colorectal(79;0.241) GCTGAACGCCGGGTGCACGTC 0.697 ARVCF 421 broad.mit.edu 37 22 19965533 19965533 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:19965533G>A uc002zqz.2 - 8 1917 c.1646C>T c.(1645-1647)GCG>GTG p.A549V ARVCF_uc002zqy.2_Missense_Mutation_p.A71V NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 549 ARM 5. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) ATGCAGGAGCGCGTCCACCAG 0.657 PI4KA 5297 broad.mit.edu 37 22 21098990 21098990 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:21098990G>A uc002zsz.3 - 30 3439 c.3208C>T c.(3208-3210)CGC>TGC p.R1070C NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 1070 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding p.R1070L(1) lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CAGGCCGGGCGCTCGCTCAGC 0.527 SERPIND1 3053 broad.mit.edu 37 22 21134357 21134357 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:21134357T>G uc002ztb.1 + 2 824 c.757T>G c.(757-759)TTC>GTC p.F253V PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.F281V NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 253 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) GATAGCTGACTTCTCAGACCC 0.433 GAL3ST1 9514 broad.mit.edu 37 22 30951162 30951162 + Silent SNP G G A rs146972531 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:30951162G>A uc003aig.1 - 4 1190 c.1050C>T c.(1048-1050)CAC>CAT p.H350H GAL3ST1_uc003aih.1_Silent_p.H350H|GAL3ST1_uc003aii.1_Silent_p.H350H|GAL3ST1_uc010gvz.1_Silent_p.H350H NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 350 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 CGTCCACGGCGTGGCCCCCGT 0.706 EIF4ENIF1 56478 broad.mit.edu 37 22 31859740 31859740 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:31859740C>T uc003akz.1 - 5 676 c.512G>A c.(511-513)CGT>CAT p.R171H EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R171H|EIF4ENIF1_uc003alb.1_Intron NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 171 Arg-rich. nucleus protein binding|protein transporter activity ovary(1) 1 ATCGCTAAGACGGTGATCCTT 0.458 HMOX1 3162 broad.mit.edu 37 22 35783051 35783051 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:35783051C>T uc003ant.1 + 3 598 c.518C>T c.(517-519)GCC>GTC p.A173V NM_002133 NP_002124 P09601 HMOX1_HUMAN heme oxygenase (decyclizing) 1 173 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity ovary(1) 1 NADH(DB00157) CCCAACATTGCCAGTGCCACC 0.602 APOL2 23780 broad.mit.edu 37 22 36624266 36624266 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:36624266C>T uc003aoz.2 - 5 534 c.198G>A c.(196-198)AAG>AAA p.K66K APOL2_uc011amm.1_Silent_p.K178K|APOL2_uc003apa.2_Silent_p.K66K NM_030882 NP_112092 Q9BQE5 APOL2_HUMAN apolipoprotein L2 66 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding 0 GGTTTTTGTCCTTCATGACCA 0.463 MYH9 4627 broad.mit.edu 37 22 36682871 36682871 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:36682871G>A uc003apg.2 - 35 5185 c.4954C>T c.(4954-4956)CGC>TGC p.R1652C NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1652 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TCCAGCTCGCGCATGCAGTCC 0.627 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated OREG0026519 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CSF2RB 1439 broad.mit.edu 37 22 37325725 37325725 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:37325725G>A uc003aqa.3 + 6 811 c.594G>A c.(592-594)GGG>GGA p.G198G CSF2RB_uc003aqc.3_Silent_p.G198G NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 198 Fibronectin type-III 1.|Extracellular (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CCACCCTGGGGCCAGAGCACC 0.682 GCAT 23464 broad.mit.edu 37 22 38212245 38212245 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:38212245C>T uc003atz.2 + 8 1045 c.1025C>T c.(1024-1026)TCG>TTG p.S342L GCAT_uc003aua.1_Missense_Mutation_p.S368L NM_014291 NP_055106 O75600 KBL_HUMAN glycine C-acetyltransferase precursor 342 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups 0 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TTCACTATCTCGGGAGCCAGT 0.592 TAB1 10454 broad.mit.edu 37 22 39826095 39826095 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:39826095C>A uc003axt.2 + 11 1432 c.1383C>A c.(1381-1383)CTC>CTA p.L461L TAB1_uc003axr.2_Silent_p.L537L|TAB1_uc011aok.1_Silent_p.L295L|TAB1_uc003axu.1_Intron NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 461 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 ACGGAGGCCTCTTCCGCTCCC 0.647 SGSM3 27352 broad.mit.edu 37 22 40802507 40802507 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:40802507G>A uc003ayu.1 + 10 1235 c.1026G>A c.(1024-1026)TCG>TCA p.S342S SGSM3_uc010gyc.1_3'UTR|SGSM3_uc011aos.1_Silent_p.S275S|SGSM3_uc011aot.1_Silent_p.S279S|SGSM3_uc010gyd.1_Silent_p.S342S NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 342 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 ATATCCCGTCGCAGATGGAGG 0.642 DNAJB7 150353 broad.mit.edu 37 22 41257517 41257517 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:41257517C>T uc003azj.2 - 1 614 c.482G>A c.(481-483)GGT>GAT p.G161D XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_Intron|XPNPEP3_uc003azf.1_Intron|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 161 protein folding heat shock protein binding|unfolded protein binding ovary(1) 1 CCCCAATGAACCCTGTGATGT 0.383 EFCAB6 64800 broad.mit.edu 37 22 43926824 43926824 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:43926824C>T uc003bdy.1 - 31 4469 c.4254G>A c.(4252-4254)ACG>ACA p.T1418T EFCAB6_uc003bdz.1_Silent_p.T1266T|EFCAB6_uc010gzi.1_Silent_p.T1266T NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1418 Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) AAAAAGATGGCGTCTCCGCGC 0.483 FBLN1 2192 broad.mit.edu 37 22 45996204 45996204 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:45996204C>T uc003bgj.1 + 17 2137 c.1990C>T c.(1990-1992)CGG>TGG p.R664W FBLN1_uc003bgk.1_RNA NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 664 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCGCCAGGTGCGGCCCATCGT 0.557 TBC1D22A 25771 broad.mit.edu 37 22 47193446 47193446 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:47193446C>T uc003bib.2 + 4 701 c.566C>T c.(565-567)GCG>GTG p.A189V TBC1D22A_uc010haf.2_Missense_Mutation_p.A159V|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.A142V NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 189 intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) AGCAGCTCAGCGCTGAGCGAA 0.652 OREG0026659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZBED4 9889 broad.mit.edu 37 22 50279870 50279870 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:50279870C>T uc003bix.2 + 2 3030 c.2560C>T c.(2560-2562)CGG>TGG p.R854W NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 854 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GAGCCTCGCCCGGAAGATCTG 0.627 MLC1 23209 broad.mit.edu 37 22 50523291 50523291 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:50523291C>T uc003bjg.1 - 2 314 c.41G>A c.(40-42)CGG>CAG p.R14Q MLC1_uc011arl.1_Missense_Mutation_p.R14Q|MLC1_uc003bjh.1_Missense_Mutation_p.R14Q|MLC1_uc011arm.1_Missense_Mutation_p.R14Q|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Missense_Mutation_p.R14Q NM_139202 NP_631941 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with 14 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity pancreas(1) 1 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CGTGGGCATCCGGTCATAGGC 0.627 MOV10L1 54456 broad.mit.edu 37 22 50591566 50591566 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:50591566G>A uc003bjj.2 + 22 3068 c.2985G>A c.(2983-2985)GCG>GCA p.A995A MOV10L1_uc003bjk.3_Silent_p.A995A|MOV10L1_uc011arp.1_Silent_p.A975A|MOV10L1_uc003bjl.2_Silent_p.A122A|MOV10L1_uc003bjm.1_Silent_p.A38A NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 995 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGGTCTGTGCGGACCCCACAG 0.582 TUBGCP6 85378 broad.mit.edu 37 22 50656171 50656171 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:50656171G>A uc003bkb.1 - 25 5966 c.5454C>T c.(5452-5454)GAC>GAT p.D1818D TUBGCP6_uc003bka.1_Silent_p.D888D|TUBGCP6_uc010har.1_Silent_p.D1810D|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1818 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGCCTCAGGCGTCCTGGTAGT 0.622 BRPF1 7862 broad.mit.edu 37 3 9776150 9776150 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:9776150G>A uc003bse.2 + 2 725 c.326G>A c.(325-327)CGC>CAC p.R109H BRPF1_uc003bsf.2_Missense_Mutation_p.R109H|BRPF1_uc003bsg.2_Missense_Mutation_p.R109H|BRPF1_uc011ati.1_Missense_Mutation_p.R109H NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 109 Interaction with MYST3 and MYST4. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) CGCGTCCACCGCATCAGCATC 0.602 FANCD2 2177 broad.mit.edu 37 3 10130535 10130535 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:10130535G>A uc003buw.2 + 36 3662 c.3584G>A c.(3583-3585)AGC>AAC p.S1195N FANCD2_uc003bux.1_Missense_Mutation_p.S1195N|FANCD2_uc003buy.1_Missense_Mutation_p.S1195N|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 1195 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) CACACAGAGAGCATTCTGAAG 0.433 D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia CAPN7 23473 broad.mit.edu 37 3 15288865 15288865 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:15288865G>A uc003bzn.2 + 19 2375 c.2105G>A c.(2104-2106)GGA>GAA p.G702E NM_014296 NP_055111 Q9Y6W3 CAN7_HUMAN calpain 7 702 Domain N. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 CAGAGTGCTGGAGGATGTGGA 0.368 GALNTL2 117248 broad.mit.edu 37 3 16217107 16217107 + Missense_Mutation SNP C C T rs145670083 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:16217107C>T uc003car.3 + 1 924 c.449C>T c.(448-450)ACC>ATC p.T150I GALNTL2_uc003caq.3_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 150 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 GAGGAGTTGACCCCGTTCAGC 0.632 TBC1D5 9779 broad.mit.edu 37 3 17202725 17202725 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:17202725G>A uc003cbf.2 - 22 3783 c.2118C>T c.(2116-2118)TGC>TGT p.C706C TBC1D5_uc010heu.2_Silent_p.C293C|TBC1D5_uc010hev.2_Silent_p.C728C|TBC1D5_uc003cbe.2_Silent_p.C706C NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 706 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 CTCTATCAGTGCACCCTGGCG 0.527 SATB1 6304 broad.mit.edu 37 3 18457551 18457551 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:18457551C>G uc003cbh.2 - 4 2198 c.463G>C c.(463-465)GAT>CAT p.D155H SATB1_uc003cbi.2_Missense_Mutation_p.D155H|SATB1_uc003cbj.2_Missense_Mutation_p.D155H NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 155 PDZ-like dimerization domain. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 TGAAGCATATCTGCTACTGTA 0.418 CLASP2 23122 broad.mit.edu 37 3 33576740 33576740 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:33576740C>T uc003cfu.2 - 33 4126 c.3772G>A c.(3772-3774)GAC>AAC p.D1258N CLASP2_uc003cfs.2_Missense_Mutation_p.D465N|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.D858N NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 1267 ovary(3)|central_nervous_system(1) 4 GGAAACTGGTCAGCATCATCA 0.408 LRRFIP2 9209 broad.mit.edu 37 3 37114363 37114363 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:37114363C>T uc003cgp.2 - 22 1805 c.1382G>A c.(1381-1383)CGC>CAC p.R461H LRRFIP2_uc011ayf.1_Missense_Mutation_p.R277H|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting 461 Potential. Wnt receptor signaling pathway LRR domain binding ovary(1) 1 CTGCTGCATGCGCTGCTTCTC 0.418 ACVR2B 93 broad.mit.edu 37 3 38524697 38524697 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:38524697G>A uc003cif.2 + 11 1437 c.1413G>A c.(1411-1413)GCG>GCA p.A471A ACVR2B_uc003cig.2_Silent_p.A262A NM_001106 NP_001097 Q13705 AVR2B_HUMAN activin A receptor, type IIB precursor 471 Cytoplasmic (Potential).|Protein kinase. activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) GCTTGTCCGCGGGCTGTGTGG 0.607 KBTBD5 131377 broad.mit.edu 37 3 42728053 42728053 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:42728053T>C uc003clv.1 + 1 1043 c.943T>C c.(943-945)TTC>CTC p.F315L NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 315 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTTCGGCATGTTCCTGCAGGA 0.572 CCR3 1232 broad.mit.edu 37 3 46307386 46307386 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:46307386C>T uc003cpg.1 + 4 1280 c.737C>T c.(736-738)GCG>GTG p.A246V CCR3_uc003cpi.1_Missense_Mutation_p.A246V|CCR3_uc003cpj.1_Missense_Mutation_p.A246V|CCR3_uc003cpk.1_Missense_Mutation_p.A267V|CCR3_uc010hjb.1_Missense_Mutation_p.A264V|CCR3_uc003cpl.1_Missense_Mutation_p.A279V NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 246 Helical; Name=6; (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GTCATCATGGCGGTGTTTTTC 0.453 LTF 4057 broad.mit.edu 37 3 46490404 46490404 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:46490404C>T uc003cpq.2 - 9 1200 c.1162G>A c.(1162-1164)GTG>ATG p.V388M LTF_uc003fzr.2_Missense_Mutation_p.V344M|LTF_uc010hjh.2_Missense_Mutation_p.V388M|LTF_uc003cpr.2_Missense_Mutation_p.V375M NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 388 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity p.V388E(1) central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GAGCAGGTCACGCTGCCTTCG 0.682 RTP3 83597 broad.mit.edu 37 3 46539601 46539601 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:46539601C>T uc003cps.1 + 1 117 c.49C>T c.(49-51)CGG>TGG p.R17W NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN transmembrane protein 7 17 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) GGAGTTAATGCGGGAGGTGAA 0.587 SHISA5 51246 broad.mit.edu 37 3 48510933 48510933 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:48510933G>T uc003ctp.1 - 5 604 c.470C>A c.(469-471)GCC>GAC p.A157D SHISA5_uc003ctn.1_Nonsense_Mutation_p.C25*|SHISA5_uc003ctm.1_Missense_Mutation_p.A54D|SHISA5_uc011bbk.1_Nonsense_Mutation_p.C65*|SHISA5_uc003cto.1_Missense_Mutation_p.A126D|SHISA5_uc003ctq.1_Missense_Mutation_p.A150D|SHISA5_uc003ctr.1_Missense_Mutation_p.A126D|SHISA5_uc003cts.1_Missense_Mutation_p.A126D|SHISA5_uc003ctt.2_Missense_Mutation_p.A54D|SHISA5_uc003ctu.1_RNA|SHISA5_uc011bbl.1_Missense_Mutation_p.A55D NM_016479 NP_057563 Q8N114 SHSA5_HUMAN scotin precursor 157 Cytoplasmic (Potential). apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|integral to membrane|nuclear membrane signal transducer activity|WW domain binding 0 AGGATAAGGGGCATGCACCAC 0.612 COL7A1 1294 broad.mit.edu 37 3 48613062 48613062 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:48613062C>A uc003ctz.2 - 72 5977 c.5976G>T c.(5974-5976)AAG>AAT p.K1992N NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1992 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGCTCACCTCCTTGCCTGGGG 0.647 IP6K2 51447 broad.mit.edu 37 3 48725986 48725986 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:48725986A>G uc003cup.2 - 6 1245 c.1001T>C c.(1000-1002)ATT>ACT p.I334T NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Missense_Mutation_p.I334T NM_001005909 NP_001005909 Q9UHH9 IP6K2_HUMAN inositol hexaphosphate kinase 2 isoform a 334 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity 0 GCCATCATAAATGACCAGCAG 0.557 DAG1 1605 broad.mit.edu 37 3 49569667 49569667 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:49569667T>C uc003cxc.3 + 3 2141 c.1723T>C c.(1723-1725)TAT>CAT p.Y575H NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 575 Peptidase S72. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CAAACACGAGTATTTCATGCA 0.602 RBM6 10180 broad.mit.edu 37 3 50103840 50103840 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:50103840A>G uc003cyc.2 + 17 2981 c.2848A>G c.(2848-2850)ACT>GCT p.T950A RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.T428A|RBM6_uc003cye.2_Missense_Mutation_p.T428A|RBM6_uc011bdi.1_Missense_Mutation_p.T292A|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 950 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) AGACAAACTCACTGACTGGAA 0.507 FAM116A 201627 broad.mit.edu 37 3 57614584 57614584 + Missense_Mutation SNP G G C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:57614584G>C uc003dja.2 - 19 1720 c.1649C>G c.(1648-1650)ACA>AGA p.T550R NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 550 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) TTCTACTTCTGTGTGTTTCTG 0.338 SLMAP 7871 broad.mit.edu 37 3 57743471 57743471 + Silent SNP C C T rs144914455 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:57743471C>T uc003dje.1 + 1 298 c.93C>T c.(91-93)GGC>GGT p.G31G SLMAP_uc003djc.1_Silent_p.G31G|SLMAP_uc003djd.1_Silent_p.G31G|SLMAP_uc003djf.1_Silent_p.G31G NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 31 Necessary for targeting to centrosomes (By similarity).|Cytoplasmic (Potential).|FHA. muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TCAAAATCGGCCGCTCAGTGG 0.557 SLMAP 7871 broad.mit.edu 37 3 57913085 57913085 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:57913085C>T uc003dje.1 + 22 2662 c.2457C>T c.(2455-2457)TAC>TAT p.Y819Y SLMAP_uc003djd.1_Silent_p.Y802Y|SLMAP_uc003djf.1_Silent_p.Y781Y|SLMAP_uc003djg.1_3'UTR|SLMAP_uc011bez.1_Silent_p.Y287Y|SLMAP_uc011bfa.1_Silent_p.Y353Y|SLMAP_uc003dji.1_3'UTR|SLMAP_uc011bfb.1_Silent_p.Y353Y|SLMAP_uc011bfc.1_3'UTR NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 819 Helical; Anchor for type IV membrane protein; (Potential). muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TCGTGCTGTACGTGCCAGGTC 0.542 MAGI1 9223 broad.mit.edu 37 3 65342204 65342204 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:65342204C>A uc003dmn.2 - 23 4764 c.4238G>T c.(4237-4239)CGG>CTG p.R1413L MAGI1_uc003dmm.2_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 1442 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GTCCAGGGACCGCTCTCTCCT 0.667 MAGI1 9223 broad.mit.edu 37 3 65342235 65342235 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:65342235G>A uc003dmn.2 - 23 4733 c.4207C>T c.(4207-4209)CGC>TGC p.R1403C MAGI1_uc003dmm.2_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 1432 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GAGCGTGCGCGCCTCCGGTCG 0.667 MAGI1 9223 broad.mit.edu 37 3 65456114 65456114 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:65456114A>G uc003dmn.2 - 5 1329 c.803T>C c.(802-804)TTA>TCA p.L268S MAGI1_uc003dmm.2_Missense_Mutation_p.L268S|MAGI1_uc003dmo.2_Missense_Mutation_p.L268S|MAGI1_uc003dmp.2_Missense_Mutation_p.L268S|MAGI1_uc010hny.2_Missense_Mutation_p.L153S|MAGI1_uc003dmr.2_Missense_Mutation_p.L269S NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 268 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CACAGGTGGTAATGCTGTTTC 0.448 UBA3 9039 broad.mit.edu 37 3 69105035 69105035 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:69105035G>A uc003dno.2 - 17 1290 c.1270C>T c.(1270-1272)CGA>TGA p.R424* UBA3_uc003dnq.2_Nonsense_Mutation_p.R410*|UBA3_uc011bfy.1_Nonsense_Mutation_p.R247*|UBA3_uc011bfz.1_Nonsense_Mutation_p.R247* NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN ubiquitin-activating enzyme 3 isoform 1 424 Interaction with UBE2M core domain. R->A: No effect on NEDD8 transfer to UBE2M. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) GGCCTTGTTCGTTCTTCAATA 0.264 FOXP1 27086 broad.mit.edu 37 3 71090486 71090486 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:71090486T>C uc003dol.2 - 7 1185 c.862A>G c.(862-864)AGG>GGG p.R288G FOXP1_uc003dom.2_Missense_Mutation_p.R212G|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.R288G|FOXP1_uc003dop.2_Missense_Mutation_p.R288G|FOXP1_uc003doq.1_Missense_Mutation_p.R287G|FOXP1_uc003doi.2_Missense_Mutation_p.R188G|FOXP1_uc003doj.2_Missense_Mutation_p.R188G|FOXP1_uc003dok.2_Missense_Mutation_p.R101G|FOXP1_uc003dor.1_Missense_Mutation_p.R66G NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 288 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TACCTTTCCCTTTTGGGAGTG 0.517 T PAX5 ALL ARL13B 200894 broad.mit.edu 37 3 93755579 93755579 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:93755579C>T uc003drc.2 + 5 956 c.670C>T c.(670-672)CGA>TGA p.R224* ARL13B_uc010hop.2_Nonsense_Mutation_p.R75*|ARL13B_uc003drd.2_Nonsense_Mutation_p.R117*|ARL13B_uc003dre.2_Nonsense_Mutation_p.R209*|ARL13B_uc003drf.2_Nonsense_Mutation_p.R224*|ARL13B_uc003drg.2_Nonsense_Mutation_p.R121* NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 224 Potential. GTP binding 0 TGAACGAGTGCGAAAATTACG 0.363 OR5H14 403273 broad.mit.edu 37 3 97868368 97868368 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:97868368G>A uc003dsg.1 + 1 139 c.139G>A c.(139-141)GCT>ACT p.A47T NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGGTCTGATTGCTGTCATCTG 0.408 CBLB 868 broad.mit.edu 37 3 105377982 105377982 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:105377982C>T uc003dwc.2 - 19 3103 c.2781G>A c.(2779-2781)GCG>GCA p.A927A CBLB_uc003dwa.2_Silent_p.A142A|CBLB_uc011bhi.1_Silent_p.A905A NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 927 Interaction with SH3KBP1. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 TTTCCAATGCCGCCTCAGGCC 0.507 Mis S AML ZBTB20 26137 broad.mit.edu 37 3 114070106 114070106 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:114070106C>T uc003ebi.2 - 4 999 c.819G>A c.(817-819)GCG>GCA p.A273A ZBTB20_uc003ebj.2_Silent_p.A200A|ZBTB20_uc010hqp.2_Silent_p.A200A|ZBTB20_uc003ebk.2_Silent_p.A200A|ZBTB20_uc003ebl.2_Silent_p.A200A|ZBTB20_uc003ebm.2_Silent_p.A200A|ZBTB20_uc003ebn.2_Silent_p.A200A|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GCAGGCCGAGCGCAGTCTCGT 0.642 ARHGAP31 57514 broad.mit.edu 37 3 119121138 119121138 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:119121138G>A uc003ecj.3 + 10 2071 c.1539G>A c.(1537-1539)CCG>CCA p.P513P NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 513 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GAACACCCCCGAAGGAGCTGC 0.582 GSK3B 2932 broad.mit.edu 37 3 119634950 119634950 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:119634950T>C uc003edo.2 - 5 1532 c.549A>G c.(547-549)AAA>AAG p.K183K GSK3B_uc003edn.2_Silent_p.K183K NM_001146156 NP_001139628 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta isoform 2 183 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding lung(2) 2 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) GGTTCTGCGGTTTAATATCCC 0.413 EAF2 55840 broad.mit.edu 37 3 121575886 121575886 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:121575886C>T uc003een.2 + 4 466 c.367C>T c.(367-369)CGT>TGT p.R123C EAF2_uc003eeo.2_5'UTR NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 123 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) AATTCAGTATCGTAAAGAACA 0.348 SLC15A2 6565 broad.mit.edu 37 3 121648151 121648151 + Silent SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:121648151A>T uc003eep.2 + 17 1662 c.1509A>T c.(1507-1509)GTA>GTT p.V503V SLC15A2_uc011bjn.1_Silent_p.V472V NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 503 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TGTTGTAGGTAAAGGATACAG 0.388 ADCY5 111 broad.mit.edu 37 3 123166294 123166294 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:123166294G>A uc003egh.1 - 1 1099 c.1099C>T c.(1099-1101)CGC>TGC p.R367C NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 367 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) GCGTTGGTGCGCAGGGCGATG 0.677 RUVBL1 8607 broad.mit.edu 37 3 127816251 127816251 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:127816251T>C uc003ekh.2 - 8 1012 c.908A>G c.(907-909)GAG>GGG p.E303G RUVBL1_uc003eke.2_Missense_Mutation_p.E44G|RUVBL1_uc003ekf.2_Missense_Mutation_p.E243G|RUVBL1_uc010hss.2_Missense_Mutation_p.E303G NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 303 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) CATGTGGACCTCATCAACAAA 0.527 IFT122 55764 broad.mit.edu 37 3 129211008 129211008 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:129211008C>T uc003emm.2 + 17 2223 c.2017C>T c.(2017-2019)CGA>TGA p.R673* IFT122_uc003eml.2_Nonsense_Mutation_p.R724*|IFT122_uc003emn.2_Nonsense_Mutation_p.R614*|IFT122_uc003emo.2_Nonsense_Mutation_p.R562*|IFT122_uc003emp.2_Nonsense_Mutation_p.R523*|IFT122_uc010htc.2_Nonsense_Mutation_p.R665*|IFT122_uc011bky.1_Nonsense_Mutation_p.R464*|IFT122_uc003emq.2_Nonsense_Mutation_p.R513*|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc010hte.2_Nonsense_Mutation_p.R53*|IFT122_uc003ems.2_Intron|IFT122_uc011bkx.1_Nonsense_Mutation_p.R513*|IFT122_uc010htd.1_Nonsense_Mutation_p.R152* NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 673 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 ACAAGACCTCCGATATTTAGA 0.443 ASTE1 28990 broad.mit.edu 37 3 130743090 130743090 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:130743090G>A uc003env.1 - 3 1503 c.1061C>T c.(1060-1062)CCC>CTC p.P354L NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.P354L|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 354 ILP -> FLH (in Ref. 4; AAF14876). DNA repair nuclease activity 0 CACCTGTGTGGGAAGAATGGT 0.448 TOPBP1 11073 broad.mit.edu 37 3 133320111 133320111 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:133320111G>A uc003eps.2 - 28 4684 c.4552C>T c.(4552-4554)CGA>TGA p.R1518* NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1518 Nuclear localization signal (Potential). DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 ACTCTAGGTCGTTTGATTTTA 0.333 Other_conserved_DNA_damage_response_genes EPHB1 2047 broad.mit.edu 37 3 134851684 134851684 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:134851684C>T uc003eqt.2 + 5 1310 c.1090C>T c.(1090-1092)CGG>TGG p.R364W EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 364 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.R364L(1) lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CAAAAAGTGCCGGGCAGACCG 0.602 FOXL2 668 broad.mit.edu 37 3 138664511 138664511 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:138664511C>T uc003esw.2 - 1 1472 c.1054G>A c.(1054-1056)GAG>AAG p.E352K uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank NM_023067 NP_075555 P58012 FOXL2_HUMAN forkhead box L2 352 convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding ovary(266)|large_intestine(1)|skin(1) 268 ATGGCGAGCTCGGGCTGCCGG 0.478 Mis granulosa-cell tumour of the ovary Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III PAQR9 344838 broad.mit.edu 37 3 142681359 142681359 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:142681359A>C uc003evg.2 - 1 820 c.820T>G c.(820-822)TTC>GTC p.F274V PAQR9_uc003evf.1_RNA NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 274 Extracellular (Potential). integral to membrane receptor activity 0 AAGTGCACGAAGAGTGTGGGG 0.607 ZIC4 84107 broad.mit.edu 37 3 147114002 147114002 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:147114002C>T uc003ewd.1 - 3 598 c.325G>A c.(325-327)GCG>ACG p.A109T ZIC4_uc003ewc.1_Missense_Mutation_p.A39T|ZIC4_uc011bno.1_Missense_Mutation_p.A159T NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 109 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CCGTGGGGCGCAGCGAGGTTC 0.706 EIF2A 83939 broad.mit.edu 37 3 150289982 150289982 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:150289982A>G uc003eya.2 + 10 1065 c.1049A>G c.(1048-1050)AAA>AGA p.K350R SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.K223R|EIF2A_uc003eyc.2_Missense_Mutation_p.K223R|EIF2A_uc011bnv.1_Missense_Mutation_p.K325R|EIF2A_uc011bnw.1_Missense_Mutation_p.K289R|EIF2A_uc003eyd.2_Missense_Mutation_p.K125R|uc003eye.1_Intron NM_032025 NP_114414 Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A 350 regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding 0 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) AAAAACTACAAACTTATTTCT 0.423 P2RY12 64805 broad.mit.edu 37 3 151056290 151056290 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:151056290A>G uc003eyw.1 - 2 560 c.344T>C c.(343-345)CTG>CCG p.L115P MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Missense_Mutation_p.L115P NM_176876 NP_795345 Q9H244 P2Y12_HUMAN purinergic receptor P2Y12 115 Helical; Name=3; (Potential). platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) TATCAGTCCCAGGAATGAAAT 0.418 DHX36 170506 broad.mit.edu 37 3 154017707 154017707 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:154017707G>A uc003ezy.3 - 12 1550 c.1469C>T c.(1468-1470)GCG>GTG p.A490V DHX36_uc010hvq.2_Missense_Mutation_p.A490V|DHX36_uc003ezz.3_Missense_Mutation_p.A490V NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 490 Helicase C-terminal. 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) GACCAGTATCGCACCATCCTA 0.358 RSRC1 51319 broad.mit.edu 37 3 157840089 157840089 + Splice_Site SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:157840089T>G uc003fbt.2 + 2 305 c.194_splice c.e2+2 p.R65_splice RSRC1_uc011bou.1_Splice_Site_p.R65_splice|RSRC1_uc003fbu.1_Splice_Site_p.R65_splice|RSRC1_uc003fbv.2_Splice_Site_p.R65_splice NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) TGATAGAAGGTGATTTTTGTA 0.289 WDR49 151790 broad.mit.edu 37 3 167217963 167217963 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:167217963C>T uc003fev.1 - 14 2259 c.1953G>A c.(1951-1953)CTG>CTA p.L651L WDR49_uc003feu.1_Silent_p.L476L|WDR49_uc011bpd.1_Silent_p.L616L|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 651 large_intestine(1)|ovary(1)|skin(1) 3 ACGGGGCCTCCAGAATTTGGG 0.428 PRKCI 5584 broad.mit.edu 37 3 169998141 169998141 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:169998141C>T uc003fgs.2 + 9 1070 c.832C>T c.(832-834)CGT>TGT p.R278C NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 278 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AAAAACAGATCGTATTTATGC 0.348 SLC7A14 57709 broad.mit.edu 37 3 170244713 170244713 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:170244713A>C uc003fgz.2 - 2 329 c.13T>G c.(13-15)TTC>GTC p.F5V CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 5 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AGCGAGGTGAAGAAGCCACTC 0.567 KCNMB2 10242 broad.mit.edu 37 3 178546005 178546005 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:178546005G>A uc003fjd.2 + 4 610 c.267G>A c.(265-267)GCG>GCA p.A89A uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Silent_p.A89A|KCNMB2_uc003fjf.2_Silent_p.A89A|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN calcium-activated potassium channel beta 2 89 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(1) 1 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) TGCTGAATGCGTCCATCACGG 0.488 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) USP13 8975 broad.mit.edu 37 3 179474842 179474842 + Missense_Mutation SNP C C T rs149947980 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:179474842C>T uc003fkh.2 + 16 2005 c.1924C>T c.(1924-1926)CGC>TGC p.R642C USP13_uc003fkf.2_3'UTR NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 642 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) ATTTCCAGATCGCCTGATGAA 0.373 ABCF3 55324 broad.mit.edu 37 3 183911390 183911390 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:183911390G>A uc003fmz.2 + 21 2167 c.2034G>A c.(2032-2034)TGG>TGA p.W678* ABCF3_uc003fna.2_Nonsense_Mutation_p.W672*|ABCF3_uc003fnb.2_Nonsense_Mutation_p.W359* NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 678 ABC transporter 2. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGGAGTTGTGGGTATGCGAAG 0.622 VPS8 23355 broad.mit.edu 37 3 184633161 184633161 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:184633161C>T uc003fpb.1 + 27 2446 c.2275C>T c.(2275-2277)CGC>TGC p.R759C VPS8_uc010hyd.1_Missense_Mutation_p.R669C|VPS8_uc010hye.1_Missense_Mutation_p.R188C NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 761 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) ATTTCTAATTCGCCTGCATTC 0.363 FETUB 26998 broad.mit.edu 37 3 186360309 186360309 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:186360309T>C uc010hyq.2 + 4 647 c.386T>C c.(385-387)GTT>GCT p.V129A FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.V129A|FETUB_uc003fqo.2_Missense_Mutation_p.V24A|FETUB_uc010hyr.2_Missense_Mutation_p.V92A|FETUB_uc010hys.2_Intron|FETUB_uc003fqp.3_Intron NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 129 Cystatin fetuin-B-type 1. extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CCAAGTAGAGTTCTCTATTTA 0.343 TP63 8626 broad.mit.edu 37 3 189526243 189526243 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:189526243C>T uc003fry.2 + 4 596 c.507C>T c.(505-507)ACC>ACT p.T169T TP63_uc003frx.2_Silent_p.T169T|TP63_uc003frz.2_Silent_p.T169T|TP63_uc010hzc.1_Silent_p.T169T|TP63_uc003fsa.2_Silent_p.T75T|TP63_uc003fsb.2_Silent_p.T75T|TP63_uc003fsc.2_Silent_p.T75T|TP63_uc003fsd.2_Silent_p.T75T|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.T50T NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 169 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) CCTCCAACACCGACTACCCAG 0.652 Hay-Wells_syndrome HNSCC(45;0.13) ACAP2 23527 broad.mit.edu 37 3 195022369 195022369 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:195022369G>T uc003fun.3 - 15 1571 c.1330C>A c.(1330-1332)CTT>ATT p.L444I NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 444 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 TGAACCCCAAGGCTCCTAAGT 0.348 PPP1R2 5504 broad.mit.edu 37 3 195245831 195245831 + Silent SNP C C T rs144914044 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:195245831C>T uc003fup.2 - 5 931 c.555G>A c.(553-555)ACG>ACA p.T185T NM_006241 NP_006232 P41236 IPP2_HUMAN protein phosphatase 1, regulatory subunit 2 185 glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity urinary_tract(1) 1 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) TTGATTCTTCCGTATTCATGC 0.338 MUC4 4585 broad.mit.edu 37 3 195498524 195498524 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:195498524T>C uc011bto.1 - 6 13317 c.12857A>G c.(12856-12858)CAG>CGG p.Q4286R MUC4_uc003fuz.2_Missense_Mutation_p.R94G|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Missense_Mutation_p.Q155R|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Missense_Mutation_p.Q155R|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.Q178R|MUC4_uc003fvp.2_Missense_Mutation_p.Q127R|MUC4_uc010hzu.1_Missense_Mutation_p.Q1026R NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1171 NIDO. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AAGGCTCACCTGATAAAATGT 0.602 MUC4 4585 broad.mit.edu 37 3 195515664 195515664 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:195515664G>A uc011bto.1 - 2 3247 c.2787C>T c.(2785-2787)ACC>ACT p.T929T MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.T811T NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 934 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAAGGTGTCGGTTGCCTGGG 0.582 LRRC33 375387 broad.mit.edu 37 3 196386812 196386812 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:196386812G>A uc003fwv.2 + 3 402 c.298G>A c.(298-300)GCC>ACC p.A100T NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 100 Extracellular (Potential).|LRR 2. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CAGCCGCGGCGCCTTCCAGGA 0.657 PIGG 54872 broad.mit.edu 37 4 515569 515569 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:515569G>A uc003gak.3 + 8 1589 c.1453G>A c.(1453-1455)GCC>ACC p.A485T PIGG_uc003gaj.3_Missense_Mutation_p.A477T|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.A352T|PIGG_uc003gal.3_Missense_Mutation_p.A396T|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_3'UTR|PIGG_uc003gam.2_3'UTR|PIGG_uc003gan.2_Missense_Mutation_p.A396T NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 485 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 GGTTCTTTCGGCCGTTCACGT 0.577 NOP14 8602 broad.mit.edu 37 4 2944054 2944054 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:2944054C>A uc003ggj.1 - 14 1988 c.1916G>T c.(1915-1917)AGA>ATA p.R639I C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.R385I|NOP14_uc003ggk.3_Missense_Mutation_p.R639I|NOP14_uc003ggl.2_Missense_Mutation_p.R639I NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 639 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 CCCAAGCGCTCTGAAAGGGTG 0.602 OTOP1 133060 broad.mit.edu 37 4 4190572 4190572 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:4190572C>G uc003ghp.1 - 6 1827 c.1797G>C c.(1795-1797)ATG>ATC p.M599I NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 599 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAGCTGCGTGCATTCGATAGA 0.458 STK32B 55351 broad.mit.edu 37 4 5461854 5461854 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:5461854C>T uc003gih.1 + 9 872 c.808C>T c.(808-810)CGC>TGC p.R270C STK32B_uc010ida.1_Missense_Mutation_p.R223C NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 270 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 TCCTGAGAGCCGCGTGTCCAG 0.567 OREG0016061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) JAKMIP1 152789 broad.mit.edu 37 4 6107525 6107525 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:6107525G>A uc003giu.3 - 3 575 c.299C>T c.(298-300)GCG>GTG p.A100V JAKMIP1_uc010idb.1_Missense_Mutation_p.A100V|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.A100V|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.A100V|JAKMIP1_uc010ide.2_Missense_Mutation_p.A100V NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 100 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GGCGGTGCGCGCCGCCTCCTG 0.682 KIAA0232 9778 broad.mit.edu 37 4 6863563 6863563 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:6863563G>T uc003gjr.3 + 7 1917 c.1454G>T c.(1453-1455)GGG>GTG p.G485V KIAA0232_uc003gjq.3_Missense_Mutation_p.G485V NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 485 ATP binding ovary(2) 2 GACCTCACTGGGACCTCATTA 0.363 SH3TC1 54436 broad.mit.edu 37 4 8229894 8229894 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:8229894G>A uc003gkv.3 + 12 2574 c.2473G>A c.(2473-2475)GTG>ATG p.V825M SH3TC1_uc003gkw.3_Missense_Mutation_p.V749M|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 825 binding large_intestine(2)|pancreas(1) 3 CCGTGCCATCGTGGACCACCT 0.662 GPR78 27201 broad.mit.edu 37 4 8582915 8582915 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:8582915G>A uc003glk.2 + 1 625 c.206G>A c.