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 MIB2 142678 broad.mit.edu 37 1 1562274 1562274 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:1562274G>A uc001agg.2 + 10 1436 c.1309G>A c.(1309-1311)GCA>ACA p.A437T MIB2_uc001agh.2_Missense_Mutation_p.A423T|MIB2_uc001agi.2_Missense_Mutation_p.A433T|MIB2_uc001agj.2_Missense_Mutation_p.A278T|MIB2_uc001agk.2_Missense_Mutation_p.A372T|MIB2_uc001agl.1_Missense_Mutation_p.A393T|MIB2_uc001agm.2_Missense_Mutation_p.A314T|MIB2_uc010nyq.1_Missense_Mutation_p.A393T|MIB2_uc009vkh.2_Missense_Mutation_p.A243T|MIB2_uc001agn.2_Missense_Mutation_p.A69T|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 437 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCTGCGTGTAGCAGTCGCTGG 0.697 TMEM52 339456 broad.mit.edu 37 1 1849409 1849409 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:1849409A>C uc001aij.2 - 5 578 c.542T>G c.(541-543)CTT>CGT p.L181R TMEM52_uc001aii.2_Missense_Mutation_p.L166R NM_178545 NP_848640 Q8NDY8 TMM52_HUMAN transmembrane protein 52 precursor 181 integral to membrane 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGAGGCCCCAAGGAGAGGGCT 0.617 ARHGEF16 27237 broad.mit.edu 37 1 3396446 3396446 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:3396446G>A uc001akg.3 + 14 2207 c.1959G>A c.(1957-1959)GCG>GCA p.A653A ARHGEF16_uc001aki.2_Silent_p.A365A|ARHGEF16_uc001akj.2_Silent_p.A365A|ARHGEF16_uc010nzh.1_Silent_p.A357A NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 653 SH3. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TGCAGCAGGCGGACGTGGTCC 0.642 TP73 7161 broad.mit.edu 37 1 3644760 3644760 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:3644760C>T uc001akp.2 + 9 1163 c.1053C>T c.(1051-1053)GAC>GAT p.D351D TP73_uc001akq.2_Silent_p.D351D|TP73_uc010nzj.1_Silent_p.D302D|TP73_uc001akr.2_Silent_p.D302D|TP73_uc009vlk.1_Silent_p.D302D|TP73_uc001aks.2_Silent_p.D302D|TP73_uc010nzk.1_Silent_p.D280D|TP73_uc010nzl.1_Translation_Start_Site NM_005427 NP_005418 O15350 P73_HUMAN tumor protein p73 isoform a 351 Oligomerization (Potential).|Interaction with HIPK2. 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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity ovary(1)|lung(1) 2 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) GGCATGGAGACGAGGACACGT 0.677 CHD5 26038 broad.mit.edu 37 1 6206379 6206379 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:6206379G>A uc001amb.1 - 11 1795 c.1695C>T c.(1693-1695)AGC>AGT p.S565S CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 565 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TCCTCTTCTCGCTCTTGCCGT 0.532 SLC45A1 50651 broad.mit.edu 37 1 8404001 8404001 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:8404001G>A uc001apb.2 + 8 2175 c.2175G>A c.(2173-2175)CTG>CTA p.L725L SLC45A1_uc001apc.2_Silent_p.L423L NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 725 Helical; (Potential). carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) ACTCCTCCCTGTTTGTCATTT 0.637 DFFA 1676 broad.mit.edu 37 1 10521575 10521575 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:10521575G>T uc001arj.2 - 6 1066 c.968C>A c.(967-969)CCT>CAT p.P323H DFFA_uc001ark.2_3'UTR NM_004401 NP_004392 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha 323 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) GGCTCGCTTAGGATTCTGCAG 0.582 MASP2 10747 broad.mit.edu 37 1 11087239 11087239 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:11087239G>A uc001aru.2 - 11 1785 c.1764C>T c.(1762-1764)GTC>GTT p.V588V NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 588 Peptidase S1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) TCGGTATGTCGACATACATTA 0.423 MTOR 2475 broad.mit.edu 37 1 11217234 11217234 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:11217234G>A uc001asd.2 - 30 4565 c.4444C>T c.(4444-4446)CGC>TGC p.R1482C NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1482 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TCGAGGCAGCGCATGCGGCCC 0.532 PTCHD2 57540 broad.mit.edu 37 1 11561902 11561902 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:11561902G>A uc001ash.3 + 2 991 c.853G>A c.(853-855)GCG>ACG p.A285T PTCHD2_uc001asi.1_Missense_Mutation_p.A285T NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 285 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCGCGGCGACGCGGAGCGCAA 0.637 VPS13D 55187 broad.mit.edu 37 1 12336527 12336527 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:12336527T>C uc001atv.2 + 19 3023 c.2882T>C c.(2881-2883)GTG>GCG p.V961A VPS13D_uc001atw.2_Missense_Mutation_p.V961A|VPS13D_uc001atx.2_Missense_Mutation_p.V149A NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 961 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAATTTAAAGTGAACTGTATG 0.488 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PRDM2 7799 broad.mit.edu 37 1 14107244 14107244 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:14107244C>T uc001avi.2 + 8 3810 c.2954C>T c.(2953-2955)CCG>CTG p.P985L PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.P985L|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.P784L|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 985 Pro-rich.|SH3-binding (Potential). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GTTGCCACTCCGCCCCCTCCC 0.612 ARHGEF10L 55160 broad.mit.edu 37 1 17982495 17982495 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:17982495C>T uc001ban.2 + 24 2762 c.2603C>T c.(2602-2604)CCG>CTG p.P868L ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P829L|ARHGEF10L_uc001bao.2_Missense_Mutation_p.P829L|ARHGEF10L_uc001bap.2_Missense_Mutation_p.P824L|ARHGEF10L_uc001baq.2_Missense_Mutation_p.P629L|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.P641L|ARHGEF10L_uc001bar.2_Missense_Mutation_p.P571L|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 868 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) GAGTATATCCCGGAGCTGGAG 0.647 KLHDC7A 127707 broad.mit.edu 37 1 18809546 18809546 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:18809546G>A uc001bax.2 + 1 2123 c.2071G>A c.(2071-2073)GCC>ACC p.A691T KLHDC7A_uc009vpg.2_Missense_Mutation_p.A473T NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 691 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) CCTGGGCATCGCCGTGTACCG 0.687 ID3 3399 broad.mit.edu 37 1 23885634 23885634 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:23885634G>T uc001bhh.3 - 1 689 c.284C>A c.(283-285)CCC>CAC p.P95H ID3_uc001bhg.1_Missense_Mutation_p.P95H NM_002167 NP_002158 Q02535 ID3_HUMAN inhibitor of DNA binding 3 95 negative regulation of sequence-specific DNA binding transcription factor activity transcription corepressor activity p.P95S(1) central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GGGAAGGTGGGGGCCATCAGG 0.622 LDLRAP1 26119 broad.mit.edu 37 1 25890244 25890244 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:25890244C>T uc001bkl.3 + 7 823 c.709C>T c.(709-711)CCG>TCG p.P237S LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Missense_Mutation_p.P67S NM_015627 NP_056442 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 237 amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) GGACGAGGTGCCGCGGCCACA 0.627 MAP3K6 9064 broad.mit.edu 37 1 27687445 27687445 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:27687445C>T uc001bny.1 - 14 2136 c.1887G>A c.(1885-1887)GCG>GCA p.A629A MAP3K6_uc009vsw.1_Silent_p.A621A|MAP3K6_uc001bnz.1_Silent_p.A152A NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 629 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCGCCTCCTCCGCGGGCGCCG 0.716 SFRS4 6429 broad.mit.edu 37 1 29475303 29475303 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:29475303A>G uc001bro.2 - 6 1477 c.1104T>C c.(1102-1104)AGT>AGC p.S368S SFRS4_uc010ofy.1_3'UTR NM_005626 NP_005617 Q08170 SRSF4_HUMAN splicing factor, arginine/serine-rich 4 368 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding 0 Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151) Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138) tgcggctgcgactgcgactgc 0.08 SERINC2 347735 broad.mit.edu 37 1 31896597 31896597 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:31896597C>T uc010ogh.1 + 2 310 c.109C>T c.(109-111)CGC>TGC p.R37C SERINC2_uc010ogg.1_Missense_Mutation_p.R34C|SERINC2_uc009vtw.1_Missense_Mutation_p.R33C|SERINC2_uc001bst.2_Missense_Mutation_p.R33C|SERINC2_uc001bsu.2_5'UTR|SERINC2_uc001bsv.2_5'UTR NM_178865 NP_849196 Q96SA4 SERC2_HUMAN tumor differentially expressed 2-like 33 integral to membrane 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) CCCCGCCAGCCGCAACTCCAC 0.652 CSMD2 114784 broad.mit.edu 37 1 34003177 34003177 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:34003177G>A uc001bxn.1 - 60 9261 c.9232C>T c.(9232-9234)CGT>TGT p.R3078C CSMD2_uc001bxm.1_Missense_Mutation_p.R3222C NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3078 Extracellular (Potential).|Sushi 24. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTCCTCCCACGGGACGGGACA 0.592 MACF1 23499 broad.mit.edu 37 1 39900149 39900149 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:39900149G>A uc010oiu.1 + 33 13080 c.12949G>A c.