(205-207)CGC>CAC p.R69H CPZ_uc003gll.2_RNA NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 69 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 GGTGTGATGCGCGGGCGGACA 0.692 DRD5 1816 broad.mit.edu 37 4 9784426 9784426 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:9784426G>T uc003gmb.3 + 1 1169 c.773G>T c.(772-774)AGG>ATG p.R258M NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 258 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CAGATCCGCAGGATTTCCTCC 0.632 SLC2A9 56606 broad.mit.edu 37 4 9922008 9922008 + Splice_Site SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:9922008C>G uc003gmc.2 - 7 1063 c.1002_splice c.e7+1 p.A334_splice SLC2A9_uc003gmd.2_Splice_Site_p.A305_splice NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 CCAGGACTCACTGCATTGAGG 0.512 CPEB2 132864 broad.mit.edu 37 4 15054158 15054158 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:15054158G>A uc003gni.1 + 6 1073 c.986G>A c.(985-987)CGC>CAC p.R329H CPEB2_uc003gnj.1_Missense_Mutation_p.R299H|CPEB2_uc003gnk.1_Missense_Mutation_p.R337H|CPEB2_uc003gnl.1_Missense_Mutation_p.R310H|CPEB2_uc003gnm.1_Missense_Mutation_p.R307H|CPEB2_uc003gnn.1_Missense_Mutation_p.R302H NM_182485 NP_872291 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding 329 regulation of translation cytoplasm nucleotide binding|RNA binding skin(1) 1 CGAATAGAACGCTTCTCTCGA 0.368 C1QTNF7 114905 broad.mit.edu 37 4 15444376 15444376 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:15444376G>A uc011bxb.1 + 3 1050 c.823G>A c.(823-825)GTT>ATT p.V275I C1QTNF7_uc003gno.2_Missense_Mutation_p.V282I|C1QTNF7_uc003gnp.2_Missense_Mutation_p.V275I NM_001135171 NP_001128643 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 275 C1q. collagen 0 TCTCTTATACGTTGACACAGA 0.448 CC2D2A 57545 broad.mit.edu 37 4 15529170 15529170 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:15529170A>G uc010idv.2 + 13 1495 c.1250A>G c.(1249-1251)CAT>CGT p.H417R CC2D2A_uc003gnx.2_Missense_Mutation_p.H368R|CC2D2A_uc003gnv.2_Missense_Mutation_p.H417R NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 417 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 ATCTTCACTCATCATCCCTGT 0.443 CD38 952 broad.mit.edu 37 4 15780178 15780178 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:15780178C>T uc011bxc.1 + 1 248 c.141C>T c.(139-141)CGC>CGT p.R47R CD38_uc003goj.1_Silent_p.R47R|CD38_uc003gol.1_Silent_p.R47R NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 47 Extracellular (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 CGAGGTGGCGCCAGCAGTGGA 0.627 CD38 952 broad.mit.edu 37 4 15826541 15826541 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:15826541A>G uc011bxc.1 + 3 508 c.401A>G c.(400-402)CAG>CGG p.Q134R CD38_uc003goj.1_Missense_Mutation_p.Q134R|CD38_uc003gol.1_Missense_Mutation_p.Q134R NM_001775 NP_001766 P28907 CD38_HUMAN CD38 antigen 134 Extracellular (Potential). B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity ovary(2) 2 CTGGCCCATCAGTTCACACAG 0.378 SLIT2 9353 broad.mit.edu 37 4 20487859 20487859 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:20487859G>A uc003gpr.1 + 7 780 c.576G>A c.(574-576)GTG>GTA p.V192V SLIT2_uc003gps.1_Silent_p.V192V NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 192 LRR 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GACTTTCTGTGGCAAGTTTCA 0.274 DHX15 1665 broad.mit.edu 37 4 24541861 24541861 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:24541861A>G uc003gqx.2 - 10 1824 c.1656T>C c.(1654-1656)GAT>GAC p.D552D DHX15_uc003gqw.2_5'Flank NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 552 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(1) 1 Breast(46;0.0503) TCAGATCTCCATCATCATTTA 0.418 SEL1L3 23231 broad.mit.edu 37 4 25823650 25823650 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:25823650A>G uc003gru.3 - 7 1410 c.1258T>C c.(1258-1260)TAC>CAC p.Y420H NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 420 integral to membrane binding 0 AGGCGATAGTACTTCAGGGGT 0.552 TBC1D19 55296 broad.mit.edu 37 4 26675418 26675418 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:26675418G>A uc003gsf.3 + 11 994 c.724G>A c.(724-726)GCT>ACT p.A242T TBC1D19_uc010iew.2_Missense_Mutation_p.A242T|TBC1D19_uc011bxu.1_Missense_Mutation_p.A177T NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 242 intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) ACAAGATAGTGCTGCTGCTCA 0.378 ARAP2 116984 broad.mit.edu 37 4 36081901 36081901 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:36081901C>T uc003gsq.1 - 31 4883 c.4545G>A c.(4543-4545)TGG>TGA p.W1515* NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1515 PH 5. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AACACAGGTGCCTGCAAAACG 0.398 KLB 152831 broad.mit.edu 37 4 39409119 39409119 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:39409119C>T uc003gua.2 + 1 647 c.550C>T c.(550-552)CTT>TTT p.L184F KLB_uc011byj.1_Missense_Mutation_p.L184F NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 184 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 CGCTCTAGTGCTTAGAAACAT 0.403 N4BP2 55728 broad.mit.edu 37 4 40122019 40122019 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:40122019C>T uc003guy.3 + 9 2626 c.2288C>T c.(2287-2289)ACG>ATG p.T763M N4BP2_uc010ifq.2_Missense_Mutation_p.T683M|N4BP2_uc010ifr.2_Missense_Mutation_p.T683M NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 763 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 GCAACAGTAACGAAAAAAGCC 0.373 LIMCH1 22998 broad.mit.edu 37 4 41678464 41678464 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:41678464G>A uc003gvu.3 + 18 2406 c.2352G>A c.(2350-2352)CAG>CAA p.Q784Q LIMCH1_uc003gvv.3_Silent_p.Q784Q|LIMCH1_uc003gvw.3_Silent_p.Q783Q|LIMCH1_uc003gvx.3_Silent_p.Q796Q|LIMCH1_uc003gwe.3_Intron|LIMCH1_uc003gvy.3_Silent_p.Q612Q|LIMCH1_uc003gwa.3_Silent_p.Q624Q|LIMCH1_uc003gvz.3_Silent_p.Q1168Q|LIMCH1_uc011byu.1_Silent_p.Q617Q|LIMCH1_uc003gwc.3_Silent_p.Q629Q|LIMCH1_uc003gwd.3_Silent_p.Q617Q|LIMCH1_uc011byv.1_Silent_p.Q534Q|LIMCH1_uc011byw.1_Silent_p.Q83Q NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 784 Glu-rich. actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 AACAGGAACAGGAACGTTTGC 0.423 PDGFRA 5156 broad.mit.edu 37 4 55133804 55133804 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:55133804G>A uc003han.3 + 7 1348 c.1017G>A c.(1015-1017)GTG>GTA p.V339V PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Silent_p.V233V|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 339 Ig-like C2-type 4.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TTGTAGAGGTGCGGGCCTACC 0.448 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) KIAA1211 57482 broad.mit.edu 37 4 57179385 57179385 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:57179385G>A uc003hbk.2 + 7 768 c.377G>A c.(376-378)CGG>CAG p.R126Q KIAA1211_uc010iha.2_Missense_Mutation_p.R119Q|KIAA1211_uc011bzz.1_Missense_Mutation_p.R36Q|KIAA1211_uc003hbm.1_Missense_Mutation_p.R12Q NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 126 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) AAACCGTCTCGGCCAAAAAGG 0.537 LPHN3 23284 broad.mit.edu 37 4 62453059 62453059 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:62453059A>C uc010ihh.2 + 2 343 c.170A>C c.(169-171)AAC>ACC p.N57T LPHN3_uc003hcq.3_Missense_Mutation_p.N57T|LPHN3_uc010ihg.1_Missense_Mutation_p.N125T NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 57 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GAAAGTGCCAACTATGGCAGG 0.463 EPHA5 2044 broad.mit.edu 37 4 66233108 66233108 + Nonsense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:66233108C>A uc003hcy.2 - 10 2084 c.1891G>T c.(1891-1893)GAA>TAA p.E631* EPHA5_uc003hcx.2_Nonsense_Mutation_p.E563*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E609*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E632*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E610*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E632* NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 631 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TTTTCCTCTTCTGGATCTTGT 0.358 TSP Lung(17;0.13) YTHDC1 91746 broad.mit.edu 37 4 69182138 69182138 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:69182138G>A uc003hdx.2 - 16 2206 c.1853C>T c.(1852-1854)CCA>CTA p.P618L YTHDC1_uc003hdy.2_Missense_Mutation_p.P600L NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 618 Pro-rich. upper_aerodigestive_tract(1)|ovary(1) 2 AGGATGGTGTGGAGGTTGTTC 0.443 NUP54 53371 broad.mit.edu 37 4 77053839 77053839 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:77053839C>T uc003hjs.2 - 6 872 c.744G>A c.(742-744)TCG>TCA p.S248S NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_Silent_p.S68S|NUP54_uc011cbt.1_Silent_p.S200S|NUP54_uc003hjt.2_Silent_p.S68S NM_017426 NP_059122 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 248 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ovary(1)|lung(1) 2 TACCATTTGGCGAACGCTCAA 0.373 FRAS1 80144 broad.mit.edu 37 4 79400860 79400860 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:79400860A>C uc003hlb.2 + 56 8871 c.8431A>C c.(8431-8433)AGT>CGT p.S2811R NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2806 Calx-beta 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TTTCACTGTCAGTGAGGACGC 0.522 SEC31A 22872 broad.mit.edu 37 4 83748700 83748700 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:83748700T>C uc003hnf.2 - 24 3277 c.3113A>G c.(3112-3114)CAA>CGA p.Q1038R SEC31A_uc003hnd.2_Missense_Mutation_p.Q207R|SEC31A_uc003hne.2_Missense_Mutation_p.Q787R|SEC31A_uc011ccl.1_Missense_Mutation_p.Q984R|SEC31A_uc003hnl.2_Missense_Mutation_p.Q885R|SEC31A_uc003hng.2_Missense_Mutation_p.Q1023R|SEC31A_uc003hnh.2_Missense_Mutation_p.Q1038R|SEC31A_uc003hni.2_Missense_Mutation_p.Q924R|SEC31A_uc003hnj.2_Missense_Mutation_p.Q999R|SEC31A_uc011ccm.1_Missense_Mutation_p.Q1018R|SEC31A_uc011ccn.1_Missense_Mutation_p.Q1023R|SEC31A_uc003hnk.2_Missense_Mutation_p.Q999R|SEC31A_uc003hnm.2_Missense_Mutation_p.Q1038R NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 1038 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) TGAAGGCTGTTGCTGCAGCAT 0.522 MEPE 56955 broad.mit.edu 37 4 88766899 88766899 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:88766899T>C uc003hqy.2 + 4 918 c.879T>C c.(877-879)AGT>AGC p.S293S MEPE_uc010ikn.2_Silent_p.S180S NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 293 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AAGCTGAGAGTACTCATCTTG 0.433 HERC5 51191 broad.mit.edu 37 4 89380524 89380524 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:89380524A>G uc003hrt.2 + 2 445 c.292A>G c.(292-294)AAG>GAG p.K98E NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 98 RCC1 1. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) AAAAAACATGAAGATACATTC 0.353 RAP1GDS1 5910 broad.mit.edu 37 4 99363141 99363141 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:99363141A>C uc003htx.3 + 15 1887 c.1697A>C c.(1696-1698)GAA>GCA p.E566A RAP1GDS1_uc003htw.3_Missense_Mutation_p.E567A|RAP1GDS1_uc003htv.3_Missense_Mutation_p.E566A|RAP1GDS1_uc003htz.3_Missense_Mutation_p.E517A|RAP1GDS1_uc003hty.3_Missense_Mutation_p.E518A|RAP1GDS1_uc003hua.3_Missense_Mutation_p.E475A NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 566 binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) TGTCTTCCAGAATGTCTACAC 0.363 T NUP98 T-ALL SEC24B 10427 broad.mit.edu 37 4 110437687 110437687 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:110437687C>T uc003hzk.2 + 11 2072 c.2017C>T c.(2017-2019)CGT>TGT p.R673C SEC24B_uc003hzl.2_Missense_Mutation_p.R638C|SEC24B_uc011cfp.1_Missense_Mutation_p.R703C|SEC24B_uc011cfq.1_Missense_Mutation_p.R672C|SEC24B_uc011cfr.1_Missense_Mutation_p.R637C NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 673 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTTTCAGCTGCGTCCTCCTCA 0.318 CFI 3426 broad.mit.edu 37 4 110682737 110682737 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:110682737A>G uc003hzr.3 - 4 802 c.594T>C c.(592-594)TTT>TTC p.F198F CFI_uc003hzq.2_5'UTR|CFI_uc011cft.1_Silent_p.F198F|CFI_uc003hzs.3_Silent_p.F198F NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 198 SRCR. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TTCTCTTAGTAAAAGTACATT 0.398 C4orf21 55345 broad.mit.edu 37 4 113539186 113539186 + Missense_Mutation SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:113539186A>T uc003iau.2 - 6 2223 c.2012T>A c.(2011-2013)ATT>AAT p.I671N C4orf21_uc003iaw.2_Missense_Mutation_p.I671N NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ATCATAGTTAATTCTGACTTC 0.303 ANK2 287 broad.mit.edu 37 4 114290799 114290799 + Silent SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:114290799A>T uc003ibe.3 + 43 11548 c.11448A>T c.(11446-11448)ACA>ACT p.T3816T ANK2_uc003ibd.3_Silent_p.T1722T|ANK2_uc003ibf.3_Silent_p.T1731T|ANK2_uc011cgc.1_Silent_p.T907T|ANK2_uc003ibg.3_Silent_p.T715T|ANK2_uc003ibh.3_Silent_p.T405T|ANK2_uc011cgd.1_Silent_p.T1118T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3783 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) AGACCCCAACATCCAGCGAGC 0.567 NDST4 64579 broad.mit.edu 37 4 115997561 115997561 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:115997561T>G uc003ibu.2 - 2 1311 c.632A>C c.(631-633)GAG>GCG p.E211A NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 211 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGGGCCTTTCTCAACCTTGGG 0.408 SYNPO2 171024 broad.mit.edu 37 4 119951913 119951913 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:119951913C>T uc003icm.3 + 4 2179 c.1983C>T c.(1981-1983)TAC>TAT p.Y661Y SYNPO2_uc010ina.2_Silent_p.Y661Y|SYNPO2_uc010inb.2_Silent_p.Y661Y|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.Y589Y NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 661 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 CAGCCTTTTACGATTCGTCTG 0.572 PCDH10 57575 broad.mit.edu 37 4 134071388 134071388 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:134071388C>T uc003iha.2 + 1 919 c.93C>T c.(91-93)GGC>GGT p.G31G uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.G31G NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 31 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AGGAACATGGCACTTTCGTGG 0.493 FBXW7 55294 broad.mit.edu 37 4 153245514 153245514 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:153245514A>G uc003ims.2 - 11 1826 c.1677T>C c.(1675-1677)CTT>CTC p.L559L FBXW7_uc011cii.1_Silent_p.L559L|FBXW7_uc003imt.2_Silent_p.L559L|FBXW7_uc011cih.1_Silent_p.L383L|FBXW7_uc003imq.2_Silent_p.L479L|FBXW7_uc003imr.2_Silent_p.L441L NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 559 WD 5. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TTGATGTATCAAGAGATCCAC 0.398 Mis|N|D|F colorectal|endometrial|T-ALL RNF175 285533 broad.mit.edu 37 4 154649450 154649450 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:154649450G>A uc003int.2 - 4 683 c.310C>T c.(310-312)CGG>TGG p.R104W RNF175_uc003inu.1_Intron NM_173662 NP_775933 Q8N4F7 RN175_HUMAN ring finger protein 175 104 Helical; (Potential). integral to membrane zinc ion binding ovary(1)|pancreas(1) 2 all_hematologic(180;0.093) Renal(120;0.118) GACAGAAACCGCCACCAGTAT 0.448 DCHS2 54798 broad.mit.edu 37 4 155163803 155163803 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:155163803T>C uc003inw.2 - 22 5698 c.5698A>G c.(5698-5700)ATT>GTT p.I1900V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1900 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCTTCTGTAATTTCCACTGCT 0.308 PLRG1 5356 broad.mit.edu 37 4 155463418 155463418 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:155463418T>C uc003iny.2 - 8 671 c.608A>G c.(607-609)CAT>CGT p.H203R PLRG1_uc003inz.2_Missense_Mutation_p.H194R|PLRG1_uc011cil.1_Missense_Mutation_p.H42R NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 203 WD 1. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) CCAGCCAAGATGCCCACTGAT 0.403 TRIM60 166655 broad.mit.edu 37 4 165961252 165961252 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:165961252C>A uc003iqy.1 + 3 198 c.28C>A c.(28-30)CTC>ATC p.L10I TRIM60_uc010iqx.1_Missense_Mutation_p.L10I NM_152620 NP_689833 Q495X7 TRI60_HUMAN ring finger protein 129 10 intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) CCTGGTGAACCTCCAAGAGGA 0.522 WDR17 116966 broad.mit.edu 37 4 177056319 177056319 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:177056319A>G uc003iuj.2 + 9 1387 c.1231A>G c.(1231-1233)ACA>GCA p.T411A WDR17_uc003iuk.2_Missense_Mutation_p.T387A|WDR17_uc003ium.3_Missense_Mutation_p.T387A|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 411 WD 6. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCTTTTAGCAACAGCTTCATT 0.363 VEGFC 7424 broad.mit.edu 37 4 177649058 177649058 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:177649058C>T uc003ius.1 - 3 856 c.426G>A c.(424-426)AAG>AAA p.K142K NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 142 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) CTCCAAACTCCTTCCCCACAT 0.473 ODZ3 55714 broad.mit.edu 37 4 183574966 183574966 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:183574966A>C uc003ivd.1 + 5 1068 c.1031A>C c.(1030-1032)GAA>GCA p.E344A NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 344 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CAGCAGACTGAAAATGACACA 0.418 ZFP42 132625 broad.mit.edu 37 4 188924640 188924640 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:188924640G>A uc003izg.1 + 3 924 c.679G>A c.(679-681)GTT>ATT p.V227I ZFP42_uc003izh.1_Missense_Mutation_p.V227I|ZFP42_uc003izi.1_Missense_Mutation_p.V227I NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 227 C2H2-type 2. female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GAAAGCGTTCGTTGAGAGCTC 0.502 TRIML2 205860 broad.mit.edu 37 4 189012969 189012969 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:189012969G>A uc003izl.2 - 7 758 c.722C>T c.(721-723)GCC>GTC p.A241V TRIML2_uc003izj.1_Missense_Mutation_p.A69V|TRIML2_uc003izk.1_Missense_Mutation_p.A49V|TRIML2_uc011cle.1_Missense_Mutation_p.A316V NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 241 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CAGCACCATGGCACTGAAATC 0.567 TRIML1 339976 broad.mit.edu 37 4 189060814 189060814 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:189060814C>T uc003izm.1 + 1 217 c.102C>T c.(100-102)AGC>AGT p.S34S NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 34 RING-type. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GTGGGCACAGCTTTTGTCTGG 0.522 PLEKHG4B 153478 broad.mit.edu 37 5 182314 182314 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:182314G>A uc003jak.2 + 18 3742 c.3692G>A c.(3691-3693)TGG>TAG p.W1231* NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 1231 Ser-rich. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CACAGCCCCTGGTCATCTGAT 0.642 KIAA0947 23379 broad.mit.edu 37 5 5469044 5469044 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:5469044G>A uc003jdm.3 + 15 6387 c.6165G>A c.(6163-6165)AGG>AGA p.R2055R NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2055 ovary(1)|central_nervous_system(1) 2 TAGTTGCCAGGCAACGTGCTA 0.363 PAPD7 11044 broad.mit.edu 37 5 6746416 6746416 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:6746416T>C uc003jdx.1 + 7 714 c.585T>C c.(583-585)AAT>AAC p.N195N PAPD7_uc011cmn.1_Silent_p.N186N|PAPD7_uc010itl.1_Silent_p.N15N NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 195 PAP-associated. cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 GAAATTTTAATTACTTGAAAA 0.418 OREG0016494 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TRIO 7204 broad.mit.edu 37 5 14363893 14363893 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:14363893A>G uc003jff.2 + 14 2450 c.2444A>G c.(2443-2445)GAC>GGC p.D815G TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.D766G|TRIO_uc003jfh.1_Missense_Mutation_p.D464G NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 815 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CAAATGAATGACTTCGACACA 0.428 CDH12 1010 broad.mit.edu 37 5 21752243 21752243 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:21752243T>C uc010iuc.2 - 12 2446 c.1988A>G c.(1987-1989)GAA>GGA p.E663G CDH12_uc011cno.1_Missense_Mutation_p.E623G|CDH12_uc003jgk.2_Missense_Mutation_p.E663G|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 663 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CCCACCTCCTTCATCATCGTA 0.453 HNSCC(59;0.17) CDH12 1010 broad.mit.edu 37 5 21755909 21755909 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:21755909C>T uc010iuc.2 - 11 2134 c.1676G>A c.(1675-1677)CGC>CAC p.R559H CDH12_uc011cno.1_Missense_Mutation_p.R519H|CDH12_uc003jgk.2_Missense_Mutation_p.R559H|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 559 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TTGCTGCCTGCGGCTGTATCC 0.428 HNSCC(59;0.17) NPR3 4883 broad.mit.edu 37 5 32712163 32712163 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:32712163C>A uc003jhv.2 + 1 499 c.281C>A c.(280-282)CCG>CAG p.P94Q NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.P94Q NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 94 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) CGGCTTCTGCCGCCGGGCACT 0.667 DNAJC21 134218 broad.mit.edu 37 5 34937566 34937566 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:34937566C>T uc003jjc.2 + 5 801 c.574C>T c.(574-576)CGG>TGG p.R192W DNAJC21_uc003jjb.2_Missense_Mutation_p.R192W|DNAJC21_uc010iuu.1_Missense_Mutation_p.R76W NM_001012339 NP_001012339 Q5F1R6 DJC21_HUMAN DnaJ homology subfamily A member 5 isoform 2 192 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|skin(1) 2 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) CAAAAAGATTCGGGACAAAGC 0.423 UGT3A1 133688 broad.mit.edu 37 5 35954433 35954433 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:35954433A>G uc003jjv.1 - 7 1600 c.1443T>C c.(1441-1443)CAT>CAC p.H481H UGT3A1_uc003jjw.1_RNA NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 481 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGTACTGCTCATGCCAAGGCT 0.617 NIPBL 25836 broad.mit.edu 37 5 37022159 37022159 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:37022159C>T uc003jkl.3 + 28 5834 c.5335C>T c.(5335-5337)CGA>TGA p.R1779* NIPBL_uc003jkk.3_Nonsense_Mutation_p.R1779* NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1779 HEAT 1. brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCAGATCCTACGAGTTCTTGG 0.323 SGTB 54557 broad.mit.edu 37 5 65016588 65016588 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:65016588C>T uc003jud.2 - 2 267 c.47G>A c.(46-48)CGG>CAG p.R16Q NLN_uc003jue.2_5'Flank|NLN_uc003juf.2_5'Flank NM_019072 NP_061945 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat 16 TPR 1. binding 0 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) ACTTTGTTCCCGTAAGAAACG 0.338 CRHBP 1393 broad.mit.edu 37 5 76250013 76250013 + Splice_Site SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:76250013T>C uc003ker.2 + 3 613 c.333_splice c.e3+2 p.K111_splice CRHBP_uc010izx.2_Splice_Site_p.K111_splice NM_001882 NP_001873 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein female pregnancy|learning or memory|signal transduction soluble fraction 0 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) TTCCTGAAGGTGAGGCGCCCA 0.657 PAPD4 167153 broad.mit.edu 37 5 78981033 78981033 + Missense_Mutation SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:78981033A>T uc010jae.1 + 16 1810 c.1392A>T c.(1390-1392)AGA>AGT p.R464S PAPD4_uc003kgb.2_Missense_Mutation_p.R464S|PAPD4_uc010jaf.1_Missense_Mutation_p.R464S|PAPD4_uc003kga.2_Missense_Mutation_p.R460S|PAPD4_uc003kfz.2_Missense_Mutation_p.R421S NM_001114393 NP_001107865 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 464 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity ovary(1) 1 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) CATGGCACAGATTGAAAAACA 0.323 RASA1 5921 broad.mit.edu 37 5 86629108 86629108 + Nonsense_Mutation SNP C C T rs137853218 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:86629108C>T uc003kiw.2 + 4 971 c.853C>T c.(853-855)CGA>TGA p.R285* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R108*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R118*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R119*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R108* NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 285 SH3. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) AAGGCGTGTACGAGCTATTCT 0.313 LIX1 167410 broad.mit.edu 37 5 96430680 96430680 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:96430680G>T uc003kmy.3 - 6 861 c.621C>A c.(619-621)GCC>GCA p.A207A NM_153234 NP_694966 Q8N485 LIX1_HUMAN limb expression 1 207 ovary(1) 1 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) TCCAGTCCAGGGCCATGTGGC 0.507 CHD1 1105 broad.mit.edu 37 5 98206418 98206418 + Silent SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:98206418A>C uc003knf.2 - 28 4099 c.3951T>G c.(3949-3951)CTT>CTG p.L1317L CHD1_uc010jbn.2_Silent_p.L43L NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1317 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CTTTTTTTGCAAGATCTCTAC 0.383 SLCO6A1 133482 broad.mit.edu 37 5 101735414 101735414 + Silent SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:101735414T>A uc003knn.2 - 10 1831 c.1659A>T c.(1657-1659)GGA>GGT p.G553G SLCO6A1_uc003kno.2_Silent_p.G300G|SLCO6A1_uc003knp.2_Silent_p.G553G|SLCO6A1_uc003knq.2_Silent_p.G491G NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 553 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CAGTTATTAATCCTTCTTTAA 0.323 WDR36 134430 broad.mit.edu 37 5 110440035 110440035 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:110440035C>A uc003kpd.2 + 8 1175 c.1058C>A c.(1057-1059)GCT>GAT p.A353D WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 353 WD 4. response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) ACAAATGGCGCTGACAATGCT 0.378 EPB41L4A 64097 broad.mit.edu 37 5 111570349 111570349 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:111570349C>A uc003kpv.1 - 12 1343 c.1069G>T c.(1069-1071)GCA>TCA p.A357S NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 357 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TGTGTTTGTGCTATTCGCTTA 0.453 MCC 4163 broad.mit.edu 37 5 112364690 112364690 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:112364690G>A uc003kqj.3 - 16 2780 c.2250C>T c.(2248-2250)AGC>AGT p.S750S MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.S940S NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 750 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GGATTTCACTGCTCTTGGTGA 0.478 YTHDC2 64848 broad.mit.edu 37 5 112902884 112902884 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:112902884T>C uc003kqn.2 + 22 3121 c.2938T>C c.(2938-2940)TAT>CAT p.Y980H NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 980 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GGCAGGCATGTATCCTAATTT 0.463 SRFBP1 153443 broad.mit.edu 37 5 121355909 121355909 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:121355909G>A uc003kst.1 + 6 551 c.479G>A c.(478-480)CGT>CAT p.R160H NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) AATTTACAGCGTGAAGCAACT 0.333 FSTL4 23105 broad.mit.edu 37 5 132648366 132648366 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:132648366C>T uc003kyn.1 - 6 925 c.707G>A c.(706-708)CGC>CAC p.R236H NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 236 extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTAGAACTCGCGGAGGGTCAG 0.532 KDM3B 51780 broad.mit.edu 37 5 137729022 137729022 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:137729022A>G uc003lcy.1 + 9 2992 c.2792A>G c.(2791-2793)GAT>GGT p.D931G KDM3B_uc010jew.1_Missense_Mutation_p.D587G|KDM3B_uc011cys.1_5'UTR NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 931 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 CAGGAGCAAGATGATTCTACT 0.488 EGR1 1958 broad.mit.edu 37 5 137802740 137802740 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:137802740C>A uc003ldb.1 + 2 872 c.602C>A c.(601-603)CCC>CAC p.P201H EGR1_uc011cyu.1_Intron NM_001964 NP_001955 P18146 EGR1_HUMAN early growth response 1 201 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GACAGCAGTCCCATTTACTCA 0.667 PCDHA4 56144 broad.mit.edu 37 5 140187861 140187861 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140187861T>C uc003lhi.2 + 1 1190 c.1089T>C c.(1087-1089)GCT>GCC p.A363A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A363A|PCDHA4_uc011daa.1_Silent_p.A363A NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 363 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAGGACGCTCCACTGGGTA 0.488 PCDHA9 9752 broad.mit.edu 37 5 140228550 140228550 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140228550C>T uc003lhu.2 + 1 1194 c.470C>T c.(469-471)GCG>GTG p.A157V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A157V NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 157 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAGAGGGCGCGTCCGATGCA 0.532 PCDHA10 56139 broad.mit.edu 37 5 140237067 140237067 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140237067G>A uc003lhx.2 + 1 1434 c.1434G>A c.(1432-1434)GCG>GCA p.A478A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.A478A|PCDHA10_uc011dad.1_Silent_p.A478A NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 478 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTGTCTGCGTGGGACGCGG 0.662 PCDHA11 56138 broad.mit.edu 37 5 140250883 140250883 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140250883C>T uc003lia.2 + 1 3053 c.2195C>T c.(2194-2196)GCG>GTG p.A732V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A732V NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 732 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGCGTGCGCGCCGGGGAAG 0.677 PCDHB6 56130 broad.mit.edu 37 5 140531449 140531449 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140531449G>A uc003lir.2 + 1 1611 c.1611G>A c.(1609-1611)CCG>CCA p.P537P PCDHB6_uc011dah.1_Silent_p.P401P NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 537 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCTCCCCGGCGTTGAGCA 0.672 PCDHB13 56123 broad.mit.edu 37 5 140594940 140594940 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140594940G>A uc003lja.1 + 1 1432 c.1245G>A c.(1243-1245)GCG>GCA p.A415A NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 415 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAGCAGAGCGGAATACAACA 0.483 PCDHGB2 56103 broad.mit.edu 37 5 140739873 140739873 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140739873C>T uc003ljs.1 + 1 171 c.171C>T c.(169-171)AGC>AGT p.S57S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Silent_p.S57S NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 57 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGGCTCAGCGTCCGGGACT 0.557 PCDHGB4 8641 broad.mit.edu 37 5 140769248 140769248 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140769248C>T uc003lkc.1 + 1 1797 c.1797C>T c.(1795-1797)AAC>AAT p.N599N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.N599N NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 599 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGACACAACGCCTGGCTGT 0.662 PCDHGA8 9708 broad.mit.edu 37 5 140772597 140772597 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140772597C>T uc003lkd.1 + 1 1115 c.217C>T c.(217-219)CAG>TAG p.Q73* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Nonsense_Mutation_p.Q73* NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 73 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTAGGACGCAGCTCTTTGC 0.607 PCDHGA12 26025 broad.mit.edu 37 5 140812558 140812558 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140812558C>T uc003lkt.1 + 1 2401 c.2232C>T c.(2230-2232)GAC>GAT p.D744D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.D744D NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 744 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCGTGGACGGGGTGCAGG 0.642 FCHSD1 89848 broad.mit.edu 37 5 141028998 141028998 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:141028998A>G uc003llk.2 - 5 390 c.339T>C c.(337-339)GGT>GGC p.G113G FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 113 FCHSD1/BRAF(2) skin(2)|ovary(1)|central_nervous_system(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGCCCTGTACCCCCTGCTA 0.627 PCDH1 5097 broad.mit.edu 37 5 141233894 141233894 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:141233894G>T uc003llp.2 - 5 3544 c.3427C>A c.(3427-3429)CGC>AGC p.R1143S NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TTGGTCCGGCGGCTGGGAGAT 0.657 SPINK5 11005 broad.mit.edu 37 5 147499622 147499622 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:147499622C>T uc003lox.2 + 25 2437 c.2364C>T c.(2362-2364)TGC>TGT p.C788C SPINK5_uc010jgr.2_Silent_p.C769C|SPINK5_uc003low.2_Silent_p.C788C|SPINK5_uc003loy.2_Silent_p.C788C NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 788 Kazal-like 12. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACTCATCTGCACTCGAGAAA 0.378 PCYOX1L 78991 broad.mit.edu 37 5 148747916 148747916 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:148747916G>A uc003lqk.2 + 6 1246 c.1184G>A c.(1183-1185)CGA>CAA p.R395Q PCYOX1L_uc003lql.2_Missense_Mutation_p.R378Q|PCYOX1L_uc010jgz.2_Missense_Mutation_p.R319Q|PCYOX1L_uc003lqm.2_Missense_Mutation_p.R277Q|PCYOX1L_uc003lqn.2_Missense_Mutation_p.R305Q NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 395 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGTTTGGCGAGTCCAGTCC 0.572 OREG0016912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PDE6A 5145 broad.mit.edu 37 5 149314176 149314176 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:149314176C>T uc003lrg.3 - 2 700 c.580G>A c.(580-582)GCT>ACT p.A194T NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 194 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TTATTCACAGCCATGATTATG 0.458 FAT2 2196 broad.mit.edu 37 5 150887067 150887067 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:150887067G>A uc003lue.3 - 22 12178 c.12165C>T c.(12163-12165)GCC>GCT p.A4055A GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.A662A NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 4055 Helical; (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGAACGCCACGGCCACTGTGA 0.572 ITK 3702 broad.mit.edu 37 5 156608073 156608073 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:156608073C>T uc003lwo.1 + 1 167 c.85C>T c.(85-87)CGC>TGC p.R29C NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 29 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTTAAAGTCCGCTTCTTTGT 0.398 T SYK peripheral T-cell lymphoma SOX30 11063 broad.mit.edu 37 5 157078490 157078490 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:157078490C>T uc003lxb.1 - 1 939 c.597G>A c.(595-597)GGG>GGA p.G199G SOX30_uc003lxc.1_Silent_p.G199G|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 199 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTTGCCTGCCCCGCCTTGCA 0.657 RNF145 153830 broad.mit.edu 37 5 158588398 158588398 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:158588398C>T uc003lxp.2 - 10 1815 c.1502G>A c.(1501-1503)CGG>CAG p.R501Q RNF145_uc011ddy.1_Missense_Mutation_p.R515Q|RNF145_uc003lxo.1_Missense_Mutation_p.R529Q|RNF145_uc011ddz.1_Missense_Mutation_p.R518Q|RNF145_uc010jiq.1_Missense_Mutation_p.R531Q NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 501 Helical; (Potential). integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCTGGGCCCGAAGCCACAC 0.478 FABP6 2172 broad.mit.edu 37 5 159661892 159661892 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:159661892G>T uc003lya.1 + 3 437 c.309G>T c.(307-309)GAG>GAT p.E103D FABP6_uc003lxx.1_Missense_Mutation_p.E152D|FABP6_uc003lxz.1_Missense_Mutation_p.E152D NM_001445 NP_001436 P51161 FABP6_HUMAN gastrotropin isoform 2 103 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGACCTCAGAGATCGTGGGTG 0.522 GABRP 2568 broad.mit.edu 37 5 170232795 170232795 + Missense_Mutation SNP G G A rs150667747 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:170232795G>A uc003mau.2 + 7 815 c.617G>A c.(616-618)CGG>CAG p.R206Q GABRP_uc011dev.1_Missense_Mutation_p.R206Q NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 206 Extracellular (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAACACCTGCGGCTTGCTCAG 0.483 NOP16 51491 broad.mit.edu 37 5 175811191 175811191 + Missense_Mutation SNP C C T rs140981968 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:175811191C>T uc003mee.2 - 5 490 c.490G>A c.(490-492)GGA>AGA p.G164R NOP16_uc003med.2_Missense_Mutation_p.G163R Q9Y3C1 NOP16_HUMAN SubName: Full=NOP16 protein; SubName: Full=Putative uncharacterized protein HSPC111; Error:Variant_position_missing_in_Q9Y3C1_after_alignment nucleolus ovary(1)|central_nervous_system(1) 2 TTCACTGGTCCGGGGGACGCC 0.582 DDX41 51428 broad.mit.edu 37 5 176940713 176940713 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:176940713G>A uc003mho.2 - 10 1092 c.1071C>T c.(1069-1071)GAC>GAT p.D357D DDX41_uc003mhm.2_Silent_p.D137D|DDX41_uc003mhn.2_Silent_p.D226D|DDX41_uc003mhp.2_Silent_p.D226D|DDX41_uc003mhq.1_Silent_p.D137D NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 357 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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)|Epithelial(233;0.191) TGGTACGGATGTCACCCTCGA 0.622 GRM6 2916 broad.mit.edu 37 5 178410138 178410138 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:178410138G>T uc003mjr.2 - 9 2388 c.2209C>A c.(2209-2211)CAG>AAG p.Q737K GRM6_uc003mjq.2_Missense_Mutation_p.Q140K NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 737 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) CCTCTGGCCTGCTCGGGGTCC 0.627 GRM6 2916 broad.mit.edu 37 5 178415995 178415995 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:178415995G>A uc003mjr.2 - 6 1474 c.1295C>T c.(1294-1296)GCG>GTG p.A432V GRM6_uc010jla.1_Missense_Mutation_p.A15V|GRM6_uc003mjs.1_Missense_Mutation_p.A52V NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 432 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) GGGTTCCATCGCCGGGCACAG 0.622 FLT4 2324 broad.mit.edu 37 5 180047711 180047711 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:180047711G>A uc003mma.3 - 16 2383 c.2304C>T c.