(12949-12951)GCC>ACC p.A4317T MACF1_uc010ois.1_Missense_Mutation_p.A3815T|MACF1_uc001cda.1_Missense_Mutation_p.A3702T|MACF1_uc001cdc.1_Missense_Mutation_p.A2772T NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAGCGTTATGCCCGCCTAGA 0.423 PPIE 10450 broad.mit.edu 37 1 40204576 40204576 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:40204576G>A uc001cds.1 + 1 47 c.4G>A c.(4-6)GCC>ACC p.A2T PPIE_uc001cdt.1_5'UTR|PPIE_uc010oiy.1_5'UTR|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.A2T|PPIE_uc001cdw.2_Missense_Mutation_p.A2T NM_006112 NP_006103 Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E isoform 1 2 protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding 0 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAGCAAGATGGCCACCACCAA 0.682 KIAA0467 23334 broad.mit.edu 37 1 43912756 43912756 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:43912756G>A uc001cjk.1 + 51 6968 c.6506G>A c.(6505-6507)GGC>GAC p.G2169D KIAA0467_uc001cjl.1_Missense_Mutation_p.G157D NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 3068 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGCGGCACGGCTACCACCTC 0.602 PTPRF 5792 broad.mit.edu 37 1 44056811 44056811 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:44056811G>A uc001cjr.2 + 9 1458 c.1118G>A c.(1117-1119)CGC>CAC p.R373H PTPRF_uc001cjs.2_Missense_Mutation_p.R373H|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 373 Extracellular (Potential).|Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCCACCACCCGCTACAGCATT 0.657 PTPRF 5792 broad.mit.edu 37 1 44063476 44063476 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:44063476G>T uc001cjr.2 + 12 2211 c.1871G>T c.(1870-1872)CGG>CTG p.R624L PTPRF_uc001cjs.2_Missense_Mutation_p.R624L|PTPRF_uc001cju.2_Missense_Mutation_p.R195L|PTPRF_uc009vwt.2_Missense_Mutation_p.R195L|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 624 Extracellular (Potential).|Fibronectin type-III 4. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACCACGGTCCGGGTAAGTTGG 0.677 B4GALT2 8704 broad.mit.edu 37 1 44447064 44447064 + Missense_Mutation SNP G G A rs148339623 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:44447064G>A uc001clg.2 + 2 602 c.232G>A c.(232-234)GGG>AGG p.G78R B4GALT2_uc001clh.2_Silent_p.P26P|B4GALT2_uc010okl.1_Missense_Mutation_p.G107R|B4GALT2_uc001cli.2_Missense_Mutation_p.G78R NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 78 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CTCTAGCTCCGGGCTCCCTGA 0.632 RAD54L 8438 broad.mit.edu 37 1 46743909 46743909 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:46743909C>T uc009vye.2 + 19 2313 c.2199C>T c.(2197-2199)TTC>TTT p.F733F RAD54L_uc001cpl.2_Silent_p.F733F|RAD54L_uc001cpm.1_Silent_p.F516F NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 733 meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) CCATCACCTTCGTCTTCCACC 0.597 Direct_reversal_of_damage|Homologous_recombination BEND5 79656 broad.mit.edu 37 1 49224896 49224896 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:49224896G>A uc001crx.3 - 3 465 c.421C>T c.(421-423)CGG>TGG p.R141W AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_5'UTR NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN BEN domain containing 5 141 skin(1) 1 TTCTCTAGCCGAGCCACCACT 0.607 ZFYVE9 9372 broad.mit.edu 37 1 52811808 52811808 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:52811808C>T uc001cto.2 + 19 4365 c.4193C>T c.(4192-4194)CCG>CTG p.P1398L ZFYVE9_uc001ctp.2_Missense_Mutation_p.P1339L NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 1398 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 GCCTTGGTGCCGGTGATCCAT 0.512 C1orf175 374977 broad.mit.edu 37 1 55119617 55119617 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:55119617G>A uc010ooe.1 + 3 1342 c.1018G>A c.(1018-1020)GAC>AAC p.D340N C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.D340N|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.D340N|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 340 Ser-rich. integral to membrane binding 0 TCTGAGCCTGGACTCCAGCCT 0.567 JAK1 3716 broad.mit.edu 37 1 65301870 65301870 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:65301870T>C uc001dbu.1 - 23 3418 c.3169A>G c.(3169-3171)AAA>GAA p.K1057E JAK1_uc009wam.1_Missense_Mutation_p.K1045E|JAK1_uc009wal.1_Missense_Mutation_p.K234E NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 1057 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) ATATAAAATTTAGATTGCATT 0.428 Mis ALL JAK1 3716 broad.mit.edu 37 1 65321216 65321216 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:65321216G>A uc001dbu.1 - 11 1873 c.1624C>T c.(1624-1626)CGC>TGC p.R542C JAK1_uc009wam.1_Missense_Mutation_p.R530C NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 542 SH2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) TGGCAGCAGCGTTTTAGCATG 0.577 Mis ALL PDE4B 5142 broad.mit.edu 37 1 66831415 66831415 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:66831415T>C uc001dcn.2 + 13 1541 c.1350T>C c.(1348-1350)CAT>CAC p.H450H PDE4B_uc009war.2_Silent_p.H358H|PDE4B_uc001dco.2_Silent_p.H450H|PDE4B_uc001dcp.2_Silent_p.H435H|PDE4B_uc001dcq.2_Silent_p.H278H|PDE4B_uc009was.2_Silent_p.H217H NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 450 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ACGTTGATCATCCTGGAGTCT 0.428 ACADM 34 broad.mit.edu 37 1 76200474 76200474 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:76200474A>G uc001dgw.3 + 6 818 c.388_splice c.e6-2 p.Q130_splice ACADM_uc010orc.1_Splice_Site_p.A96_splice|ACADM_uc010ord.1_Splice_Site_p.Q44_splice|ACADM_uc009wbp.2_Splice_Site_p.Q134_splice|ACADM_uc009wbr.2_Splice_Site_p.Q163_splice|ACADM_uc010ore.1_Splice_Site_p.Q94_splice|ACADM_uc010orf.1_Intron|ACADM_uc001dgx.3_Splice_Site_p.Q44_splice|ACADM_uc010org.1_Splice_Site NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 TTTCTTCGGTAGCAAATGCCT 0.308 FAM73A 374986 broad.mit.edu 37 1 78279472 78279472 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:78279472C>T uc001dhx.2 + 6 723 c.691C>T c.(691-693)CGC>TGC p.R231C FAM73A_uc010ork.1_Missense_Mutation_p.R231C|FAM73A_uc010orl.1_Missense_Mutation_p.R193C|FAM73A_uc001dhy.1_Missense_Mutation_p.R20C NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 231 integral to membrane ovary(1) 1 Colorectal(170;0.226) TCTGACCTTTCGCAATAGACA 0.408 DNAJB4 11080 broad.mit.edu 37 1 78470858 78470858 + Nonsense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:78470858A>T uc001dij.2 + 1 223 c.64A>T c.(64-66)AAG>TAG p.K22* DNAJB4_uc010orn.1_Intron NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 22 J. protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding 0 AGATATTAAAAAGGCTTACCG 0.368 FNBP1L 54874 broad.mit.edu 37 1 93996334 93996334 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:93996334G>A uc001dpw.2 + 7 533 c.533G>A c.(532-534)CGT>CAT p.R178H FNBP1L_uc001dpv.2_Missense_Mutation_p.R178H|FNBP1L_uc010otk.1_5'UTR NM_001024948 NP_001020119 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like isoform 1 178 Induction of membrane tubulation (By similarity). endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) TTGAATCTGCGTACGCATATG 0.318 SARS 6301 broad.mit.edu 37 1 109772104 109772104 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:109772104G>A uc001dwu.1 + 4 432 c.357G>A c.(355-357)GCG>GCA p.A119A SARS_uc001dwt.1_Silent_p.A119A|SARS_uc001dwv.1_Silent_p.A119A|SARS_uc001dww.1_Silent_p.A52A|SARS_uc001dwx.1_Silent_p.A119A|SARS_uc009wfa.1_Silent_p.A119A|SARS_uc001dwy.1_5'UTR|SARS_uc001dwz.1_5'UTR NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 119 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) AGTGTGACGCGGAGCGGATAA 0.507 CTTNBP2NL 55917 broad.mit.edu 37 1 112998629 112998629 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:112998629G>A uc001ebx.2 + 6 743 c.515G>A c.(514-516)CGC>CAC p.R172H CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 172 Potential. actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAGAGGAGCGCTCCCGCCAC 0.468 MOV10 4343 broad.mit.edu 37 1 113234345 113234345 + Missense_Mutation SNP C C T rs148870988 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:113234345C>T uc001eck.2 + 6 1165 c.895C>T c.(895-897)CGC>TGC p.R299C MOV10_uc001ecl.2_Missense_Mutation_p.R299C|MOV10_uc001ecn.2_Missense_Mutation_p.R299C|MOV10_uc001ecm.2_Missense_Mutation_p.R239C|MOV10_uc009wgj.1_Missense_Mutation_p.R239C NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 299 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CCCACCTCCCCGCCTCAGGCA 0.547 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:115256529T>C uc009wgu.2 - 3 436 c.182A>G c.(181-183)CAA>CGA p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 GTP. Q -> K (in neuroblastoma cell). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1) haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1) 2607 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458 Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis melanoma|MM|AML|thyroid Noonan_syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) TRIM45 80263 broad.mit.edu 37 1 117660760 117660760 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:117660760C>T uc001egz.2 - 2 1706 c.1118G>A c.