(2302-2304)TCC>TCT p.S768S FLT4_uc003mlz.3_Silent_p.S768S|FLT4_uc003mmb.1_Silent_p.S301S NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 768 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCTTATCCTCGGAGCCTGCGT 0.597 Congenital_Hereditary_Lymphedema TRIM7 81786 broad.mit.edu 37 5 180626983 180626983 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:180626983C>A uc003mmz.1 - 3 784 c.717G>T c.(715-717)GAG>GAT p.E239D TRIM7_uc003mmv.1_Missense_Mutation_p.E57D|TRIM7_uc003mmw.1_Missense_Mutation_p.E31D|TRIM7_uc003mmx.1_Missense_Mutation_p.E31D|TRIM7_uc003mmy.1_Missense_Mutation_p.E31D NM_203293 NP_976038 Q9C029 TRIM7_HUMAN tripartite motif-containing 7 isoform 1 239 Potential. cytoplasm|nucleus zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) GGGACAGTTCCTCCAGGCGGC 0.622 F13A1 2162 broad.mit.edu 37 6 6318878 6318878 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:6318878G>A uc003mwv.2 - 2 143 c.20C>T c.(19-21)ACC>ATC p.T7I F13A1_uc011dib.1_Missense_Mutation_p.T7I NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 7 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TCCAAAGGCGGTCCTGGAAGT 0.473 DSP 1832 broad.mit.edu 37 6 7585229 7585229 + Silent SNP C C T rs28763970 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:7585229C>T uc003mxp.1 + 24 8013 c.7734C>T c.(7732-7734)AGC>AGT p.S2578S DSP_uc003mxq.1_Silent_p.S1979S NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2578 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTGGTGTCAGCGATGATGTTT 0.478 TBC1D7 51256 broad.mit.edu 37 6 13321315 13321315 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:13321315G>T uc003naj.2 - 4 297 c.206C>A c.(205-207)CCA>CAA p.P69Q TBC1D7_uc011dis.1_RNA|TBC1D7_uc003nan.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nal.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nam.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nao.2_Missense_Mutation_p.P42Q|TBC1D7_uc010jpd.2_Missense_Mutation_p.P69Q|TBC1D7_uc003nap.2_Missense_Mutation_p.P42Q|TBC1D7_uc003naq.2_Missense_Mutation_p.P42Q NM_016495 NP_057579 Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 isoform a 69 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity ovary(1) 1 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) CTCGTGGTGTGGAGGCAAGAT 0.463 KIF13A 63971 broad.mit.edu 37 6 17826300 17826300 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:17826300G>A uc003ncg.3 - 15 1693 c.1588C>T c.(1588-1590)CGA>TGA p.R530* KIF13A_uc003ncf.2_Nonsense_Mutation_p.R530*|KIF13A_uc003nch.3_Nonsense_Mutation_p.R530*|KIF13A_uc003nci.3_Nonsense_Mutation_p.R530*|KIF13A_uc003ncj.2_Nonsense_Mutation_p.R206* NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 530 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CATAGGATTCGGTCACCATGC 0.413 DCDC2 51473 broad.mit.edu 37 6 24175061 24175061 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:24175061G>T uc003ndx.2 - 10 1630 c.1328C>A c.(1327-1329)GCT>GAT p.A443D DCDC2_uc003ndy.2_Missense_Mutation_p.A443D|DCDC2_uc003ndw.2_Missense_Mutation_p.A194D NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 443 cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) GTCTACATCAGCCTAGAAGAA 0.348 ALDH5A1 7915 broad.mit.edu 37 6 24528248 24528248 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:24528248C>T uc003neg.2 + 8 1225 c.1197C>T c.(1195-1197)GCC>GCT p.A399A ALDH5A1_uc003nef.2_Silent_p.A412A NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 399 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) TGAATGATGCCGTTTCTAAAG 0.413 LRRC16A 55604 broad.mit.edu 37 6 25540216 25540216 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:25540216G>A uc011djw.1 + 26 2614 c.2238G>A c.(2236-2238)GCG>GCA p.A746A LRRC16A_uc010jpx.2_Silent_p.A746A|LRRC16A_uc010jpy.2_Silent_p.A746A|LRRC16A_uc003nfa.1_Silent_p.A100A NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 746 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 CATCTTGGGCGGGAGCCAGTG 0.398 HIST1H2BB 3018 broad.mit.edu 37 6 26043776 26043776 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:26043776C>A uc003nfu.2 - 1 110 c.110G>T c.(109-111)AGC>ATC p.S37I HIST1H3C_uc003nfv.2_5'Flank NM_021062 NP_066406 P33778 H2B1B_HUMAN histone cluster 1, H2bb 37 nucleosome assembly nucleosome|nucleus DNA binding 0 GATAGAATAGCTCTCCTTGCG 0.512 BTN2A1 11120 broad.mit.edu 37 6 26468202 26468202 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:26468202G>A uc003nib.1 + 8 1221 c.1009G>A c.(1009-1011)GCT>ACT p.A337T BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.A185T|BTN2A1_uc011dko.1_Missense_Mutation_p.A276T|BTN2A1_uc010jqk.1_Missense_Mutation_p.A97T NM_007049 NP_008980 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 isoform 1 337 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to plasma membrane ovary(1)|skin(1) 2 TCCAGACACCGCTCATCCCGA 0.577 PGBD1 84547 broad.mit.edu 37 6 28269790 28269790 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:28269790T>A uc003nky.2 + 7 2529 c.2159T>A c.(2158-2160)ATC>AAC p.I720N PGBD1_uc003nkz.2_Missense_Mutation_p.I720N NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 720 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 AACGAAGAAATCCCTCAGATA 0.413 SCAND3 114821 broad.mit.edu 37 6 28541299 28541299 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:28541299T>C uc003nlo.2 - 4 2985 c.2367A>G c.(2365-2367)TCA>TCG p.S789S NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 789 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 cttttggttgtgaacttattt 0 OR2B3 442184 broad.mit.edu 37 6 29054462 29054462 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:29054462T>C uc003nlx.2 - 1 629 c.564A>G c.(562-564)TCA>TCG p.S188S NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 TGTCAGCACATGACAACTTGA 0.458 MAS1L 116511 broad.mit.edu 37 6 29455673 29455673 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:29455673A>G uc011dlq.1 - 1 7 c.7T>C c.(7-9)TGG>CGG p.W3R NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 3 Extracellular (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 ATTTTCCCCCAGACCATGGGG 0.547 ZFP57 346171 broad.mit.edu 37 6 29641061 29641061 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:29641061C>T uc011dlw.1 - 4 978 c.827G>A c.(826-828)CGC>CAC p.R276H ZFP57_uc003nnl.3_Missense_Mutation_p.R256H NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 192 C2H2-type 4. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding p.R276R(1) ovary(3)|skin(2) 5 CTTCTGGTGGCGTTTGAGCTC 0.567 HLA-G 3135 broad.mit.edu 37 6 29795994 29795994 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:29795994G>A uc003nnw.2 + 3 422 c.244G>A c.(244-246)GAG>AAG p.E82K HLA-G_uc011dmb.1_Missense_Mutation_p.E54K|HLA-G_uc003raj.3_Missense_Mutation_p.E87K|HLA-G_uc003nnz.3_Missense_Mutation_p.E82K|HLA-G_uc010jrn.2_Missense_Mutation_p.E82K|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 82 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity ovary(3)|central_nervous_system(1) 4 GGAGGGGCCGGAGTATTGGGA 0.647 MDC1 9656 broad.mit.edu 37 6 30671881 30671881 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:30671881C>T uc003nrg.3 - 10 5519 c.5079G>A c.(5077-5079)CCG>CCA p.P1693P MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.P1300P NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1693 cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TGGTAGGAACCGGCATAGCTC 0.542 Other_conserved_DNA_damage_response_genes VARS2 57176 broad.mit.edu 37 6 30890973 30890973 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:30890973T>C uc003nsc.1 + 23 2910 c.2278T>C c.(2278-2280)TTA>CTA p.L760L VARS2_uc011dmx.1_Silent_p.L760L|VARS2_uc011dmy.1_Silent_p.L620L|VARS2_uc011dmz.1_Silent_p.L790L|VARS2_uc011dna.1_Silent_p.L758L|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.L198L|VARS2_uc010jsg.1_Silent_p.L132L|VARS2_uc010jsh.1_5'UTR NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 760 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 CCTCAATGCTTTAGGGGAGAA 0.532 ATP6V1G2 534 broad.mit.edu 37 6 31513913 31513913 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:31513913C>A uc003nua.2 - 2 447 c.156G>T c.(154-156)GAG>GAT p.E52D BAT1_uc003ntv.2_5'UTR|ATP6V1G2_uc003ntz.2_Missense_Mutation_p.E11D|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank NM_130463 NP_569730 O95670 VATG2_HUMAN ATPase, H+ transporting, lysosomal, V1 subunit 52 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding 0 GGAATTCGTGCTCTCGCTCTC 0.582 EHMT2 10919 broad.mit.edu 37 6 31855364 31855364 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:31855364G>A uc003nxz.1 - 15 2011 c.2001C>T c.(1999-2001)ATC>ATT p.I667I EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.I458I|EHMT2_uc011don.1_Silent_p.I690I|EHMT2_uc003nya.1_Silent_p.I633I NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 667 ANK 1. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 ACAGCATCAGGATCACCTTCT 0.383 C4A 720 broad.mit.edu 37 6 31994882 31994882 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:31994882C>T uc011dpd.1 + 20 2626 c.2575C>T c.(2575-2577)CTG>TTG p.L859L C4A_uc011dpe.1_Silent_p.L859L NM_007293 NP_009224 P0C0L4 CO4A_HUMAN complement component 4A preproprotein 859 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity 0 CTATAACTACCTGGATAAAAA 0.637 NOTCH4 4855 broad.mit.edu 37 6 32164828 32164828 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:32164828T>C uc003obb.2 - 28 5213 c.5074A>G c.(5074-5076)ACT>GCT p.T1692A GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Missense_Mutation_p.T101A|NOTCH4_uc003oba.2_Missense_Mutation_p.T352A|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_Missense_Mutation_p.T101A NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1692 Cytoplasmic (Potential).|ANK 2. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 TCCACTGCAGTTTGTCTGCTA 0.592 HLA-DRA 3122 broad.mit.edu 37 6 32410443 32410443 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:32410443C>T uc003obh.2 + 2 382 c.301C>T c.(301-303)CGC>TGC p.R101C HLA-DRA_uc003obi.2_Missense_Mutation_p.R101C NM_019111 NP_061984 P01903 DRA_HUMAN major histocompatibility complex, class II, DR 101 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity ovary(1)|skin(1) 2 CATGACAAAGCGCTCCAACTA 0.488 T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of BRD2 6046 broad.mit.edu 37 6 32943277 32943277 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:32943277C>T uc003ocn.3 + 4 2151 c.450C>T c.(448-450)ACC>ACT p.T150T BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.T150T|BRD2_uc003ocp.3_Silent_p.T30T|BRD2_uc010juh.2_Silent_p.T150T NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 150 Bromo 1. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CCATGTTCACCAACTGTTACA 0.353 WDR46 9277 broad.mit.edu 37 6 33255222 33255222 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:33255222G>A uc003ods.2 - 8 833 c.789C>T c.(787-789)GAC>GAT p.D263D WDR46_uc011dra.1_Silent_p.D209D|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank NM_005452 NP_005443 O15213 WDR46_HUMAN WD repeat domain 46 isoform 1 263 WD 2. 0 TGCCCTGATTGTCATAGATGT 0.552 ITPR3 3710 broad.mit.edu 37 6 33658716 33658716 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:33658716A>G uc011drk.1 + 52 7274 c.7055A>G c.(7054-7056)GAG>GGG p.E2352G ITPR3_uc003oey.2_Missense_Mutation_p.E439G NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2352 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 ATCTACCGCGAGGAGACGCTG 0.607 SRPK1 6732 broad.mit.edu 37 6 35825051 35825051 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:35825051C>T uc003olj.2 - 13 1730 c.1607G>A c.(1606-1608)AGC>AAC p.S536N SRPK1_uc011dtg.1_Missense_Mutation_p.S520N|SRPK1_uc003olh.2_Missense_Mutation_p.S429N|SRPK1_uc003oli.2_Missense_Mutation_p.S429N NM_003137 NP_003128 Q96SB4 SRPK1_HUMAN SFRS protein kinase 1 536 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 GCATGCCGTGCTCCAAATGTC 0.398 PIM1 5292 broad.mit.edu 37 6 37139205 37139205 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:37139205T>C uc003onk.2 + 4 975 c.545T>C c.(544-546)CTC>CCC p.L182P PIM1_uc011dtw.1_5'Flank NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 273 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) CGCGGCGAGCTCAAGCTCATC 0.642 T BCL6 NHL FTSJD2 23070 broad.mit.edu 37 6 37445388 37445388 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:37445388T>C uc003ons.2 + 21 2379 c.2126T>C c.(2125-2127)CTG>CCG p.L709P NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 709 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GTGTACAGACTGGAAGAGATG 0.557 GLP1R 2740 broad.mit.edu 37 6 39041530 39041530 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:39041530G>A uc003ooj.3 + 7 868 c.808G>A c.(808-810)GTG>ATG p.V270M GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA NM_002062 NP_002053 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor precursor 270 Helical; Name=4; (Potential). activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled lung(3)|breast(1)|pancreas(1) 5 Exenatide(DB01276)|Glucagon recombinant(DB00040) CAGGCTCTACGTGAGCATAGG 0.567 FOXP4 116113 broad.mit.edu 37 6 41533642 41533642 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:41533642G>A uc003oql.2 + 2 602 c.144G>A c.(142-144)ACG>ACA p.T48T FOXP4_uc003oqm.2_Silent_p.T48T|FOXP4_uc003oqn.2_Silent_p.T48T NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN forkhead box P4 isoform 1 48 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) AAGTGACCACGGGTGCAGACA 0.637 PRICKLE4 29964 broad.mit.edu 37 6 41753259 41753259 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:41753259G>A uc011duf.1 + 6 811 c.563G>A c.(562-564)CGC>CAC p.R188H PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_5'Flank|TOMM6_uc011dug.1_5'Flank NM_013397 NP_037529 Q2TBC4 PRIC4_HUMAN over-expressed breast tumor protein 148 LIM zinc-binding 2. nucleus zinc ion binding 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGCGCCCGCGCTGCCCGGCT 0.612 TRERF1 55809 broad.mit.edu 37 6 42231260 42231260 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:42231260G>A uc003osd.2 - 8 2245 c.1682C>T c.(1681-1683)CCG>CTG p.P561L TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.P561L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 561 Pro-rich.|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) aggcggaggcggcagtggtgg 0.378 GNMT 27232 broad.mit.edu 37 6 42930849 42930849 + Missense_Mutation SNP C C T rs139815680 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:42930849C>T uc003otd.2 + 4 497 c.491C>T c.(490-492)GCG>GTG p.A164V uc003ote.1_5'Flank NM_018960 NP_061833 Q14749 GNMT_HUMAN glycine N-methyltransferase 164 protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process folic acid binding|glycine binding|glycine N-methyltransferase activity 0 Colorectal(47;0.196) all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461) Glycine(DB00145)|S-Adenosylmethionine(DB00118) AAAAACATTGCGAGCATGGTG 0.597 SLC22A7 10864 broad.mit.edu 37 6 43271811 43271811 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:43271811G>A uc003out.2 + 10 1520 c.1421G>A c.(1420-1422)CGG>CAG p.R474Q SLC22A7_uc003ous.2_Missense_Mutation_p.R472Q NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 474 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CTGGTGGGCCGGCTGGGGGGC 0.627 CD2AP 23607 broad.mit.edu 37 6 47563667 47563667 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:47563667T>C uc003oyw.2 + 12 1635 c.1179T>C c.(1177-1179)ACT>ACC p.T393T NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 393 Pro-rich.|SH3-binding (Potential). cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AGAAACCTACTCCACCTACCA 0.413 HMGCLL1 54511 broad.mit.edu 37 6 55300543 55300543 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:55300543C>T uc003pcn.2 - 10 1189 c.1030G>A c.(1030-1032)GTG>ATG p.V344M HMGCLL1_uc003pco.2_Missense_Mutation_p.V314M|HMGCLL1_uc010jzx.2_Missense_Mutation_p.V215M|HMGCLL1_uc011dxc.1_Missense_Mutation_p.V282M|HMGCLL1_uc011dxd.1_Missense_Mutation_p.V211M|HMGCLL1_uc011dxe.1_Missense_Mutation_p.V148M NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 344 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GCTTCCATCACTTTGTATAGA 0.358 BMP5 653 broad.mit.edu 37 6 55620338 55620338 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:55620338C>A uc003pcq.2 - 7 2070 c.1358G>T c.(1357-1359)TGC>TTC p.C453F BMP5_uc011dxf.1_Missense_Mutation_p.C416F NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 453 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) ATATTAGTGGCAGCCACATGA 0.328 DST 667 broad.mit.edu 37 6 56506814 56506814 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:56506814C>T uc003pdf.2 - 16 1887 c.1859G>A c.(1858-1860)CGC>CAC p.R620H DST_uc003pcz.3_Missense_Mutation_p.R442H|DST_uc011dxj.1_Missense_Mutation_p.R471H|DST_uc011dxk.1_Missense_Mutation_p.R482H|DST_uc011dxl.1_Missense_Mutation_p.R471H|DST_uc003pcy.3_Missense_Mutation_p.R116H|DST_uc003pdb.2_Missense_Mutation_p.R116H|DST_uc003pdc.3_Missense_Mutation_p.R116H|DST_uc003pdd.3_Missense_Mutation_p.R116H|DST_uc003pde.2_Missense_Mutation_p.R558H NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 442 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TACATGCTGGCGTAAAAGGTT 0.358 PHF3 23469 broad.mit.edu 37 6 64422545 64422545 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:64422545C>T uc003pep.1 + 15 5087 c.5061C>T c.(5059-5061)AAC>AAT p.N1687N PHF3_uc003pen.2_Silent_p.N1599N|PHF3_uc011dxs.1_Silent_p.N956N NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1687 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGTCACACAACAAGGAGCACT 0.428 EYS 346007 broad.mit.edu 37 6 66205020 66205020 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:66205020G>A uc011dxu.1 - 4 822 c.284C>T c.(283-285)TCT>TTT p.S95F EYS_uc003peq.2_Missense_Mutation_p.S95F|EYS_uc003per.1_Missense_Mutation_p.S95F|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 95 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 AAATTGAAGAGATGGTTCAGA 0.363 COL12A1 1303 broad.mit.edu 37 6 75893741 75893741 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:75893741C>T uc003phs.2 - 9 1283 c.1117G>A c.(1117-1119)GCA>ACA p.A373T COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.A31T NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 373 Fibronectin type-III 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CGGCTTCCTGCAGTCATTGGT 0.493 MYO6 4646 broad.mit.edu 37 6 76540214 76540214 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:76540214T>C uc003pih.1 + 5 622 c.343T>C c.(343-345)TAT>CAT p.Y115H MYO6_uc003pig.1_Missense_Mutation_p.Y115H|MYO6_uc003pii.1_Missense_Mutation_p.Y115H NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 115 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AATAAAGTCATATCAAGGAAA 0.308 IMPG1 3617 broad.mit.edu 37 6 76660365 76660365 + Missense_Mutation SNP G G A rs142123216 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:76660365G>A uc003pik.1 - 13 1868 c.1738C>T c.(1738-1740)CGT>TGT p.R580C NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 580 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTAGCAACACGCAGACTGAAG 0.517 TBX18 9096 broad.mit.edu 37 6 85446535 85446535 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:85446535C>T uc003pkl.1 - 8 1692 c.1692G>A c.(1690-1692)ACG>ACA p.T564T TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 564 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TCTGCCGATCCGTCATGGTCC 0.522 MDN1 23195 broad.mit.edu 37 6 90402760 90402760 + Missense_Mutation SNP A A T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:90402760A>T uc003pnn.1 - 63 10105 c.9989T>A c.(9988-9990)ATC>AAC p.I3330N NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3330 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTAGTGGTGGATCTCCTGAAC 0.572 FUT9 10690 broad.mit.edu 37 6 96651915 96651915 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:96651915C>A uc003pop.3 + 3 1225 c.884C>A c.(883-885)CCC>CAC p.P295H NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 295 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TATAACTCTCCCAGTGAGCTA 0.393 KLHL32 114792 broad.mit.edu 37 6 97562222 97562222 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:97562222G>A uc010kcm.1 + 7 1663 c.1191G>A c.(1189-1191)GAG>GAA p.E397E KLHL32_uc003poy.2_Silent_p.E397E|KLHL32_uc011ead.1_Silent_p.E361E|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.E328E|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 397 Kelch 2. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GTGCCATGGAGGAATACCTCT 0.517 POU3F2 5454 broad.mit.edu 37 6 99283635 99283635 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:99283635G>A uc003ppe.2 + 1 1056 c.886G>A c.(886-888)GGC>AGC p.G296S NM_005604 NP_005595 P20265 PO3F2_HUMAN POU domain, class 3, transcription factor 2 296 POU-specific. positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) GCTGGCTCTGGGCACCCTGTA 0.582 BVES 11149 broad.mit.edu 37 6 105577343 105577343 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:105577343G>A uc003pqw.2 - 3 419 c.262C>T c.(262-264)CGA>TGA p.R88* BVES_uc003pqx.2_Nonsense_Mutation_p.R88*|BVES_uc003pqy.2_Nonsense_Mutation_p.R88* NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 88 Helical; (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AAGGCACATCGGTAGAGAGTG 0.393 ARMC2 84071 broad.mit.edu 37 6 109285402 109285402 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:109285402G>A uc003pss.3 + 16 2346 c.2172G>A c.(2170-2172)GCG>GCA p.A724A ARMC2_uc011eao.1_Silent_p.A559A NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 724 ARM 11. binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) TCATGATGGCGCTGCTGGATG 0.473 ZBTB24 9841 broad.mit.edu 37 6 109787338 109787338 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:109787338T>C uc003ptl.1 - 7 1978 c.1810A>G c.(1810-1812)AAT>GAT p.N604D MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.N548D|ZBTB24_uc010kdt.1_RNA NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 604 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AGAATTAAATTCTGCAGTTGC 0.493 AKD1 221264 broad.mit.edu 37 6 109815261 109815261 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:109815261G>A uc003ptn.2 - 40 5533 c.5456C>T c.(5455-5457)GCG>GTG p.A1819V AKD1_uc011eas.1_Missense_Mutation_p.A204V NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1819 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TAAGCATCCCGCTGCATTCAT 0.368 DSE 29940 broad.mit.edu 37 6 116747964 116747964 + Missense_Mutation SNP C C T rs112379267 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:116747964C>T uc003pws.2 + 3 838 c.644C>T c.(643-645)ACG>ATG p.T215M DSE_uc011ebf.1_Missense_Mutation_p.T215M|DSE_uc011ebg.1_Missense_Mutation_p.T234M|DSE_uc003pwt.2_Missense_Mutation_p.T215M NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 215 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) GCTTTGCTCACGGGAAGCCTA 0.488 RSPH4A 345895 broad.mit.edu 37 6 116938281 116938281 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:116938281C>T uc003pxe.2 + 1 640 c.495C>T c.(493-495)GAC>GAT p.D165D RSPH4A_uc010kee.2_Silent_p.D165D NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 165 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 GACGAAGGGACGTGAGCTATA 0.478 Kartagener_syndrome NCOA7 135112 broad.mit.edu 37 6 126210800 126210800 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:126210800C>A uc010kes.2 + 11 2049 c.1600C>A c.(1600-1602)CCA>ACA p.P534T NCOA7_uc003qae.3_Missense_Mutation_p.P534T|NCOA7_uc003qah.2_Missense_Mutation_p.P523T|NCOA7_uc003qai.2_Missense_Mutation_p.P534T|NCOA7_uc010ket.2_Missense_Mutation_p.P419T NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 534 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CAAAGAAGGGCCACAGGTATC 0.378 TRMT11 60487 broad.mit.edu 37 6 126319758 126319758 + Silent SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:126319758T>G uc003qam.2 + 6 571 c.450T>G c.(448-450)TCT>TCG p.S150S TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Silent_p.S150S NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 150 tRNA processing methyltransferase activity|nucleic acid binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0356) ATGTATTTTCTGTTTTGGAGG 0.338 C6orf174 387104 broad.mit.edu 37 6 127797085 127797085 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:127797085C>T uc003qbd.2 - 6 2951 c.2086G>A c.(2086-2088)GCC>ACC p.A696T C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 696 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TCGGTCTTGGCGTTGTCGTGG 0.647 MOXD1 26002 broad.mit.edu 37 6 132645229 132645229 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:132645229T>C uc003qdf.2 - 7 1053 c.954A>G c.(952-954)ATA>ATG p.I318M MOXD1_uc003qde.2_Missense_Mutation_p.I250M NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 318 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) CAGAATTATCTATTAAGCCTA 0.348 SLC35D3 340146 broad.mit.edu 37 6 137243812 137243812 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:137243812G>A uc003qhe.2 + 1 411 c.246G>A c.(244-246)GCG>GCA p.A82A NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 82 Helical; (Potential). carbohydrate transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CGGGGGTCGCGGTGCTCTCCA 0.721 AIG1 51390 broad.mit.edu 37 6 143605337 143605337 + Missense_Mutation SNP A A G rs114392595 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:143605337A>G uc003qjh.2 + 4 530 c.490A>G c.(490-492)ACC>GCC p.T164A AIG1_uc003qjf.2_Missense_Mutation_p.T154A|AIG1_uc003qji.2_Missense_Mutation_p.T102A NM_016108 NP_057192 Q9NVV5 AIG1_HUMAN androgen-induced 1 164 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246) CGCCATATGTACCTTCTCTGT 0.428 STX11 8676 broad.mit.edu 37 6 144508353 144508353 + Missense_Mutation SNP G G A rs141499372 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:144508353G>A uc003qks.3 + 2 781 c.589G>A c.(589-591)GTG>ATG p.V197M NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 197 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GCTGGCCGACGTGAAGGGCGC 0.632 Familial_Hemophagocytic_Lymphohistiocytosis STXBP5 134957 broad.mit.edu 37 6 147612300 147612300 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:147612300T>C uc003qlz.2 + 9 1070 c.909T>C c.(907-909)ACT>ACC p.T303T STXBP5_uc010khz.1_Silent_p.T303T|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 303 WD 6. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TCAAAACGACTAGATCTGGGT 0.333 PLEKHG1 57480 broad.mit.edu 37 6 151130286 151130286 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:151130286A>G uc003qny.1 + 9 1270 c.958A>G c.(958-960)AGC>GGC p.S320G PLEKHG1_uc011eel.1_Missense_Mutation_p.S360G|PLEKHG1_uc011eem.1_Missense_Mutation_p.S379G|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S320G NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 320 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AGACCTGACCAGCTACGGGGA 0.557 SYNE1 23345 broad.mit.edu 37 6 152570298 152570298 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:152570298C>G uc010kiw.2 - 105 20172 c.19570G>C c.(19570-19572)GAG>CAG p.E6524Q SYNE1_uc010kiv.2_Missense_Mutation_p.E1048Q|SYNE1_uc003qos.3_Missense_Mutation_p.E1048Q|SYNE1_uc003qot.3_Missense_Mutation_p.E6453Q|SYNE1_uc003qou.3_Missense_Mutation_p.E6524Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6524 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATAAATACCTCTATTTGTTCT 0.358 HNSCC(10;0.0054) SYNE1 23345 broad.mit.edu 37 6 152765568 152765568 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:152765568T>G uc010kiw.2 - 30 4417 c.3815A>C c.(3814-3816)CAG>CCG p.Q1272P SYNE1_uc003qot.3_Missense_Mutation_p.Q1279P|SYNE1_uc003qou.3_Missense_Mutation_p.Q1272P|SYNE1_uc010kjb.1_Missense_Mutation_p.Q1255P|SYNE1_uc003qow.2_Missense_Mutation_p.Q567P|SYNE1_uc003qox.1_Missense_Mutation_p.Q788P NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1272 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAGTAACTGCTGTGCTTCAAA 0.353 HNSCC(10;0.0054) PARK2 5071 broad.mit.edu 37 6 161969941 161969941 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:161969941G>A uc003qtx.3 - 9 1162 c.1028C>T c.(1027-1029)CCG>CTG p.P343L PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.P152L|PARK2_uc003qtw.3_Missense_Mutation_p.P152L|PARK2_uc003qty.3_Missense_Mutation_p.P315L|PARK2_uc003qtz.3_Missense_Mutation_p.P194L|PARK2_uc010kke.1_Missense_Mutation_p.P362L|PARK2_uc011egf.1_Missense_Mutation_p.P17L NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 343 IBR-type. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GTCAGGCTCCGGCAGCAGCCC 0.637 PDE10A 10846 broad.mit.edu 37 6 165832261 165832261 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:165832261T>C uc003qun.2 - 12 1071 c.830A>G c.(829-831)TAT>TGT p.Y277C PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.Y207C|PDE10A_uc003quo.2_Missense_Mutation_p.Y287C NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 277 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GTTTTTTGCATATATCTAAAG 0.353 MAD1L1 8379 broad.mit.edu 37 7 2255914 2255914 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:2255914C>T uc003slh.1 - 8 953 c.687G>A c.(685-687)GAG>GAA p.E229E MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.E229E|MAD1L1_uc003slg.1_Silent_p.E229E|MAD1L1_uc010ksh.1_Silent_p.E229E|MAD1L1_uc003sli.1_Silent_p.E137E|MAD1L1_uc010ksi.1_Silent_p.E182E|MAD1L1_uc010ksj.2_Silent_p.E229E NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 229 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) ACAGCTTCTGCTCCAGATCCT 0.343 SDK1 221935 broad.mit.edu 37 7 4215451 4215451 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:4215451A>C uc003smx.2 + 34 5120 c.4981A>C c.(4981-4983)ATG>CTG p.M1661L SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Missense_Mutation_p.M148L NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1661 Fibronectin type-III 10. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CACATCGACGATGTGTGAACT 0.577 KIAA0415 9907 broad.mit.edu 37 7 4823986 4823986 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:4823986G>T uc003sne.2 + 6 857 c.774G>T c.(772-774)CCG>CCT p.P258P KIAA0415_uc010ksp.2_RNA NM_014855 NP_055670 O43299 K0415_HUMAN hypothetical protein LOC9907 258 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15) CCGAGGGCCCGGGCACCCTGG 0.697 RADIL 55698 broad.mit.edu 37 7 4917428 4917428 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:4917428C>T uc003snj.1 - 2 516 c.343G>A c.(343-345)GTG>ATG p.V115M RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 115 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TGGCCCACCACGTCACACAGC 0.672 DAGLB 221955 broad.mit.edu 37 7 6456270 6456270 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:6456270C>T uc003sqa.2 - 11 1585 c.1415G>A c.(1414-1416)CGG>CAG p.R472Q DAGLB_uc003spy.2_Missense_Mutation_p.R18Q|DAGLB_uc003spz.2_Missense_Mutation_p.R169Q|DAGLB_uc011jwt.1_Missense_Mutation_p.R286Q|DAGLB_uc011jwu.1_Missense_Mutation_p.R343Q|DAGLB_uc003sqb.2_Missense_Mutation_p.R191Q|DAGLB_uc003sqc.2_Missense_Mutation_p.R191Q|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.R431Q|DAGLB_uc011jww.1_RNA NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 472 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.R472R(1) ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CCACAGCCCCCGGGGTGGGGA 0.552 STK31 56164 broad.mit.edu 37 7 23826129 23826129 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:23826129C>A uc003sws.3 + 19 2344 c.2277C>A c.(2275-2277)GGC>GGA p.G759G STK31_uc003swt.3_Silent_p.G736G|STK31_uc011jze.1_Silent_p.G759G|STK31_uc010kuq.2_Silent_p.G736G|STK31_uc003swv.1_5'Flank NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 759 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 GGTACAAGGGCTATTCTGTGG 0.368 OSBPL3 26031 broad.mit.edu 37 7 24849497 24849497 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:24849497C>T uc003sxf.2 - 20 2651 c.2246G>A c.(2245-2247)CGG>CAG p.R749Q OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.R713Q|OSBPL3_uc003sxh.2_Missense_Mutation_p.R718Q|OSBPL3_uc003sxi.2_Missense_Mutation_p.R682Q NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 749 lipid transport lipid binding|protein binding skin(1) 1 CCCAAACAGCCGATGAACCGC 0.502 NOD1 10392 broad.mit.edu 37 7 30496526 30496526 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:30496526C>A uc003tav.2 - 4 535 c.12G>T c.(10-12)CAG>CAT p.Q4H NOD1_uc010kvs.2_Missense_Mutation_p.Q4H|NOD1_uc003tax.2_RNA|NOD1_uc003tay.2_RNA|NOD1_uc010kvt.2_RNA|NOD1_uc010kvu.2_RNA NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 4 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 CACTGTGGCCCTGCTCTTCCA 0.488 PGAM2 5224 broad.mit.edu 37 7 44105067 44105067 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:44105067C>T uc003tjs.2 - 1 97 c.62G>A c.(61-63)CGT>CAT p.R21H NM_000290 NP_000281 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 21 gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity 0 GCCACAGAAACGGTTCTCCTG 0.612 POLM 27434 broad.mit.edu 37 7 44112896 44112896 + Silent SNP G G A rs146318307 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:44112896G>A uc003tjt.2 - 11 1571 c.1479C>T c.(1477-1479)AAC>AAT p.N493N POLM_uc003tjw.1_Missense_Mutation_p.T130M|POLM_uc003tju.2_Silent_p.N456N|POLM_uc003tjx.2_Missense_Mutation_p.T431M|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.T161M NM_013284 NP_037416 Q9NP87 DPOLM_HUMAN DNA-directed DNA polymerase mu 493 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 AGGCTCAGGCGTTTCTCTGCT 0.562 DNA_polymerases_(catalytic_subunits) AEBP1 165 broad.mit.edu 37 7 44149841 44149841 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:44149841G>A uc003tkb.2 + 11 1601 c.1296G>A c.(1294-1296)GCG>GCA p.A432A AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 432 Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATGATGGTGCGTGGTGTGCCG 0.627 GBAS 2631 broad.mit.edu 37 7 56051483 56051483 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:56051483G>A uc003tre.1 + 6 515 c.507G>A c.(505-507)CTG>CTA p.L169L GBAS_uc003trf.1_Silent_p.L130L NM_001483 NP_001474 O75323 NIPS2_HUMAN nipsnap homolog 2 169 integral to plasma membrane|membrane fraction|mitochondrion protein binding central_nervous_system(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATCAGCTCCTGTTGGAGTTCA 0.393 ZNF107 51427 broad.mit.edu 37 7 64166846 64166846 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:64166846C>T uc003ttd.2 + 7 950 c.164C>T c.(163-165)ACG>ATG p.T55M ZNF107_uc003tte.2_Missense_Mutation_p.T55M NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 55 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) GATGAGTGTACGGGGCACAAA 0.343 MLXIPL 51085 broad.mit.edu 37 7 73010239 73010239 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:73010239G>A uc003tyn.1 - 14 2167 c.2119C>T c.(2119-2121)CGT>TGT p.R707C MLXIPL_uc003tyj.1_Missense_Mutation_p.R86C|MLXIPL_uc003tyk.1_Missense_Mutation_p.R686C|MLXIPL_uc003tyl.1_Missense_Mutation_p.R705C|MLXIPL_uc003tym.1_Missense_Mutation_p.R688C|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R613C NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 707 Leucine-zipper. anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) AAGCCCGCACGCTCCTGCTGT 0.622 HIP1 3092 broad.mit.edu 37 7 75176318 75176318 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:75176318G>A uc003uds.1 - 25 2519 c.2478C>T c.(2476-2478)TGC>TGT p.C826C HIP1_uc011kfz.1_Intron NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 826 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 GGCTGGTACAGCAACCAAGGA 0.532 T PDGFRB CMML STYXL1 51657 broad.mit.edu 37 7 75633122 75633122 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:75633122C>T uc003uej.3 - 7 824 c.651G>A c.(649-651)CCG>CCA p.P217P STYXL1_uc003uef.2_Silent_p.P23P|STYXL1_uc011kgf.1_Silent_p.P79P|STYXL1_uc011kgg.1_Silent_p.P69P|STYXL1_uc003ueh.2_Silent_p.P79P|STYXL1_uc003uek.3_Silent_p.P121P|STYXL1_uc003uel.2_Silent_p.P217P|STYXL1_uc003uem.2_Silent_p.P217P|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Silent_p.P217P|STYXL1_uc003uen.1_Silent_p.P217P NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 217 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 TCTGGGCTTCCGGGGAATCTT 0.542 CACNA2D1 781 broad.mit.edu 37 7 81598254 81598254 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:81598254C>G uc003uhr.1 - 29 2600 c.2344G>C c.(2344-2346)GTA>CTA p.V782L CACNA2D1_uc011kgy.1_Intron NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 794 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GCTTTGCTTACCATAATGCCC 0.274 CACNA2D1 781 broad.mit.edu 37 7 81964453 81964453 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:81964453C>T uc003uhr.1 - 3 548 c.292G>A c.(292-294)GTG>ATG p.V98M NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 98 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AAACTCACCACCAGGGCTTTA 0.368 PCLO 27445 broad.mit.edu 37 7 82785291 82785291 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:82785291C>A uc003uhx.2 - 2 955 c.666G>T c.(664-666)CAG>CAT p.Q222H PCLO_uc003uhv.2_Missense_Mutation_p.Q222H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 222 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAGGTCCTTGCTGCTTAGGAA 0.448 SEMA3E 9723 broad.mit.edu 37 7 83119491 83119491 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:83119491A>G uc003uhy.1 - 2 681 c.215T>C c.(214-216)GTG>GCG p.V72A NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 72 Sema. axon guidance extracellular space|membrane receptor activity p.V72L(1) ovary(3) 3 Medulloblastoma(109;0.109) CCTGCCTCCCACGAAGAGCCT 0.408 GRM3 2913 broad.mit.edu 37 7 86468787 86468787 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:86468787G>A uc003uid.2 + 4 3056 c.1957G>A c.(1957-1959)GCT>ACT p.A653T GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.A525T|GRM3_uc010leh.2_Missense_Mutation_p.A245T NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 653 Helical; Name=3; (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GAGTTCCTTCGCTATCTGTTA 0.537 ABCB4 5244 broad.mit.edu 37 7 87092221 87092221 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:87092221G>A uc003uiv.1 - 4 215 c.139C>T c.