(1117-1119)CGC>CAC p.R373H TRIM45_uc009whe.2_Missense_Mutation_p.R373H|TRIM45_uc001eha.2_Missense_Mutation_p.R269H NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 373 cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) AGGACAGAAGCGTATCTTATC 0.468 ANKRD34A 284615 broad.mit.edu 37 1 145474607 145474607 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:145474607C>A uc001enq.1 + 4 2572 c.1279C>A c.(1279-1281)CCT>ACT p.P427T NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 427 Pro-rich. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTTCCTACCCCCTCTCAACGT 0.687 PIAS3 10401 broad.mit.edu 37 1 145578119 145578119 + Missense_Mutation SNP C C T rs142721064 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:145578119C>T uc001eoc.1 + 2 173 c.82C>T c.(82-84)CGG>TGG p.R28W NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.R19W|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 28 SAP. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTTTGCTGGCCGGAACAAGAG 0.542 PRPF3 9129 broad.mit.edu 37 1 150318544 150318544 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:150318544C>T uc001eum.3 + 13 1853 c.1691C>T c.(1690-1692)GCT>GTT p.A564V PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.A523V|PRPF3_uc010pcb.1_Missense_Mutation_p.A515V|PRPF3_uc009wlq.1_RNA NM_004698 NP_004689 O43395 PRPF3_HUMAN PRP3 pre-mRNA processing factor 3 homolog 564 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding ovary(1) 1 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) GAAGCCAATGCTGGGCAACTG 0.483 RPRD2 23248 broad.mit.edu 37 1 150444786 150444786 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:150444786G>A uc009wlr.2 + 11 3563 c.3362G>A c.(3361-3363)CGT>CAT p.R1121H RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1095H NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 1121 protein binding ovary(1) 1 GGACATGGGCGTGAGGCTTCA 0.542 LYSMD1 388695 broad.mit.edu 37 1 151133390 151133390 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:151133390G>A uc001ewy.2 - 3 1288 c.652C>T c.(652-654)CGG>TGG p.R218W LYSMD1_uc010pcr.1_Missense_Mutation_p.R170W NM_212551 NP_997716 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain 218 cell wall macromolecule catabolic process 0 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) TCCTGGTCCCGTAGTGTCCGG 0.567 HRNR 388697 broad.mit.edu 37 1 152191933 152191933 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:152191933G>A uc001ezt.1 - 3 2248 c.2172C>T c.(2170-2172)TCC>TCT p.S724S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 724 7. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCTGTAGCCGGAGGAGTGAC 0.542 KIRREL 55243 broad.mit.edu 37 1 158064489 158064489 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:158064489G>T uc001frn.3 + 15 2257 c.1853G>T c.(1852-1854)AGG>ATG p.R618M KIRREL_uc010pib.1_Missense_Mutation_p.R518M|KIRREL_uc009wsq.2_Missense_Mutation_p.R454M|KIRREL_uc001fro.3_Missense_Mutation_p.R432M|uc001frp.2_5'Flank NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 618 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CCGTCTTCCAGGGCAGTGCTC 0.637 OR10J5 127385 broad.mit.edu 37 1 159505663 159505663 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:159505663A>G uc010piw.1 - 1 135 c.135T>C c.(133-135)ATT>ATC p.I45I NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) TGATAGTCACAATGATGATGT 0.413 ATP1A2 477 broad.mit.edu 37 1 160106150 160106150 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:160106150C>T uc001fvc.2 + 18 2685 c.2553C>T c.(2551-2553)TAC>TAT p.Y851Y ATP1A2_uc001fvb.2_Silent_p.Y851Y|ATP1A2_uc001fvd.2_Silent_p.Y587Y NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 851 Helical; (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCATGGCCTACGGACAGATCG 0.577 ADAMTS4 9507 broad.mit.edu 37 1 161160941 161160941 + Missense_Mutation SNP G G A rs114600134 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:161160941G>A uc001fyt.3 - 9 2929 c.2501C>T c.(2500-2502)GCG>GTG p.A834V NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 834 Spacer. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TTTCCTGCCCGCCCAGGGGCG 0.637 F5 2153 broad.mit.edu 37 1 169511840 169511840 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:169511840G>T uc001ggg.1 - 13 2633 c.2488C>A c.(2488-2490)CCA>ACA p.P830T NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 830 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCAGAATATGGGCTGGAATGC 0.488 F5 2153 broad.mit.edu 37 1 169511874 169511874 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:169511874T>C uc001ggg.1 - 13 2599 c.2454A>G c.(2452-2454)TCA>TCG p.S818S NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 818 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AATTGAGAACTGAGTTCTTGC 0.488 CACYBP 27101 broad.mit.edu 37 1 174976324 174976324 + Missense_Mutation SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:174976324T>A uc001gkj.1 + 4 848 c.423T>A c.(421-423)AGT>AGA p.S141R CACYBP_uc001gki.1_Missense_Mutation_p.S98R NM_014412 NP_055227 Q9HB71 CYBP_HUMAN calcyclin binding protein isoform 1 141 Interaction with SKP1.|CS. beta-catenin destruction complex protein homodimerization activity 0 TGGAAGGCAGTTCAAAAAAAG 0.358 ABL2 27 broad.mit.edu 37 1 179078099 179078099 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:179078099G>A uc001gmj.3 - 12 2590 c.2303C>T c.(2302-2304)CCC>CTC p.P768L ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Missense_Mutation_p.P747L|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Missense_Mutation_p.P753L|ABL2_uc001gmh.3_Missense_Mutation_p.P732L|ABL2_uc010pne.1_Intron NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 768 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) ACTGGCTGTGGGTTTACCTGC 0.532 T ETV6 AML HMCN1 83872 broad.mit.edu 37 1 186008082 186008082 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:186008082C>T uc001grq.1 + 38 6202 c.5973C>T c.(5971-5973)TGC>TGT p.C1991C NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1991 Ig-like C2-type 17. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TATATAAATGCGTGGCCATCA 0.433 HMCN1 83872 broad.mit.edu 37 1 186114898 186114898 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:186114898G>T uc001grq.1 + 93 14680 c.14451G>T c.(14449-14451)TGG>TGT p.W4817C HMCN1_uc001grs.1_Missense_Mutation_p.W386C NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4817 TSP type-1 6. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATGGAAGTTGGGGAAGCTGGC 0.502 ZBTB41 360023 broad.mit.edu 37 1 197144169 197144169 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:197144169G>A uc001gtx.1 - 8 2025 c.1956C>T c.(1954-1956)AGC>AGT p.S652S ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 652 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 CAAGGTGTACGCTTTTGTAAT 0.353 PPP1R12B 4660 broad.mit.edu 37 1 202409874 202409874 + Missense_Mutation SNP G G T rs111305872 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:202409874G>T uc001gya.1 + 11 1643 c.1499G>T c.(1498-1500)CGG>CTG p.R500L PPP1R12B_uc001gxz.1_Missense_Mutation_p.R500L NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 500 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) CTAGCACCCCGGAAGCTCAAC 0.388 CNTN2 6900 broad.mit.edu 37 1 205033795 205033795 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:205033795G>A uc001hbr.2 + 12 1705 c.1436G>A c.(1435-1437)AGC>AAC p.S479N CNTN2_uc001hbq.1_Missense_Mutation_p.S370N|CNTN2_uc001hbs.2_Missense_Mutation_p.S267N NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 479 Ig-like C2-type 5. 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) AGAAACATCAGCCGGTCAGAT 0.527 TMCC2 9911 broad.mit.edu 37 1 205210709 205210709 + Missense_Mutation SNP G G A rs138497244 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:205210709G>A uc001hbz.1 + 3 728 c.284G>A c.(283-285)CGG>CAG p.R95Q TMCC2_uc010prf.1_Missense_Mutation_p.R17Q NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 95 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CGTCGGTCTCGGGAAAGGGAG 0.587 TMCC2 9911 broad.mit.edu 37 1 205210851 205210851 + Silent SNP C C T rs140397839 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:205210851C>T uc001hbz.1 + 3 870 c.426C>T c.(424-426)CCC>CCT p.P142P TMCC2_uc010prf.1_Silent_p.P64P NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 142 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) ACGACCTGCCCGCCCGGCCCA 0.597 CDK18 5129 broad.mit.edu 37 1 205492350 205492350 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:205492350C>A uc001hcr.2 + 2 274 c.55C>A c.(55-57)CGC>AGC p.R19S CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.R19S|CDK18_uc001hcq.2_Missense_Mutation_p.R19S|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 17 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 GTCAGTGCCCCGCACTGAGAC 0.552 NUCKS1 64710 broad.mit.edu 37 1 205687461 205687461 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:205687461C>T uc001hdb.2 - 7 939 c.679G>A c.(679-681)GAG>AAG p.E227K NM_022731 NP_073568 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent 227 nucleus 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CCAGATTTCTCGGGTGGGGGG 0.438 USH2A 7399 broad.mit.edu 37 1 215956110 215956110 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:215956110A>G uc001hku.1 - 53 10942 c.10555T>C c.(10555-10557)TTA>CTA p.L3519L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3519 Extracellular (Potential).|Fibronectin type-III 20. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTCCAGTTTAAGACAATTGTA 0.348 HNSCC(13;0.011) MIA3 375056 broad.mit.edu 37 1 222802330 222802330 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:222802330G>A uc001hnl.2 + 4 1777 c.1768G>A c.(1768-1770)GCA>ACA p.A590T MIA3_uc009xea.1_Missense_Mutation_p.A426T NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 590 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) CCACCCTAACGCATCCAGAGA 0.483 LIN9 286826 broad.mit.edu 37 1 226426763 226426763 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:226426763T>C uc001hqa.2 - 12 1512 c.1202A>G c.(1201-1203)CAG>CGG p.Q401R LIN9_uc001hqb.2_Missense_Mutation_p.Q366R|LIN9_uc001hqc.2_Missense_Mutation_p.Q333R|LIN9_uc009xel.1_Missense_Mutation_p.Q366R NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 385 Potential. cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) ATATCTCCGCTGAAATTCAAT 0.353 OBSCN 84033 broad.mit.edu 37 1 228509303 228509303 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:228509303G>A uc009xez.1 + 55 14805 c.14761G>A c.(14761-14763)GTG>ATG p.V4921M OBSCN_uc001hsn.2_Missense_Mutation_p.V4921M NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4921 Ig-like 48. 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) GGAGTGTGTCGTGGCCAGCAA 0.637 SIPA1L2 57568 broad.mit.edu 37 1 232561511 232561511 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:232561511C>T uc001hvg.2 - 16 4612 c.4454G>A c.(4453-4455)CGC>CAC p.R1485H SIPA1L2_uc001hvf.2_Missense_Mutation_p.R559H NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1485 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AGACAGCGTGCGGTAAAGCGA 0.542 PCNXL2 80003 broad.mit.edu 37 1 233136126 233136126 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:233136126G>A uc001hvl.2 - 30 5488 c.5253C>T c.(5251-5253)CAC>CAT p.H1751H PCNXL2_uc001hvk.1_Silent_p.H403H|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1751 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) CGTCCACCACGTGCCGCAGGG 0.607 CHRM3 1131 broad.mit.edu 37 1 240070882 240070882 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:240070882G>A uc001hyp.2 + 5 910 c.131G>A c.(130-132)CGA>CAA p.R44Q NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 44 Extracellular (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) AATGTTTCTCGAGCAGCTGGC 0.557 ZNF496 84838 broad.mit.edu 37 1 247464040 247464040 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:247464040G>A uc001ico.2 - 9 2010 c.1545C>T c.(1543-1545)AAC>AAT p.N515N ZNF496_uc009xgv.2_Silent_p.N551N|ZNF496_uc001icp.2_Silent_p.N515N NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 515 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) TGGCCTTGCCGTTTTCCAGCG 0.632 MLLT10 8028 broad.mit.edu 37 10 22002772 22002772 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:22002772G>A uc001iqs.2 + 15 2167 c.1819G>A c.(1819-1821)GTC>ATC p.V607I MLLT10_uc001iqt.2_Missense_Mutation_p.V591I|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.V591I|MLLT10_uc001ira.2_Missense_Mutation_p.V48I|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 607 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 TAGTACTCCTGTCTCCAGCTC 0.443 T MLL|PICALM|CDK6 AL FRMPD2 143162 broad.mit.edu 37 10 49440209 49440209 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:49440209A>T uc001jgi.2 - 10 1224 c.1117T>A c.(1117-1119)TCC>ACC p.S373T FRMPD2_uc001jgh.2_Missense_Mutation_p.S342T|FRMPD2_uc001jgj.2_Missense_Mutation_p.S351T NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 373 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TTGGCAAAGGATGTCACGGCA 0.532 C10orf72 196740 broad.mit.edu 37 10 50315809 50315809 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:50315809C>T uc001jhf.2 - 2 316 c.287G>A c.(286-288)CGG>CAG p.R96Q C10orf72_uc001jhh.2_Missense_Mutation_p.R96Q NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 96 Ig-like.|Extracellular (Potential). integral to membrane|plasma membrane 0 CAGCCTCCGCCGTTTGGCGCT 0.607 DRGX 644168 broad.mit.edu 37 10 50574403 50574403 + Missense_Mutation SNP C C T rs143541395 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:50574403C>T uc010qgq.1 - 6 565 c.565G>A c.(565-567)GTC>ATC p.V189I NM_001080520 NP_001073989 A6NNA5 DRGX_HUMAN dorsal root ganglia homeobox 189 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGGTCTGGGACGCAGCAAGAG 0.607 NCOA4 8031 broad.mit.edu 37 10 51584688 51584688 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:51584688A>G uc001jis.3 + 8 990 c.787A>G c.(787-789)AAG>GAG p.K263E PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.K279E|NCOA4_uc010qhd.1_Missense_Mutation_p.K279E|NCOA4_uc010qhe.1_Missense_Mutation_p.K163E|NCOA4_uc010qhf.1_Missense_Mutation_p.K97E|NCOA4_uc001jit.2_Missense_Mutation_p.K263E|NCOA4_uc009xoo.2_Missense_Mutation_p.K263E NM_001145263 NP_001138735 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 isoform 3 263 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity central_nervous_system(1)|kidney(1) 2 CTGGCTCCTCAAGAGTGAAAA 0.388 T RET papillary thyroid FAM21A 387680 broad.mit.edu 37 10 51829407 51829407 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:51829407A>T uc001jjb.2 + 3 309 c.227A>T c.(226-228)GAT>GTT p.D76V uc001jiz.1_5'Flank|FAM21A_uc001jja.1_5'UTR|FAM21A_uc010qhi.1_Missense_Mutation_p.D76V|FAM21A_uc010qhj.1_Missense_Mutation_p.D76V NM_001005751 NP_001005751 Q641Q2 FA21A_HUMAN hypothetical protein LOC387680 76 retrograde transport, endosome to Golgi early endosome membrane|WASH complex ovary(1) 1 AAAGCCACAGATTGTCGCCTG 0.383 CTNNA3 29119 broad.mit.edu 37 10 68940148 68940148 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:68940148C>T uc009xpn.1 - 7 1097 c.974G>A c.(973-975)CGA>CAA p.R325Q CTNNA3_uc001jmw.2_Missense_Mutation_p.R325Q|CTNNA3_uc001jmx.3_Missense_Mutation_p.R325Q|CTNNA3_uc009xpo.1_Missense_Mutation_p.R185Q|CTNNA3_uc001jna.2_Missense_Mutation_p.R337Q NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 325 Potential. cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 AATCCGCTCTCGGTGTAAGTC 0.512 PSAP 5660 broad.mit.edu 37 10 73581689 73581689 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:73581689C>T uc001jsm.2 - 8 957 c.853G>A c.(853-855)GCC>ACC p.A285T PSAP_uc001jsl.2_Missense_Mutation_p.A9T NM_002778 NP_002769 P07602 SAP_HUMAN prosaposin isoform a preproprotein 285 glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding ovary(1) 1 GCCACTTTGGCGGGGACCAGA 0.542 EIF5AL1 143244 broad.mit.edu 37 10 81272626 81272626 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:81272626C>T uc009xrx.2 + 1 270 c.221C>T c.(220-222)CCG>CTG p.P74L uc010qls.1_5'Flank NM_001099692 NP_001093162 Q6IS14 IF5AL_HUMAN eukaryotic translation initiation factor 5A-like 74 mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport endoplasmic reticulum membrane|nuclear pore ribosome binding|translation elongation factor activity 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) GATATCTGCCCGTCAACTCAT 0.498 ANXA11 311 broad.mit.edu 37 10 81915622 81915622 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:81915622C>T uc001kbq.1 - 17 2330 c.1505G>A c.(1504-1506)GGT>GAT p.G502D ANXA11_uc010qlx.1_Missense_Mutation_p.G602D|ANXA11_uc001kbr.1_Missense_Mutation_p.G502D|ANXA11_uc001kbs.1_Missense_Mutation_p.G502D|ANXA11_uc001kbt.1_Missense_Mutation_p.G502D|ANXA11_uc010qly.1_Missense_Mutation_p.G469D|ANXA11_uc009xsq.1_Missense_Mutation_p.G506D|ANXA11_uc001kbu.1_Missense_Mutation_p.G502D NM_145869 NP_665876 P50995 ANX11_HUMAN annexin A11 502 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding ovary(1) 1 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GTCATTGCCACCACAGATCTT 0.507 C10orf28 27291 broad.mit.edu 37 10 99968718 99968718 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:99968718G>T uc001kow.3 + 4 1142 c.847G>T c.(847-849)GAT>TAT p.D283Y C10orf28_uc001kox.3_Missense_Mutation_p.D283Y|C10orf28_uc001koy.3_Missense_Mutation_p.D283Y|C10orf28_uc009xvx.2_Missense_Mutation_p.D283Y|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 283 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) AACTTGCGTAGATTTTGAAGT 0.423 LOXL4 84171 broad.mit.edu 37 10 100016575 100016575 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:100016575G>A uc001kpa.1 - 9 1541 c.1390C>T c.(1390-1392)CGA>TGA p.R464* NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 464 SRCR 4. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) CCGAGCTGTCGGCAGGCCACC 0.602 DNMBP 23268 broad.mit.edu 37 10 101728961 101728961 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:101728961G>A uc001kqj.2 - 3 271 c.179C>T c.(178-180)ACC>ATC p.T60I NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 60 SH3 1. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ACTGGGAATGGTCACAATTTC 0.408 PKD2L1 9033 broad.mit.edu 37 10 102048787 102048787 + Silent SNP C C A rs140831551 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:102048787C>A uc001kqx.1 - 15 2660 c.2277G>T c.