(139-141)CGA>TGA p.R47* ABCB4_uc003uiw.1_Nonsense_Mutation_p.R47*|ABCB4_uc003uix.1_Nonsense_Mutation_p.R47*|ABCB4_uc003uiy.2_Nonsense_Mutation_p.R47* NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 47 Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TCGGAGTATCGAAACTAAAAA 0.358 ADAM22 53616 broad.mit.edu 37 7 87762257 87762257 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:87762257C>T uc003ujn.2 + 12 1147 c.1068C>T c.(1066-1068)GGC>GGT p.G356G ADAM22_uc003ujk.1_Silent_p.G356G|ADAM22_uc003ujl.1_Silent_p.G356G|ADAM22_uc003ujm.2_Silent_p.G356G|ADAM22_uc003ujo.2_Silent_p.G356G|ADAM22_uc003ujp.1_Silent_p.G408G NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 356 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AAGGAGGAGGCGTGAATGAAG 0.403 MGC26647 219557 broad.mit.edu 37 7 88423902 88423902 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:88423902T>G uc003ujv.2 - 2 537 c.355A>C c.(355-357)AAA>CAA p.K119Q ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 119 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) GTTTCATCTTTGACATGGCCA 0.358 ZNF804B 219578 broad.mit.edu 37 7 88965252 88965252 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:88965252G>A uc011khi.1 + 4 3494 c.2956G>A c.(2956-2958)GCA>ACA p.A986T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 986 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) AATACAGTATGCAAGTGAGAG 0.393 HNSCC(36;0.09) SAMD9 54809 broad.mit.edu 37 7 92732152 92732152 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:92732152C>A uc003umf.2 - 3 3515 c.3259G>T c.(3259-3261)GCG>TCG p.A1087S SAMD9_uc003umg.2_Missense_Mutation_p.A1087S NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1087 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTTGCCAACGCTTGGCAAATG 0.358 CASD1 64921 broad.mit.edu 37 7 94167072 94167072 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:94167072A>G uc003uni.3 + 9 1359 c.1132A>G c.(1132-1134)ATG>GTG p.M378V CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.3_Missense_Mutation_p.M378V NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 378 Helical; (Potential). integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TGGCCTGATTATGGCATATTT 0.313 BAIAP2L1 55971 broad.mit.edu 37 7 97937118 97937118 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:97937118G>T uc003upj.2 - 10 1309 c.1046C>A c.(1045-1047)CCG>CAG p.P349Q uc003upk.1_5'Flank NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 349 SH3. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) CGCAGTGTGCGGGAAGATGGT 0.522 TRRAP 8295 broad.mit.edu 37 7 98573796 98573796 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:98573796G>A uc003upp.2 + 53 8052 c.7843G>A c.(7843-7845)GTT>ATT p.V2615I TRRAP_uc011kis.1_Missense_Mutation_p.V2597I|TRRAP_uc003upr.2_Missense_Mutation_p.V2314I NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2615 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAGCGCTTTCGTTCAGCTGTG 0.572 AP4M1 9179 broad.mit.edu 37 7 99700543 99700543 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:99700543G>A uc003utb.3 + 4 519 c.311G>A c.(310-312)CGC>CAC p.R104H MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.R104H|AP4M1_uc010lgl.1_Missense_Mutation_p.R104H|AP4M1_uc003utc.3_Missense_Mutation_p.R111H|AP4M1_uc010lgm.2_Intron|AP4M1_uc003utd.2_Missense_Mutation_p.R104H|AP4M1_uc011kjh.1_Missense_Mutation_p.R56H|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_5'UTR NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 104 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCATCTCCCGCAATGTGGCT 0.547 AGFG2 3268 broad.mit.edu 37 7 100160278 100160278 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:100160278G>A uc003uvf.2 + 8 1196 c.1060G>A c.(1060-1062)GGC>AGC p.G354S AGFG2_uc010lgy.2_Silent_p.A215A NM_006076 NP_006067 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 354 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1) 1 CGGCGGCGGCGGCAGCAGCAC 0.657 PCOLCE 5118 broad.mit.edu 37 7 100204175 100204175 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:100204175C>T uc003uvo.2 + 6 1060 c.862C>T c.(862-864)CGG>TGG p.R288W uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 288 Cleavage.|Cleavage. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CGGCCCCAAACGGGGAACTGA 0.602 SLC12A9 56996 broad.mit.edu 37 7 100459447 100459447 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:100459447G>A uc003uwp.2 + 12 1767 c.1625G>A c.(1624-1626)CGG>CAG p.R542Q SLC12A9_uc003uwq.2_Missense_Mutation_p.R453Q|SLC12A9_uc011kki.1_Missense_Mutation_p.R73Q|SLC12A9_uc003uwr.2_Missense_Mutation_p.R278Q|SLC12A9_uc003uws.2_Missense_Mutation_p.R73Q|SLC12A9_uc003uwt.2_Missense_Mutation_p.R278Q|SLC12A9_uc003uwv.2_Missense_Mutation_p.R73Q NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 542 Extracellular (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) GGGAACCCCCGGGGCGCCCTG 0.657 MUC17 140453 broad.mit.edu 37 7 100685976 100685976 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:100685976T>A uc003uxp.1 + 3 11332 c.11279T>A c.(11278-11280)GTC>GAC p.V3760D MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3760 Extracellular (Potential).|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACTATTCTTGTCAGTACCACA 0.478 RABL5 64792 broad.mit.edu 37 7 100958511 100958511 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:100958511A>G uc003uyl.2 - 5 565 c.462T>C c.(460-462)CCT>CCC p.P154P RABL5_uc011kkk.1_Silent_p.P77P|RABL5_uc011kkl.1_Silent_p.P77P|RABL5_uc003uym.2_Silent_p.P124P|RABL5_uc010lhw.2_RNA NM_022777 NP_073614 Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 isoform 154 GTP binding 0 Lung NSC(181;0.215) GGATCTCCTCAGGGTCATCTT 0.438 OREG0018221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ORC5L 5001 broad.mit.edu 37 7 103835622 103835622 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:103835622C>T uc003vcb.2 - 5 633 c.522G>A c.(520-522)CCG>CCA p.P174P ORC5L_uc011klp.1_Silent_p.P42P|ORC5L_uc003vcc.2_Silent_p.P174P|ORC5L_uc003vcd.2_Silent_p.P174P NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 174 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 ATAAGACAAACGGCTCAAAGC 0.333 DOCK4 9732 broad.mit.edu 37 7 111517184 111517184 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:111517184T>C uc003vfx.2 - 17 1915 c.1646A>G c.(1645-1647)AAG>AGG p.K549R DOCK4_uc003vfw.2_5'UTR|DOCK4_uc003vfy.2_Missense_Mutation_p.K549R|DOCK4_uc003vga.1_Missense_Mutation_p.K154R NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 549 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) GAAAATGCCCTTGGAAAAGGG 0.373 MDFIC 29969 broad.mit.edu 37 7 114563029 114563029 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:114563029C>T uc003vhf.2 + 2 531 c.268C>T c.(268-270)CGC>TGC p.R90C MDFIC_uc003vhg.2_RNA NM_199072 NP_951038 Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing protein Error:Variant_position_missing_in_Q9P1T7_after_alignment activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus cyclin binding|Tat protein binding ovary(1) 1 TTCCTCCGTGCGCCCTGCCGG 0.637 KCND2 3751 broad.mit.edu 37 7 119915437 119915437 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:119915437G>T uc003vjj.1 + 1 1716 c.751G>T c.(751-753)GCG>TCG p.A251S NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 251 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CCTGGCTGCAGCGCCTAGTCG 0.527 PTPRZ1 5803 broad.mit.edu 37 7 121637988 121637988 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:121637988G>T uc003vjy.2 + 10 1563 c.1168G>T c.(1168-1170)GCC>TCC p.A390S PTPRZ1_uc003vjz.2_Missense_Mutation_p.A390S NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 390 Extracellular (Potential).|Fibronectin type-III. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TCAGATAGTAGCCATATGCAC 0.348 SLC13A1 6561 broad.mit.edu 37 7 122809297 122809297 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:122809297G>A uc003vkm.2 - 4 483 c.458C>T c.(457-459)GCT>GTT p.A153V SLC13A1_uc010lks.2_5'UTR NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 153 integral to membrane|plasma membrane sodium:sulfate symporter activity p.A153V(1) ovary(2) 2 Succinic acid(DB00139) CTGCACTACAGCCTCCGCAAT 0.527 GRM8 2918 broad.mit.edu 37 7 126173175 126173175 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:126173175C>T uc003vlr.2 - 8 2572 c.2261G>A c.(2260-2262)GGA>GAA p.G754E GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G754E|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 754 Helical; Name=5; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GATACTGTATCCAAGTGAACA 0.438 HNSCC(24;0.065) IRF5 3663 broad.mit.edu 37 7 128582176 128582176 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:128582176G>A uc003vog.2 + 2 162 c.41G>A c.(40-42)CGC>CAC p.R14H IRF5_uc010llr.1_Missense_Mutation_p.R14H|IRF5_uc011kot.1_Missense_Mutation_p.R14H|IRF5_uc011kou.1_Missense_Mutation_p.R14H|IRF5_uc010lls.1_Missense_Mutation_p.R14H|IRF5_uc003voh.2_Missense_Mutation_p.R14H|IRF5_uc010llt.2_Missense_Mutation_p.R14H|IRF5_uc003voi.2_Missense_Mutation_p.R14H|IRF5_uc010llu.1_Missense_Mutation_p.R14H|IRF5_uc003vok.2_Missense_Mutation_p.R14H|IRF5_uc003voj.3_Missense_Mutation_p.R14H|IRF5_uc010llv.1_Missense_Mutation_p.R14H|IRF5_uc010llw.1_Missense_Mutation_p.R14H NM_002200 NP_002191 Q13568 IRF5_HUMAN interferon regulatory factor 5 isoform a 14 IRF tryptophan pentad repeat. interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CCACCCCGCCGCGTGCGGCTG 0.627 SMO 6608 broad.mit.edu 37 7 128849174 128849174 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:128849174A>G uc003vor.2 + 8 1682 c.1402A>G c.(1402-1404)AGC>GGC p.S468G SMO_uc003vos.2_Missense_Mutation_p.S143G NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 468 Helical; Name=6; (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 CATTACCTTCAGCTGCCACTT 0.592 Mis skin basal cell UBE2H 7328 broad.mit.edu 37 7 129479104 129479104 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:129479104C>T uc003vpf.1 - 6 764 c.370G>A c.(370-372)GGT>AGT p.G124S UBE2H_uc003vpg.1_Missense_Mutation_p.G93S NM_003344 NP_003335 P62256 UBE2H_HUMAN ubiquitin-conjugating enzyme E2H isoform 1 124 protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin-protein ligase activity skin(1) 1 Melanoma(18;0.0435) GCAGCGTCACCATTGAGAGGA 0.413 TRIM24 8805 broad.mit.edu 37 7 138189060 138189060 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:138189060C>T uc003vuc.2 + 2 605 c.390C>T c.(388-390)TGC>TGT p.C130C TRIM24_uc003vub.2_Silent_p.C130C NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 130 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 GCCCAGTTTGCAGCCAAGAAT 0.368 UBN2 254048 broad.mit.edu 37 7 138944044 138944044 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:138944044T>C uc011kqr.1 + 5 833 c.833T>C c.(832-834)ATG>ACG p.M278T UBN2_uc003vuv.2_Missense_Mutation_p.M1T NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 278 Lys-rich. ovary(1)|skin(1) 2 GATATTGAGATGAAGAAGCGG 0.368 TBXAS1 6916 broad.mit.edu 37 7 139706977 139706977 + Silent SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:139706977T>G uc011kqv.1 + 11 1526 c.1362T>G c.(1360-1362)GCT>GCG p.A454A TBXAS1_uc003vvh.2_Silent_p.A408A|TBXAS1_uc010lne.2_Silent_p.A340A|TBXAS1_uc011kqu.1_Silent_p.A359A|TBXAS1_uc003vvi.2_Silent_p.A408A|TBXAS1_uc003vvj.2_Silent_p.A408A|TBXAS1_uc011kqw.1_Silent_p.A388A NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 407 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) ACCCGCCAGCTTTCAGGTGTG 0.637 JHDM1D 80853 broad.mit.edu 37 7 139791763 139791763 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:139791763A>G uc003vvm.2 - 19 2576 c.2572T>C c.(2572-2574)TAT>CAT p.Y858H JHDM1D_uc010lng.2_RNA NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 858 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) TTCTGCATATACTTTCCATTC 0.473 TRPV6 55503 broad.mit.edu 37 7 142571315 142571315 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:142571315G>T uc003wbx.1 - 13 1890 c.1674C>A c.(1672-1674)ACC>ACA p.T558T TRPV6_uc003wbw.1_Silent_p.T344T|TRPV6_uc010lou.1_Silent_p.T429T NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 558 Helical; (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) AGGCAGCATAGGTGATGCTGT 0.567 KEL 3792 broad.mit.edu 37 7 142643391 142643391 + Missense_Mutation SNP C C T rs61729041 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:142643391C>T uc003wcb.2 - 11 1427 c.1217G>A c.(1216-1218)CGA>CAA p.R406Q NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 406 Extracellular (Potential). R -> Q (in KEL26 antigen). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) CTTCATCCATCGTGGGCGGGC 0.562 EPHA1 2041 broad.mit.edu 37 7 143095949 143095949 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:143095949G>A uc003wcz.2 - 6 1168 c.1081C>T c.(1081-1083)CGC>TGC p.R361C NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 361 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) ACATCCTGGCGTCCCCCCGTA 0.662 CNTNAP2 26047 broad.mit.edu 37 7 146818164 146818164 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:146818164G>A uc003weu.1 + 6 1364 c.848G>A c.(847-849)CGC>CAC p.R283H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 283 Laminin G-like 1.|Extracellular (Potential). R -> C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTCATTGAGCGCCAGGGGCGG 0.532 HNSCC(39;0.1) EZH2 2146 broad.mit.edu 37 7 148507454 148507454 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:148507454A>G uc003wfd.1 - 17 2151 c.1985T>C c.(1984-1986)ATG>ACG p.M662T EZH2_uc011kug.1_Missense_Mutation_p.M611T|EZH2_uc003wfb.1_Missense_Mutation_p.M667T|EZH2_uc003wfc.1_Missense_Mutation_p.M623T|EZH2_uc011kuh.1_Missense_Mutation_p.M653T NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 662 SET. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding p.V662fs*13(1) haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) AAAGCTGCACATGTATTTATC 0.418 Mis DLBCL ZNF746 155061 broad.mit.edu 37 7 149174108 149174108 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:149174108G>A uc003wfw.2 - 6 1014 c.743C>T c.(742-744)CCG>CTG p.P248L ZNF746_uc010lpi.2_Missense_Mutation_p.P248L NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 248 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGAGGTGGGCGGGATGGTGGT 0.617 ZNF746 155061 broad.mit.edu 37 7 149191572 149191572 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:149191572G>A uc003wfw.2 - 2 318 c.47C>T c.(46-48)GCC>GTC p.A16V ZNF746_uc010lpi.2_Missense_Mutation_p.A16V NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 16 Potential. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CTGAATCGTGGCTGCCATCGT 0.537 ZNF862 643641 broad.mit.edu 37 7 149547315 149547315 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:149547315C>T uc010lpn.2 + 5 1197 c.1005C>T c.(1003-1005)TTC>TTT p.F335F ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 335 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 CGGTGGTGTTCGAGGATGTGG 0.592 ZNF862 643641 broad.mit.edu 37 7 149557773 149557773 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:149557773G>A uc010lpn.2 + 7 1716 c.1524G>A c.(1522-1524)ACG>ACA p.T508T ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 508 TTF-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 GAGGTTACACGGGGCCTTTTA 0.453 LRRC61 65999 broad.mit.edu 37 7 150034580 150034580 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:150034580C>T uc003wgv.2 + 3 1304 c.630C>T c.(628-630)AGC>AGT p.S210S LRRC61_uc003wgx.2_Silent_p.S210S|LRRC61_uc003wgw.2_Silent_p.S210S|LRRC61_uc003wgz.3_Silent_p.S210S NM_023942 NP_076431 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 210 0 OV - Ovarian serous cystadenocarcinoma(82;0.011) CCTGGCCCAGCCGGAGCAGCT 0.701 KCNH2 3757 broad.mit.edu 37 7 150656686 150656686 + Missense_Mutation SNP C C G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:150656686C>G uc003wic.2 - 3 459 c.446G>C c.(445-447)GGC>GCC p.G149A KCNH2_uc011kux.1_Missense_Mutation_p.G53A|KCNH2_uc003wie.2_Missense_Mutation_p.G149A NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 149 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGTGGGGGGGCCCCGGTGGTT 0.582 MLL3 58508 broad.mit.edu 37 7 151860314 151860314 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:151860314G>A uc003wla.2 - 43 10567 c.10348C>T c.(10348-10350)CAG>TAG p.Q3450* MLL3_uc003wkz.2_Nonsense_Mutation_p.Q2511*|MLL3_uc003wky.2_Nonsense_Mutation_p.Q959* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3450 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AAGGGAATCTGGGACACAGAT 0.483 N medulloblastoma ARHGEF10 9639 broad.mit.edu 37 8 1873491 1873491 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:1873491G>A uc003wpr.2 + 22 2709 c.2531G>A c.(2530-2532)GGG>GAG p.G844E ARHGEF10_uc003wpq.1_Missense_Mutation_p.G868E|ARHGEF10_uc003wps.2_Missense_Mutation_p.G806E|ARHGEF10_uc003wpv.2_Missense_Mutation_p.G576E|ARHGEF10_uc010lre.2_Missense_Mutation_p.G524E NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 869 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GAAGACGATGGGAATCACATT 0.507 CSMD1 64478 broad.mit.edu 37 8 3165998 3165998 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:3165998G>A uc011kwk.1 - 24 4052 c.3662C>T c.(3661-3663)CCG>CTG p.P1221L CSMD1_uc011kwj.1_Missense_Mutation_p.P613L|CSMD1_uc003wqe.2_Missense_Mutation_p.P377L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1221 Extracellular (Potential).|Sushi 7. 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) AGGGATGCCCGGATCCTCACA 0.483 CSMD1 64478 broad.mit.edu 37 8 3855550 3855550 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:3855550G>A uc011kwk.1 - 5 1083 c.693C>T c.(691-693)AAC>AAT p.N231N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 231 Extracellular (Potential).|CUB 2. 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) TGCAGTCCGCGTTGTTCTCGT 0.567 XKR5 389610 broad.mit.edu 37 8 6690370 6690370 + Nonsense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:6690370C>T uc003wqp.2 - 2 133 c.111G>A c.(109-111)TGG>TGA p.W37* XKR5_uc003wqq.2_5'UTR|XKR5_uc003wqr.1_RNA NM_207411 NP_997294 Q6UX68 XKR5_HUMAN XK-related protein 5a 37 Helical; (Potential). integral to membrane 0 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) CAAGGGCCAGCCACCCCCACA 0.602 PINX1 54984 broad.mit.edu 37 8 10623273 10623273 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:10623273G>A uc003wth.2 - 7 658 c.625C>T c.(625-627)CGT>TGT p.R209C SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR NM_017884 NP_060354 Q96BK5 PINX1_HUMAN PIN2-interacting protein 1 209 mitotic metaphase plate congression|negative regulation of cell proliferation chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle protein binding|telomerase inhibitor activity|telomeric RNA binding lung(1)|kidney(1)|skin(1) 3 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) CCCCTTTTACGTTCCACCTGC 0.522 DLC1 10395 broad.mit.edu 37 8 13357188 13357188 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:13357188T>C uc003wwm.2 - 2 837 c.393A>G c.(391-393)CAA>CAG p.Q131Q DLC1_uc003wwn.2_Silent_p.Q131Q|DLC1_uc011kxy.1_Silent_p.Q131Q NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 131 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TTTTCTGCCCTTGGGTATTTA 0.423 MSR1 4481 broad.mit.edu 37 8 16021619 16021619 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:16021619C>A uc003wwz.2 - 5 970 c.772G>T c.(772-774)GAT>TAT p.D258Y MSR1_uc010lsu.2_Missense_Mutation_p.D276Y|MSR1_uc003wxa.2_Missense_Mutation_p.D258Y|MSR1_uc003wxb.2_Missense_Mutation_p.D258Y|MSR1_uc011kxz.1_Missense_Mutation_p.D32Y NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 258 Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TGTTCCCAATCTTTCAGTCTG 0.303 ZDHHC2 51201 broad.mit.edu 37 8 17055134 17055134 + Silent SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:17055134C>A uc003wxe.2 + 5 814 c.417C>A c.(415-417)CGC>CGA p.R139R NM_016353 NP_057437 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 139 DHHC-type. integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) AACCAGATCGCTGCCATCACT 0.378 PCM1 5108 broad.mit.edu 37 8 17867107 17867107 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:17867107C>T uc003wyi.3 + 31 5436 c.5014C>T c.(5014-5016)CTT>TTT p.L1672F PCM1_uc011kyh.1_Missense_Mutation_p.L1664F|PCM1_uc003wyj.3_Missense_Mutation_p.L1618F|PCM1_uc011kyi.1_Missense_Mutation_p.L471F|PCM1_uc011kyj.1_Missense_Mutation_p.L428F|PCM1_uc003wyk.3_Missense_Mutation_p.L354F|PCM1_uc011kyk.1_Missense_Mutation_p.L288F NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 1672 Interaction with HAP1. centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) TGGAGAAGATCTTCTTGTAGA 0.308 T RET|JAK2 papillary thyroid|CML|MPD SH2D4A 63898 broad.mit.edu 37 8 19250969 19250969 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:19250969G>T uc003wzb.2 + 9 1525 c.1189G>T c.(1189-1191)GAT>TAT p.D397Y SH2D4A_uc011kym.1_Missense_Mutation_p.D352Y|SH2D4A_uc003wzc.2_Missense_Mutation_p.D397Y NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 397 SH2. cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) TTTCCTCATCGATGCCTCTGC 0.527 LZTS1 11178 broad.mit.edu 37 8 20107710 20107710 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:20107710G>A uc003wzr.2 - 3 1425 c.1314C>T c.(1312-1314)GGC>GGT p.G438G LZTS1_uc010ltg.1_Silent_p.G438G NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 438 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGCGCAGGGCGCCCTCCAGGT 0.647 FAM160B2 64760 broad.mit.edu 37 8 21959298 21959298 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:21959298G>A uc011kyx.1 + 14 1838 c.1787G>A c.(1786-1788)CGA>CAA p.R596Q FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 596 0 GAGCCCGAGCGACCTTTCTTC 0.632 LGI3 203190 broad.mit.edu 37 8 22005798 22005798 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:22005798G>A uc003xav.2 - 8 1811 c.1522C>T c.(1522-1524)CTG>TTG p.L508L LGI3_uc010ltu.2_Silent_p.L484L NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 508 EAR 7. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) TGCACAGCCAGCTCCTGGAAC 0.607 C8orf58 541565 broad.mit.edu 37 8 22459291 22459291 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:22459291C>A uc003xce.2 + 3 695 c.583C>A c.(583-585)CTG>ATG p.L195M C8orf58_uc011kzl.1_Missense_Mutation_p.L195M|C8orf58_uc003xcf.2_Missense_Mutation_p.L195M|KIAA1967_uc003xch.2_5'Flank NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN hypothetical protein LOC541565 195 skin(1) 1 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TCTGGAACACCTGTGCCTGGT 0.652 KIAA1967 57805 broad.mit.edu 37 8 22464797 22464797 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:22464797T>C uc003xch.2 + 6 583 c.446T>C c.(445-447)ATC>ACC p.I149T KIAA1967_uc003xci.2_Missense_Mutation_p.I149T|KIAA1967_uc003xcj.1_5'UTR NM_199205 NP_954675 Q8N163 K1967_HUMAN p30 DBC protein 149 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CCTCAGTTGATCTTCCAGCCT 0.557 KIAA1967 57805 broad.mit.edu 37 8 22476226 22476226 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:22476226G>A uc003xch.2 + 18 2454 c.2317G>A c.(2317-2319)GAG>AAG p.E773K KIAA1967_uc003xci.2_Missense_Mutation_p.E773K|KIAA1967_uc003xcj.1_Missense_Mutation_p.E442K NM_199205 NP_954675 Q8N163 K1967_HUMAN p30 DBC protein 773 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TGGCCTTCCCGAGGAGGTGCT 0.627 NEFL 4747 broad.mit.edu 37 8 24813259 24813259 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:24813259C>T uc003xee.2 - 1 873 c.771G>A c.(769-771)GCG>GCA p.A257A NM_006158 NP_006149 P07196 NFL_HUMAN neurofilament, light polypeptide 68kDa 257 Rod.|Coil 2A. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TGTCCTTGAGCGCGGCGGAAA 0.607 KCTD9 54793 broad.mit.edu 37 8 25290099 25290099 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:25290099A>G uc003xeo.2 - 11 1132 c.974T>C c.(973-975)CTG>CCG p.L325P PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 325 Pentapeptide repeat 2. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) AGCCACTCTCAGGTTAATTCC 0.393 DPYSL2 1808 broad.mit.edu 37 8 26510813 26510813 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:26510813G>A uc003xfb.1 + 13 1877 c.1527G>A c.(1525-1527)ACG>ACA p.T509T DPYSL2_uc003xfa.2_Silent_p.T614T|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.T473T NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 509 T->A: Greatly diminishes binding to 3F4 antibody. axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) TGTCTGTGACGCCCAAGACAG 0.602 ZNF395 55893 broad.mit.edu 37 8 28206306 28206306 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:28206306C>T uc003xgq.2 - 10 1560 c.1472G>A c.(1471-1473)GGC>GAC p.G491D ZNF395_uc003xgt.2_Missense_Mutation_p.G491D|ZNF395_uc003xgr.2_Missense_Mutation_p.G491D|ZNF395_uc003xgs.2_Missense_Mutation_p.G491D NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN zinc finger protein 395 491 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GTGCTCGATGCCATACACCTT 0.612 UNC5D 137970 broad.mit.edu 37 8 35406866 35406866 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:35406866C>T uc003xjr.1 + 2 488 c.160C>T c.(160-162)CCT>TCT p.P54S UNC5D_uc003xjs.1_Missense_Mutation_p.P49S NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 54 Extracellular (Potential).|Ig-like. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGGGACACTGCCTCATTTCAT 0.463 FGFR1 2260 broad.mit.edu 37 8 38275768 38275768 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:38275768G>A uc003xlp.2 - 11 2350 c.1408C>T c.(1408-1410)CGC>TGC p.R470C FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R468C|FGFR1_uc011lbp.1_Missense_Mutation_p.R381C|FGFR1_uc011lbq.1_Missense_Mutation_p.R379C|FGFR1_uc010lwk.2_Missense_Mutation_p.R460C NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 470 Cytoplasmic (Potential). axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) AGCTCCCAGCGAGGGTCTTCG 0.522 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome FGFR1 2260 broad.mit.edu 37 8 38279341 38279341 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:38279341T>C uc003xlp.2 - 8 1997 c.1055A>G c.(1054-1056)CAC>CGC p.H352R FGFR1_uc011lbo.1_Missense_Mutation_p.H350R|FGFR1_uc011lbp.1_Missense_Mutation_p.H263R|FGFR1_uc011lbq.1_Missense_Mutation_p.H261R|FGFR1_uc010lwk.2_Missense_Mutation_p.H344R|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.H192R|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.H383R|FGFR1_uc011lbv.1_Missense_Mutation_p.H350R|FGFR1_uc011lbw.1_Missense_Mutation_p.H263R|FGFR1_uc011lbx.1_Missense_Mutation_p.H263R NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 352 Ig-like C2-type 3.|Extracellular (Potential). axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CCATGCAGAGTGATGGGAGAG 0.542 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome TACC1 6867 broad.mit.edu 37 8 38705511 38705511 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:38705511G>T uc010lwp.2 + 13 2767 c.2388G>T c.(2386-2388)GAG>GAT p.E796D TACC1_uc003xma.2_Missense_Mutation_p.E234D|TACC1_uc003xlz.2_Missense_Mutation_p.E601D|TACC1_uc003xmc.3_Missense_Mutation_p.E600D|TACC1_uc011lbz.1_Missense_Mutation_p.E783D|TACC1_uc003xmb.3_Missense_Mutation_p.E722D|TACC1_uc003xmf.3_Missense_Mutation_p.E386D|TACC1_uc011lca.1_Missense_Mutation_p.E779D|TACC1_uc011lcb.1_Missense_Mutation_p.E572D|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.E613D|TACC1_uc010lwq.2_Missense_Mutation_p.E612D NM_006283 NP_006274 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing 796 |Interaction with CH-TOG. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding ovary(1) 1 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) TCTGTGATGAGCTGATTGCAA 0.403 IDO2 169355 broad.mit.edu 37 8 39845406 39845406 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:39845406A>G uc010lwy.1 + 7 747 c.505A>G c.(505-507)ATC>GTC p.I169V IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN indoleamine-pyrrole 2,3 dioxygenase-like 1 156 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity ovary(2) 2 GGAGACCATCATCTCATTTCC 0.498 ANK1 286 broad.mit.edu 37 8 41526075 41526075 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:41526075C>T uc003xok.2 - 39 5188 c.5104G>A c.(5104-5106)GAC>AAC p.D1702N NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.D856N|ANK1_uc003xoi.2_Missense_Mutation_p.D1702N|ANK1_uc003xoj.2_Missense_Mutation_p.D1702N|ANK1_uc003xol.2_Missense_Mutation_p.D1540N|ANK1_uc003xom.2_Missense_Mutation_p.D1743N NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1702 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCATCCCAGTCCTGCAGTCTG 0.562 ANK1 286 broad.mit.edu 37 8 41753904 41753904 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:41753904C>T uc003xom.2 - 1 377 c.95G>A c.(94-96)CGG>CAG p.R32Q NM_001142446 NP_001135918 P16157 ANK1_HUMAN ankyrin 1 isoform 9 Error:Variant_position_missing_in_P16157_after_alignment axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCGGTTTCTCCGCTTCCTGTT 0.617 CHRNB3 1142 broad.mit.edu 37 8 42587519 42587519 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:42587519T>C uc003xpi.1 + 5 1197 c.1069T>C c.(1069-1071)TCA>CCA p.S357P NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 357 Cytoplasmic (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGATCGCTACTCATCCCCAGA 0.443 FNTA 2339 broad.mit.edu 37 8 42940306 42940306 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:42940306T>C uc003xps.2 + 9 1069 c.1021T>C c.(1021-1023)TGT>CGT p.C341R FNTA_uc003xpt.2_Missense_Mutation_p.C250R|FNTA_uc003xpu.2_Missense_Mutation_p.C274R|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 341 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TTTTCAGTTATGTGAAATCCT 0.313 PRKDC 5591 broad.mit.edu 37 8 48845642 48845642 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:48845642C>T uc003xqi.2 - 16 1771 c.1714G>A c.(1714-1716)GTT>ATT p.V572I PRKDC_uc003xqj.2_Missense_Mutation_p.V572I|PRKDC_uc011ldh.1_Missense_Mutation_p.V572I NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 572 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATCTTCAAAACGGATTTTACA 0.294 NHEJ PRKDC 5591 broad.mit.edu 37 8 48852128 48852128 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:48852128A>G uc003xqi.2 - 11 1153 c.1096T>C c.(1096-1098)TAT>CAT p.Y366H PRKDC_uc003xqj.2_Missense_Mutation_p.Y366H|PRKDC_uc011ldh.1_Missense_Mutation_p.Y366H NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 366 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAAAGTCCATATCCACGGATA 0.333 NHEJ RB1CC1 9821 broad.mit.edu 37 8 53540632 53540632 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:53540632T>C uc003xre.3 - 22 5154 c.4596A>G c.(4594-4596)TCA>TCG p.S1532S RB1CC1_uc003xrf.3_Silent_p.S1532S NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 1532 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) GTAGAGACTCTGAATGTAGAA 0.383 RB1CC1 9821 broad.mit.edu 37 8 53573539 53573539 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:53573539T>G uc003xre.3 - 11 2132 c.1574A>C c.(1573-1575)AAG>ACG p.K525T RB1CC1_uc003xrf.3_Missense_Mutation_p.K525T NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 525 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ATATAATCTCTTTCCATCTTT 0.284 NPBWR1 2831 broad.mit.edu 37 8 53853024 53853024 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:53853024G>A uc011ldu.1 + 1 557 c.557G>A c.(556-558)CGC>CAC p.R186H NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 186 Extracellular (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) CAGGGCCGGCGCCAGTGCGTG 0.706 CHD7 55636 broad.mit.edu 37 8 61654300 61654300 + Silent SNP G G A rs115293759 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:61654300G>A uc003xue.2 + 2 786 c.309G>A c.(307-309)TCG>TCA p.S103S NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 103 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTCCGCACTCGCAGTATCACA 0.542 CHD7 55636 broad.mit.edu 37 8 61654770 61654770 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:61654770C>T uc003xue.2 + 2 1256 c.779C>T c.(778-780)CCC>CTC p.P260L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 260 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CATCACCACCCCTCTACTGCT 0.582 CHD7 55636 broad.mit.edu 37 8 61764728 61764728 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:61764728G>A uc003xue.2 + 29 6293 c.5816G>A c.(5815-5817)CGG>CAG p.R1939Q NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1939 Poly-Arg. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAGACTGACCGGCGCAGACGG 0.522 C8orf45 157777 broad.mit.edu 37 8 67793093 67793093 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:67793093T>C uc003xwz.3 + 8 890 c.719T>C c.(718-720)GTG>GCG p.V240A C8orf45_uc003xwv.2_Missense_Mutation_p.V240A|C8orf45_uc011lev.1_Missense_Mutation_p.V240A|C8orf45_uc011lew.1_Missense_Mutation_p.V171A|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.V240A NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 240 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) GATGAATCAGTGAATAAAATG 0.279 COPS5 10987 broad.mit.edu 37 8 67963489 67963489 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:67963489C>T uc003xxe.2 - 6 1078 c.747G>A c.(745-747)ACG>ACA p.T249T COPS5_uc003xxd.2_Silent_p.T185T|COPS5_uc003xxf.2_Silent_p.T294T|COPS5_uc010lyu.1_RNA|COPS5_uc010lyv.1_Silent_p.T249T NM_006837 NP_006828 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 249 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity ovary(1)|skin(1) 2 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAGAACTCAACGTATTCACCC 0.323 SLCO5A1 81796 broad.mit.edu 37 8 70744651 70744651 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:70744651C>T uc003xyl.2 - 2 965 c.258G>A c.(256-258)CCG>CCA p.P86P SLCO5A1_uc010lzb.2_Silent_p.P86P|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.P86P|SLCO5A1_uc010lzc.2_Silent_p.P86P NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 86 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCGAAGTGGACGGGGCAGAGG 0.642 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMEM70 54968 broad.mit.edu 37 8 74893786 74893786 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:74893786A>G uc003yab.2 + 3 800 c.713A>G c.(712-714)TAT>TGT p.Y238C TMEM70_uc003yac.2_3'UTR NM_017866 NP_060336 Q9BUB7 TMM70_HUMAN transmembrane protein 70 isoform a 238 mitochondrial proton-transporting ATP synthase complex assembly integral to mitochondrial membrane|mitochondrial inner membrane ovary(1) 1 Breast(64;0.0311) Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564) CTAATGGGTTATGACAAAGAA 0.338 JPH1 56704 broad.mit.edu 37 8 75227418 75227418 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:75227418C>T uc003yae.2 - 2 857 c.817G>A c.(817-819)GTG>ATG p.V273M JPH1_uc003yaf.2_Missense_Mutation_p.V273M|JPH1_uc003yag.1_Missense_Mutation_p.V137M NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 273 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GTGGCGTCCACGTGGTCTTCC 0.567 ZFHX4 79776 broad.mit.edu 37 8 77776241 77776241 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:77776241C>T uc003yav.2 + 11 10543 c.10156C>T c.(10156-10158)CCT>TCT p.P3386S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3382 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) TTTCGGTCAGCCTTTGATTGA 0.438 HNSCC(33;0.089) CA3 761 broad.mit.edu 37 8 86358463 86358463 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:86358463G>A uc003ydj.2 + 6 683 c.600G>A c.(598-600)CCG>CCA p.P200P CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 200 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 TCACCACGCCGCCCTGCGAGG 0.597 RBM12B 389677 broad.mit.edu 37 8 94747516 94747516 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:94747516A>C uc003yfz.2 - 3 1316 c.1123T>G c.(1123-1125)TCA>GCA p.S375A NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 375 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AGTGACCCTGATCTCTTCTTT 0.368 CDH17 1015 broad.mit.edu 37 8 95174358 95174358 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:95174358C>T uc003ygh.2 - 11 1440 c.1315G>A c.(1315-1317)GTT>ATT p.V439I CDH17_uc011lgo.1_Missense_Mutation_p.V225I|CDH17_uc011lgp.1_Missense_Mutation_p.V439I NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 439 Extracellular (Potential).|Cadherin 4. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) ATATCAATAACGTTGATTTGC 0.303 GEM 2669 broad.mit.edu 37 8 95272654 95272654 + Silent SNP A A G rs151310883 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:95272654A>G uc003ygj.2 - 2 327 c.78T>C c.(76-78)GCT>GCC p.A26A GEM_uc003ygi.2_Silent_p.A26A NM_005261 NP_005252 P55040 GEM_HUMAN GTP-binding mitogen-induced T-cell protein 26 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding lung(1) 1 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GCCTGCCATCAGCTGGGATGC 0.607 VPS13B 157680 broad.mit.edu 37 8 100836166 100836166 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:100836166A>G uc003yiv.2 + 51 9476 c.9365A>G c.(9364-9366)AAA>AGA p.K3122R VPS13B_uc003yiw.2_Missense_Mutation_p.K3097R NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3122 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATATTTTATAAACCACAGCTA 0.328 SPAG1 6674 broad.mit.edu 37 8 101232551 101232551 + Missense_Mutation SNP G G A rs150325048 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:101232551G>A uc003yjh.1 + 13 1666 c.1580G>A c.(1579-1581)CGG>CAG p.R527Q SPAG1_uc003yji.1_Missense_Mutation_p.R527Q NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 527 TPR 6. single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) CTTCTGAGGCGGGCGATGGCC 0.398 GRHL2 79977 broad.mit.edu 37 8 102571012 102571012 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:102571012G>A uc010mbu.2 + 4 980 c.650G>A c.(649-651)AGC>AAC p.S217N GRHL2_uc011lhi.1_Missense_Mutation_p.S217N NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 217 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) AGCACATACAGCGAGAGCTTC 0.547 FZD6 8323 broad.mit.edu 37 8 104312361 104312361 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:104312361C>T uc003ylh.2 + 2 310 c.26C>T c.