(2275-2277)CCG>CCT p.P759P BLOC1S2_uc001kqv.1_5'Flank|BLOC1S2_uc001kqw.1_5'Flank|PKD2L1_uc009xwm.1_Silent_p.P712P NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 759 Cytoplasmic (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GGGCTGGCTGCGGGTGCTTCC 0.517 SEMA4G 57715 broad.mit.edu 37 10 102732747 102732747 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:102732747G>A uc010qpt.1 + 2 521 c.78G>A c.(76-78)CCG>CCA p.P26P SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krw.1_Silent_p.P26P|SEMA4G_uc001krx.2_Silent_p.P26P|MIR608_hsa-mir-608|MI0003621_5'Flank NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN semaphorin 4G 26 Extracellular (Potential). cell differentiation|nervous system development integral to membrane receptor activity breast(1) 1 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) TGCGGAGACCGTCTAGAGAAC 0.607 LZTS2 84445 broad.mit.edu 37 10 102762318 102762318 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:102762318C>T uc001ksj.2 + 2 92 c.23C>T c.(22-24)CCA>CTA p.P8L LZTS2_uc010qpw.1_Missense_Mutation_p.P8L|LZTS2_uc001ksk.2_Missense_Mutation_p.P8L|LZTS2_uc001ksl.2_Missense_Mutation_p.P8L|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 8 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) CAGACTCTGCCAGTGCCACTG 0.657 FBXW4 6468 broad.mit.edu 37 10 103436163 103436163 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:103436163C>T uc001kto.2 - 2 637 c.291G>A c.(289-291)GTG>GTA p.V97V NM_022039 NP_071322 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 97 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex skin(1) 1 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) GAGACACCTTCACTCGTTCCT 0.478 ELOVL3 83401 broad.mit.edu 37 10 103987432 103987432 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:103987432G>T uc001kut.2 + 2 314 c.151G>T c.(151-153)GGG>TGG p.G51W NM_152310 NP_689523 Q9HB03 ELOV3_HUMAN elongation of very long chain fatty acids like 51 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding ovary(2) 2 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) CATCGCTGTGGGGCAGAACTA 0.557 PSD 5662 broad.mit.edu 37 10 104176728 104176728 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:104176728C>T uc001kvg.1 - 2 595 c.68G>A c.(67-69)CGC>CAC p.R23H PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R23H|PSD_uc001kvi.1_Missense_Mutation_p.R23H|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 23 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GAGCCAGCGGCGTGGGCATCG 0.711 INA 9118 broad.mit.edu 37 10 105046856 105046856 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:105046856G>A uc001kws.2 + 2 1179 c.1130G>A c.(1129-1131)CGG>CAG p.R377Q NM_032727 NP_116116 Q16352 AINX_HUMAN internexin neuronal intermediate filament 377 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton ovary(1)|breast(1) 2 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CGCCACCTTCGGGAATACCAG 0.463 PDCD11 22984 broad.mit.edu 37 10 105201638 105201638 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:105201638C>T uc001kwy.1 + 31 4700 c.4613C>T c.(4612-4614)GCT>GTT p.A1538V NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1538 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TCAGGCTTCGCTTGGAATGTG 0.597 CALHM2 51063 broad.mit.edu 37 10 105209489 105209489 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:105209489G>A uc001kwz.2 - 2 596 c.210C>T c.(208-210)ATC>ATT p.I70I CALHM2_uc001kxa.2_Silent_p.I70I|CALHM2_uc001kxc.2_Silent_p.I70I|CALHM2_uc001kxb.2_Silent_p.I70I|CALHM2_uc001kxd.1_Silent_p.I70I NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 70 Helical; (Potential). integral to membrane skin(1) 1 TGATGCCAATGATGAAGAGCA 0.642 KIAA1598 57698 broad.mit.edu 37 10 118674916 118674916 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:118674916G>A uc009xyw.2 - 13 1773 c.1275C>T c.(1273-1275)CCC>CCT p.P425P KIAA1598_uc001lcz.3_Silent_p.P425P|KIAA1598_uc010qso.1_Silent_p.P365P|KIAA1598_uc010qsp.1_Silent_p.P425P|KIAA1598_uc010qsq.1_Silent_p.P365P|KIAA1598_uc001lcy.3_Silent_p.P395P NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 425 axon guidance axon 0 all cancers(201;0.00494) TCTGATTAACGGGTCTAAGAT 0.363 C10orf46 143384 broad.mit.edu 37 10 120460914 120460914 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:120460914A>G uc001lds.1 - 5 1184 c.700T>C c.(700-702)TTT>CTT p.F234L C10orf46_uc010qst.1_RNA NM_153810 NP_722517 Q86Y37 CJ046_HUMAN chromosome 10 open reading frame 46 234 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding 0 Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0131) TCGATGTAAAACTTATTCTGA 0.299 WDR11 55717 broad.mit.edu 37 10 122661812 122661812 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:122661812C>T uc010qtf.1 + 22 2969 c.2731C>T c.(2731-2733)CAG>TAG p.Q911* WDR11_uc010qte.1_Nonsense_Mutation_p.Q513*|WDR11_uc001lfd.1_Nonsense_Mutation_p.Q429*|WDR11_uc009xzn.2_Nonsense_Mutation_p.Q202* NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 911 WD 9. integral to membrane 0 CACTCTCTTGCAGAGGTGCCT 0.343 ADAM12 8038 broad.mit.edu 37 10 127753389 127753389 + Missense_Mutation SNP G G A rs149776150 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:127753389G>A uc001ljk.2 - 14 2017 c.1604C>T c.(1603-1605)ACG>ATG p.T535M ADAM12_uc010qul.1_Missense_Mutation_p.T486M|ADAM12_uc001ljm.2_Missense_Mutation_p.T535M|ADAM12_uc001ljn.2_Missense_Mutation_p.T532M|ADAM12_uc001ljl.3_Missense_Mutation_p.T532M NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 535 Extracellular (Potential).|Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TCCCCAGAGCGTGACACACTG 0.602 PTPRE 5791 broad.mit.edu 37 10 129881102 129881102 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:129881102T>C uc001lkb.2 + 21 2314 c.2035T>C c.(2035-2037)TAT>CAT p.Y679H PTPRE_uc009yat.2_Missense_Mutation_p.Y690H|PTPRE_uc009yau.2_Missense_Mutation_p.Y679H|PTPRE_uc001lkd.2_Missense_Mutation_p.Y621H|PTPRE_uc010quq.1_Silent_p.S534S NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 679 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) TCAGGAACAGTATGAATTCTG 0.254 MKI67 4288 broad.mit.edu 37 10 129899944 129899944 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:129899944G>A uc001lke.2 - 14 9478 c.9283C>T c.(9283-9285)CGC>TGC p.R3095C MKI67_uc001lkf.2_Missense_Mutation_p.R2735C NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 3095 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTATTTTGGCGTCTGGAGCGC 0.368 MUC2 4583 broad.mit.edu 37 11 1085825 1085825 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:1085825T>C uc001lsx.1 + 21 2773 c.2746T>C c.(2746-2748)TGC>CGC p.C916R NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 916 VWFD 3. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|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;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGGCGTCACCTGCTCCAAGGC 0.642 OR51E1 143503 broad.mit.edu 37 11 4674184 4674184 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:4674184G>A uc001lzi.3 + 2 572 c.428G>A c.(427-429)CGT>CAT p.R143H NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 142 Helical; Name=4; (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) ACGTTGCCTCGTGTCACCAAA 0.567 OR51B2 79345 broad.mit.edu 37 11 5345106 5345106 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:5345106G>A uc001mao.1 - 1 477 c.422C>T c.(421-423)GCG>GTG p.A141V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACTCCTAACGCTATGACTCT 0.413 DCHS1 8642 broad.mit.edu 37 11 6662451 6662451 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:6662451G>A uc001mem.1 - 2 804 c.394C>T c.(394-396)CGA>TGA p.R132* NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 132 Cadherin 1.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAGCCACTCGCACTGTAACT 0.612 SBF2 81846 broad.mit.edu 37 11 9861197 9861197 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:9861197G>A uc001mib.2 - 26 3441 c.3303C>T c.(3301-3303)TCC>TCT p.S1101S SBF2_uc001mif.3_Silent_p.S857S|uc001mig.2_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1101 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TAGACTTCTCGGAGGCCTTCA 0.453 BTBD10 84280 broad.mit.edu 37 11 13435172 13435172 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:13435172C>T uc001mkz.2 - 6 970 c.713G>A c.(712-714)CGT>CAT p.R238H BTBD10_uc010rcl.1_Missense_Mutation_p.R246H|BTBD10_uc001mla.2_Missense_Mutation_p.R222H|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.R190H|BTBD10_uc010rcn.1_Missense_Mutation_p.R207H|BTBD10_uc009ygo.2_Missense_Mutation_p.R190H NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 238 BTB. nucleus 0 Epithelial(150;0.0214) ATCAGGACAACGGATTATTCC 0.338 NAV2 89797 broad.mit.edu 37 11 19735450 19735450 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:19735450C>T uc010rdm.1 + 1 570 c.209C>T c.(208-210)GCG>GTG p.A70V NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Missense_Mutation_p.A70V|LOC100126784_uc010rdl.1_3'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 70 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CAGGAGCCAGCGGGGGAGGGG 0.617 GAS2 2620 broad.mit.edu 37 11 22707287 22707287 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:22707287T>C uc009yie.2 + 3 525 c.219T>C c.