(25-27)ACG>ATG p.T9M FZD6_uc003yli.2_Missense_Mutation_p.T9M|FZD6_uc003ylj.2_Missense_Mutation_p.T9M|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_Translation_Start_Site|FZD6_uc011lhp.1_Translation_Start_Site NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 9 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) TTTTTGTTGACGTGTATTTTT 0.398 RIMS2 9699 broad.mit.edu 37 8 105105763 105105763 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:105105763A>G uc003yls.2 + 21 3027 c.2786A>G c.(2785-2787)GAT>GGT p.D929G RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.D1002G|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCGGACAGTGATGTAAGTGAT 0.438 HNSCC(12;0.0054) EIF3H 8667 broad.mit.edu 37 8 117671196 117671196 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:117671196G>A uc003yoa.2 - 3 339 c.313C>T c.(313-315)CGG>TGG p.R105W EIF3H_uc003yob.2_Missense_Mutation_p.R119W|EIF3H_uc011lhz.1_Missense_Mutation_p.R105W NM_003756 NP_003747 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, 105 MPN. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(3) 3 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) CGAAGGCTCCGCATCATTTCC 0.428 SAMD12 401474 broad.mit.edu 37 8 119391937 119391937 + Nonsense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:119391937G>A uc003yom.2 - 4 454 c.325C>T c.(325-327)CGA>TGA p.R109* SAMD12_uc010mda.1_Nonsense_Mutation_p.R109*|SAMD12_uc010mdb.1_RNA NM_207506 NP_997389 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 isoform 109 SAM. ovary(1) 1 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) AGCAGGGCTCGCCCTGCAGGG 0.473 ANXA13 312 broad.mit.edu 37 8 124714949 124714949 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:124714949A>G uc003yqu.2 - 3 192 c.119T>C c.(118-120)ATC>ACC p.I40T ANXA13_uc003yqt.2_Missense_Mutation_p.I81T NM_004306 NP_004297 P27216 ANX13_HUMAN annexin A13 isoform a 40 Annexin 1. cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) GCCCGATAAGATTTCAATGAT 0.453 EFR3A 23167 broad.mit.edu 37 8 132989340 132989340 + Splice_Site SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:132989340G>T uc003yte.2 + 12 1527 c.1326_splice c.e12+1 p.M442_splice NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTTGCTTATGGTAAGGCATTT 0.294 KCNQ3 3786 broad.mit.edu 37 8 133141583 133141583 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:133141583C>T uc003ytj.2 - 15 2770 c.2545G>A c.(2545-2547)GGC>AGC p.G849S KCNQ3_uc010mdt.2_Missense_Mutation_p.G837S|uc003yti.2_5'Flank NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 849 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGCATGGAGCCGCTGGGCGTG 0.582 TG 7038 broad.mit.edu 37 8 133919026 133919026 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:133919026A>G uc003ytw.2 + 17 3769 c.3728A>G c.(3727-3729)CAG>CGG p.Q1243R TG_uc010mdw.2_Missense_Mutation_p.Q2R NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1243 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCTGCCATGCAGCAGTGCCAA 0.627 TG 7038 broad.mit.edu 37 8 134144191 134144191 + Splice_Site SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:134144191G>T uc003ytw.2 + 46 8038 c.7997_splice c.e46+1 p.G2666_splice TG_uc010mdw.2_Splice_Site_p.G1425_splice|TG_uc011ljb.1_Splice_Site_p.G1035_splice|TG_uc011ljc.1_Splice_Site_p.G799_splice NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCAGATCAGGGTAATTTTGGA 0.488 WISP1 8840 broad.mit.edu 37 8 134232898 134232898 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:134232898T>C uc003yub.2 + 3 500 c.424T>C c.(424-426)TAC>CAC p.Y142H WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 142 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TAACTGCAAGTACAACTGCAC 0.672 WISP1 8840 broad.mit.edu 37 8 134233083 134233083 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:134233083C>T uc003yub.2 + 3 685 c.609C>T c.(607-609)TTC>TTT p.F203F WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 203 cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CAGGAGCCTTCGGTGGGTGTG 0.622 FAM135B 51059 broad.mit.edu 37 8 139190804 139190804 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:139190804G>T uc003yuy.2 - 10 1174 c.1003C>A c.(1003-1005)CTC>ATC p.L335I FAM135B_uc003yux.2_Missense_Mutation_p.L236I|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 335 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCCTGGGTGAGATAAGTGGTC 0.507 HNSCC(54;0.14) TRAPPC9 83696 broad.mit.edu 37 8 141321391 141321391 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:141321391G>A uc003yvj.2 - 10 1712 c.1578C>T c.(1576-1578)GGC>GGT p.G526G TRAPPC9_uc003yvh.2_Silent_p.G624G|TRAPPC9_uc003yvi.1_Silent_p.G517G NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 526 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 GCAGGGTGAGGCCGCCAGGGA 0.582 BAI1 575 broad.mit.edu 37 8 143602199 143602199 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:143602199G>A uc003ywm.2 + 19 3120 c.2937G>A c.(2935-2937)GAG>GAA p.E979E NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 979 Cytoplasmic (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TTCGCTCAGAGCGTTCTGTCA 0.582 LY6D 8581 broad.mit.edu 37 8 143867013 143867013 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:143867013G>A uc003yxf.1 - 2 219 c.143C>T c.(142-144)ACG>ATG p.T48M NM_003695 NP_003686 Q14210 LY6D_HUMAN lymphocyte antigen 6 complex, locus D precursor 48 UPAR/Ly6. cell adhesion anchored to membrane|membrane fraction|plasma membrane protein binding 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACCTGTGTTCGTGGTCTTGCA 0.642 MAPK15 225689 broad.mit.edu 37 8 144803816 144803816 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:144803816G>T uc003yzj.2 + 12 1343 c.1302G>T c.(1300-1302)AAG>AAT p.K434N NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 434 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTGGGGCGAAGGAAGCGCCCC 0.637 FAM83H 286077 broad.mit.edu 37 8 144811445 144811445 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:144811445C>T uc003yzk.2 - 3 565 c.496G>A c.(496-498)GAA>AAA p.E166K FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 166 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCCAGCACTTCGCTGAGCAGG 0.637 NRBP2 340371 broad.mit.edu 37 8 144921062 144921062 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:144921062G>A uc011lkt.1 - 9 877 c.737C>T c.(736-738)GCG>GTG p.A246V NRBP2_uc003yzv.2_Missense_Mutation_p.A3V|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_Missense_Mutation_p.A3V|NRBP2_uc011lks.1_Missense_Mutation_p.A3V|NRBP2_uc003yzy.2_Missense_Mutation_p.A3V NM_178564 NP_848659 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 246 Protein kinase. negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2) 2 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TACCTCCAGCGCACACATCCC 0.622 EPPK1 83481 broad.mit.edu 37 8 144944907 144944907 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:144944907A>C uc003zaa.1 - 1 2528 c.2515T>G c.(2515-2517)TCT>GCT p.S839A NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 839 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AAGTACTCAGAGTTGATCAGC 0.652 PLEC 5339 broad.mit.edu 37 8 144993950 144993950 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:144993950C>T uc003zaf.1 - 32 10620 c.10450G>A c.(10450-10452)GTG>ATG p.V3484M PLEC_uc003zab.1_Missense_Mutation_p.V3347M|PLEC_uc003zac.1_Missense_Mutation_p.V3351M|PLEC_uc003zad.2_Missense_Mutation_p.V3347M|PLEC_uc003zae.1_Missense_Mutation_p.V3315M|PLEC_uc003zag.1_Missense_Mutation_p.V3325M|PLEC_uc003zah.2_Missense_Mutation_p.V3333M|PLEC_uc003zaj.2_Missense_Mutation_p.V3374M NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3484 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGCGTCCGCACGGAGCCCAGC 0.657 HEATR7A 727957 broad.mit.edu 37 8 145278100 145278100 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:145278100C>T uc003zbk.3 + 14 1542 c.1305C>T c.(1303-1305)ATC>ATT p.I435I HEATR7A_uc011lla.1_Silent_p.I435I|HEATR7A_uc010mft.2_Silent_p.I435I NM_032450 NP_115826 Q8NDA8 HTR7A_HUMAN HEAT repeat containing 7A isoform 1 435 binding 0 TCGAGTACATCGTGCAGCAGT 0.662 NFKBIL2 4796 broad.mit.edu 37 8 145667679 145667679 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:145667679G>A uc011llg.1 - 6 710 c.695C>T c.(694-696)GCG>GTG p.A232V NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 232 TPR 5. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CATGGTGTGCGCACACTCCCG 0.647 PPP1R16A 84988 broad.mit.edu 37 8 145725483 145725483 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:145725483G>A uc003zdd.2 + 5 1394 c.481G>A c.(481-483)GCC>ACC p.A161T uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.A161T|GPT_uc011lli.1_5'Flank NM_032902 NP_116291 Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory (inhibitor) 161 ANK 3. plasma membrane protein binding 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGCAGTGGCGCCAATCTCCT 0.657 ARHGAP39 80728 broad.mit.edu 37 8 145830920 145830920 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:145830920C>T uc003zdt.1 - 3 635 c.80G>A c.(79-81)CGG>CAG p.R27Q ARHGAP39_uc011llk.1_Missense_Mutation_p.R27Q|ARHGAP39_uc003zds.1_Missense_Mutation_p.R27Q NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 27 WW 1. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GGCTCCTTACCGAGTGTTCGA 0.602 ZNF7 7553 broad.mit.edu 37 8 146067087 146067087 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:146067087G>A uc003zeg.3 + 5 732 c.595G>A c.(595-597)GAG>AAG p.E199K ZNF7_uc010mge.2_Missense_Mutation_p.E210K|ZNF7_uc011lln.1_Missense_Mutation_p.E103K|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Missense_Mutation_p.E103K|COMMD5_uc003zel.1_RNA NM_003416 NP_003407 P17097 ZNF7_HUMAN zinc finger protein 7 199 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) CCAGAGATGCGAGGAGTGTGG 0.502 C8orf33 65265 broad.mit.edu 37 8 146278736 146278736 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:146278736C>T uc003zfc.3 + 4 511 c.457C>T c.(457-459)CCC>TCC p.P153S C8orf33_uc003zfd.2_RNA NM_023080 NP_075568 Q9H7E9 CH033_HUMAN hypothetical protein LOC65265 153 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) AACGCCCTTGCCCCGGAAGAG 0.537 RFX3 5991 broad.mit.edu 37 9 3257056 3257056 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:3257056G>T uc003zhr.2 - 15 2061 c.1749C>A c.(1747-1749)CCC>CCA p.P583P RFX3_uc010mhd.2_Silent_p.P583P|RFX3_uc003zhs.1_Silent_p.P583P NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 583 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TTCCTTCATAGGGTTTCAGTG 0.468 GLIS3 169792 broad.mit.edu 37 9 3828391 3828391 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:3828391T>C uc003zhw.1 - 10 2403 c.2209A>G c.(2209-2211)AGT>GGT p.S737G GLIS3_uc003zhx.1_Missense_Mutation_p.S892G|GLIS3_uc010mhf.1_Missense_Mutation_p.S286G|GLIS3_uc003zhv.1_RNA NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 737 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CTCGAGGAACTTGAAGGTAAA 0.537 JAK2 3717 broad.mit.edu 37 9 5022214 5022214 + Splice_Site SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:5022214G>A uc010mhm.2 + 2 339 c.226_splice c.e2+1 p.G76_splice JAK2_uc003ziw.2_Splice_Site_p.G76_splice NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) AAAGCTTGTGGTAAGTATTAA 0.323 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial FREM1 158326 broad.mit.edu 37 9 14851500 14851500 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:14851500G>T uc003zlm.2 - 6 1524 c.934C>A c.(934-936)CTG>ATG p.L312M FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 312 CSPG 1. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) AAGGAGGTCAGGATGAACTGA 0.488 KIAA1797 54914 broad.mit.edu 37 9 20789392 20789392 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:20789392A>G uc003zog.1 + 13 1603 c.1240A>G c.(1240-1242)ACA>GCA p.T414A NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 414 Helical; (Potential). integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TATGTATGGTACAATATTTAC 0.393 C9orf82 79886 broad.mit.edu 37 9 26842611 26842611 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:26842611A>G uc003zqc.2 - 6 786 c.774T>C c.(772-774)AAT>AAC p.N258N C9orf82_uc003zqb.2_Silent_p.N113N NM_024828 NP_079104 Q9H8G2 CI082_HUMAN hypothetical protein LOC79886 258 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) AAGCATCTGCATTTATACTGA 0.433 ACO1 48 broad.mit.edu 37 9 32418455 32418455 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:32418455G>A uc003zqw.3 + 6 759 c.604G>A c.(604-606)GTG>ATG p.V202M ACO1_uc010mjh.1_Missense_Mutation_p.V36M|ACO1_uc003zqx.3_Missense_Mutation_p.V202M|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 202 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) AGACAGCCTCGTGGGCACAGA 0.458 ACO1 48 broad.mit.edu 37 9 32436322 32436322 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:32436322C>T uc003zqw.3 + 18 2329 c.2174C>T c.(2173-2175)GCC>GTC p.A725V ACO1_uc010mjh.1_3'UTR|ACO1_uc003zqx.3_Missense_Mutation_p.A725V|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 725 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) GGAACATTTGCCAACATTCGC 0.493 TAF1L 138474 broad.mit.edu 37 9 32631546 32631546 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:32631546G>A uc003zrg.1 - 1 4122 c.4032C>T c.(4030-4032)TTC>TTT p.F1344F uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1344 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCTGTTTCCCGAAGACAATTT 0.428 TAF1L 138474 broad.mit.edu 37 9 32632408 32632408 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:32632408T>C uc003zrg.1 - 1 3260 c.3170A>G c.(3169-3171)CAT>CGT p.H1057R uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1057 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTCTCCAGAATGAGCCTGTTC 0.468 RECK 8434 broad.mit.edu 37 9 36118810 36118810 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:36118810T>G uc003zyv.2 + 18 2396 c.2310T>G c.(2308-2310)AGT>AGG p.S770R RECK_uc003zyw.2_Missense_Mutation_p.S642R|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 770 Kazal-like 3. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CCTACAGCAGTGTGTGTGCTG 0.557 MELK 9833 broad.mit.edu 37 9 36589613 36589613 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:36589613G>A uc003zzn.2 + 4 363 c.225G>A c.(223-225)GTG>GTA p.V75V MELK_uc011lpm.1_5'UTR|MELK_uc011lpn.1_Silent_p.V75V|MELK_uc011lpo.1_5'UTR|MELK_uc010mll.2_Silent_p.V43V|MELK_uc011lpp.1_Silent_p.V75V|MELK_uc010mlm.2_Intron|MELK_uc011lpq.1_5'UTR|MELK_uc011lpr.1_Silent_p.V75V|MELK_uc011lps.1_Silent_p.V43V NM_014791 NP_055606 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 75 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) TCTACCATGTGCTAGAGACAG 0.383 PGM5 5239 broad.mit.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:70993145A>G uc004agr.2 + 2 521 c.292A>G c.(292-294)ATC>GTC p.I98V NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 98 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 ACAGAATGGCATCTTGTCGAC 0.478 ANXA1 301 broad.mit.edu 37 9 75784009 75784009 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:75784009T>C uc004ajf.1 + 12 997 c.923T>C c.(922-924)ATG>ACG p.M308T ANXA1_uc004aje.1_Missense_Mutation_p.M308T|ANXA1_uc004ajg.1_Missense_Mutation_p.M308T NM_000700 NP_000691 P04083 ANXA1_HUMAN annexin I 308 Annexin 4. alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1) 2 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) GAAATTGACATGAATGATATC 0.403 TRPM6 140803 broad.mit.edu 37 9 77457094 77457094 + Silent SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:77457094G>T uc004ajl.1 - 4 556 c.318C>A c.(316-318)ACC>ACA p.T106T TRPM6_uc004ajk.1_Silent_p.T101T|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.T106T|TRPM6_uc010mpd.1_Silent_p.T106T|TRPM6_uc010mpe.1_Silent_p.T106T|TRPM6_uc004ajn.1_Silent_p.T106T NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 106 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TGGCATGATGGGTGTGCTCTC 0.299 PRUNE2 158471 broad.mit.edu 37 9 79324209 79324209 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:79324209T>C uc010mpk.2 - 8 3105 c.2981A>G c.(2980-2982)GAA>GGA p.E994G NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 994 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CTCAAAACCTTCCTCTTTAGC 0.448 PRUNE2 158471 broad.mit.edu 37 9 79325181 79325181 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:79325181G>A uc010mpk.2 - 8 2133 c.2009C>T c.(2008-2010)GCG>GTG p.A670V NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 670 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GGAACTCCACGCATCTGCAAT 0.488 SEMA4D 10507 broad.mit.edu 37 9 92006308 92006308 + Silent SNP G G A rs62638727 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:92006308G>A uc004aqo.1 - 11 1217 c.645C>T c.(643-645)GAC>GAT p.D215D SEMA4D_uc011ltm.1_Silent_p.D215D|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.D213D NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 215 Sema.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 TTCGGATCACGTCAGCAAACA 0.567 NFIL3 4783 broad.mit.edu 37 9 94171822 94171822 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:94171822G>A uc004arh.2 - 2 1590 c.1195C>T c.(1195-1197)CAT>TAT p.H399Y NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 399 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 TCTTTTTGATGCCAGTGCTCC 0.408 ROR2 4920 broad.mit.edu 37 9 94486449 94486449 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:94486449C>T uc004arj.1 - 9 2526 c.2327G>A c.(2326-2328)AGC>AAC p.S776N ROR2_uc004ari.1_Missense_Mutation_p.S636N NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 776 Ser/Thr-rich.|Cytoplasmic (Potential). negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GCTCACTGGGCTGGTGCTCAG 0.652 FAM120A 23196 broad.mit.edu 37 9 96320140 96320140 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:96320140G>A uc004atw.2 + 14 2541 c.2516G>A c.(2515-2517)CGC>CAC p.R839H FAM120A_uc004aty.2_Missense_Mutation_p.R620H|FAM120A_uc004atz.2_Missense_Mutation_p.R488H|FAM120A_uc010mrg.2_Missense_Mutation_p.R152H NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 839 RNA binding. cytoplasm|plasma membrane RNA binding 0 GAGAAGATGCGCCAGAGCGTC 0.577 SEC61B 10952 broad.mit.edu 37 9 101990194 101990194 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:101990194T>C uc004azh.2 + 3 191 c.115T>C c.(115-117)TGT>CGT p.C39R NM_006808 NP_006799 P60468 SC61B_HUMAN Sec61 beta subunit 39 Cytoplasmic (Potential). C->S: Abolishes S-acylation. ER-associated protein catabolic process|protein import into nucleus, translocation|retrograde protein transport, ER to cytosol|transmembrane transport endoplasmic reticulum Sec complex|integral to membrane epidermal growth factor binding 0 Acute lymphoblastic leukemia(62;0.0559) AAATGCCAGCTGTGGGACAAG 0.448 OR13C3 138803 broad.mit.edu 37 9 107298417 107298417 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:107298417A>G uc004bcb.1 - 1 678 c.678T>C c.(676-678)ATT>ATC p.I226I NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 226 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 CCATGGTGATAATATTGAGGG 0.388 TXNDC8 255220 broad.mit.edu 37 9 113091532 113091532 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:113091532C>T uc004bes.2 - 3 218 c.169G>A c.(169-171)GTG>ATG p.V57M TXNDC8_uc011lwl.1_Intron NM_001003936 NP_001003936 Q6A555 TXND8_HUMAN thioredoxin domain containing 8 57 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis Golgi apparatus electron carrier activity|protein disulfide oxidoreductase activity 0 TTCACATCCACATTAGCAAAA 0.299 ZNF483 158399 broad.mit.edu 37 9 114305051 114305051 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:114305051C>T uc004bff.2 + 6 2060 c.1836C>T c.(1834-1836)TGC>TGT p.C612C ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 612 C2H2-type 7. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GTAATGATTGCGGAATGACTT 0.393 SLC31A2 1318 broad.mit.edu 37 9 115925105 115925105 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:115925105G>A uc004bgq.2 + 4 457 c.340G>A c.(340-342)GTA>ATA p.V114I NM_001860 NP_001851 O15432 COPT2_HUMAN solute carrier family 31 (copper transporters), 114 Helical; (Potential). integral to plasma membrane copper ion transmembrane transporter activity 0 CATGCTGGCCGTAATGTCCTA 0.488 TRAF1 7185 broad.mit.edu 37 9 123675628 123675628 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:123675628C>T uc004bku.1 - 5 1255 c.683G>A c.(682-684)CGC>CAC p.R228H TRAF1_uc011lyg.1_Missense_Mutation_p.R106H|TRAF1_uc010mvl.1_Missense_Mutation_p.R228H NM_005658 NP_005649 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 228 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding skin(2)|ovary(1) 3 GCTCAGGATGCGCTCACGGTC 0.617 TTLL11 158135 broad.mit.edu 37 9 124752027 124752027 + Missense_Mutation SNP T T G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:124752027T>G uc004blt.1 - 4 1174 c.986A>C c.(985-987)GAC>GCC p.D329A TTLL11_uc011lyl.1_Missense_Mutation_p.D329A|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.D6A|TTLL11_uc004blu.1_Nonstop_Mutation_p.*284C NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 329 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 CCAGGAGGGGTCATCGTCTTT 0.358 OR1N1 138883 broad.mit.edu 37 9 125288709 125288709 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:125288709A>G uc004bmn.1 - 1 864 c.864T>C c.(862-864)TAT>TAC p.Y288Y NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1)|breast(1)|skin(1) 3 TCCTTAGGCTATAGATAAAGG 0.438 STRBP 55342 broad.mit.edu 37 9 125932264 125932264 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:125932264C>T uc004bns.2 - 6 882 c.452G>A c.(451-453)CGG>CAG p.R151Q STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Missense_Mutation_p.R137Q|STRBP_uc004bnv.2_Missense_Mutation_p.R151Q NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 151 DZF. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 TTTTGTATTCCGAATTATAAT 0.348 PBX3 5090 broad.mit.edu 37 9 128692121 128692121 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:128692121C>T uc004bqb.2 + 4 820 c.704C>T c.(703-705)GCC>GTC p.A235V PBX3_uc004bqc.2_Missense_Mutation_p.A54V|PBX3_uc004bqd.2_Missense_Mutation_p.A54V|PBX3_uc011lzw.1_Missense_Mutation_p.A160V|PBX3_uc011lzx.1_Missense_Mutation_p.A146V|PBX3_uc004bqe.2_Missense_Mutation_p.A122V NM_006195 NP_006186 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 isoform 1 235 Homeobox; TALE-type. anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 TTCCTTGATGCCAGGTATGTG 0.398 TOR2A 27433 broad.mit.edu 37 9 130496638 130496638 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:130496638G>A uc004brs.3 - 2 412 c.357C>T c.(355-357)CGC>CGT p.R119R TOR2A_uc004brt.3_Silent_p.R119R|TOR2A_uc004brw.3_Silent_p.R119R|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR NM_001085347 NP_001078816 Q5JU69 TOR2A_HUMAN torsin family 2, member A isoform a 119 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity 0 AGTGGTGCACGCGGGGGCTGC 0.652 OREG0019509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GOLGA2 2801 broad.mit.edu 37 9 131019737 131019737 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:131019737C>T uc011maw.1 - 25 2718 c.2705G>A c.(2704-2706)AGA>AAA p.R902K GOLGA2_uc010mxw.2_Missense_Mutation_p.R225K|GOLGA2_uc004buh.2_Intron NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 902 Golgi cisterna membrane protein binding ovary(1) 1 TGCCAGGAATCTGCCATGCCA 0.642 SPTAN1 6709 broad.mit.edu 37 9 131339690 131339690 + Silent SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:131339690A>G uc004bvl.3 + 8 1103 c.990A>G c.(988-990)ACA>ACG p.T330T SPTAN1_uc011mbg.1_Silent_p.T330T|SPTAN1_uc011mbh.1_Silent_p.T342T|SPTAN1_uc004bvm.3_Silent_p.T330T|SPTAN1_uc004bvn.3_Silent_p.T330T NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 330 Spectrin 4. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGAGTGCAACACAGATTCAAG 0.527 SPTAN1 6709 broad.mit.edu 37 9 131375680 131375680 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:131375680C>T uc004bvl.3 + 39 5162 c.5049C>T c.(5047-5049)TCC>TCT p.S1683S SPTAN1_uc004bvm.3_Silent_p.S1688S|SPTAN1_uc004bvn.3_Silent_p.S1663S NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1683 Spectrin 18. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGCTGGCATCCGAAGATTATG 0.483 CRAT 1384 broad.mit.edu 37 9 131864220 131864220 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:131864220G>A uc004bxh.2 - 6 1029 c.747C>T c.(745-747)GGC>GGT p.G249G CRAT_uc004bxg.2_Silent_p.G228G|CRAT_uc004bxk.3_Silent_p.G228G NM_000755 NP_000746 P43155 CACP_HUMAN carnitine acetyltransferase precursor 249 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) AGGTGAGGATGCCCACAGGCT 0.592 GTF3C4 9329 broad.mit.edu 37 9 135553705 135553705 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:135553705C>T uc010mzv.2 + 2 957 c.699C>T c.(697-699)CTC>CTT p.L233L GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 233 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) AAGGAAATCTCGGGGATTTTG 0.517 SLC2A6 11182 broad.mit.edu 37 9 136337261 136337261 + Missense_Mutation SNP G G A rs146699447 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:136337261G>A uc004cee.2 - 10 1501 c.1406C>T c.(1405-1407)GCG>GTG p.A469V SLC2A6_uc004cef.2_Missense_Mutation_p.A407V|SLC2A6_uc004ceg.2_Missense_Mutation_p.A446V NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose 469 Helical; Name=12; (Potential). integral to membrane|plasma membrane D-glucose transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GCAGATGGCCGCGAAGAAGAA 0.642 KIAA0649 9858 broad.mit.edu 37 9 138376423 138376423 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:138376423G>A uc004cfr.1 + 4 616 c.67G>A c.(67-69)GGG>AGG p.G23R NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 23 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) TGGCCCGCCAGGGAGCTGTAG 0.637 QSOX2 169714 broad.mit.edu 37 9 139100732 139100732 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:139100732C>T uc010nbi.2 - 12 1977 c.1939G>A c.(1939-1941)GGG>AGG p.G647R NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 647 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) GGTGCGGCCCCGCCCACCTCC 0.617 SEC16A 9919 broad.mit.edu 37 9 139368937 139368937 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:139368937A>G uc004chx.2 - 3 3440 c.3131T>C c.(3130-3132)GTC>GCC p.V1044A SEC16A_uc004chv.3_Missense_Mutation_p.V434A|SEC16A_uc004chw.2_Missense_Mutation_p.V1044A|SEC16A_uc010nbn.2_Missense_Mutation_p.V1044A|SEC16A_uc010nbo.1_Missense_Mutation_p.V1044A NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 866 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ATCTTTCGTGACCTGCTGATA 0.592 NOTCH1 4851 broad.mit.edu 37 9 139395218 139395218 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:139395218G>A uc004chz.2 - 31 5720 c.5720C>T c.(5719-5721)CCG>CTG p.P1907L NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1907 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GATGACGGCCGGCGCGTCCTC 0.687 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) NELF 26012 broad.mit.edu 37 9 140350863 140350863 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:140350863G>A uc004cna.2 - 4 936 c.704C>T c.(703-705)GCC>GTC p.A235V C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_5'Flank|NELF_uc010nci.2_Missense_Mutation_p.A3V|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.A235V|NELF_uc004cmz.2_Missense_Mutation_p.A235V|NELF_uc004cnc.2_Missense_Mutation_p.A235V|NELF_uc004cnb.2_Missense_Mutation_p.A235V NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 235 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) CAAGACTCACGCTTGCATAGT 0.532 EHMT1 79813 broad.mit.edu 37 9 140672338 140672338 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:140672338G>A uc011mfc.1 + 13 2060 c.2023G>A c.(2023-2025)GCC>ACC p.A675T EHMT1_uc004coa.2_Missense_Mutation_p.A675T|EHMT1_uc004cob.1_Missense_Mutation_p.A644T NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 675 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CTGAAGTGCTGCCGGGCCACC 0.597 PLCXD1 55344 broad.mit.edu 37 X 200930 200930 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:200930G>A uc004cpc.2 + 2 388 c.76G>A c.(76-78)GCA>ACA p.A26T PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 26 intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGGATGTCGGCACTGTGTCC 0.642 KAL1 3730 broad.mit.edu 37 X 8504917 8504917 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:8504917G>A uc004csf.2 - 11 1666 c.1516C>T c.(1516-1518)CGG>TGG p.R506W NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 506 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 CTTTTTGGCCGTATTGGTTGG 0.443 WWC3 55841 broad.mit.edu 37 X 10046875 10046875 + Missense_Mutation SNP C C A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:10046875C>A uc004csx.3 + 4 455 c.257C>A c.(256-258)CCA>CAA p.P86Q WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_5'Flank NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 86 Potential. ovary(4) 4 AAGTATGACCCACACCAAATT 0.378 ARHGAP6 395 broad.mit.edu 37 X 11682500 11682500 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:11682500C>T uc004cup.1 - 1 1322 c.449G>A c.(448-450)CGA>CAA p.R150Q ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.R150Q NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 150 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 GGAAGCGCTTCGGCTACTGGC 0.622 ASB9 140462 broad.mit.edu 37 X 15287932 15287932 + Missense_Mutation SNP A A C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:15287932A>C uc004cwl.2 - 1 312 c.65T>G c.(64-66)ATC>AGC p.I22S ASB9_uc004cwk.2_Missense_Mutation_p.I22S|ASB9_uc004cwm.2_Missense_Mutation_p.I22S|ASB9_uc010ner.2_Missense_Mutation_p.I22S|ASB9_uc004cwn.2_Missense_Mutation_p.I22S NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 22 intracellular signal transduction 0 Hepatocellular(33;0.183) AAGAAGCCTGATGCCAGGAAA 0.582 SYAP1 94056 broad.mit.edu 37 X 16773179 16773179 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:16773179G>A uc004cxp.2 + 6 780 c.687G>A c.(685-687)GAG>GAA p.E229E SYAP1_uc004cxo.2_Silent_p.E229E|SYAP1_uc011miv.1_Silent_p.E195E NM_032796 NP_116185 Q96A49 SYAP1_HUMAN SYAP1 protein 229 skin(1) 1 Hepatocellular(33;0.0997) GGAAGGAGGAGAAGAGCAATG 0.517 SCML2 10389 broad.mit.edu 37 X 18278348 18278348 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:18278348G>A uc004cyl.2 - 9 1169 c.1012C>T c.(1012-1014)CGT>TGT p.R338C SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.R338C|SCML2_uc011miz.1_Missense_Mutation_p.R272C|SCML2_uc010nfc.2_Missense_Mutation_p.R74C NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 338 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) AACATGCCACGGTCTCTGGTC 0.338 PPEF1 5475 broad.mit.edu 37 X 18836177 18836177 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:18836177G>A uc004cyq.2 + 16 1896 c.1415G>A c.(1414-1416)AGC>AAC p.S472N PPEF1_uc004cyp.2_Missense_Mutation_p.S444N|PPEF1_uc004cyr.2_Missense_Mutation_p.S410N|PPEF1_uc004cys.2_Missense_Mutation_p.S472N|PPEF1_uc011mja.1_Missense_Mutation_p.S407N|PPEF1_uc011mjb.1_Missense_Mutation_p.S416N NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 472 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) ATGGAAAACAGCGCCATCAAG 0.333 PHKA2 5256 broad.mit.edu 37 X 18949781 18949781 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:18949781A>G uc004cyv.3 - 12 1653 c.1223T>C c.(1222-1224)ATC>ACC p.I408T NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 408 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) CGAGCTGAGGATGTACAAGGA 0.527 OREG0019698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PHKA2 5256 broad.mit.edu 37 X 18969342 18969342 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:18969342G>T uc004cyv.3 - 4 764 c.334C>A c.(334-336)CTG>ATG p.L112M PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Missense_Mutation_p.L54M NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 112 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) TTGGCGTGCAGGCTGTCCTTG 0.602 FAM47A 158724 broad.mit.edu 37 X 34148723 34148723 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:34148723G>A uc004ddg.2 - 1 1706 c.1673C>T c.(1672-1674)CCG>CTG p.P558L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 558 ovary(4)|central_nervous_system(1) 5 GGGAGGCTCCGGGTGGAGACT 0.582 FAM47C 442444 broad.mit.edu 37 X 37026602 37026602 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:37026602T>C uc004ddl.1 + 1 133 c.119T>C c.(118-120)TTC>TCC p.F40S NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 40 ovary(3) 3 CGCCTGAGGTTCCCGCCTGTG 0.607 KDM6A 7403 broad.mit.edu 37 X 44918711 44918711 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:44918711G>T uc004dge.3 + 12 1569 c.1194G>T c.(1192-1194)CAG>CAT p.Q398H KDM6A_uc010nhk.2_Missense_Mutation_p.Q398H|KDM6A_uc011mkz.1_Missense_Mutation_p.Q398H|KDM6A_uc011mla.1_Missense_Mutation_p.Q398H|KDM6A_uc011mlb.1_Missense_Mutation_p.Q398H|KDM6A_uc011mlc.1_Missense_Mutation_p.Q147H|KDM6A_uc011mld.1_Missense_Mutation_p.Q64H NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 398 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 AGTATTTACAGGTAAAATTTT 0.393 D|N|F|S renal|oesophageal SCC|MM KCND1 3750 broad.mit.edu 37 X 48826374 48826374 + Missense_Mutation SNP C C T rs147541534 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:48826374C>T uc004dlx.1 - 1 1878 c.305G>A c.(304-306)CGG>CAG p.R102Q KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 102 Cytoplasmic (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 GCAATGCAGCCGCCCCGTTCG 0.577 MAGIX 79917 broad.mit.edu 37 X 49022484 49022484 + Missense_Mutation SNP T T A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:49022484T>A uc010nin.1 + 6 798 c.751T>A c.(751-753)TCC>ACC p.S251T MAGIX_uc010nio.1_Missense_Mutation_p.S175T|MAGIX_uc004dmt.2_Missense_Mutation_p.S170T|MAGIX_uc004dmu.2_Missense_Mutation_p.S192T|MAGIX_uc004dmw.2_Missense_Mutation_p.S179T NM_024859 NP_079135 Q9H6Y5 MAGIX_HUMAN MAGI family member, X-linked isoform a 251 0 CAGCAGCACTTCCCTAGTTCA 0.647 GSPT2 23708 broad.mit.edu 37 X 51488294 51488294 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:51488294T>C uc004dpl.2 + 1 1798 c.1572T>C c.(1570-1572)GTT>GTC p.V524V NM_018094 NP_060564 Q8IYD1 ERF3B_HUMAN peptide chain release factor 3 524 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 Ovarian(276;0.236) CGTTTGATGTTCAGATAGTGA 0.403 ZXDA 7789 broad.mit.edu 37 X 57935575 57935575 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:57935575C>T uc004dve.2 - 1 1493 c.1280G>A c.(1279-1281)TGC>TAC p.C427Y NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 427 C2H2-type 6.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TTGCTTGCTGCAGCCAGGGAA 0.502 SLC7A3 84889 broad.mit.edu 37 X 70148313 70148313 + Missense_Mutation SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:70148313T>C uc004dyn.2 - 4 858 c.700A>G c.(700-702)ACC>GCC p.T234A SLC7A3_uc004dyo.2_Missense_Mutation_p.T234A NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 234 Helical; Name=6; (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AACCTATAGGTGTCATTGAGT 0.493 SLC16A2 6567 broad.mit.edu 37 X 73641744 73641744 + Missense_Mutation SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:73641744G>A uc004ebt.2 + 1 660 c.494G>A c.(493-495)GGC>GAC p.G165D NM_006517 NP_006508 P36021 MOT8_HUMAN solute carrier family 16, member 2 91 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|ovary(1) 3 Pyruvic acid(DB00119) ACCGCGCGCGGCTTCCAGCCT 0.677 SATL1 340562 broad.mit.edu 37 X 84362935 84362935 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:84362935C>T uc011mqx.1 - 1 1040 c.1040G>A c.(1039-1041)AGC>AAC p.S347N SATL1_uc004een.2_Missense_Mutation_p.S347N NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 160 Gln-rich. N-acetyltransferase activity breast(2) 2 ACCTGGTTGGCTTATGCTTGC 0.547 CHM 1121 broad.mit.edu 37 X 85219036 85219036 + Silent SNP G G A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:85219036G>A uc004eet.2 - 5 366 c.336C>T c.(334-336)GTC>GTT p.V112V CHM_uc011mqz.1_5'UTR NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 112 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) CAGCTTCTTCGACATCTTCAT 0.398 CSTF2 1478 broad.mit.edu 37 X 100079177 100079177 + Silent SNP T T C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:100079177T>C uc004egh.2 + 6 691 c.633T>C c.(631-633)GCT>GCC p.A211A CSTF2_uc010nnd.2_Silent_p.A211A|CSTF2_uc004egi.2_Silent_p.A211A NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 211 Interactions with CSTF3 and SYMPK.|Gly/Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 TCCATGGTGCTGGGCCTGGCT 0.478 TCEAL6 158931 broad.mit.edu 37 X 101396012 101396012 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:101396012C>T uc004eiq.2 - 3 453 c.292G>A c.(292-294)GAA>AAA p.E98K NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GGGCGCTTTTCGGCGGCCCGC 0.612 NGFRAP1 27018 broad.mit.edu 37 X 102632528 102632528 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:102632528C>T uc004eki.2 + 3 491 c.109C>T c.(109-111)CGG>TGG p.R37W NGFRAP1_uc004ekh.2_Missense_Mutation_p.R27W|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R37W NM_206915 NP_996798 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) 37 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding 0 AGGAAATCGACGGGGACAGGC 0.522 FAM199X 139231 broad.mit.edu 37 X 103434328 103434328 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:103434328C>T uc004elw.2 + 6 1202 c.1036C>T c.(1036-1038)CGC>TGC p.R346C FAM199X_uc004elx.2_Missense_Mutation_p.R120C NM_207318 NP_997201 Q6PEV8 F199X_HUMAN hypothetical protein LOC139231 346 ovary(1) 1 GAAGGCCTTCCGCAAGAGGCA 0.483 SLC6A14 11254 broad.mit.edu 37 X 115582794 115582794 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:115582794C>T uc004eqi.2 + 8 1222 c.1118C>T c.(1117-1119)GCC>GTC p.A373V NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 373 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) GGACACATGGCCCATATATCT 0.328 XPNPEP2 7512 broad.mit.edu 37 X 128879240 128879240 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:128879240C>T uc004eut.1 + 4 540 c.296C>T c.(295-297)GCA>GTA p.A99V XPNPEP2_uc011mum.1_Missense_Mutation_p.A99V NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 99 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 ACAGGGTCTGCAGGTGACAAT 0.507 UTP14A 10813 broad.mit.edu 37 X 129060265 129060265 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:129060265C>T uc004euz.2 + 14 2021 c.1993C>T c.