(217-219)ACT>ACC p.T73T GAS2_uc001mqm.2_Silent_p.T73T|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Silent_p.T73T NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 73 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 TTGCAGAAACTATGCAGGAGA 0.378 MADD 8567 broad.mit.edu 37 11 47303960 47303960 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:47303960G>A uc001ner.1 + 9 1689 c.1498G>A c.(1498-1500)GCC>ACC p.A500T MADD_uc001neq.2_Missense_Mutation_p.A500T|MADD_uc001nev.1_Missense_Mutation_p.A500T|MADD_uc001nes.1_Missense_Mutation_p.A500T|MADD_uc001net.1_Missense_Mutation_p.A500T|MADD_uc009yln.1_Missense_Mutation_p.A500T|MADD_uc001neu.1_Missense_Mutation_p.A500T|MADD_uc001nex.2_Missense_Mutation_p.A500T|MADD_uc001nez.2_Missense_Mutation_p.A500T|MADD_uc001new.2_Missense_Mutation_p.A500T NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 500 dDENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CTTCAATTCCGCCAACGTGCT 0.522 OR5M9 390162 broad.mit.edu 37 11 56230191 56230191 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:56230191G>A uc010rjj.1 - 1 687 c.687C>T c.(685-687)GCC>GCT p.A229A NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) TCCTGCCATCGGCAGAGCGCA 0.502 OR9G4 283189 broad.mit.edu 37 11 56511005 56511005 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:56511005T>G uc010rjo.1 - 1 283 c.283A>C c.(283-285)AAA>CAA p.K95Q NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GCCAGGATTTTGGGGGTATAC 0.428 OR5A1 219982 broad.mit.edu 37 11 59211321 59211321 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:59211321C>T uc001nnx.1 + 1 680 c.680C>T c.(679-681)GCG>GTG p.A227V NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 ATAGTGTCTGCGGTCCTGAAG 0.532 AHNAK 79026 broad.mit.edu 37 11 62298947 62298947 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:62298947T>C uc001ntl.2 - 5 3242 c.2942A>G c.(2941-2943)GAT>GGT p.D981G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 981 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGCACTGACATCTACTTTTGG 0.458 SLC22A8 9376 broad.mit.edu 37 11 62760982 62760982 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:62760982G>A uc001nwo.2 - 10 1579 c.1443C>T c.(1441-1443)ACC>ACT p.T481T SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.T481T|SLC22A8_uc009yom.2_Silent_p.T358T|SLC22A8_uc010rmm.1_Silent_p.T390T|SLC22A8_uc009yon.2_Silent_p.T481T NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 481 Helical; (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 CGAGGAGGGCGGTGATCCCGT 0.577 KCNK4 50801 broad.mit.edu 37 11 64066960 64066960 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:64066960G>A uc001nzj.1 + 7 1267 c.944G>A c.(943-945)GGC>GAC p.G315D KCNK4_uc001nzk.1_Silent_p.G199G|KCNK4_uc010rnk.1_Missense_Mutation_p.G143D|KCNK4_uc001nzl.1_Silent_p.G199G|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.G315D|KCNK4_uc001nzo.2_Missense_Mutation_p.G315D|KCNK4_uc001nzp.1_Missense_Mutation_p.G201D|C11orf20_uc009ypm.2_5'Flank NM_033310 NP_201567 Q9NYG8 KCNK4_HUMAN TRAAK 315 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 CAGCCGCTGGGCAGGCCCCGA 0.617 MRPL49 740 broad.mit.edu 37 11 64893016 64893016 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:64893016G>A uc001oda.1 + 3 377 c.286G>A c.(286-288)GTC>ATC p.V96I MRPL49_uc001ocz.1_RNA NM_004927 NP_004918 Q13405 RM49_HUMAN mitochondrial ribosomal protein L49 96 translation mitochondrial ribosome protein binding|structural constituent of ribosome 0 CAACATCCCCGTCTACAAGGA 0.557 EHBP1L1 254102 broad.mit.edu 37 11 65347416 65347416 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:65347416G>A uc001oeo.3 + 4 533 c.268G>A c.(268-270)GTG>ATG p.V90M EHBP1L1_uc001oep.1_5'Flank NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 90 central_nervous_system(1) 1 GGACCCCCACGTGGACCAGTA 0.552 PCNXL3 399909 broad.mit.edu 37 11 65397039 65397039 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:65397039G>A uc001oey.2 + 26 4049 c.4049G>A c.(4048-4050)CGT>CAT p.R1350H PCNXL3_uc001oez.2_Missense_Mutation_p.R237H NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1350 integral to membrane 0 CACTTGACACGTTCGCTGCAG 0.567 SF3B2 10992 broad.mit.edu 37 11 65835515 65835515 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:65835515C>T uc001ogy.1 + 20 2469 c.2429C>T c.(2428-2430)ACG>ATG p.T810M PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 810 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 GACATGTCCACGGTGAGTACT 0.512 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PELI3 246330 broad.mit.edu 37 11 66238782 66238782 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:66238782G>A uc001oic.3 + 4 458 c.294G>A c.(292-294)TCG>TCA p.S98S PELI3_uc001oib.2_Silent_p.S98S|PELI3_uc001oid.3_Silent_p.S74S|PELI3_uc001oie.3_5'UTR|PELI3_uc010rpd.1_5'Flank NM_145065 NP_659502 Q8N2H9 PELI3_HUMAN pellino 3 alpha isoform 1 98 cytosol protein binding ovary(1) 1 GCCGCCGGTCGCACGCCAACG 0.627 MAP6 4135 broad.mit.edu 37 11 75298881 75298881 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:75298881T>C uc001owu.2 - 4 1730 c.1665A>G c.(1663-1665)GTA>GTG p.V555V NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 555 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) GAGACTCTGGTACCACAGAGC 0.502 AQP11 282679 broad.mit.edu 37 11 77301362 77301362 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:77301362C>T uc001oyj.2 + 1 683 c.325C>T c.(325-327)CTG>TTG p.L109L AQP11_uc009yuu.2_Intron NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN aquaporin 11 109 cell surface|integral to membrane transporter activity 0 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GCAGATGATGCTGGGGGGCAT 0.622 ODZ4 26011 broad.mit.edu 37 11 78369475 78369475 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:78369475G>A uc001ozl.3 - 34 8401 c.7938C>T c.(7936-7938)AAC>AAT p.N2646N ODZ4_uc001ozk.3_Silent_p.N871N|ODZ4_uc009yvb.1_Intron NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2646 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 ACACAGTGACGTTGACCCCAT 0.562 GRIA4 2893 broad.mit.edu 37 11 105781166 105781166 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:105781166T>C uc001pix.2 + 10 1610 c.1164T>C c.(1162-1164)GGT>GGC p.G388G GRIA4_uc001piu.1_Silent_p.G388G|GRIA4_uc001piw.2_Silent_p.G388G|GRIA4_uc009yxk.1_Silent_p.G388G NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 388 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GGCAGGTTGGTTACTGGAATG 0.358 NPAT 4863 broad.mit.edu 37 11 108032226 108032226 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:108032226C>T uc001pjz.3 - 17 3689 c.3587G>A c.(3586-3588)CGA>CAA p.R1196Q NPAT_uc010rvv.1_Missense_Mutation_p.R252Q NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1196 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TTTCTCACTTCGCAAACCCCC 0.368 PHLDB1 23187 broad.mit.edu 37 11 118516346 118516346 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:118516346T>C uc001ptr.1 + 17 3747 c.3394T>C c.(3394-3396)TGC>CGC p.C1132R PHLDB1_uc001pts.2_Missense_Mutation_p.C1132R|PHLDB1_uc001ptt.2_Missense_Mutation_p.C1085R|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.C947R|PHLDB1_uc001ptw.1_Missense_Mutation_p.C487R|PHLDB1_uc009zai.1_Missense_Mutation_p.C168R|PHLDB1_uc001ptx.1_Missense_Mutation_p.C168R|PHLDB1_uc010ryi.1_Missense_Mutation_p.C275R NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 1132 0 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) CAACTCGGCCTGCTCCCCTGA 0.642 MFRP 83552 broad.mit.edu 37 11 119212402 119212402 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:119212402G>A uc001pwj.2 - 13 1756 c.1596C>T c.(1594-1596)GGC>GGT p.G532G MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.G414G NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) GCAGAACACTGCCTAGTGGGG 0.647 PRDM10 56980 broad.mit.edu 37 11 129788598 129788598 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:129788598G>A uc001qfm.2 - 15 2294 c.2062C>T c.(2062-2064)CGG>TGG p.R688W PRDM10_uc001qfj.2_Missense_Mutation_p.R602W|PRDM10_uc001qfk.2_Missense_Mutation_p.R598W|PRDM10_uc001qfl.2_Missense_Mutation_p.R602W|PRDM10_uc010sbx.1_Missense_Mutation_p.R598W|PRDM10_uc001qfn.2_Missense_Mutation_p.R684W|PRDM10_uc009zcs.1_5'Flank NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 688 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) ATGTGTTCCCGTAGTTTGTCT 0.458 SNX19 399979 broad.mit.edu 37 11 130750601 130750601 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:130750601T>C uc001qgk.3 - 9 3222 c.2674A>G c.(2674-2676)AAG>GAG p.K892E SNX19_uc009zcw.2_Missense_Mutation_p.K129E|SNX19_uc010sce.1_Missense_Mutation_p.K272E|SNX19_uc010scf.1_Missense_Mutation_p.K335E|SNX19_uc010scg.1_Missense_Mutation_p.K129E NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 892 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CGTGGAAACTTAGGCAAAACT 0.537 NCAPD3 23310 broad.mit.edu 37 11 134047223 134047223 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:134047223C>T uc001qhd.1 - 23 3518 c.2912G>A c.