(1993-1995)CCA>TCA p.P665S UTP14A_uc011mup.1_Missense_Mutation_p.P613S|UTP14A_uc011muq.1_Missense_Mutation_p.P611S NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 665 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 TAAGAATTTGCCAAATGTGAT 0.458 OREG0019920 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FHL1 2273 broad.mit.edu 37 X 135290661 135290661 + Silent SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:135290661C>T uc004ezo.2 + 5 649 c.549C>T c.(547-549)GCC>GCT p.A183A FHL1_uc010nrz.2_Silent_p.A183A|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Silent_p.A183A|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Silent_p.A183A|FHL1_uc011mvz.1_Silent_p.A183A|FHL1_uc004ezn.2_Silent_p.A183A|FHL1_uc011mwa.1_Silent_p.A212A|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Silent_p.A199A|FHL1_uc004ezr.2_Missense_Mutation_p.P2L NM_001159702 NP_001153174 Q13642 FHL1_HUMAN four and a half LIM domains 1 isoform 1 183 LIM zinc-binding 3. cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) CCTGGCATGCCGATTGCTTTG 0.478 VGLL1 51442 broad.mit.edu 37 X 135631137 135631137 + Missense_Mutation SNP C C T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:135631137C>T uc004ezy.2 + 3 774 c.604C>T c.(604-606)CTC>TTC p.L202F MIR934_hsa-mir-934|MI0005756_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN vestigial like 1 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 0 Acute lymphoblastic leukemia(192;0.000127) CACAGGGTTGCTCTTCAACCT 0.552 F9 2158 broad.mit.edu 37 X 138630579 138630579 + Missense_Mutation SNP A A G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:138630579A>G uc004fas.1 + 5 478 c.449A>G c.(448-450)GAT>GGT p.D150G F9_uc004fat.1_Missense_Mutation_p.D112G NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 150 EGF-like 2. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AATAGTGCTGATAACAAGGTG 0.368 HCFC1 3054 broad.mit.edu 37 X 153220897 153220897 + Missense_Mutation SNP G G T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:153220897G>T uc004fjp.2 - 17 3481 c.2953C>A c.(2953-2955)CCG>ACG p.P985T NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 985 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTGTAGTCGGGGAGGCCAGA 0.637 THADA 63892 broad.mit.edu 37 2 43799004 43799004 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:43799003_43799003TA>T uc002rsw.4 - 13 2261 c.1909_splice c.e13-1 p.V637_splice THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 637 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TATCCTTACCTAAAAAACATC 0.318 PREPL 9581 broad.mit.edu 37 2 44550553 44550553 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:44550552_44550552TA>T uc002ruf.3 - 11 2706 c.1747_splice c.e11-1 p.A583_splice PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA. 583 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GAAAGGTGCCTAAAAAAAAGG 0.333 USP34 9736 broad.mit.edu 37 2 61577527 61577527 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:61577526_61577526TA>T uc002sbe.3 - 12 1400 c.1378_splice c.e12-1 p.T460_splice NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 460 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GTACAGTGTCTAAAAAAAAGA 0.338 DYNC1I2 1781 broad.mit.edu 37 2 172563057 172563058 + Splice_Site INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:172563056_172563057G>GT uc002uha.1 + 4 392 c.227_splice c.e4-1 p.V76_splice DYNC1I2_uc002uhb.1_Intron|DYNC1I2_uc010zds.1_Intron|DYNC1I2_uc002uhc.3_Intron|DYNC1I2_uc002uhd.1_Intron|DYNC1I2_uc002uhe.1_Splice_Site_p.V76_splice|DYNC1I2_uc002uhf.1_Intron|DYNC1I2_uc010zdt.1_Intron|DYNC1I2_uc002uhg.1_5'Flank NM_001378 NP_001369 Q13409 DC1I2_HUMAN Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA. 76 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) GTACACTTCAGTTTTTTCTGAA 0.332 FASTKD3 79072 broad.mit.edu 37 5 7863113 7863113 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:7863112_7863112TA>T uc003jeb.3 - 4 1697 c.1525_splice c.e4-1 p.G509_splice FASTKD3_uc011cmp.2_Splice_Site_p.G211_splice|FASTKD3_uc003jec.3_Splice_Site NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA. 509 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TTTTGGACCCTAAAAAATCAT 0.343 RICTOR 253260 broad.mit.edu 37 5 38946657 38946658 + Splice_Site INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:38946656_38946657T>TA uc003jlo.2 - 34 4409 c.4387_splice c.e34-1 p.V1463_splice RICTOR_uc003jlp.2_Splice_Site_p.V1439_splice|RICTOR_uc010ivf.2_Splice_Site_p.V1154_splice NM_152756 NP_689969 Q6R327 RICTR_HUMAN Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA. 1439 T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade TORC2 complex|cytosol protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) ATCCTTTACCTAAAAAAAGATA 0.322 HLA-G 3135 broad.mit.edu 37 6 29797196 29797197 + Splice_Site INS - - C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:29797195_29797196A>AC uc003nnw.2 + 5 798 c.620_splice c.e5-1 p.D207_splice HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Splice_Site_p.D179_splice|HLA-G_uc003raj.3_Splice_Site_p.D212_splice|HLA-G_uc003nnz.3_Splice_Site_p.N115_splice|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Splice_Site|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA. 207 Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TTCCTTTCAGACCCCCCCAAGA 0.540 PHF1 5252 broad.mit.edu 37 6 33380026 33380026 + Splice_Site DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:33380025_33380025GC>G uc003oeh.3 + 2 221 c.-15_splice c.e2-1 PHF1_uc011drh.2_Splice_Site|PHF1_uc003oei.3_Splice_Site|PHF1_uc010jux.3_Splice_Site NM_024165 NP_077084 O43189 PHF1_HUMAN Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA. chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) TTCTGGCTAGGCCCCCCCAGG 0.537 FAM3C 10447 broad.mit.edu 37 7 121023067 121023067 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:121023066_121023066TA>T uc003vjx.3 - 2 208 c.-40_splice c.e2-1 FAM3C_uc010lkm.3_Splice_Site NM_014888 NP_055703 Q92520 FAM3C_HUMAN Homo sapiens family with sequence similarity 3, member C (FAM3C), transcript variant 1, mRNA. multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) AATATGCTCCTAAAAAATCAA 0.299 SCAMP2 10066 broad.mit.edu 37 15 75146364 75146364 + Splice_Site DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:75146363_75146363TG>T uc002azb.1 - 3 299 c.225_splice c.e3+1 p.Q75_splice SCAMP2_uc002aza.1_Splice_Site NM_005697 NP_005688 O15127 SCAM2_HUMAN Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA. 75 post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 9 CAGCACTACCTGGGGGGTCGG 0.572 PIAS2 9063 broad.mit.edu 37 18 44409833 44409833 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:44409832_44409832TA>T uc002lck.3 - 10 1390 c.1203_splice c.e10-1 p.G401_splice PIAS2_uc010dnp.3_Splice_Site_p.G99_splice|PIAS2_uc010xda.2_Splice_Site_p.G99_splice|PIAS2_uc002lcl.3_Splice_Site_p.G401_splice|PIAS2_uc002lcm.3_Splice_Site_p.G401_splice NM_004671 NP_004662 O75928 PIAS2_HUMAN Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA. 401 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body|nuclear speck DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 ATAAAAAGCCTAAAAAACAAT 0.333 TLE2 7089 broad.mit.edu 37 19 3028804 3028805 + Splice_Site INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:3028803_3028804T>TG uc010dth.3 - 2 288 c.25_splice c.e2-1 p.T9_splice TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 9 Gln-rich. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) GAGCGGGGTCTGGGGGGGGTGT 0.624 ZNF43 7594 broad.mit.edu 37 19 22002026 22002026 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:22002025_22002025TA>T uc002nqj.3 - 2 134 c.4_splice c.e2-1 p.G2_splice ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CAATGGTCCCTAAAAAAAACA 0.383 SUPT5H 6829 broad.mit.edu 37 19 39961164 39961165 + Splice_Site INS - - GT TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:39961163_39961164G>GGT uc002olo.4 + 18 1856 c.1677_splice c.e18+1 p.Q559_splice SUPT5H_uc002olp.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olq.4_Splice_Site_p.Q555_splice|SUPT5H_uc002oln.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olr.4_Splice_Site_p.Q559_splice|SUPT5H_uc002ols.1_Splice_Site_p.Q182_splice|SUPT5H_uc010egp.1_5'Flank NM_001111020 NP_003160 O00267 SPT5H_HUMAN Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA. 559 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGACCTTCCAGGTGTGTGTGTT 0.614 SMPX 23676 broad.mit.edu 37 X 21772423 21772424 + Splice_Site INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:21772422_21772423T>TA uc004daa.3 - 2 220 c.-11_splice c.e2-1 SMPX_uc022btv.1_Splice_Site NM_014332 NP_055147 Q9UHP9 SMPX_HUMAN Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA. striated muscle contraction breast(1)|endometrium(1) 2 GTCTTATCCCTAAAAAAACAAG 0.411 VASH1 22846 broad.mit.edu 37 14 77229171 77229171 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:77229171delG uc001xst.2 + 1 937 c.7delG c.(7-9)GGGfs p.G3fs VASH1_uc001xss.2_Frame_Shift_Del_p.G3fs NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 3 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) AGGGATGCCAGGGGGGAAGAA 0.647 SOLH 6650 broad.mit.edu 37 16 597450 597450 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:597450delC uc002chi.2 + 4 975 c.612delC c.(610-612)CTCfs p.L204fs SOLH_uc002chh.1_Frame_Shift_Del_p.L204fs NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 204 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) CACCTGGCCTCCCCGGGGAAG 0.741 H1FX 8971 broad.mit.edu 37 3 129034633 129034635 + In_Frame_Del DEL TTC TTC - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:129034633_129034635delTTC uc003elx.2 - 1 486_488 c.111_113delGAA c.(109-114)AAGAAT>AAT p.K37del C3orf47_uc011bkv.1_5'Flank NM_006026 NP_006017 Q92522 H1X_HUMAN H1 histone family, member X 37 nucleosome assembly nucleosome|nucleus DNA binding 0 CTTCTTGCTATTCTTCCTCTTCT 0.621 ZC4H2 55906 broad.mit.edu 37 X 64139033 64139033 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:64139033delG uc004dvu.2 - 4 538 c.450delC c.(448-450)CCCfs p.P150fs ZC4H2_uc004dvv.2_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mov.1_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 150 metal ion binding|protein binding ovary(1) 1 ACTCAGGGATGGGGGGCTCCT 0.572 BRWD3 254065 broad.mit.edu 37 X 79942445 79942446 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:79942445_79942446insT uc004edt.2 - 35 4184_4185 c.3921_3922insA c.(3919-3924)AAACAAfs p.K1307fs BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edp.2_Frame_Shift_Ins_p.K1136fs|BRWD3_uc004edq.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc010nmj.1_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edr.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eds.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edu.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004edv.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edw.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edx.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edy.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edz.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eea.2_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eeb.2_Frame_Shift_Ins_p.K903fs NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1307_1308 ovary(4) 4 TCCTTGCATTGTTTTTTCCAAG 0.386 GPRASP2 114928 broad.mit.edu 37 X 101972170 101972170 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:101972170delA uc004ejk.2 + 4 3707 c.2373delA c.(2371-2373)ATAfs p.I791fs GPRASP2_uc004ejl.2_Frame_Shift_Del_p.I791fs|GPRASP2_uc004ejm.2_Frame_Shift_Del_p.I791fs|GPRASP2_uc011mrp.1_Frame_Shift_Del_p.I130fs NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 791 cytoplasm protein binding ovary(1) 1 GTAACATTATAAAAAGTGGAA 0.323 ARID1A 8289 broad.mit.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:27105930_27105930TG>T uc001bmv.1 + 19 5914 c.5541_5541TG>T c.(5539-5541)ggtfs p.G1847fs ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1847 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.G1848fs*6(3)|p.G1847fs*36(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACA 0.582 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" AHDC1 27245 broad.mit.edu 37 1 27873977 27873977 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:27873976_27873976CG>C uc021ojw.1 - 0 4651 c.4651_4651CG>G c.(4651-4653)gtgfs p.V1551fs AHDC1_uc009vsy.3_Frame_Shift_Del_p.V1551fs|AHDC1_uc009vsz.1_Frame_Shift_Del_p.V1551fs NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA. 1551 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TCCCTCGGCACGGGGGACAGG 0.701 YTHDF2 51441 broad.mit.edu 37 1 29069581 29069581 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:29069580_29069580AC>A uc021okf.1 + 4 1061 c.798_798AC>A c.(796-798)ccafs p.P266fs YTHDF2_uc001brc.3_Frame_Shift_Del_p.P266fs|YTHDF2_uc010ofx.2_Frame_Shift_Del_p.P216fs|YTHDF2_uc001bre.3_Frame_Shift_Del_p.P216fs NM_001173128 NP_001166299 Q9Y5A9 YTHD2_HUMAN Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA. 266 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GTCTTCCGCCACCCCCGATAA 0.483 ZMYM4 9202 broad.mit.edu 37 1 35836080 35836081 + Frame_Shift_Ins INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:35836079_35836080T>TA uc001byt.3 + 6 1112_1113 c.1032_1033T>TA c.(1030-1035)tgtaaafs p.C344fs ZMYM4_uc009vuu.3_Frame_Shift_Ins_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Ins_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Ins_p.C83fs|AF119915_uc001byv.2_5'Flank NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA. 344 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTTCTGGTTGTAAAAAAATCCT 0.480 STK40 83931 broad.mit.edu 37 1 36823959 36823960 + Frame_Shift_Ins INS - - C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:36823958_36823959T>TC uc001cak.1 - 4 630_631 c.223_224A>GA c.(223-225)gacfs p.D75fs STK40_uc001cal.1_Frame_Shift_Ins_p.D80fs|STK40_uc001cam.1_Frame_Shift_Ins_p.D75fs|STK40_uc001can.1_Frame_Shift_Ins_p.D75fs NM_032017 NP_114406 Q8N2I9 STK40_HUMAN Homo sapiens serine/threonine kinase 40 (STK40), mRNA. 75 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) TATGCCTTGGTCCCCCCTCTCC 0.540 CCDC30 728621 broad.mit.edu 37 1 43002166 43002166 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:43002165_43002165GA>G uc009vwk.1 + 1 120 c.10_10GA>G c.(10-12)gaafs p.E4fs CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Frame_Shift_Del_p.E4fs NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA. 4 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AATGAGCCAAGAAAAAAATGA 0.333 CYP4Z1 199974 broad.mit.edu 37 1 47534426 47534426 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:47534425_47534425GA>G uc001cqu.1 + 1 312 c.309_309GA>G c.(307-309)ctgfs p.L103fs NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA. 103 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 AGATTCTCCTGAAAAGACAAG 0.478 PRKAA2 5563 broad.mit.edu 37 1 57169933 57169933 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:57169932_57169932TC>T uc001cyk.4 + 6 1148 c.1077_1077TC>T c.(1075-1077)attfs p.I359fs NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 359 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 CCATGCATATTCCCCCAGGCC 0.468 GNG12 55970 broad.mit.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:68171150_68171150GT>G uc001dea.2 - 3 408 c.203_203AC>C c.(202-204)actfs p.T68fs NM_018841 NP_061329 Q9UBI6 GBG12_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA. 68 G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission heterotrimeric G-protein complex signal transducer activity lung(3) 3 GATGATGCAAGTTTTTTTATC 0.433 GPSM2 29899 broad.mit.edu 37 1 109440679 109440681 + In_Frame_Del DEL AGA AGA - rs145997327 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:109440678_109440680CAGA>C uc010ovc.2 + 4 1008_1010 c.512_514CAGA>C c.(511-516)ccagaa>cCaa p.E173del AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_In_Frame_Del_p.E173del|GPSM2_uc010ove.1_In_Frame_Del_p.E173del NM_013296 NP_037428 P81274 GPSM2_HUMAN Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA. 173 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) GGAGAATTTCCAGAAGAAGTGAG 0.493 TTF2 8458 broad.mit.edu 37 1 117637937 117637938 + Frame_Shift_Del DEL TC TC - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:117637936_117637937ATC>A uc001egy.3 + 18 3002_3003 c.2982_2983ATC>A c.(2980-2985)tcatctfs p.S994fs NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA. 994 RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CCCAGATTTCATCTCTGTTGGC 0.416 PIAS3 10401 broad.mit.edu 37 1 145578385 145578385 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:145578384_145578384AC>A uc001eoc.1 + 1 438 c.347_347AC>A c.(346-348)cacfs p.H116fs PIAS3_uc010oyy.1_Frame_Shift_Del_p.H107fs|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA. 116 PINIT.|Pro-rich. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTGGACATGCACCCCCCTCTG 0.627 PRKAB2 5565 broad.mit.edu 37 1 146634134 146634134 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:146634133_146634133TG>T uc001epe.3 - 5 703 c.558_558CA>A c.(556-558)ccafs p.P186fs PRKAB2_uc010ozm.2_Frame_Shift_Del_p.P104fs|PRKAB2_uc010ozn.2_Frame_Shift_Del_p.Q64fs|PRKAB2_uc009wjf.1_Frame_Shift_Del_p.P186fs NM_005399 NP_005390 O43741 AAKB2_HUMAN Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA. 186 carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.0487) Adenosine monophosphate(DB00131) CATAAGGCCCTGGGGGTGAGC 0.403 FLG2 388698 broad.mit.edu 37 1 152324350 152324351 + Frame_Shift_Ins INS - - TG TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:152324349_152324350A>ATG uc001ezw.4 - 2 5985_5986 c.5912_5913T>CAT c.(5911-5913)catfs p.H1971fs AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1971 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGTCCTGAATGTGTGTGTGA 0.520 SLC39A1 27173 broad.mit.edu 37 1 153934781 153934781 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:153934780_153934780GC>G uc001fdl.3 - 3 700 c.234_234GC>C c.(232-234)ggcfs p.G78fs SLC39A1_uc001fdi.3_Frame_Shift_Del_p.G78fs|SLC39A1_uc001fdj.3_Frame_Shift_Del_p.G78fs|SLC39A1_uc001fdk.3_Frame_Shift_Del_p.G78fs|SLC39A1_uc010pee.2_Intron NM_014437 NP_055252 Q9NY26 S39A1_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA. 78 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) CCAAAAAGACGCCCCCCGCGA 0.612 FDPS 2224 broad.mit.edu 37 1 155288502 155288502 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:155288501_155288501GC>G uc001fkc.2 + 6 949 c.730_730GC>G c.(730-732)gccfs p.A244fs FDPS_uc021paw.1_Frame_Shift_Del_p.A178fs|FDPS_uc001fkd.2_Frame_Shift_Del_p.A178fs|FDPS_uc021pax.1_Frame_Shift_Del_p.A73fs|FDPS_uc001fke.2_Frame_Shift_Del_p.A244fs|RUSC1-AS1_uc001fkh.1_Intron|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank NM_002004 NP_001229754 P14324 FPPS_HUMAN Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA. 244 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) CCTCCTCACAGCCCCCCAGGG 0.562 MRPL24 79590 broad.mit.edu 37 1 156708387 156708387 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:156708386_156708386TG>T uc001fpw.1 - 1 250 c.111_111CA>A c.(109-111)ccafs p.P37fs MRPL24_uc001fpx.1_Frame_Shift_Del_p.P37fs NM_024540 NP_663781 Q96A35 RM24_HUMAN Homo sapiens mitochondrial ribosomal protein L24 (MRPL24), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 37 translation mitochondrion|ribosome structural constituent of ribosome p.P37T(1) endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTGATCCATGGGGGGTTCT 0.597 FCRL3 115352 broad.mit.edu 37 1 157660081 157660081 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:157660080_157660080GC>G uc001fqz.4 - 8 1947 c.1655_1655GC>C c.(1654-1656)gccfs p.A552fs FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Frame_Shift_Del_p.A278fs|FCRL3_uc001frb.3_Frame_Shift_Del_p.A552fs|FCRL3_uc001frc.1_Frame_Shift_Del_p.A552fs NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 552 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) ACTGTGCTGGGCCCCCAGGCC 0.468 ARHGAP30 257106 broad.mit.edu 37 1 161017718 161017719 + Frame_Shift_Ins INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:161017717_161017718T>TG uc001fxl.3 - 11 3439_3440 c.3093_3094A>CA c.(3091-3096)cccagafs p.P1031fs USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Frame_Shift_Ins_p.P820fs|ARHGAP30_uc001fxm.3_Frame_Shift_Ins_p.P877fs|ARHGAP30_uc009wtx.3_Frame_Shift_Ins_p.P704fs NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 1031 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGGGAGGTTCTGGGGATGAGGC 0.609 HMCN1 83872 broad.mit.edu 37 1 186017945 186017946 + Frame_Shift_Ins INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:186017944_186017945G>GA uc001grq.1 + 41 6779_6780 c.6550_6551G>GA c.(6550-6552)gaafs p.E2184fs NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2184 Ig-like C2-type 19. E -> EK (in Ref. 1). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGGAAAAACTGAAAAAAACTAC 0.361 NR5A2 2494 broad.mit.edu 37 1 200008890 200008891 + Frame_Shift_Ins INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:200008889_200008890T>TG uc001gvb.3 + 1 374_375 c.168_169T>TG c.(166-171)catgggfs p.H56fs NR5A2_uc001gvc.3_Intron|NR5A2_uc009wzh.3_Frame_Shift_Ins_p.H16fs|NR5A2_uc010pph.2_5'Flank|NR5A2_uc009wzg.1_Non-coding_Transcript NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 56 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CTCGATCGCATGGGGAACAGGG 0.698 RBBP5 5929 broad.mit.edu 37 1 205065950 205065950 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:205065949_205065949TG>T uc010prd.2 - 10 1643 c.1362_1362CA>A c.(1360-1362)ccafs p.P454fs RBBP5_uc010pre.2_Frame_Shift_Del_p.P292fs|RBBP5_uc001hbu.2_Frame_Shift_Del_p.P419fs|RBBP5_uc001hbv.2_Frame_Shift_Del_p.P419fs NM_005057 NP_005048 Q15291 RBBP5_HUMAN Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA. 419 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) CTGCATCCGGTGGGGGGCCGT 0.502 USH2A 7399 broad.mit.edu 37 1 215990384 215990384 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:215990383_215990383GT>G uc001hku.1 - 47 9913 c.9526_9526AC>C c.(9526-9528)cctfs p.P3176fs NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3176 Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATAGATTCAGGTTTTTGACAC 0.398 HNSCC(13;0.011) URB2 9816 broad.mit.edu 37 1 229779326 229779326 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr1:229779325_229779325TG>T uc001hts.1 + 4 3816 c.3680_3680TG>T c.(3679-3681)ttgfs p.L1227fs URB2_uc009xfd.1_Frame_Shift_Del_p.L1227fs NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 1227 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GAGCCTCATTTGGGAGCCTTG 0.453 DHX57 90957 broad.mit.edu 37 2 39082231 39082231 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:39082230_39082230AC>A uc002rrf.3 - 7 1973 c.1874_1874GT>T c.(1873-1875)gtgfs p.V625fs DHX57_uc002rrd.4_5'UTR|DHX57_uc002rre.3_Frame_Shift_Del_p.V58fs|DHX57_uc002rrg.3_Frame_Shift_Del_p.V625fs NM_198963 NP_945314 Q6P158 DHX57_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA. 625 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) CTGGTATCCCACGGTCAGACC 0.443 THADA 63892 broad.mit.edu 37 2 43799004 43799004 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:43799003_43799003TA>T uc002rsw.4 - 13 2261 c.1909_splice c.e13-1 p.V637_splice THADA_uc010far.3_5'Flank|THADA_uc002rsx.4_Splice_Site_p.V637_splice|THADA_uc002rsy.4_Splice_Site|THADA_uc010fas.1_Splice_Site|THADA_uc002rsz.3_Splice_Site_p.V347_splice|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Splice_Site_p.V347_splice|THADA_uc002rtb.1_Splice_Site_p.V637_splice|THADA_uc002rtc.4_Splice_Site_p.V637_splice|THADA_uc002rtd.3_Splice_Site_p.V637_splice NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 637 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TATCCTTACCTAAAAAACATC 0.318 LHCGR 3973 broad.mit.edu 37 2 48925846 48925846 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:48925845_48925845AT>A uc002rwu.4 - 8 845 c.775_775AT>T c.(775-777)ttgfs p.L259fs STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript NM_000233 NP_000224 P22888 LSHR_HUMAN Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA. 259 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) CTTGATGGCAATTTTTTTAGA 0.453 PCYOX1 51449 broad.mit.edu 37 2 70486622 70486622 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:70486621_70486621AG>A uc002sgn.4 + 1 308 c.242_242AG>A c.(241-243)cagfs p.Q81fs PCYOX1_uc010fdo.3_Frame_Shift_Del_p.Q4fs|PCYOX1_uc010yqu.2_Frame_Shift_Del_p.Q81fs NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA. 81 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 ATGATGGTGCAGGGGCAAGAA 0.483 AUP1 550 broad.mit.edu 37 2 74755993 74755993 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:74755992_74755992TC>T uc002smh.3 - 2 824 c.137_137GA>A c.(136-138)gagfs p.E46fs DQX1_uc010yrw.2_5'Flank|AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Frame_Shift_Del_p.E137fs|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Frame_Shift_Del_p.E194fs|AUP1_uc021vjm.1_Frame_Shift_Del_p.E46fs|AUP1_uc010yry.2_3'UTR|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc010ffl.3_5'Flank Q9Y679 AUP1_HUMAN Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA. 203 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 CTCCACCAACTCCCCCCGCCC 0.582 FER1L5 90342 broad.mit.edu 37 2 97369018 97369020 + In_Frame_Del DEL AAG AAG - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:97369017_97369019TAAG>T uc010fia.3 + 48 5733_5735 c.5733_5735TAAG>T c.(5731-5736)tttaag>ttTg p.K1914del FER1L5_uc002sws.4_In_Frame_Del_p.K623del|FER1L5_uc010yus.2_In_Frame_Del_p.K622del NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA. 1914 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 TCTCCCTCTTTAAGAAGAAGACT 0.576 MCM6 4175 broad.mit.edu 37 2 136624231 136624231 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:136624230_136624230TA>T uc002tuw.3 - 4 760 c.684_684TA>A c.(682-684)ttafs p.L228fs NM_005915 NP_005906 Q14566 MCM6_HUMAN Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA. 228 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) CTTCAGCCCTTAAAATTACTT 0.478 SCN9A 6335 broad.mit.edu 37 2 167055359 167055359 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:167055358_167055358CT>C uc010fpl.3 - 26 6099 c.5758_5758AG>G c.(5758-5760)gatfs p.D1920fs BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1931 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AAAGCCATATCTTTTTTATTG 0.353 DYNC1I2 1781 broad.mit.edu 37 2 172563057 172563058 + Splice_Site INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:172563056_172563057G>GT uc002uha.1 + 4 392 c.227_splice c.e4-1 p.V76_splice DYNC1I2_uc002uhb.1_Intron|DYNC1I2_uc010zds.1_Intron|DYNC1I2_uc002uhc.3_Intron|DYNC1I2_uc002uhd.1_Intron|DYNC1I2_uc002uhe.1_Splice_Site_p.V76_splice|DYNC1I2_uc002uhf.1_Intron|DYNC1I2_uc010zdt.1_Intron|DYNC1I2_uc002uhg.1_5'Flank NM_001378 NP_001369 Q13409 DC1I2_HUMAN Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA. 76 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) GTACACTTCAGTTTTTTCTGAA 0.332 TTN 7273 broad.mit.edu 37 2 179489284 179489285 + Frame_Shift_Ins INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:179489283_179489284T>TG uc021vsy.1 - 190 37244_37245 c.37019_37020A>CA c.(37018-37020)aaafs p.K12340fs MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Ins_p.K6035fs|TTN_uc021vta.1_Frame_Shift_Ins_p.K5968fs|TTN_uc021vtb.1_Frame_Shift_Ins_p.K5843fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13267 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTATAACAAGTTTTCTGACCCT 0.381 ITGAV 3685 broad.mit.edu 37 2 187521085 187521085 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:187521084_187521084AG>A uc002upq.3 + 16 1951 c.1675_1675AG>A c.(1675-1677)aggfs p.R559fs ITGAV_uc010frs.3_Frame_Shift_Del_p.R523fs|ITGAV_uc010zfv.2_Frame_Shift_Del_p.R513fs NM_002210 NP_002201 P06756 ITAV_HUMAN Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA. 559 ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACT 0.428 MOGAT1 116255 broad.mit.edu 37 2 223559161 223559161 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr2:223559160_223559160TG>T uc010fws.1 + 3 606 c.558_558TG>T c.(556-558)cttfs p.L186fs MOGAT1_uc010fwt.1_Frame_Shift_Del_p.L146fs NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA. 186 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) TCATTGTCCTTGGGGGTGCAA 0.443 GRM7 2917 broad.mit.edu 37 3 7456819 7456819 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:7456818_7456818CA>C uc003bqm.2 + 4 1416 c.1142_1142CA>C c.(1141-1143)tcafs p.S381fs GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bql.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 381 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding p.S381T(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ATTAGTGGGTCAAAAAAAGAA 0.423 TTLL3 26140 broad.mit.edu 37 3 9876804 9876804 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:9876803_9876803GC>G uc003btg.3 + 12 2425 c.1949_1949GC>G c.(1948-1950)ggcfs p.G650fs TTLL3_uc003btd.4_3'UTR|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_3'UTR|TTLL3_uc003bth.4_3'UTR|TTLL3_uc011atj.2_3'UTR|TTLL3_uc003btj.4_3'UTR|TTLL3_uc003bti.4_3'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA. 650 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TGCCTCCGAGGCCCCCAGCTG 0.577 PPARG 5468 broad.mit.edu 37 3 12434182 12434182 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:12434181_12434181CA>C uc003bwx.3 + 3 640 c.549_549CA>C c.(547-549)cacfs p.H183fs PPARG_uc003bwr.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bws.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwu.3_Frame_Shift_Del_p.H155fs|PPARG_uc003bwv.3_Frame_Shift_Del_p.H155fs|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Frame_Shift_Del_p.H155fs|PPARG_uc003bww.1_Frame_Shift_Del_p.H183fs NM_015869 NP_619726 P37231 PPARG_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA. 183 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) GTCGGATCCACAAAAAAAGTA 0.363 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" TBC1D5 9779 broad.mit.edu 37 3 17255753 17255753 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:17255752_17255752TA>T uc010hev.3 - 19 2029 c.1765_1765TA>A c.(1765-1767)agcfs p.S589fs TBC1D5_uc010heu.3_Frame_Shift_Del_p.S154fs|TBC1D5_uc003cbf.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc003cbe.3_Frame_Shift_Del_p.S567fs|TBC1D5_uc010hew.1_Frame_Shift_Del_p.S541fs NM_001134381 NP_001127853 Q92609 TBCD5_HUMAN Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA. 567 intracellular Rab GTPase activator activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 GAGATGTTGCTAAAAAAGGAA 0.393 LRRFIP2 9209 broad.mit.edu 37 3 37114286 37114287 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:37114285_37114286A>AT uc003cgp.2 - 21 1882_1883 c.1459_1460T>AT c.(1459-1461)attfs p.I487fs LRRFIP2_uc011ayf.1_Frame_Shift_Ins_p.I303fs|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA. 487 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 TCATACCCCAATTTTTTTATCT 0.396 MYRIP 25924 broad.mit.edu 37 3 40085641 40085641 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:40085640_40085640CT>C uc003cka.3 + 2 345 c.210_210CT>C c.(208-210)cccfs p.P70fs MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Frame_Shift_Del_p.P70fs|MYRIP_uc010hhw.3_Frame_Shift_Del_p.P27fs|MYRIP_uc010hhx.1_Frame_Shift_Del_p.P70fs NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 70 RabBD. intracellular protein transport actin binding|zinc ion binding p.S69S(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GCTGCTCGCCCTTCACCTTCC 0.557 TREX1 11277 broad.mit.edu 37 3 48508192 48508192 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:48508191_48508191GC>G uc003ctj.3 + 1 1559 c.302_302GC>G c.(301-303)agcfs p.S101fs TREX1_uc010hjy.3_Frame_Shift_Del_p.S46fs|TREX1_uc010hjz.3_Frame_Shift_Del_p.S46fs|TREX1_uc003ctk.3_5'UTR|TREX1_uc010hka.3_Frame_Shift_Del_p.S101fs NM_033629 NP_338599 Q9NSU2 TREX1_HUMAN Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA. 101 DNA recombination|DNA replication|cell death|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GCCCTGGAGAGCCCCCCCACC 0.642 CELSR3 1951 broad.mit.edu 37 3 48699181 48699181 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:48699180_48699180CG>C uc003cuf.1 - 2 1098 c.1098_1098CG>G c.(1096-1098)ccgfs p.P366fs CELSR3_uc003cul.3_Frame_Shift_Del_p.P296fs NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 296 Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCGGGAGTCCCGGGGGACGCG 0.716 VPRBP 9730 broad.mit.edu 37 3 51457615 51457615 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:51457614_51457614TG>T uc003dbe.2 - 13 2836 c.2651_2651CA>A c.(2650-2652)cagfs p.Q884fs VPRBP_uc021wys.1_Frame_Shift_Del_p.Q883fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q213fs NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA. 937 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TAGCGGACCCTGGGGGGGCCG 0.592 LRIG1 26018 broad.mit.edu 37 3 66434513 66434513 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:66434512_66434512GA>G uc003dmx.3 - 13 1988 c.1974_1974TC>C c.(1972-1974)ttcfs p.F658fs SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Frame_Shift_Del_p.F278fs|LRIG1_uc003dmw.3_Frame_Shift_Del_p.F324fs|LRIG1_uc010hnz.3_Frame_Shift_Del_p.F374fs|LRIG1_uc010hoa.3_Intron NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA. 658 Ig-like C2-type 2. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CATCAGTGATGAAAAACACGT 0.527 DCBLD2 131566 broad.mit.edu 37 3 98538128 98538129 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:98538127_98538128G>GT uc003dte.3 - 7 1368_1369 c.1005_1006C>AC c.(1003-1008)aaacctfs p.K335fs DCBLD2_uc003dtd.3_Frame_Shift_Ins_p.K335fs NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA. 335 F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 GGCGGTCCAGGTTTTTTCAGCC 0.426 CCDC80 151887 broad.mit.edu 37 3 112357154 112357154 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:112357153_112357153CT>C uc003dzf.3 - 1 1818 c.1600_1600AG>G c.(1600-1602)gcafs p.A534fs CCDC80_uc011bhv.2_Frame_Shift_Del_p.A534fs|CCDC80_uc003dzg.3_Frame_Shift_Del_p.A534fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.A534fs NM_199512 NP_955806 Q76M96 CCD80_HUMAN Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA. 534 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GACTCCTTTGCTTTTTTAAGG 0.423 PLXNA1 5361 broad.mit.edu 37 3 126735391 126735391 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:126735390_126735390AC>A uc003ejg.3 + 14 3045 c.3045_3045AC>A c.(3043-3045)acafs p.T1015fs NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 1015 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GGTGCCTGACACCCCCCGGGC 0.622 RASA2 5922 broad.mit.edu 37 3 141327450 141327450 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:141327449_141327449GT>G uc010huq.1 + 21 2147 c.2147_2147GT>G c.(2146-2148)agtfs p.S716fs RASA2_uc003etz.1_Frame_Shift_Del_p.S712fs|RASA2_uc003eua.1_Frame_Shift_Del_p.S713fs NM_006506 NP_006497 Q15283 RASA2_HUMAN Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA. 712 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm Ras GTPase activator activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 AACAGGCTCAGTTTTTATCAT 0.463 XRN1 54464 broad.mit.edu 37 3 142122607 142122608 + Frame_Shift_Ins INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:142122606_142122607C>CA uc003eus.3 - 17 2079_2080 c.2012_2013G>TG c.(2011-2013)ttgfs p.L671fs XRN1_uc010huu.3_Frame_Shift_Ins_p.L137fs|XRN1_uc003eut.3_Frame_Shift_Ins_p.L671fs|XRN1_uc003euu.3_Frame_Shift_Ins_p.L671fs|XRN1_uc003euv.1_Frame_Shift_Ins_p.L532fs NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA. 671 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|RNA binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CACTTTTCTTCAAAAAAAACTT 0.292 ATR 545 broad.mit.edu 37 3 142278199 142278199 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:142278198_142278198CT>C uc003eux.4 - 6 1749 c.1627_1627AG>G c.(1627-1629)gtgfs p.V543fs NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 543 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CTCTTAAGCACTTTTGTGTAA 0.363 Other conserved DNA damage response genes PHC3 80012 broad.mit.edu 37 3 169890471 169890471 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:169890470_169890470TG>T uc003fgl.2 - 2 245 c.211_211CA>A c.(211-213)agcfs p.S71fs PHC3_uc010hws.1_Frame_Shift_Del_p.S59fs|PHC3_uc011bpq.1_Frame_Shift_Del_p.S71fs|PHC3_uc011bpr.1_Frame_Shift_Del_p.S71fs|PHC3_uc003fgm.2_Frame_Shift_Del_p.S71fs|PHC3_uc003fgo.1_Frame_Shift_Del_p.S55fs|PHC3_uc003fgp.3_Frame_Shift_Del_p.S67fs|PHC3_uc003fgq.3_Frame_Shift_Del_p.S71fs NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA. 59 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCAGCTGAGCTGGGGGGCCGA 0.443 SKIL 6498 broad.mit.edu 37 3 170102467 170102468 + Frame_Shift_Ins INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:170102466_170102467C>CA uc003fgu.3 + 3 2054_2055 c.1342_1343C>CA c.(1342-1344)caafs p.Q448fs SKIL_uc011bps.2_Frame_Shift_Ins_p.Q428fs|SKIL_uc003fgv.3_Intron|SKIL_uc003fgw.3_Frame_Shift_Ins_p.Q448fs NM_005414 NP_005405 P12757 SKIL_HUMAN Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA. 448 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development PML body|cytoplasm SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGGTAAACTTCAAAAAACAGTG 0.391 MFN1 55669 broad.mit.edu 37 3 179069813 179069813 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr3:179069812_179069812AT>A uc003fjt.3 + 1 328 c.321_321AT>A c.(319-321)gcafs p.A107fs MFN1_uc003fjs.3_Frame_Shift_Del_p.A79fs|MFN1_uc010hxb.3_Non-coding_Transcript NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA. 79 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity p.G106G(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TGAAGGTGGCATTTTTTGGCA 0.383 SPON2 10417 broad.mit.edu 37 4 1165663 1165664 + Frame_Shift_Ins INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:1165662_1165663A>AG uc003gco.4 - 1 526_527 c.197_198T>CT c.(196-198)cctfs p.P66fs SPON2_uc021xkj.1_Frame_Shift_Ins_p.P66fs|SPON2_uc010ibr.3_Frame_Shift_Ins_p.P66fs|SPON2_uc003gcm.1_5'Flank NM_012445 NP_036577 Q9BUD6 SPON2_HUMAN Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA. 66 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) ACCACTGCGCAGGGGGGCGGAA 0.678 TMEM165 55858 broad.mit.edu 37 4 56277913 56277913 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:56277912_56277912AT>A uc003hax.2 + 1 606 c.339_339AT>A c.(337-339)acafs p.T113fs TMEM165_uc011bzy.1_Frame_Shift_Del_p.T50fs NM_018475 NP_060945 Q9HC07 TM165_HUMAN Homo sapiens transmembrane protein 165 (TMEM165), mRNA. 113 integral to membrane endometrium(1)|kidney(1)|large_intestine(2) 4 Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103) GTGATAAGACATTTTTTATAG 0.433 ADAMTS3 9508 broad.mit.edu 37 4 73184391 73184391 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:73184390_73184390CA>C uc003hgk.2 - 9 1421 c.1384_1384TG>G c.(1384-1386)gatfs p.D462fs NM_014243 NP_055058 O15072 ATS3_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA. 462 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CAATCATGATCAAAAGGGTCA 0.353 DMP1 1758 broad.mit.edu 37 4 88583610 88583611 + Frame_Shift_Ins INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:88583609_88583610A>AG uc003hqv.3 + 5 783_784 c.679_680A>AG c.(679-681)aggfs p.R227fs DMP1_uc003hqw.3_Frame_Shift_Ins_p.R211fs NM_004407 NP_004398 Q13316 DMP1_HUMAN Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA. 227 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) CAGGAGTGAAAGGGGAAACTCC 0.520 CFI 3426 broad.mit.edu 37 4 110662150 110662151 + Frame_Shift_Del DEL CA CA - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr4:110662149_110662150CCA>C uc011cft.2 - 13 1883_1884 c.1675_1676TGG>G c.(1675-1677)ggafs p.G559fs CFI_uc003hzq.3_Frame_Shift_Del_p.G348fs|CFI_uc003hzr.4_Frame_Shift_Del_p.G551fs NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 551 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CTCTGGTTTTCCACAGTTTTCC 0.450 FASTKD3 79072 broad.mit.edu 37 5 7863113 7863113 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:7863112_7863112TA>T uc003jeb.3 - 4 1697 c.1525_splice c.e4-1 p.G509_splice FASTKD3_uc011cmp.2_Splice_Site_p.G211_splice|FASTKD3_uc003jec.3_Splice_Site NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA. 509 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TTTTGGACCCTAAAAAATCAT 0.343 DNAH5 1767 broad.mit.edu 37 5 13841161 13841161 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:13841160_13841160AT>A uc003jfd.2 - 33 5606 c.5564_5564AT>T c.(5563-5565)atcfs p.I1855fs NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1855 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I1855M(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTCTGCATGATTTTTTTATC 0.398 Kartagener syndrome NUP155 9631 broad.mit.edu 37 5 37309279 37309279 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:37309278_37309278AT>A uc003jku.1 - 23 2838 c.2720_2720AT>T c.(2719-2721)attfs p.I907fs NUP155_uc003jkt.1_Frame_Shift_Del_p.I848fs|NUP155_uc010iuz.1_Frame_Shift_Del_p.I843fs NM_153485 NP_004289 O75694 NU155_HUMAN Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA. 907 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTGATTGCTAATTTTTTGATA 0.338 RICTOR 253260 broad.mit.edu 37 5 38946657 38946658 + Splice_Site INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:38946656_38946657T>TA uc003jlo.2 - 34 4409 c.4387_splice c.e34-1 p.V1463_splice RICTOR_uc003jlp.2_Splice_Site_p.V1439_splice|RICTOR_uc010ivf.2_Splice_Site_p.V1154_splice NM_152756 NP_689969 Q6R327 RICTR_HUMAN Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA. 1439 T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade TORC2 complex|cytosol protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) ATCCTTTACCTAAAAAAAGATA 0.322 DHX29 54505 broad.mit.edu 37 5 54586064 54586064 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:54586063_54586063AT>A uc003jpx.3 - 6 1010 c.890_890AT>T c.(889-891)atafs p.I297fs DHX29_uc010ivw.3_Non-coding_Transcript NM_019030 NP_061903 Q7Z478 DHX29_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA. 297 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) AAATTTCCTTATTTTTTCCTG 0.353 CHD1 1105 broad.mit.edu 37 5 98206409 98206409 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:98206408_98206408CT>C uc003knf.3 - 27 4109 c.3961_3961AG>G c.(3961-3963)gaafs p.E1321fs CHD1_uc010jbn.3_Frame_Shift_Del_p.E47fs NM_001270 NP_001261 O14646 CHD1_HUMAN Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA. 1321 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding p.E1321fs*22(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) GAAAGAGCTTCTTTTTTTGCA 0.383 EFNA5 1946 broad.mit.edu 37 5 106716966 106716966 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:106716965_106716965CA>C uc003kol.3 - 4 960 c.678_678TG>G c.(676-678)ttgfs p.L226fs NM_001962 NP_001953 P52803 EFNA5_HUMAN Homo sapiens ephrin-A5 (EFNA5), mRNA. 226 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) GCTATAATGTCAAAAGCATCG 0.522 MCC 4163 broad.mit.edu 37 5 112363035 112363037 + In_Frame_Del DEL CTC CTC - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:112363034_112363036TCTC>T uc003kql.4 - 18 3439_3441 c.3023_3025GAGA>A c.(3022-3027)gagaac>gAac p.N1009del MCC_uc003kqj.4_In_Frame_Del_p.N819del|MCC_uc003kqk.4_Non-coding_Transcript NM_001085377 NP_001078846 P23508 CRCM_HUMAN Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA. 819 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GGCCTGGAGTTCTCCTCCTCTAG 0.507 ZNF608 57507 broad.mit.edu 37 5 123984684 123984685 + Frame_Shift_Ins INS - - C rs151227213 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:123984683_123984684G>GC uc003ktq.1 - 3 1576_1577 c.1393_1394C>GC c.(1393-1395)gccfs p.A465fs ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Ins_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Ins_p.A465fs NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 465 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 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) TTTCCCATTGGCCCCCCCTCTG 0.629 PCDHB10 56126 broad.mit.edu 37 5 140572181 140572182 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:140572180_140572181C>CT uc003lix.3 + 0 229_230 c.55_56C>CT c.(55-57)cttfs p.L19fs NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 19 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTTCTTTTTCTTTTTTGGGGA 0.475 KIAA0141 9812 broad.mit.edu 37 5 141312947 141312947 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr5:141312946_141312946AC>A uc003lls.3 + 7 999 c.877_877AC>A c.(877-879)accfs p.T293fs KIAA0141_uc003llt.3_Frame_Shift_Del_p.T293fs NM_001142603 NP_055588 Q14154 DELE_HUMAN Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 293 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCAGAGGCACCCCCAGGGA 0.577 SYCP2L 221711 broad.mit.edu 37 6 10903158 10903158 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:10903157_10903157GA>G uc003mzo.3 + 7 898 c.602_602GA>G c.(601-603)agafs p.R201fs SYCP2L_uc011din.1_Frame_Shift_Del_p.R42fs|SYCP2L_uc010jow.3_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 201 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) CGAGAAGAGAGAAAAAAATTC 0.388 PHACTR1 221692 broad.mit.edu 37 6 13228109 13228109 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:13228108_13228108TG>T uc003nah.2 + 8 1420 c.1047_1047TG>T c.(1045-1047)gatfs p.D349fs PHACTR1_uc011dir.2_Frame_Shift_Del_p.D418fs|PHACTR1_uc010jpc.3_Frame_Shift_Del_p.D349fs|PHACTR1_uc003nag.2_Frame_Shift_Del_p.D349fs NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA. 349 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) ACTCGGGTGATGGGGTCACCA 0.478 MBOAT1 154141 broad.mit.edu 37 6 20151475 20151475 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:20151474_20151474CA>C uc003ncx.1 - 2 470 c.265_265TG>G c.(265-267)gtgfs p.V89fs MBOAT1_uc011dji.1_Intron NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA. 89 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) AACACCAGCACAAAAAGATGC 0.373 ZKSCAN4 387032 broad.mit.edu 37 6 28212908 28212908 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:28212907_28212907GT>G uc003nks.1 - 4 1869 c.1625_1625AC>C c.(1624-1626)actfs p.T542fs ZKSCAN4_uc011dlb.1_Frame_Shift_Del_p.T387fs NM_019110 NP_061983 Q969J2 ZKSC4_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA. 542 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CTGTGAAAGAGTTTTTTTCCC 0.443 TRIM27 5987 broad.mit.edu 37 6 28872041 28872043 + In_Frame_Del DEL AGA AGA - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:28872040_28872042TAGA>T uc003nlr.3 - 7 1706_1708 c.1347_1349TCTA>A c.(1345-1350)ttctac>ttAc p.449_450FY>L TRIM27_uc003nls.3_In_Frame_Del_p.356_357ST>Y|TRIM27_uc003nlt.1_3'UTR NM_006510 NP_006501 P14373 TRI27_HUMAN Homo sapiens tripartite motif containing 27 (TRIM27), mRNA. 449 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TGTCACGTTGTAGAAGGAGACCT 0.542 T RET papillary thyroid HLA-G 3135 broad.mit.edu 37 6 29797196 29797197 + Splice_Site INS - - C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:29797195_29797196A>AC uc003nnw.2 + 5 798 c.620_splice c.e5-1 p.D207_splice HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Splice_Site_p.D179_splice|HLA-G_uc003raj.3_Splice_Site_p.D212_splice|HLA-G_uc003nnz.3_Splice_Site_p.N115_splice|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Splice_Site|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank NM_002127 NP_002118 P17693 HLAG_HUMAN Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA. 207 Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TTCCTTTCAGACCCCCCCAAGA 0.540 STK19 8859 broad.mit.edu 37 6 31939846 31939846 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:31939845_31939845CG>C uc003nyv.3 + 0 200 c.72_72CG>C c.(70-72)ggcfs p.G24fs DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Del_p.G24fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Del_p.G24fs|STK19_uc010jtn.1_5'Flank NM_032454 NP_115830 P49842 STK19_HUMAN Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA. 24 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CCTCCCGGGGCGGGGGAGGTG 0.647 RGL2 5863 broad.mit.edu 37 6 33263528 33263528 + Frame_Shift_Del DEL A A - rs144150638 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:33263527_33263527GA>G uc003odv.3 - 6 1338 c.778_778TC>C c.(778-780)ctcfs p.L260fs RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Frame_Shift_Del_p.L178fs|RGL2_uc011drb.2_Frame_Shift_Del_p.L178fs NM_004761 NP_001230667 O15211 RGL2_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA. 260 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 ATCAAATTGAGAAAAAGTTCC 0.527 PHF1 5252 broad.mit.edu 37 6 33380026 33380026 + Splice_Site DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:33380025_33380025GC>G uc003oeh.3 + 2 221 c.-15_splice c.e2-1 PHF1_uc011drh.2_Splice_Site|PHF1_uc003oei.3_Splice_Site|PHF1_uc010jux.3_Splice_Site NM_024165 NP_077084 O43189 PHF1_HUMAN Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA. chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) TTCTGGCTAGGCCCCCCCAGG 0.537 PHF1 5252 broad.mit.edu 37 6 33383747 33383747 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:33383746_33383746TG>T uc003oeh.3 + 14 1811 c.1575_1575TG>T c.(1573-1575)actfs p.T525fs PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_3'UTR|PHF1_uc010jux.3_Frame_Shift_Del_p.T325fs NM_024165 NP_077084 O43189 PHF1_HUMAN Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA. 525 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CTCCTGGGACTGGGGGAGGAG 0.617 REV3L 5980 broad.mit.edu 37 6 111689017 111689018 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:111689016_111689017A>AT uc003puy.4 - 13 6315_6316 c.5974_5975T>AT c.(5974-5976)attfs p.I1992fs REV3L_uc003pux.4_Frame_Shift_Ins_p.I1914fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.I1914fs|REV3L_uc003pva.1_Non-coding_Transcript NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 1992 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CATAATCACAATTTTTTTATCT 0.446 DNA polymerases (catalytic subunits) MED23 9439 broad.mit.edu 37 6 131929129 131929130 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr6:131929128_131929129A>AT uc003qcs.1 - 11 1334_1335 c.1160_1161T>AT c.(1159-1161)aatfs p.N387fs MED23_uc003qcq.3_Frame_Shift_Ins_p.N393fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Ins_p.N393fs|MED23_uc011ecb.1_Non-coding_Transcript NM_004830 NP_004821 Q9ULK4 MED23_HUMAN Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA. 387 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity p.K386fs*6(2)|p.K392fs*6(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CAGCTAGTGCATTTTTCTGAAT 0.376 HOXA2 3199 broad.mit.edu 37 7 27140704 27140705 + Frame_Shift_Del DEL GA GA - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:27140703_27140704TGA>T uc003syh.3 - 1 1047_1048 c.772_773TCA>A c.(772-774)cagfs p.Q258fs HOXA2_uc022aaq.1_3'UTR NM_006735 NP_006726 O43364 HXA2_HUMAN Homo sapiens homeobox A2 (HOXA2), mRNA. 258 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 AGCCTGCTGCTGAGAGAGGGCA 0.515 PDE1C 5137 broad.mit.edu 37 7 32209466 32209467 + Frame_Shift_Ins INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:32209465_32209466T>TG uc003tco.2 - 2 275_276 c.239_240A>CA c.(238-240)ccafs p.P80fs NM_001191058 NP_001177987 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA. 0 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GGATCTCCTCTGGGGGTCGAGG 0.500 PKD1L1 168507 broad.mit.edu 37 7 47925401 47925401 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:47925400_47925400TC>T uc003tny.2 - 17 3123 c.3089_3089GA>A c.(3088-3090)gagfs p.E1030fs NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1030 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CTCTGGAGCCTCCCCCAGGAC 0.617 DDC 1644 broad.mit.edu 37 7 50531075 50531075 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:50531074_50531074AT>A uc003tpg.4 - 13 1499 c.1298_1298AT>T c.(1297-1299)atcfs p.I433fs DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs NM_001082971 NP_001076440 P20711 DDC_HUMAN Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA. 433 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) AACCAAGTGGATTTTTTTGGC 0.507 ZNF117 51351 broad.mit.edu 37 7 64438973 64438973 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:64438972_64438972AT>A uc003ttr.2 - 3 2262 c.977_977AT>T c.(976-978)attfs p.I326fs NM_015852 NP_056936 Q03924 ZN117_HUMAN Homo sapiens zinc finger protein 117 (ZNF117), mRNA. 326 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) TCCAGTATGAATTTTTTTATG 0.348 AUTS2 26053 broad.mit.edu 37 7 70254882 70254883 + Frame_Shift_Del DEL GA GA - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:70254881_70254882GGA>G uc003tvw.4 + 18 3414_3415 c.2679_2680GGA>G c.(2677-2682)agggagfs p.R893fs AUTS2_uc003tvx.4_Frame_Shift_Del_p.R869fs|AUTS2_uc011keg.2_Frame_Shift_Del_p.R345fs NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA. 893 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCAAAGAGAGGGAGAGAGACCA 0.639 PCLO 27445 broad.mit.edu 37 7 82595385 82595385 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:82595384_82595384CT>C uc003uhx.2 - 3 4009 c.3720_3720AG>G c.(3718-3720)aagfs p.K1240fs PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1179 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGGGGTTGGCTTTTTTTCTT 0.383 SAMD9 54809 broad.mit.edu 37 7 92730766 92730766 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:92730765_92730765AT>A uc003umf.3 - 2 4916 c.4646_4646AT>T c.(4645-4647)atcfs p.I1549fs SAMD9_uc003umg.3_Frame_Shift_Del_p.I1549fs|SAMD9_uc022ahg.1_Frame_Shift_Del_p.I1549fs NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1549 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GGGTATTGTGATTTTTTCATT 0.388 CBLL1 79872 broad.mit.edu 37 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:107395908_107395908GA>G uc003veq.3 + 4 742 c.412_412GA>G c.(412-414)gaafs p.E138fs CBLL1_uc011kme.2_Frame_Shift_Del_p.E17fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.E137fs NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA. 138 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 TATTTTACATGAAAAAAAGGG 0.264 LAMB1 3912 broad.mit.edu 37 7 107564774 107564774 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:107564773_107564773GT>G uc003vev.2 - 30 5359 c.5198_5198AC>C c.(5197-5199)actfs p.T1733fs LAMB1_uc003vew.2_Frame_Shift_Del_p.T1709fs NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 1709 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGACTCTTCAGTTTTTTTGGC 0.348 FAM3C 10447 broad.mit.edu 37 7 121023067 121023067 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:121023066_121023066TA>T uc003vjx.3 - 2 208 c.-40_splice c.e2-1 FAM3C_uc010lkm.3_Splice_Site NM_014888 NP_055703 Q92520 FAM3C_HUMAN Homo sapiens family with sequence similarity 3, member C (FAM3C), transcript variant 1, mRNA. multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) AATATGCTCCTAAAAAATCAA 0.299 SPAM1 6677 broad.mit.edu 37 7 123599661 123599661 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:123599660_123599660GA>G uc003vle.3 + 4 1606 c.1167_1167GA>G c.(1165-1167)aggfs p.R389fs SPAM1_uc011koa.1_Frame_Shift_Del_p.R45fs|SPAM1_uc003vld.3_Frame_Shift_Del_p.R389fs|SPAM1_uc022aks.1_Frame_Shift_Del_p.R389fs|SPAM1_uc003vlf.4_Frame_Shift_Del_p.R389fs|SPAM1_uc010lku.3_Frame_Shift_Del_p.R389fs NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 389 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TGTGTATAAGGAAAAACTGGA 0.408 GPR37 2861 broad.mit.edu 37 7 124404490 124404490 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:124404489_124404489TA>T uc003vli.3 - 0 1193 c.542_542TA>A c.(541-543)tacfs p.Y181fs NM_005302 NP_005293 O15354 GPR37_HUMAN Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA. 181 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CCTTGGCCAGTAAAAAAGATC 0.602 ZNF800 168850 broad.mit.edu 37 7 127014068 127014068 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:127014067_127014067CT>C uc010lla.2 - 4 2035 c.1323_1323AG>G c.(1321-1323)aagfs p.K441fs ZNF800_uc003vlw.1_Frame_Shift_Del_p.K344fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K441fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K441fs NM_176814 NP_789784 Q2TB10 ZN800_HUMAN Homo sapiens zinc finger protein 800 (ZNF800), mRNA. 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 CCGGTGTGTTCTTTTTTTCAT 0.403 CLCN1 1180 broad.mit.edu 37 7 143013437 143013437 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:143013436_143013436AC>A uc003wcr.1 + 0 218 c.131_131AC>A c.(130-132)cacfs p.H44fs CLCN1_uc011ktc.1_5'UTR NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 44 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GGCCTCCAGCACAGGCTCCGG 0.602 ABP1 26 broad.mit.edu 37 7 150554121 150554121 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:150554120_150554120GC>G uc003why.1 + 2 4780 c.562_562GC>G c.(562-564)gccfs p.A188fs ABP1_uc003whz.1_Frame_Shift_Del_p.A188fs|ABP1_uc003wia.1_Frame_Shift_Del_p.A188fs NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 188 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CACCGATGTGGCCCCCCGGGG 0.587 NCAPG2 54892 broad.mit.edu 37 7 158445158 158445158 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr7:158445157_158445157TA>T uc011kwe.1 - 22 2907 c.2762_2762TA>A c.(2761-2763)tatfs p.Y921fs NCAPG2_uc010lqu.1_Frame_Shift_Del_p.Y713fs|NCAPG2_uc003wnx.1_Frame_Shift_Del_p.Y921fs|NCAPG2_uc003wnv.1_Frame_Shift_Del_p.Y921fs|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Frame_Shift_Del_p.Y422fs|NCAPG2_uc011kwd.1_Frame_Shift_Del_p.Y364fs NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA. 921 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TAATGAAACATAAAAAAATCC 0.318 ZNF596 169270 broad.mit.edu 37 8 196342 196342 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:196341_196341TA>T uc003wot.3 + 5 1782 c.1494_1494TA>T c.(1492-1494)actfs p.T498fs ZNF596_uc003wou.3_Frame_Shift_Del_p.T397fs|ZNF596_uc003wov.3_Frame_Shift_Del_p.T498fs|ZNF596_uc003wow.3_Frame_Shift_Del_p.T498fs NM_173539 NP_775810 Q8TC21 ZN596_HUMAN Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA. 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5) 14 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) GAACTCACACTAAAAAAGCAA 0.348 WHSC1L1 54904 broad.mit.edu 37 8 38178634 38178635 + Frame_Shift_Del DEL TC TC - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:38178633_38178634TTC>T uc003xli.3 - 7 2283_2284 c.1765_1766GAA>A c.(1765-1767)aaafs p.K589fs WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.K589fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.K589fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.K589fs NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 589 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CTCAGTGGATTTCTCTGATTCA 0.361 T NUP98 AML WHSC1L1 54904 broad.mit.edu 37 8 38187222 38187222 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:38187221_38187221GT>G uc003xli.3 - 5 1774 c.1256_1256AC>C c.(1255-1257)accfs p.T419fs WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.T419fs NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 419 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGGTCGTCGGGTTTTTTTAAC 0.433 T NUP98 AML AP3M2 10947 broad.mit.edu 37 8 42012427 42012427 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:42012426_42012426TC>T uc003xop.3 + 2 512 c.221_221TC>T c.(220-222)gtcfs p.V74fs AP3M2_uc003xoo.3_Frame_Shift_Del_p.V74fs|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_5'UTR NM_001134296 NP_006794 P53677 AP3M2_HUMAN Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA. 74 intracellular protein transport|vesicle-mediated transport Golgi apparatus|clathrin adaptor complex endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) CAGACGGAGGTCCCCCCTCTG 0.468 PDE7A 5150 broad.mit.edu 37 8 66635840 66635840 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:66635839_66635839AT>A uc003xvq.3 - 11 1406 c.1180_1180AT>T c.(1180-1182)tatfs p.Y394fs PDE7A_uc003xvr.3_Frame_Shift_Del_p.Y394fs|PDE7A_uc003xvp.3_Frame_Shift_Del_p.Y368fs NM_001242318 NP_001229247 Q13946 PDE7A_HUMAN Homo sapiens phosphodiesterase 7A (PDE7A), transcript variant 3, mRNA. 394 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) CCCAAATGATATTTTTTTTCT 0.294 INTS8 55656 broad.mit.edu 37 8 95853732 95853733 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:95853731_95853732A>AT uc003yhb.3 + 8 1156_1157 c.1030_1031A>AT c.(1030-1032)attfs p.I344fs INTS8_uc003yha.1_Frame_Shift_Ins_p.I344fs|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Frame_Shift_Ins_p.I171fs NM_017864 NP_060334 Q75QN2 INT8_HUMAN Homo sapiens integrator complex subunit 8 (INTS8), mRNA. 344 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) GGTAATACAGATTTTCATTGAA 0.347 FBXO43 286151 broad.mit.edu 37 8 101154105 101154105 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:101154104_101154104CT>C uc003yjd.3 - 1 1114 c.378_378AG>G c.(376-378)aagfs p.K126fs FBXO43_uc003yje.3_Frame_Shift_Del_p.K92fs|FBXO43_uc010mbp.2_Frame_Shift_Del_p.K126fs NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA. 126 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) AGATACATTTCTTTTTTTGAG 0.393 ASAP1 50807 broad.mit.edu 37 8 131149216 131149217 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:131149215_131149216A>AT uc003yta.2 - 13 1377_1378 c.1149_1150T>AT c.(1147-1152)aaatctfs p.K383fs ASAP1_uc003ysz.2_Frame_Shift_Ins_p.K194fs|ASAP1_uc011liw.2_Frame_Shift_Ins_p.K376fs NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA. 383 PH. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 AGGTCAAAAGATTTTTTGTCTT 0.421 HSF1 3297 broad.mit.edu 37 8 145537675 145537675 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr8:145537674_145537674GC>G uc003zbt.4 + 11 1511 c.1341_1341GC>G c.(1339-1341)gagfs p.E447fs HSF1_uc003zbu.4_Non-coding_Transcript NM_005526 NP_005517 Q00613 HSF1_HUMAN Homo sapiens heat shock transcription factor 1 (HSF1), mRNA. 447 Transactivation domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) CTCCCCAGGAGCCCCCCAGGC 0.682 ZNF883 169834 broad.mit.edu 37 9 115759723 115759723 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:115759722_115759722GT>G uc011lwy.2 - 4 2057 c.818_818AC>C c.(817-819)accfs p.T273fs NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN Homo sapiens zinc finger protein 883 (ZNF883), mRNA. 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TCGACTGAAGGTTTTTCCACA 0.383 RABGAP1 23637 broad.mit.edu 37 9 125861042 125861042 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:125861041_125861041TA>T uc011lzh.2 + 22 2915 c.2781_2781TA>T c.(2779-2781)attfs p.I927fs RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA. 927 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AATCTGAGATTAAAAAAAACA 0.398 TTF1 7270 broad.mit.edu 37 9 135277373 135277373 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:135277372_135277372CT>C uc004cbl.3 - 1 906 c.837_837AG>G c.(835-837)aagfs p.K279fs TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript NM_007344 NP_031370 Q15361 TTF1_HUMAN Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA. 279 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ACTTTTTCTTCTTTTTTTTCT 0.478 PNPLA7 375775 broad.mit.edu 37 9 140356679 140356679 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr9:140356678_140356678TG>T uc010ncj.1 - 30 3935 c.3598_3598CA>A c.(3598-3600)atcfs p.I1200fs PNPLA7_uc004cnd.1_Frame_Shift_Del_p.I422fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.I441fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.I583fs|PNPLA7_uc004cnf.2_Frame_Shift_Del_p.I1175fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank NM_001098537 NP_001092007 Q6ZV29 PLPL7_HUMAN Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA. 1175 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TAGCTGTCGATGGGGGGGCGC 0.652 PFKFB3 5209 broad.mit.edu 37 10 6262793 6262793 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:6262792_6262792CG>C uc001ije.3 + 7 1179 c.795_795CG>C c.(793-795)atcfs p.I265fs PFKFB3_uc001ijd.3_Frame_Shift_Del_p.I245fs|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Frame_Shift_Del_p.I279fs|PFKFB3_uc001ijf.3_Frame_Shift_Del_p.I265fs NM_004566 NP_004557 Q16875 F263_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA. 265 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 AGGGCCGCATCGGGGGCGACT 0.652 MCM10 55388 broad.mit.edu 37 10 13239741 13239741 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:13239740_13239740GA>G uc001ima.3 + 14 2223 c.2095_2095GA>G c.(2095-2097)gaafs p.E699fs MCM10_uc001imb.3_Frame_Shift_Del_p.E698fs|MCM10_uc001imc.3_Frame_Shift_Del_p.E698fs NM_182751 NP_877428 Q7L590 MCM10_HUMAN Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA. 699 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 GGAACGTGTAGAAAAAAACAC 0.398 SLC39A12 221074 broad.mit.edu 37 10 18254554 18254555 + Frame_Shift_Ins INS - - C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:18254553_18254554T>TC uc001ipo.2 + 3 958_959 c.685_686T>TC c.(685-687)tccfs p.S229fs SLC39A12_uc001ipn.2_Frame_Shift_Ins_p.S229fs|SLC39A12_uc001ipp.2_Frame_Shift_Ins_p.S229fs|SLC39A12_uc010qck.1_Frame_Shift_Ins_p.S95fs NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA. 229 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AAACTTGCCTTCCCCAGACTAC 0.441 PIP4K2A 5305 broad.mit.edu 37 10 22830828 22830828 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:22830827_22830827TG>T uc001irl.4 - 7 1190 c.942_942CA>A c.(940-942)ccafs p.P314fs PIP4K2A_uc010qcu.2_Frame_Shift_Del_p.P174fs NM_005028 NP_005019 P48426 PI42A_HUMAN Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA. 314 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 CGGGGCTATCTGGGGGGGTTC 0.582 ANKRD26 22852 broad.mit.edu 37 10 27332489 27332489 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:27332488_27332488GT>G uc009xku.1 - 19 2200 c.2028_2028AC>C c.(2026-2028)aacfs p.N676fs ANKRD26_uc001itg.2_Frame_Shift_Del_p.N362fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.N675fs NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA. 675 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 ACTGTATTTGGTTTTTGACCT 0.343 ZNF248 57209 broad.mit.edu 37 10 38121115 38121117 + In_Frame_Del DEL AGA AGA - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:38121114_38121116CAGA>C uc001izd.1 - 5 1666_1668 c.1167_1169TCTG>G c.(1165-1170)ttctgg>ttGg p.389_390FW>L ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_In_Frame_Del_p.389_390FW>L NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN Homo sapiens zinc finger protein 248 (ZNF248), mRNA. 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TGACTTCTCCCAGAAGGTTTTCC 0.448 ZNF22 7570 broad.mit.edu 37 10 45499436 45499439 + Frame_Shift_Del DEL ACTT ACTT - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:45499435_45499438CACTT>C uc001jbw.3 + 1 862_865 c.619_622CACTT>C c.(619-624)cacttafs p.H207fs C10orf25_uc001jbv.2_5'Flank|ZNF22_uc001jbx.1_Non-coding_Transcript|ZNF22_uc021ppo.1_Frame_Shift_Del_p.H207fs NM_006963 NP_008894 P17026 ZNF22_HUMAN Homo sapiens zinc finger protein 22 (KOX 15) (ZNF22), mRNA. 207 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) GGTGAAGACTCACTTACCCTCTTG 0.441 ARID5B 84159 broad.mit.edu 37 10 63850705 63850705 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:63850704_63850704GA>G uc001jlt.2 + 9 1938 c.1482_1482GA>G c.(1480-1482)aagfs p.K494fs ARID5B_uc001jlu.2_Frame_Shift_Del_p.K251fs NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 494 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CAGACATGAAGAAAAAAATAG 0.438 PTEN 5728 broad.mit.edu 37 10 89720812 89720813 + Frame_Shift_Ins INS - - A rs121913291 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:89720811_89720812C>CA uc001kfb.3 + 7 1994_1995 c.962_963C>CA c.(961-963)acafs p.T321fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 321 C2 tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.T321fs*23(19)|p.T321fs*3(15)|p.R55fs*1(5)|p.L320*(3)|p.T319_K332del(2)|p.T321fs*22(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T321fs*6(2)|p.N323fs*2(2)|p.G165_*404del(1)|p.L320V(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T321fs*4(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CTTACTTTAACAAAAAATGATC 0.327 N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) TACC2 10579 broad.mit.edu 37 10 123844356 123844356 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:123844355_123844355TC>T uc001lfv.3 + 3 2700 c.2340_2340TC>T c.(2338-2340)catfs p.H780fs TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Frame_Shift_Del_p.H780fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.H780fs NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 780 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGGTGCCACATCCCCCCCAGG 0.642 PWWP2B 170394 broad.mit.edu 37 10 134218255 134218255 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr10:134218254_134218254TC>T uc001lll.4 + 1 279 c.250_250TC>T c.(250-252)tccfs p.S84fs PWWP2B_uc009ybe.3_Frame_Shift_Del_p.S84fs NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA. 84 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GGGGTCCAGCTCCCCCCCTCC 0.746 OSBPL5 114879 broad.mit.edu 37 11 3115052 3115052 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:3115051_3115051AC>A uc001lxk.2 - 15 1892 c.1734_1734GT>T c.(1732-1734)ggtfs p.G578fs OSBPL5_uc010qxq.1_Frame_Shift_Del_p.G489fs|OSBPL5_uc009ydw.2_Frame_Shift_Del_p.G510fs|OSBPL5_uc001lxl.2_Frame_Shift_Del_p.G510fs|OSBPL5_uc009ydx.3_Frame_Shift_Del_p.G602fs|OSBPL5_uc001lxj.2_Frame_Shift_Del_p.G32fs NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA. 578 Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGCTGGTGCTACCCCCGAAGA 0.637 NLRP14 338323 broad.mit.edu 37 11 7063895 7063895 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:7063894_7063894GT>G uc001mfb.1 + 3 960 c.637_637GT>G c.(637-639)gttfs p.V213fs NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 213 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTTTAAGTATGTTTTTTATCT 0.463 DCDC1 341019 broad.mit.edu 37 11 31327168 31327168 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:31327167_31327167AT>A uc001msv.3 - 5 987 c.749_749AT>T c.(748-750)attfs p.I250fs DCDC5_uc001msu.2_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA. 250 Doublecortin. intracellular signal transduction p.K249E(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TTTACCTTTAATTTTTTTGAA 0.383 ALX4 60529 broad.mit.edu 37 11 44286624 44286624 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:44286623_44286623AG>A uc001myb.3 - 3 1121 c.1017_1017CT>T c.(1015-1017)cctfs p.P339fs NM_021926 NP_068745 Q9H161 ALX4_HUMAN Homo sapiens ALX homeobox 4 (ALX4), mRNA. 339 hair follicle development p.P338L(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 CCCCAGAGCCAGGGGGGTGGG 0.692 INTS4 92105 broad.mit.edu 37 11 77672098 77672098 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:77672097_77672097CT>C uc001oys.3 - 4 587 c.559_559AG>G c.(559-561)gatfs p.D187fs INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Frame_Shift_Del_p.D187fs NM_033547 NP_291025 Q96HW7 INT4_HUMAN Homo sapiens integrator complex subunit 4 (INTS4), mRNA. 187 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CCTTCTGCATCTTTTGTGACA 0.428 MLL 4297 broad.mit.edu 37 11 118344186 118344186 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:118344185_118344185AC>A uc001pta.3 + 2 2334 c.2311_2311AC>A c.(2311-2313)accfs p.T771fs MLL_uc001ptb.3_Frame_Shift_Del_p.T771fs|MLL_uc001psz.1_Frame_Shift_Del_p.T804fs|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 771 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CTCACCTCTCACCCCCCCGTC 0.453 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" PHLDB1 23187 broad.mit.edu 37 11 118495754 118495754 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:118495753_118495753GC>G uc001ptr.2 + 5 812 c.459_459GC>G c.(457-459)gggfs p.G153fs PHLDB1_uc010ryh.1_Frame_Shift_Del_p.G153fs|PHLDB1_uc001pts.3_Frame_Shift_Del_p.G153fs|PHLDB1_uc001ptt.3_Frame_Shift_Del_p.G153fs|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA. 153 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GAGCCCCTGGGCCCCCCTACA 0.612 CDON 50937 broad.mit.edu 37 11 125875734 125875735 + Frame_Shift_Del DEL GT GT - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr11:125875733_125875734GGT>G uc009zbw.3 - 8 1899_1900 c.1771_1772ACC>C c.(1771-1773)ccafs p.P591fs CDON_uc001qdb.4_5'Flank|CDON_uc001qdc.4_Frame_Shift_Del_p.P591fs|CDON_uc001qdd.4_Non-coding_Transcript NM_001243597 NP_001230526 Q4KMG0 CDON_HUMAN Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA. 591 Fibronectin type-III 1. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GTACGTGTCTGGTGTGTGGGTC 0.535 VWF 7450 broad.mit.edu 37 12 6161823 6161823 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:6161822_6161822TG>T uc001qnn.1 - 15 2323 c.2073_2073CA>A c.(2071-2073)ccafs p.P691fs VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 691 TIL 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TGTAGAGCCCTGGGGGGCAGA 0.612 PLEKHA5 54477 broad.mit.edu 37 12 19410381 19410381 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:19410380_19410380CA>C uc001reb.3 + 5 554 c.446_446CA>C c.(445-447)tcafs p.S149fs PLEKHA5_uc010sie.2_Frame_Shift_Del_p.S149fs|PLEKHA5_uc001rea.3_Frame_Shift_Del_p.S149fs|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Frame_Shift_Del_p.S41fs|PLEKHA5_uc010sih.1_Frame_Shift_Del_p.S41fs|PLEKHA5_uc021qvy.1_Frame_Shift_Del_p.S41fs NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA. 149 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) TCACGAGCTTCAAAAAAAGTT 0.323 ZC3H10 84872 broad.mit.edu 37 12 56514991 56514992 + Frame_Shift_Ins INS - - C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:56514990_56514991G>GC uc001sjp.1 + 2 833_834 c.644_645G>GC c.(643-645)tgcfs p.C215fs ZC3H10_uc021qyw.1_Frame_Shift_Ins_p.C215fs NM_032786 NP_116175 Q96K80 ZC3HA_HUMAN Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA. 215 nucleic acid binding|zinc ion binding p.C214C(1) breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) GGTGGATGCTGCCCCCCTGATG 0.554 MYF5 4617 broad.mit.edu 37 12 81112677 81112678 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:81112676_81112677A>AT uc001szg.2 + 2 749_750 c.614_615A>AT c.(613-615)gatfs p.D205fs NM_005593 NP_005584 P13349 MYF5_HUMAN Homo sapiens myogenic factor 5 (MYF5), mRNA. 205 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 TCCAGCTTGGATTGCTTATCCA 0.441 BTBD11 121551 broad.mit.edu 37 12 107937778 107937778 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:107937777_107937777AC>A uc001tmk.1 + 2 1872 c.1351_1351AC>A c.(1351-1353)accfs p.T451fs BTBD11_uc009zut.1_Frame_Shift_Del_p.T451fs|BTBD11_uc001tmj.3_Frame_Shift_Del_p.T451fs NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 451 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CGGCAATGGCACCCCCCTGCA 0.577 ASCL4 121549 broad.mit.edu 37 12 108169097 108169097 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:108169096_108169096AC>A uc001tmr.3 + 0 935 c.104_104AC>A c.(103-105)gacfs p.D35fs NM_203436 NP_982260 Q6XD76 ASCL4_HUMAN Homo sapiens achaete-scute complex homolog 4 (Drosophila) (ASCL4), mRNA. 34 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 13 CCGCGGAGGGACCCCCTCAGG 0.736 RASAL1 8437 broad.mit.edu 37 12 113539773 113539773 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr12:113539772_113539772TC>T uc001tun.2 - 19 2451 c.2150_2150GA>A c.(2149-2151)gacfs p.D717fs RASAL1_uc010syp.2_Frame_Shift_Del_p.D716fs|RASAL1_uc001tul.3_Frame_Shift_Del_p.D687fs|RASAL1_uc001tum.2_Frame_Shift_Del_p.D715fs NM_001193520 NP_001180449 O95294 RASL1_HUMAN Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA. 715 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|metal ion binding|phospholipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 GTCACTCCAGTCCCCCAGGGT 0.632 ATP12A 479 broad.mit.edu 37 13 25262564 25262565 + Frame_Shift_Ins INS - - G rs35191129 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:25262563_25262564T>TG uc010aaa.3 + 3 668_669 c.335_336T>TG c.(334-336)gtgfs p.V112fs ATP12A_uc001upp.3_Frame_Shift_Ins_p.V112fs NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 112 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.V112V(2) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AAGCAGATGGTGGGGGGGTTCT 0.584 USPL1 10208 broad.mit.edu 37 13 31211892 31211893 + Frame_Shift_Ins INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:31211891_31211892T>TA uc001utc.2 + 4 1311_1312 c.879_880T>TA c.(877-882)tgtaaafs p.C293fs USPL1_uc001utb.3_Frame_Shift_Ins_p.C112fs|USPL1_uc001utd.2_5'UTR|USPL1_uc001ute.1_5'UTR NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA. 293 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) ATGGAGATTGTAAAAAACTTAC 0.356 SPG20 23111 broad.mit.edu 37 13 36909272 36909272 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:36909271_36909271CA>C uc001uvn.3 - 2 967 c.697_697TG>G c.(697-699)gtafs p.V233fs SPG20_uc010ten.2_Frame_Shift_Del_p.V233fs|SPG20_uc001uvm.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvo.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvq.3_Frame_Shift_Del_p.V233fs|SPG20_uc001uvp.2_Frame_Shift_Del_p.V233fs NM_001142296 NP_055902 Q8N0X7 SPG20_HUMAN Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA. 233 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) GCAGGATTTACAAAAAAAATC 0.438 HTR2A 3356 broad.mit.edu 37 13 47409099 47409100 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:47409098_47409099C>CT uc010acr.3 - 3 1978_1979 c.1289_1290G>AG c.(1288-1290)aagfs p.K430fs HTR2A_uc001vbr.3_Frame_Shift_Ins_p.K346fs NM_000621 NP_000612 P28223 5HT2A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA. 430 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCTTTGAATTCTTTTTTTGTCC 0.401 SETDB2 83852 broad.mit.edu 37 13 50065970 50065970 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:50065969_50065969GA>G uc001vcz.3 + 14 3050 c.2144_2144GA>G c.(2143-2145)agafs p.R715fs SETDB2_uc001vda.3_Frame_Shift_Del_p.R703fs NM_031915 NP_114121 Q96T68 SETB2_HUMAN Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA. 715 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) AATAAATGTAGAAAAAAAATA 0.373 VPS36 51028 broad.mit.edu 37 13 52989994 52989994 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:52989993_52989993TA>T uc001vgs.3 - 13 1167 c.1133_1133TA>A c.(1132-1134)tacfs p.Y378fs VPS36_uc001vgq.3_Frame_Shift_Del_p.Y320fs NM_016075 NP_057159 Q86VN1 VPS36_HUMAN Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA. 378 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) TAAATTTGGGTAAAAACGCAG 0.393 ABCC4 10257 broad.mit.edu 37 13 95735432 95735432 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr13:95735431_95735431CA>C uc001vmd.4 - 20 2768 c.2649_2649TG>G c.(2647-2649)ttgfs p.L883fs ABCC4_uc010afk.3_Frame_Shift_Del_p.L836fs NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 883 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTGACGTTTCCAAAAAATATC 0.438 OR4K1 79544 broad.mit.edu 37 14 20403904 20403904 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:20403903_20403903CT>C uc001vwj.2 + 0 137 c.78_78CT>C c.(76-78)ttcfs p.F26fs NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F26L(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTCAACTTTTCTTTTTTGCCA 0.368 RNF31 55072 broad.mit.edu 37 14 24620009 24620009 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:24620008_24620008GC>G uc001wmn.1 + 7 1648 c.1399_1399GC>G c.(1399-1401)gccfs p.A467fs RNF31_uc001wml.1_Frame_Shift_Del_p.A316fs|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Frame_Shift_Del_p.A282fs|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN Homo sapiens ring finger protein 31 (RNF31), mRNA. 467 Polyubiquitin-binding. CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination CD40 receptor complex|LUBAC complex|internal side of plasma membrane ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) ACGCCTTAGTGCCCCCCTGCC 0.622 LTB4R 1241 broad.mit.edu 37 14 24784882 24784882 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:24784881_24784881AC>A uc001wou.3 + 1 356 c.24_24AC>A c.(22-24)gcafs p.A8fs LTB4R_uc001wos.3_Frame_Shift_Del_p.A8fs|LTB4R_uc010alp.3_Frame_Shift_Del_p.A8fs|LTB4R_uc021rrq.1_Frame_Shift_Del_p.A8fs NM_181657 NP_858043 Q15722 LT4R1_HUMAN Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA. 8 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CTTCTGCAGCACCCCCCTCAC 0.587 POLE2 5427 broad.mit.edu 37 14 50121545 50121545 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:50121544_50121544GT>G uc001wwu.3 - 12 1208 c.1031_1031AC>C c.(1030-1032)actfs p.T344fs NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_Frame_Shift_Del_p.T59fs|POLE2_uc021rsr.1_Frame_Shift_Del_p.T318fs|POLE2_uc010ano.3_Frame_Shift_Del_p.T344fs NM_002692 NP_002683 P56282 DPOE2_HUMAN Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA. 344 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) ATCTGCCAAAGTTTTTAGGGA 0.234 SOS2 6655 broad.mit.edu 37 14 50585067 50585068 + Frame_Shift_Ins INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:50585066_50585067T>TG uc001wxs.4 - 22 4092_4093 c.3994_3995A>CA c.(3994-3996)caafs p.Q1332fs SOS2_uc010ans.3_Frame_Shift_Ins_p.Q167fs|SOS2_uc010tql.2_Frame_Shift_Ins_p.Q1299fs|METTL21D_uc001wxn.1_5'Flank|METTL21D_uc001wxp.1_5'Flank|METTL21D_uc001wxq.1_5'Flank|METTL21D_uc001wxo.1_5'Flank NM_006939 NP_008870 Q07890 SOS2_HUMAN Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA. 1332 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CTAAGGTCATTGGGGAGTTTCT 0.376 ABCD4 5826 broad.mit.edu 37 14 74757130 74757130 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:74757129_74757129AG>A uc001xpr.2 - 11 1344 c.1192_1192CT>T c.(1192-1194)tccfs p.S398fs ABCD4_uc001xps.2_Frame_Shift_Del_p.S239fs|ABCD4_uc010tur.2_Frame_Shift_Del_p.S294fs|ABCD4_uc001xpu.2_Frame_Shift_Del_p.S135fs NM_005050 NP_005041 O14678 ABCD4_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA. 398 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) TTGTCAGAGGAGGGGGCAGAG 0.592 OREG0022800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) YLPM1 56252 broad.mit.edu 37 14 75230947 75230948 + Frame_Shift_Ins INS - - C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:75230946_75230947G>GC uc001xqj.4 + 0 878_879 c.754_755G>GC c.(754-756)gccfs p.A252fs NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ACCACCGTCCGCCCCCCCTGGA 0.579 C14orf159 80017 broad.mit.edu 37 14 91691032 91691032 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr14:91691031_91691031GA>G uc001xyw.2 + 13 2072 c.1720_1720GA>G c.(1720-1722)gaafs p.E574fs C14orf159_uc001xyz.2_Frame_Shift_Del_p.E445fs|C14orf159_uc001xzb.2_Frame_Shift_Del_p.E569fs|C14orf159_uc001xyx.2_Frame_Shift_Del_p.E517fs|C14orf159_uc001xzc.2_Frame_Shift_Del_p.E569fs|C14orf159_uc001xza.2_Frame_Shift_Del_p.E574fs|C14orf159_uc001xyv.2_Frame_Shift_Del_p.E534fs|C14orf159_uc001xze.2_Frame_Shift_Del_p.E569fs NM_001102368 NP_001095838 Q7Z3D6 CN159_HUMAN Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA. 569 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TTTCCAGGAAGAAAAAATGCT 0.488 CDAN1 146059 broad.mit.edu 37 15 43023871 43023871 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:43023870_43023870TG>T uc001zql.3 - 10 1804 c.1687_1687CA>A c.(1687-1689)accfs p.T563fs CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA. 563 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CCTGGGAAGGTGGGGGGTGGG 0.607 TP53BP1 7158 broad.mit.edu 37 15 43701201 43701202 + Frame_Shift_Del DEL AC AC - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:43701200_43701201GAC>G uc001zrs.3 - 25 5627_5628 c.5479_5480GTC>C c.(5479-5481)tctfs p.S1827fs TP53BP1_uc010udp.2_Frame_Shift_Del_p.S1825fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.S1830fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.S1832fs|TP53BP1_uc001zrp.3_Frame_Shift_Del_p.S244fs NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 1827 BRCT 1. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CCAGACATGAGACACACAAGGA 0.495 Other conserved DNA damage response genes ATP8B4 79895 broad.mit.edu 37 15 50193368 50193368 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:50193367_50193367CT>C uc001zxu.3 - 20 2353 c.2211_2211AG>G c.(2209-2211)aagfs p.K737fs ATP8B4_uc010ber.3_Frame_Shift_Del_p.K610fs|ATP8B4_uc010ufd.2_Frame_Shift_Del_p.K547fs|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Frame_Shift_Del_p.K35fs NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 737 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CCAGCTGCTGCTTTTTTTCAC 0.358 VPS13C 54832 broad.mit.edu 37 15 62244050 62244051 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:62244049_62244050A>AT uc002agz.3 - 38 4520_4521 c.4429_4430T>AT c.(4429-4431)attfs p.I1477fs VPS13C_uc002aha.3_Frame_Shift_Ins_p.I1434fs|VPS13C_uc002ahb.2_Frame_Shift_Ins_p.I1477fs|VPS13C_uc002ahc.2_Frame_Shift_Ins_p.I1434fs NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 1477 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CTGCATACTAATTTTTTTTAGA 0.332 NOX5 79400 broad.mit.edu 37 15 69331226 69331226 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:69331225_69331225CT>C uc002ars.2 + 8 1441 c.1400_1400CT>C c.(1399-1401)cctfs p.P467fs MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Frame_Shift_Del_p.P421fs|NOX5_uc002arp.2_Frame_Shift_Del_p.P449fs|NOX5_uc010bid.2_Frame_Shift_Del_p.P432fs|NOX5_uc010bie.2_Frame_Shift_Del_p.P267fs|NOX5_uc002arr.2_Frame_Shift_Del_p.P439fs|NOX5_uc010bif.2_Intron NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 467 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 AAGCGGCCCCCTTTTTTTCAC 0.542 SCAMP2 10066 broad.mit.edu 37 15 75146364 75146364 + Splice_Site DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:75146363_75146363TG>T uc002azb.1 - 3 299 c.225_splice c.e3+1 p.Q75_splice SCAMP2_uc002aza.1_Splice_Site NM_005697 NP_005688 O15127 SCAM2_HUMAN Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA. 75 post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 9 CAGCACTACCTGGGGGGTCGG 0.572 ZFAND6 54469 broad.mit.edu 37 15 80423588 80423589 + Frame_Shift_Ins INS - - A rs15416 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:80423587_80423588C>CA uc002bfe.2 + 5 852_853 c.430_431C>CA c.(430-432)caafs p.Q144fs ZFAND6_uc021srv.1_Intron|ZFAND6_uc021srw.1_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc002bfg.2_Frame_Shift_Ins_p.Q132fs|ZFAND6_uc002bff.2_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc021srx.1_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc021sry.1_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc002bfh.2_Frame_Shift_Ins_p.Q144fs|ZFAND6_uc002bfi.2_Frame_Shift_Ins_p.Q144fs NM_019006 NP_061879 Q6FIF0 ZFAN6_HUMAN Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA. 144 DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 AAAACCGAAACAAAAAAAGAAT 0.342 MCTP2 55784 broad.mit.edu 37 15 94910906 94910907 + Frame_Shift_Ins INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr15:94910905_94910906T>TG uc002btj.3 + 9 1438_1439 c.1373_1374T>TG c.(1372-1374)ctgfs p.L458fs MCTP2_uc002bti.2_Frame_Shift_Ins_p.L458fs|MCTP2_uc010boj.3_Frame_Shift_Ins_p.L187fs|MCTP2_uc010bok.3_Frame_Shift_Ins_p.L458fs|MCTP2_uc002btk.4_Frame_Shift_Ins_p.L46fs|MCTP2_uc002btl.3_Frame_Shift_Ins_p.L46fs NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 458 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GACAGCTGTCTGGGGGCTCTCC 0.535 UBN1 29855 broad.mit.edu 37 16 4924298 4924300 + In_Frame_Del DEL AGG AGG - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:4924297_4924299CAGG>C uc002cyb.3 + 14 2225_2227 c.1886_1888CAGG>C c.(1885-1890)acagga>aCga p.G631del UBN1_uc010uxw.2_In_Frame_Del_p.G631del|UBN1_uc002cyc.3_In_Frame_Del_p.G631del NM_001079514 NP_058632 Q9NPG3 UBN1_HUMAN Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA. 631 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.G630E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GATCACCAAACAGGAGGCCTGAG 0.542 CPPED1 55313 broad.mit.edu 37 16 12798726 12798726 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:12798725_12798725GC>G uc002dca.4 - 2 582 c.471_471GC>C c.(469-471)ggcfs p.G157fs CPPED1_uc002dcb.4_Intron NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA. 157 hydrolase activity|metal ion binding p.G156W(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 GGAACAGGACGCCCCCGACCC 0.612 MYH11 4629 broad.mit.edu 37 16 15820795 15820797 + In_Frame_Del DEL CTT CTT - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:15820794_15820796GCTT>G uc002ddx.3 - 28 3895_3897 c.3788_3790AAGC>C c.(3787-3792)aagctg>aCtg p.1263_1264KL>T MYH11_uc002ddv.3_In_Frame_Del_p.1263_1264KL>T|MYH11_uc002ddw.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc002ddy.3_In_Frame_Del_p.1256_1257KL>T|MYH11_uc010bvg.3_In_Frame_Del_p.1088_1089KL>T|MYH11_uc010bvh.3_5'Flank NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 1256 Missing (in AAT4). axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.K1256delK(1)|p.K1263delK(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TGCGCCTCCAGCTTCTTCTTCTT 0.616 T CBFB AML TMC5 79838 broad.mit.edu 37 16 19474619 19474620 + Frame_Shift_Ins INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:19474618_19474619G>GA uc002dgc.4 + 6 1914_1915 c.1165_1166G>GA c.(1165-1167)gaafs p.E389fs TMC5_uc010vaq.2_Frame_Shift_Ins_p.E389fs|TMC5_uc002dgb.4_Frame_Shift_Ins_p.E389fs|TMC5_uc010var.2_Frame_Shift_Ins_p.E389fs|TMC5_uc002dgd.1_Frame_Shift_Ins_p.E143fs|TMC5_uc002dge.4_Frame_Shift_Ins_p.E143fs|TMC5_uc002dgf.4_Frame_Shift_Ins_p.E72fs|TMC5_uc002dgg.4_Frame_Shift_Ins_p.E30fs NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 389 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGTTGACAAAGAAAAAAGCAAA 0.406 SRCAP 10847 broad.mit.edu 37 16 30736371 30736372 + Frame_Shift_Ins INS - - C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:30736370_30736371G>GC uc002dze.1 + 24 6010_6011 c.5625_5626G>GC c.(5623-5628)cagcccfs p.Q1875fs SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 PRSS36 146547 broad.mit.edu 37 16 31151942 31151942 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:31151941_31151941AG>A uc002ebd.3 - 12 2098 c.2039_2039CT>T c.(2038-2040)ctgfs p.L680fs PRSS36_uc010vff.2_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.2_Intron NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN Homo sapiens protease, serine, 36 (PRSS36), mRNA. 680 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 CAGGAGGGCCAGGGGGGGCCT 0.731 NOB1 28987 broad.mit.edu 37 16 69782978 69782979 + In_Frame_Ins INS - - TCC TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:69782977_69782978T>TTCC uc002exs.3 - 5 585_586 c.569_570A>GGAA c.(568-570)gaa>gGGAA p.E190G NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA. 190 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ACCCGTTTTCTTCCTCCTCCTC 0.520 WDR59 79726 broad.mit.edu 37 16 74976691 74976691 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:74976690_74976690AT>A uc002fdh.1 - 6 582 c.480_480AT>T c.(478-480)aatfs p.N160fs WDR59_uc002fdi.3_Frame_Shift_Del_p.N160fs|WDR59_uc021tli.1_Frame_Shift_Del_p.N139fs NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN Homo sapiens WD repeat domain 59 (WDR59), mRNA. 160 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GGCAGTTAGCATTTTTTTTAT 0.498 SPIRE2 84501 broad.mit.edu 37 16 89920972 89920972 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr16:89920971_89920971AC>A uc002foz.1 + 4 855 c.803_803AC>A c.(802-804)aacfs p.N268fs SPIRE2_uc010civ.1_Frame_Shift_Del_p.N183fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.N268fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.N220fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.N137fs NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA. 268 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CAGGAGTTCAACCCCCTCCCC 0.637 MIS12 79003 broad.mit.edu 37 17 5392616 5392616 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:5392615_5392615CA>C uc002gce.3 + 2 986 c.433_433CA>C c.(433-435)caafs p.Q145fs MIS12_uc002gcd.3_Frame_Shift_Del_p.Q145fs|MIS12_uc021tom.1_Frame_Shift_Del_p.Q145fs NM_024039 NP_076944 Q9H081 MIS12_HUMAN Homo sapiens MIS12, MIND kinetochore complex component, homolog (S. pombe) (MIS12), mRNA. 145 cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase MIS12/MIND type complex|cytosol|nucleus protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2) 12 ATTAGAAGAGCAAAAAATTGT 0.388 CHD3 1107 broad.mit.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:7798764_7798764AC>A uc002gjd.2 + 9 1790 c.1788_1788AC>A c.(1786-1788)ccafs p.P596fs CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 537 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CAGATGTCCCACCCCCCCGTC 0.577 PFAS 5198 broad.mit.edu 37 17 8167585 8167585 + Frame_Shift_Del DEL C C - rs138697840 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:8167584_8167584GC>G uc002gkr.3 + 15 1987 c.1846_1846GC>G c.(1846-1848)gccfs p.A616fs PFAS_uc010vuv.2_Frame_Shift_Del_p.A192fs|PFAS_uc010cnw.1_Frame_Shift_Del_p.A116fs|PFAS_uc002gks.3_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA. 616 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAGGGGGATGCCCCCCCGAC 0.592 ATAD5 79915 broad.mit.edu 37 17 29196630 29196630 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:29196629_29196629GT>G uc002hfs.1 + 13 3915 c.3572_3572GT>G c.(3571-3573)tgtfs p.C1191fs ATAD5_uc002hft.1_Frame_Shift_Del_p.C1088fs NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA. 1191 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CAAAAACCCTGTTTTTTTAAT 0.353 RHOT1 55288 broad.mit.edu 37 17 30500897 30500898 + Frame_Shift_Del DEL AG AG - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:30500896_30500897CAG>C uc002hgw.3 + 2 382_383 c.143_144CAG>C c.(142-144)ccafs p.P48fs RHOT1_uc002hgy.3_Frame_Shift_Del_p.P48fs|RHOT1_uc002hgz.3_Frame_Shift_Del_p.P48fs|RHOT1_uc002hha.3_5'UTR|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_5'UTR|RHOT1_uc010wby.2_Frame_Shift_Del_p.P48fs|RHOT1_uc002hhb.3_Frame_Shift_Del_p.P27fs|RHOT1_uc002hgv.3_Frame_Shift_Del_p.P48fs NM_001033568 NP_001028740 Q8IXI2 MIRO1_HUMAN Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA. 48 Miro 1. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane GTP binding|GTPase activity|calcium ion binding|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) GATGTCACCCCAGAGAGAGTTC 0.356 LIG3 3980 broad.mit.edu 37 17 33316509 33316509 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:33316508_33316508GC>G uc002hik.2 + 3 844 c.715_715GC>G c.(715-717)gccfs p.A239fs LIG3_uc002hii.3_Frame_Shift_Del_p.A239fs|LIG3_uc002hij.3_Frame_Shift_Del_p.A239fs|LIG3_uc010cth.1_Frame_Shift_Del_p.A248fs NM_013975 NP_039269 P49916 DNLI3_HUMAN Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA. 239 DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CTCTGGGGAAGCCCCCTCGAG 0.488 Other BER factors TOP2A 7153 broad.mit.edu 37 17 38562931 38562931 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:38562930_38562930GT>G uc002huq.3 - 14 1908 c.1749_1749AC>C c.(1747-1749)aacfs p.N583fs RARA_uc021txb.1_Intron NM_001067 NP_001058 P11388 TOP2A_HUMAN Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA. 583 DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTTCTTGCTTGTTTTTAGATA 0.378 KRT15 3866 broad.mit.edu 37 17 39674981 39674981 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:39674980_39674980TC>T uc002hwy.3 - 0 291 c.100_100GA>A c.(100-102)agtfs p.S34fs KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 34 Gly-rich.|Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) CCAGAGAGACTCCCCCCACCA 0.587 PLEKHH3 79990 broad.mit.edu 37 17 40825491 40825491 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:40825490_40825490AC>A uc002iau.2 - 4 1042 c.575_575GT>T c.(574-576)gtgfs p.V192fs PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Frame_Shift_Del_p.V192fs NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA. 192 PH. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) CCGCAATGCCACCCCCCAGCG 0.627 HDAC5 10014 broad.mit.edu 37 17 42157801 42157801 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:42157800_42157800TG>T uc002iff.1 - 21 3129 c.2797_2797CA>A c.(2797-2799)attfs p.I933fs HDAC5_uc002ifd.1_Frame_Shift_Del_p.I932fs|HDAC5_uc002ife.1_Frame_Shift_Del_p.I932fs|HDAC5_uc010czp.1_Frame_Shift_Del_p.I847fs NM_001015053 NP_001015053 Q9UQL6 HDAC5_HUMAN Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA. 932 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) ACGTCTCCAATGGGGGGGTCC 0.607 GJC1 10052 broad.mit.edu 37 17 42882090 42882091 + Frame_Shift_Ins INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:42882089_42882090C>CG uc002ihj.3 - 1 1607_1608 c.1096_1097G>CG c.(1096-1098)cggfs p.R366fs GJC1_uc002ihk.3_Frame_Shift_Ins_p.R366fs|GJC1_uc002ihl.3_Frame_Shift_Ins_p.R366fs|GJC1_uc021tyf.1_Frame_Shift_Ins_p.R366fs NM_005497 NP_005488 P36383 CXG1_HUMAN Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA. 366 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane p.P365>?(1) NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) CTTCTTCTCCCGGGGACCATGA 0.559 PLEKHM1 9842 broad.mit.edu 37 17 43522885 43522885 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:43522884_43522884TC>T uc002ija.3 - 8 2959 c.2789_2789GA>A c.(2788-2790)gatfs p.D930fs PLEKHM1_uc010wjm.2_Frame_Shift_Del_p.D902fs|PLEKHM1_uc002ijb.3_Frame_Shift_Del_p.D405fs|PLEKHM1_uc010wjn.1_Frame_Shift_Del_p.D879fs NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA. 930 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) GCCCAGGTAATCCCCCAGGAG 0.597 OSBPL7 114881 broad.mit.edu 37 17 45886343 45886344 + Frame_Shift_Ins INS - - G rs143462261 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:45886342_45886343C>CG uc002ilx.1 - 20 2387_2388 c.2184_2185G>CG c.(2182-2187)cccgacfs p.P728fs OSBPL7_uc002ilw.1_Frame_Shift_Ins_p.P290fs NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA. 728 lipid transport lipid binding p.D729fs*3(2) autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 CGCTCATGGTCGGGGGGCATTG 0.619 FTSJ3 117246 broad.mit.edu 37 17 61902414 61902416 + In_Frame_Del DEL CTT CTT - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:61902413_61902415GCTT>G uc002jbz.3 - 6 782_784 c.704_706AAGC>C c.(703-708)aagcca>aCca p.235_236KP>T FTSJ3_uc002jca.3_In_Frame_Del_p.235_236KP>T|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA. 235 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CACACCTTTGGCTTCTTCTTAGT 0.493 AXIN2 8313 broad.mit.edu 37 17 63532585 63532585 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:63532584_63532584GC>G uc002jfi.3 - 7 2284 c.1995_1995GC>C c.(1993-1995)ggcfs p.G665fs AXIN2_uc002jfh.3_Frame_Shift_Del_p.G600fs NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN Homo sapiens axin 2 (AXIN2), mRNA. 665 Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GCCCGCTGTTGCCCCCCCACA 0.657 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome WDR45L 56270 broad.mit.edu 37 17 80573851 80573851 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr17:80573850_80573850TC>T uc002kfq.3 - 9 1175 c.980_980GA>A c.(979-981)gagfs p.E327fs WDR45L_uc002kfr.3_Non-coding_Transcript NM_019613 NP_062559 Q5MNZ6 WIPI3_HUMAN Homo sapiens WDR45-like (WDR45L), mRNA. 327 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 12 Breast(20;0.00106)|all_neural(118;0.0952) all_cancers(8;0.101)|all_epithelial(8;0.198) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835) TCGGATGCACTCCCCCTTGGG 0.532 CEP192 55125 broad.mit.edu 37 18 13055922 13055923 + Frame_Shift_Del DEL CT CT - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:13055921_13055922ACT>A uc010xac.2 + 18 3412_3413 c.3332_3333ACT>A c.(3331-3333)aacfs p.N1111fs CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Frame_Shift_Del_p.N636fs|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Frame_Shift_Del_p.N852fs NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 706 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ATCCAGAATAACTCTGATACAA 0.381 NPC1 4864 broad.mit.edu 37 18 21121356 21121359 + Frame_Shift_Del DEL AGAG AGAG - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:21121355_21121358AAGAG>A uc002kum.4 - 14 2559_2562 c.2285_2288CTCTT>T c.(2284-2289)ctctttfs p.L762fs NPC1_uc010xaz.2_Frame_Shift_Del_p.L495fs|NPC1_uc010xba.1_Frame_Shift_Del_p.L607fs NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 762 SSD. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) CAATCCCGCAAAGAGAGAGAAGGT 0.529 KLHL14 57565 broad.mit.edu 37 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:30349861_30349861CG>C uc002kxm.1 - 1 1082 c.694_694CG>G c.(694-696)gtgfs p.V232fs NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA. 232 BACK. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TCCGACTCCACGGGGGGCGGC 0.647 PIAS2 9063 broad.mit.edu 37 18 44409833 44409833 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:44409832_44409832TA>T uc002lck.3 - 10 1390 c.1203_splice c.e10-1 p.G401_splice PIAS2_uc010dnp.3_Splice_Site_p.G99_splice|PIAS2_uc010xda.2_Splice_Site_p.G99_splice|PIAS2_uc002lcl.3_Splice_Site_p.G401_splice|PIAS2_uc002lcm.3_Splice_Site_p.G401_splice NM_004671 NP_004662 O75928 PIAS2_HUMAN Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA. 401 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body|nuclear speck DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 ATAAAAAGCCTAAAAAACAAT 0.333 ADNP2 22850 broad.mit.edu 37 18 77896426 77896426 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr18:77896425_77896425TA>T uc002lnw.3 + 3 3584 c.3129_3129TA>T c.(3127-3129)cctfs p.P1043fs NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 1043 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CATTAGATCCTAAAAAATATG 0.353 TLE2 7089 broad.mit.edu 37 19 3028804 3028805 + Splice_Site INS - - G TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:3028803_3028804T>TG uc010dth.3 - 2 288 c.25_splice c.e2-1 p.T9_splice TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 9 Gln-rich. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) GAGCGGGGTCTGGGGGGGGTGT 0.624 MCOLN1 57192 broad.mit.edu 37 19 7592423 7592423 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:7592422_7592422TC>T uc002mgo.3 + 4 729 c.588_588TC>T c.(586-588)gatfs p.D196fs MCOLN1_uc002mgp.3_Frame_Shift_Del_p.I83fs NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN Homo sapiens mucolipin 1 (MCOLN1), mRNA. 196 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCAGGTGGATCCCCCCGAGC 0.642 CPAMD8 27151 broad.mit.edu 37 19 17039884 17039885 + Frame_Shift_Ins INS - - C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:17039883_17039884G>GC uc002nfb.3 - 23 3185_3186 c.3153_3154C>GC c.(3151-3156)gggcatfs p.G1051fs NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1004 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.H1052fs*30(2) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTGTTCTGATGCCCCCCCAGGA 0.584 ZNF43 7594 broad.mit.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:21992086_21992086AT>A uc002nqj.3 - 3 883 c.753_753AT>T c.(751-753)aatfs p.N251fs ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ATCTAGTATAATTTTTTTTAT 0.348 ZNF43 7594 broad.mit.edu 37 19 22002026 22002026 + Splice_Site DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:22002025_22002025TA>T uc002nqj.3 - 2 134 c.4_splice c.e2-1 p.G2_splice ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CAATGGTCCCTAAAAAAAACA 0.383 MLL2 8085 broad.mit.edu 37 19 36210764 36210765 + Frame_Shift_Ins INS - - C rs60207923 by1000genomes TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:36210763_36210764A>AC uc021usv.1 + 2 514_515 c.514_515A>AC c.(514-516)accfs p.T172fs MLL2_uc021usu.1_5'UTR NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 629 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TGTGGCTCCTACCCCCCCAAAG 0.634 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) ZNF570 148268 broad.mit.edu 37 19 37976034 37976035 + Frame_Shift_Ins INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:37976033_37976034C>CA uc010efl.1 + 5 1796_1797 c.1677_1678C>CA c.(1675-1680)tgcaaafs p.C559fs ZNF570_uc002ogk.1_Frame_Shift_Ins_p.C503fs|ZNF570_uc010xtr.1_Frame_Shift_Ins_p.C300fs NM_144694 NP_653295 Q96NI8 ZN570_HUMAN Homo sapiens zinc finger protein 570 (ZNF570), mRNA. 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTAAGGAATGCAAAAAAACCTT 0.446 NCCRP1 342897 broad.mit.edu 37 19 39688716 39688716 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:39688715_39688715AC>A uc002okq.1 + 1 379 c.360_360AC>A c.(358-360)gcafs p.A120fs NM_001001414 NP_001001414 Q6ZVX7 NCRP1_HUMAN Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA. 120 FBA. protein catabolic process p.P119Q(1) kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 ATGAGCCAGCACCCCCTACTG 0.632 SUPT5H 6829 broad.mit.edu 37 19 39961164 39961165 + Splice_Site INS - - GT TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:39961163_39961164G>GGT uc002olo.4 + 18 1856 c.1677_splice c.e18+1 p.Q559_splice SUPT5H_uc002olp.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olq.4_Splice_Site_p.Q555_splice|SUPT5H_uc002oln.4_Splice_Site_p.Q559_splice|SUPT5H_uc002olr.4_Splice_Site_p.Q559_splice|SUPT5H_uc002ols.1_Splice_Site_p.Q182_splice|SUPT5H_uc010egp.1_5'Flank NM_001111020 NP_003160 O00267 SPT5H_HUMAN Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA. 559 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGACCTTCCAGGTGTGTGTGTT 0.614 CEACAM6 4680 broad.mit.edu 37 19 42260595 42260597 + In_Frame_Del DEL TTC TTC - rs147420110 byFrequency TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:42260594_42260596GTTC>G uc002orm.2 + 1 300_302 c.151_153GTTC>G c.(151-153)gtt>G p.V51del NM_002483 NP_002474 P40199 CEAM6_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA. 51 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) GGGGAAGGAGGTTCTTCTACTCG 0.502 BCL3 602 broad.mit.edu 37 19 45262843 45262843 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:45262842_45262842GC>G uc010xxe.2 + 8 1405 c.1335_1335GC>G c.(1333-1335)gtgfs p.V445fs NM_005178 NP_005169 P20749 BCL3_HUMAN Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA. 445 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) GCCGGCCGGTGCCCCCCTCCC 0.677 T IGH@ CLL CD3EAP 10849 broad.mit.edu 37 19 45911872 45911872 + Frame_Shift_Del DEL A A - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:45911871_45911871GA>G uc002pbr.1 + 2 657 c.651_651GA>G c.(649-651)aagfs p.K217fs PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Frame_Shift_Del_p.K215fs|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR NM_012099 NP_036231 O15446 RPA34_HUMAN Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA. 215 Poly-Lys. rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway RNA polymerase I transcription factor complex|chromosome DNA-directed RNA polymerase activity p.K215N(1) breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) AGAAGAAGAAGAAAAAAAATC 0.587 NLRP11 204801 broad.mit.edu 37 19 56303730 56303730 + Frame_Shift_Del DEL T T - rs71911386 TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr19:56303729_56303729AT>A uc010ygf.2 - 8 3162 c.2451_2451AT>T c.(2449-2451)aatfs p.N817fs NLRP11_uc002qlz.3_Frame_Shift_Del_p.N664fs|NLRP11_uc002qmb.3_Frame_Shift_Del_p.N718fs|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 817 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ACACTCCGTAATTTTTTAAGC 0.468 CTSA 5476 broad.mit.edu 37 20 44523668 44523668 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:44523667_44523667AC>A uc002xqh.3 + 10 1411 c.1037_1037AC>A c.(1036-1038)gacfs p.D346fs CTSA_uc002xqj.4_Frame_Shift_Del_p.D328fs|CTSA_uc010zxi.2_Frame_Shift_Del_p.D329fs|CTSA_uc002xqi.3_Non-coding_Transcript NM_000308 NP_001121167 P10619 PPGB_HUMAN Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA. 328 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GTGCGCATGGACCCCCCCTGC 0.637 ZNF831 128611 broad.mit.edu 37 20 57766220 57766221 + Frame_Shift_Ins INS - - C TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:57766219_57766220G>GC uc002yan.3 + 0 145_146 c.145_146G>GC c.(145-147)gccfs p.A49fs NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 49 Pro-rich. intracellular nucleic acid binding|zinc ion binding p.T52fs*47(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCAGGGCCTGGCCCCCCCCACT 0.728 COL20A1 57642 broad.mit.edu 37 20 61950424 61950424 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr20:61950423_61950423GC>G uc011aau.2 + 21 2777 c.2677_2677GC>G c.(2677-2679)gccfs p.A893fs COL20A1_uc011aav.2_Frame_Shift_Del_p.A714fs NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 893 TSP N-terminal. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CGTCTACCCAGCCCCCCTACC 0.647 BRWD1 54014 broad.mit.edu 37 21 40559024 40559025 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:40559023_40559024C>CT uc002yxk.2 - 41 7186_7187 c.6891_6892G>AG c.(6889-6894)aaagagfs p.K2297fs BRWD1_uc010goc.1_Frame_Shift_Ins_p.K940fs|BRWD1_uc021wjf.1_3'UTR NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 2297 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TCTTCTAGCTCTTTTTCACTTT 0.356 KRTAP10-9 386676 broad.mit.edu 37 21 46047615 46047615 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:46047614_46047614TC>T uc002zfp.4 + 0 575 c.526_526TC>T c.(526-528)tccfs p.S176fs TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA. 176 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 CTGCACTTCCTCCCCCTGCCA 0.587 PCNT 5116 broad.mit.edu 37 21 47863768 47863768 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr21:47863767_47863767TC>T uc002zji.4 + 44 9852 c.9745_9745TC>T c.(9745-9747)tccfs p.S3249fs PCNT_uc002zjj.3_Frame_Shift_Del_p.S3052fs NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 3249 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding p.T3252fs*84(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AACCAGAGAGTCCCCCCCAAC 0.577 SMARCB1 6598 broad.mit.edu 37 22 24135859 24135859 + Frame_Shift_Del DEL C C - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:24135858_24135858GC>G uc002zyd.3 + 2 525 c.318_318GC>G c.(316-318)gagfs p.E106fs SMARCB1_uc002zyg.2_Frame_Shift_Del_p.E115fs|SMARCB1_uc011ajb.1_Frame_Shift_Del_p.E106fs|SMARCB1_uc002zya.3_Frame_Shift_Del_p.E115fs|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.E115fs|SMARCB1_uc002zyc.3_Frame_Shift_Del_p.E106fs|SMARCB1_uc002zye.1_Frame_Shift_Del_p.E78fs|SMARCB1_uc002zyf.1_Non-coding_Transcript|SMARCB1_uc010gue.1_Intron NM_001007468 NP_001007469 Q12824 SNF5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA. 115 DNA-binding (Potential). DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm p53 binding p.?(2) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) TCAGCACAGAGCCCCCCACCT 0.532 """D, N, F, S""" malignant rhabdoid malignant rhabdoid MN1 4330 broad.mit.edu 37 22 28196398 28196398 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:28196397_28196397AG>A uc003adj.3 - 0 1090 c.135_135CT>T c.(133-135)cctfs p.P45fs NM_002430 NP_002421 Q10571 MN1_HUMAN Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA. 45 binding p.P45fs*8(1)|p.P44R(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CCACAGGGCCAGGGGGCCCCC 0.642 T ETV6 """AML, meningioma""" DEPDC5 9681 broad.mit.edu 37 22 32272206 32272206 + Frame_Shift_Del DEL G G - TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:32272205_32272205CG>C uc011alu.2 + 36 3961 c.3759_3759CG>C c.(3757-3759)tacfs p.Y1253fs DEPDC5_uc011als.2_Frame_Shift_Del_p.Y1153fs|DEPDC5_uc003als.3_Frame_Shift_Del_p.Y1222fs|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Frame_Shift_Del_p.Y1244fs|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Frame_Shift_Del_p.Y671fs|DEPDC5_uc003alw.3_Frame_Shift_Del_p.Y520fs|DEPDC5_uc011alx.2_Frame_Shift_Del_p.Y70fs|DEPDC5_uc010gwk.3_Frame_Shift_Del_p.Y248fs|DEPDC5_uc011aly.2_Frame_Shift_Del_p.Y70fs NM_001242896 NP_001229825 O75140 DEPD5_HUMAN Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA. 1222 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CCTTCATCTACGGCTTCTATT 0.507 PLXNB2 23654 broad.mit.edu 37 22 50721871 50721872 + In_Frame_Ins INS - - GAA TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chr22:50721870_50721871C>CGAA uc003bkv.4 - 15 2667_2668 c.2574_2575G>TTCG c.(2572-2577)atcgtg>atTTCGtg p.V859S PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 859 IPT/TIG 1. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ATCACACACACGATCCTGGCGG 0.668 SMPX 23676 broad.mit.edu 37 X 21772423 21772424 + Splice_Site INS - - A TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:21772422_21772423T>TA uc004daa.3 - 2 220 c.-11_splice c.e2-1 SMPX_uc022btv.1_Splice_Site NM_014332 NP_055147 Q9UHP9 SMPX_HUMAN Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA. striated muscle contraction breast(1)|endometrium(1) 2 GTCTTATCCCTAAAAAAACAAG 0.411 BRWD3 254065 broad.mit.edu 37 X 79942446 79942447 + Frame_Shift_Ins INS - - T TCGA-CG-4305-01A-01D-1158-08 TCGA-CG-4305-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx e33b1465-3e69-4cd5-b490-45852d5763ed 092ef146-44f8-430f-96ae-0a9a8ef08773 g.chrX:79942445_79942446G>GT uc004edt.3 - 34 4184_4185 c.3921_3922C>AC c.(3919-3924)aaacaafs p.K1307fs BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Frame_Shift_Ins_p.K1136fs|BRWD3_uc004edq.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc010nmj.2_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edr.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eds.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edo.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edu.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004edv.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edw.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edx.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edy.3_Frame_Shift_Ins_p.K903fs|BRWD3_uc004edz.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eea.3_Frame_Shift_Ins_p.K977fs|BRWD3_uc004eeb.3_Frame_Shift_Ins_p.K903fs NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 1307 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TCCTTGCATTGTTTTTTCCAAG 0.386