(2911-2913)CGC>CAC p.R971H NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 971 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GATGGTGTAGCGAATGCAGAG 0.507 B4GALNT3 283358 broad.mit.edu 37 12 665815 665815 + Silent SNP C C T rs150429681 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:665815C>T uc001qii.1 + 15 2163 c.2163C>T c.(2161-2163)CGC>CGT p.R721R B4GALNT3_uc001qik.1_Silent_p.R270R NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 721 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) AAGGCCAGCGCGTGGTGCGGC 0.622 CACNA1C 775 broad.mit.edu 37 12 2659185 2659185 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:2659185C>T uc009zdu.1 + 10 1780 c.1467C>T c.(1465-1467)TGC>TGT p.C489C CACNA1C_uc009zdv.1_Silent_p.C486C|CACNA1C_uc001qkb.2_Silent_p.C489C|CACNA1C_uc001qkc.2_Silent_p.C489C|CACNA1C_uc001qke.2_Silent_p.C489C|CACNA1C_uc001qkf.2_Silent_p.C489C|CACNA1C_uc001qjz.2_Silent_p.C489C|CACNA1C_uc001qkd.2_Silent_p.C489C|CACNA1C_uc001qkg.2_Silent_p.C489C|CACNA1C_uc009zdw.1_Silent_p.C489C|CACNA1C_uc001qkh.2_Silent_p.C489C|CACNA1C_uc001qkl.2_Silent_p.C489C|CACNA1C_uc001qkn.2_Silent_p.C489C|CACNA1C_uc001qko.2_Silent_p.C489C|CACNA1C_uc001qkp.2_Silent_p.C489C|CACNA1C_uc001qkr.2_Silent_p.C489C|CACNA1C_uc001qku.2_Silent_p.C489C|CACNA1C_uc001qkq.2_Silent_p.C489C|CACNA1C_uc001qks.2_Silent_p.C489C|CACNA1C_uc001qkt.2_Silent_p.C489C|CACNA1C_uc001qka.1_Silent_p.C24C|CACNA1C_uc001qki.1_Silent_p.C225C|CACNA1C_uc001qkj.1_Silent_p.C225C|CACNA1C_uc001qkk.1_Silent_p.C225C|CACNA1C_uc001qkm.1_Silent_p.C225C|CACNA1C_uc009zdy.1_Silent_p.C114C|CACNA1C_uc001qkv.1_Silent_p.C59C NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 489 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAGAAAACTGCGGGGCCAGGC 0.597 KCNA5 3741 broad.mit.edu 37 12 5154231 5154231 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:5154231G>A uc001qni.2 + 1 1147 c.918G>A c.(916-918)CCG>CCA p.P306P NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 306 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TCATGGCCCCGCCCTCTGGCC 0.706 GPR162 27239 broad.mit.edu 37 12 6933561 6933561 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:6933561G>A uc001qqw.1 + 2 1032 c.497G>A c.(496-498)CGC>CAC p.R166H GPR162_uc010sfn.1_Missense_Mutation_p.R166H|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank NM_019858 NP_062832 Q16538 GP162_HUMAN G protein-coupled receptor 162 isoform 2 166 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TACTATGCCCGCGGCTGCCAG 0.587 A2M 2 broad.mit.edu 37 12 9243798 9243798 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:9243798C>T uc001qvk.1 - 19 2581 c.2468G>A c.(2467-2469)CGG>CAG p.R823Q A2M_uc009zgk.1_Missense_Mutation_p.R673Q NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 823 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) GATCCTTACCCGGATGCATTT 0.428 C12orf59 120939 broad.mit.edu 37 12 10339095 10339095 + Missense_Mutation SNP C C T rs143637558 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:10339095C>T uc001qxr.2 + 4 831 c.214C>T c.(214-216)CGC>TGC p.R72C C12orf59_uc001qxq.2_Missense_Mutation_p.R52C Q4KMG9 CL059_HUMAN RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor; 72 integral to membrane ovary(1) 1 CTGTCTGAGCCGCCAGCAAAA 0.582 ETV6 2120 broad.mit.edu 37 12 12022435 12022435 + Missense_Mutation SNP C C T rs149660037 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:12022435C>T uc001qzz.2 + 5 815 c.541C>T c.(541-543)CGC>TGC p.R181C ETV6_uc001raa.1_5'UTR NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 181 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) ACTGTTGCACCGCTCCAGGTC 0.602 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 GSG1 83445 broad.mit.edu 37 12 13256440 13256440 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:13256440C>T uc001rbn.2 - 1 180 c.7G>A c.(7-9)GAT>AAT p.D3N GSG1_uc001rbo.2_Missense_Mutation_p.D3N|GSG1_uc001rbp.2_Missense_Mutation_p.D3N|GSG1_uc001rbq.1_Missense_Mutation_p.D3N NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 Error:Variant_position_missing_in_Q2KHT4_after_alignment endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) TGAGAGGGATCGCTCATTCAC 0.428 PLBD1 79887 broad.mit.edu 37 12 14688687 14688687 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:14688687C>T uc001rcc.1 - 6 911 c.750G>A c.(748-750)ACG>ACA p.T250T NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 250 lipid catabolic process extracellular region hydrolase activity 0 TGGCTGCATACGTGTACCAGC 0.428 GUCY2C 2984 broad.mit.edu 37 12 14825885 14825885 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:14825885G>A uc001rcd.2 - 9 1229 c.1092C>T c.(1090-1092)GAC>GAT p.D364D NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 364 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TCACTGGACCGTCATACCCTA 0.448 RECQL 5965 broad.mit.edu 37 12 21639508 21639508 + Missense_Mutation SNP C C T rs138278747 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:21639508C>T uc001rex.2 - 6 754 c.406G>A c.(406-408)GTC>ATC p.V136I RECQL_uc001rey.2_Missense_Mutation_p.V136I NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 136 Helicase ATP-binding. DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 GGGCAAATGACGAGTGTAAAA 0.308 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function ARNTL2 56938 broad.mit.edu 37 12 27543174 27543174 + Splice_Site SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:27543174T>C uc001rht.1 + 9 937 c.919_splice c.e9+2 p.E307_splice ARNTL2_uc001rhw.2_Splice_Site_p.E270_splice|ARNTL2_uc010sjp.1_Splice_Site_p.E270_splice|ARNTL2_uc001rhu.1_Splice_Site_p.E293_splice|ARNTL2_uc009zji.1_Splice_Site_p.E273_splice|ARNTL2_uc001rhv.1_Splice_Site_p.E259_splice|uc001rhx.2_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) AGAAGAAAGGTATCATTTTGA 0.323 PTHLH 5744 broad.mit.edu 37 12 28116577 28116577 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:28116577C>T uc001rik.2 - 3 531 c.228G>A c.(226-228)TCG>TCA p.S76S PTHLH_uc001ril.2_Silent_p.S76S|PTHLH_uc001rim.2_Silent_p.S76S|PTHLH_uc001rin.2_Silent_p.S76S NM_198966 NP_945317 P12272 PTHR_HUMAN parathyroid hormone-like hormone isoform 1 76 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1) 1 Lung SC(9;0.184) GGGACACCTCCGAGGTAGCTC 0.507 CCDC91 55297 broad.mit.edu 37 12 28603309 28603309 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:28603309A>C uc001riq.2 + 9 898 c.882A>C c.(880-882)GAA>GAC p.E294D CCDC91_uc001rio.2_Missense_Mutation_p.E264D|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.E294D|CCDC91_uc001rir.2_Missense_Mutation_p.E132D|CCDC91_uc009zjl.2_Missense_Mutation_p.E96D NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN GGA binding partner 294 Potential.|Homodimerization. protein transport Golgi apparatus|membrane central_nervous_system(1) 1 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) GTTTGGAGGAAGAAAGGCAAA 0.328 BICD1 636 broad.mit.edu 37 12 32480566 32480566 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:32480566G>A uc001rku.2 + 5 1258 c.1177G>A c.(1177-1179)GGG>AGG p.G393R BICD1_uc001rkv.2_Missense_Mutation_p.G393R|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 393 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TGAGCTGGACGGGGAGAAGGG 0.582 HDAC7 51564 broad.mit.edu 37 12 48189159 48189159 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:48189159G>A uc010slo.1 - 11 1287 c.1092C>T c.(1090-1092)CCC>CCT p.P364P HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Silent_p.P327P|HDAC7_uc001rqk.3_Silent_p.P347P NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 isoform a 325 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|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 lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) GCCCAAGCCCGGGCACTGGAA 0.632 COL2A1 1280 broad.mit.edu 37 12 48379540 48379540 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:48379540G>A uc001rqu.2 - 25 1832 c.1651C>T c.(1651-1653)CCT>TCT p.P551S COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.P482S NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 551 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GGTTCTCCAGGACGGCCAGGG 0.647 FKBP11 51303 broad.mit.edu 37 12 49318420 49318420 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:49318420T>C uc001rsp.2 - 3 326 c.207A>G c.(205-207)GTA>GTG p.V69V FKBP11_uc010sma.1_5'UTR|FKBP11_uc001rsq.3_Silent_p.V69V|FKBP11_uc010smb.1_Silent_p.V69V NM_016594 NP_057678 Q9NYL4 FKB11_HUMAN FK506 binding protein 11 isoform 1 precursor 69 PPIase FKBP-type. protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 TACGTCCATCTACCAAGCTTC 0.572 OREG0021773 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NCKAP5L 57701 broad.mit.edu 37 12 50196893 50196893 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:50196893C>T uc009zlk.2 - 4 381 c.179G>A c.(178-180)CGC>CAC p.R60H NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 56 Potential. central_nervous_system(1) 1 GTCCAGACAGCGCTCATAAGT 0.612 KRT85 3891 broad.mit.edu 37 12 52754649 52754649 + Silent SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:52754649G>C uc001sag.2 - 9 1632 c.1512C>G c.(1510-1512)GTC>GTG p.V504V NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 504 Tail. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGGCAAAGCGGACCGACCGGC 0.612 KRT76 51350 broad.mit.edu 37 12 53170983 53170983 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:53170983G>A uc001sax.2 - 1 147 c.93C>T c.(91-93)AGC>AGT p.S31S NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 31 Head. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 GGGCCACACAGCTCATCCTGC 0.607 KRT8 3856 broad.mit.edu 37 12 53292586 53292586 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:53292586A>G uc001sbd.2 - 6 1182 c.1079T>C c.(1078-1080)CTG>CCG p.L360P KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.L388P|KRT8_uc009zml.1_Missense_Mutation_p.L360P|KRT8_uc009zmm.1_Missense_Mutation_p.L360P NM_002273 NP_002264 P05787 K2C8_HUMAN keratin 8 360 Necessary for interaction with PNN.|Rod.|Coil 2. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCCGCTGCAGGGCGGCCTC 0.637 DNAJC14 85406 broad.mit.edu 37 12 56216886 56216886 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:56216886A>G uc001shx.1 - 4 1806 c.1602T>C c.(1600-1602)ACT>ACC p.T534T DNAJC14_uc001shu.1_Silent_p.T534T|DNAJC14_uc009zob.1_Silent_p.T534T NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 534 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 TACACATCATAGTATTCATTG 0.438 LRP1 4035 broad.mit.edu 37 12 57556275 57556275 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:57556275G>A uc001snd.2 + 14 2844 c.2378G>A c.(2377-2379)CGA>CAA p.R793Q NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 793 Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.R793*(1) ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTTGAGATCCGAATGTATGAT 0.607 KIF5A 3798 broad.mit.edu 37 12 57963882 57963882 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:57963882G>A uc001sor.1 + 12 1438 c.1230G>A c.(1228-1230)GCG>GCA p.A410A KIF5A_uc010srr.1_Silent_p.A321A NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 410 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 TGCGCATCGCGCCCGAGGAGC 0.642 CTDSP2 10106 broad.mit.edu 37 12 58220861 58220861 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:58220861A>C uc001sqm.2 - 4 801 c.272T>G c.(271-273)CTC>CGC p.L91R CTDSP2_uc010ssg.1_5'Flank|CTDSP2_uc009zqf.2_5'UTR|CTDSP2_uc009zqg.2_Intron|uc001sqn.2_5'Flank|MIR26A2_hsa-mir-26a-2|MI0000750_5'Flank NM_005730 NP_005721 O14595 CTDS2_HUMAN nuclear LIM interactor-interacting factor 2 91 protein dephosphorylation nucleus|soluble fraction CTD phosphatase activity|metal ion binding central_nervous_system(1) 1 all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122) CACCTCTGGGAGCAGGCAGGT 0.493 BEST3 144453 broad.mit.edu 37 12 70091427 70091427 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:70091427C>A uc001svg.2 - 2 379 c.152G>T c.(151-153)AGA>ATA p.R51I BEST3_uc001svd.1_Missense_Mutation_p.R51I|BEST3_uc001sve.1_Intron|BEST3_uc010stm.1_Intron|BEST3_uc001svh.2_Intron|BEST3_uc001svi.1_Intron NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 51 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGAAAAGTACCTGTATACCAA 0.368 EPYC 1833 broad.mit.edu 37 12 91357958 91357958 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:91357958C>T uc001tbk.2 - 7 1037 c.944G>A c.(943-945)CGT>CAT p.R315H NM_004950 NP_004941 Q99645 EPYC_HUMAN dermatan sulfate proteoglycan 3 precursor 315 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding skin(1) 1 AACAGGCAGACGAGGTAGACA 0.383 DRAM1 55332 broad.mit.edu 37 12 102302024 102302024 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:102302024G>A uc001tix.2 + 4 866 c.403G>A c.(403-405)GTG>ATG p.V135M DRAM1_uc010svv.1_Intron NM_018370 NP_060840 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 135 Helical; (Potential). apoptosis|autophagy integral to membrane|lysosomal membrane ovary(1) 1 CTGTGGTGTCGTGTACACGCT 0.502 HSP90B1 7184 broad.mit.edu 37 12 104337021 104337021 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:104337021A>C uc001tkb.1 + 13 1919 c.1814A>C c.(1813-1815)AAG>ACG p.K605T HSP90B1_uc010swg.1_Missense_Mutation_p.K270T|HSP90B1_uc009zui.1_Intron NM_003299 NP_003290 P14625 ENPL_HUMAN heat shock protein 90kDa beta, member 1 605 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding ovary(2)|skin(1) 3 Rifabutin(DB00615) GAGAAAACTAAGGAGAGTCGT 0.423 KIAA1033 23325 broad.mit.edu 37 12 105514941 105514941 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:105514941T>C uc001tld.2 + 9 711 c.624T>C c.(622-624)GAT>GAC p.D208D KIAA1033_uc010swr.1_Silent_p.D208D|KIAA1033_uc010sws.1_Silent_p.D20D NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 208 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 AAATTATTGATAATCATATCA 0.313 SART3 9733 broad.mit.edu 37 12 108926011 108926011 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:108926011C>T uc001tmz.1 - 13 1891 c.1656G>A c.(1654-1656)ATG>ATA p.M552I SART3_uc001tmy.1_Missense_Mutation_p.M78I|SART3_uc009zux.1_Missense_Mutation_p.M164I|SART3_uc010swx.1_Missense_Mutation_p.M516I|SART3_uc010swy.1_Missense_Mutation_p.M438I|SART3_uc010swz.1_Missense_Mutation_p.M552I|SART3_uc001tna.1_RNA NM_014706 NP_055521 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T 552 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding pancreas(1) 1 CTGTCCTCTCCATGGTGAGTA 0.582 Porokeratosis ANKRD13A 88455 broad.mit.edu 37 12 110475232 110475232 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:110475232G>A uc001tpx.2 + 15 1905 c.1646G>A c.(1645-1647)CGT>CAT p.R549H ANKRD13A_uc010sxw.1_Missense_Mutation_p.R548H|ANKRD13A_uc001tpy.2_Missense_Mutation_p.R149H|ANKRD13A_uc001tpz.2_Missense_Mutation_p.R187H|ANKRD13A_uc001tqa.2_3'UTR NM_033121 NP_149112 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13 549 UIM 2. 0 GAGACAAGCCGTTTTGATAAT 0.577 SIRT4 23409 broad.mit.edu 37 12 120741725 120741725 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:120741725C>T uc001tyc.2 + 2 381 c.361C>T c.(361-363)CCT>TCT p.P121S NM_012240 NP_036372 Q9Y6E7 SIRT4_HUMAN sirtuin 4 121 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCCACCAGCCTAACCCTGC 0.577 MLXIP 22877 broad.mit.edu 37 12 122613694 122613694 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:122613694C>T uc001ubq.2 + 4 617 c.617C>T c.(616-618)ACG>ATG p.T206M MLXIP_uc001ubr.2_Translation_Start_Site|MLXIP_uc001ubs.1_5'Flank NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 206 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GCCATCACCACGGAAGGGAAG 0.507 PITPNM2 57605 broad.mit.edu 37 12 123497265 123497265 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:123497265C>T uc001uej.1 - 4 449 c.310G>A c.(310-312)GTG>ATG p.V104M PITPNM2_uc001uek.1_Missense_Mutation_p.V104M|PITPNM2_uc009zxu.1_Missense_Mutation_p.V104M|hsa-mir-4304|MI0015832_5'Flank NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 104 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) AATTTCTCCACGAAAGGACAG 0.517 RILPL1 353116 broad.mit.edu 37 12 123970232 123970232 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:123970232C>T uc001ufe.2 - 5 1158 c.922G>A c.(922-924)GAG>AAG p.E308K RILPL1_uc001ufd.2_Missense_Mutation_p.E157K|RILPL1_uc010tas.1_Missense_Mutation_p.E308K NM_178314 NP_847884 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 308 RILP-like. neuroprotection cytosol 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) GACTTGAGCTCGTTCCTCTCG 0.612 DNAH10 196385 broad.mit.edu 37 12 124358132 124358132 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:124358132C>A uc001uft.3 + 45 7484 c.7459C>A c.(7459-7461)CGC>AGC p.R2487S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2487 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTTCTCCTCCCGCACCACGTC 0.448 DNAH10 196385 broad.mit.edu 37 12 124413925 124413925 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:124413925C>T uc001uft.3 + 70 12081 c.12056C>T c.(12055-12057)CCG>CTG p.P4019L DNAH10_uc001ufu.3_5'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4019 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCCTTCAAGCCGCTGGTCTAC 0.527 DNAH10 196385 broad.mit.edu 37 12 124414289 124414289 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:124414289A>G uc001uft.3 + 71 12266 c.12241A>G c.(12241-12243)AAG>GAG p.K4081E DNAH10_uc001ufu.3_5'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4081 TPR 5. microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGGCAGCCTCAAGTACCTAAT 0.562 NCOR2 9612 broad.mit.edu 37 12 124862900 124862900 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:124862900T>C uc010tba.1 - 18 2167 c.2050A>G c.(2050-2052)AAG>GAG p.K684E NCOR2_uc010tay.1_Missense_Mutation_p.K684E|NCOR2_uc010taz.1_Missense_Mutation_p.K684E|NCOR2_uc010tbb.1_Missense_Mutation_p.K684E|NCOR2_uc010tbc.1_Missense_Mutation_p.K683E|NCOR2_uc001ugj.1_Missense_Mutation_p.K684E NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 684 Poly-Lys. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGCGCTTTCTTCTTCTTCCTC 0.662 NCOR2 9612 broad.mit.edu 37 12 124911228 124911228 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:124911228T>C uc010tba.1 - 11 1385 c.1268A>G c.(1267-1269)TAC>TGC p.Y423C NCOR2_uc010tay.1_Missense_Mutation_p.Y423C|NCOR2_uc010taz.1_Missense_Mutation_p.Y423C|NCOR2_uc010tbb.1_Missense_Mutation_p.Y423C|NCOR2_uc010tbc.1_Missense_Mutation_p.Y422C|NCOR2_uc001ugj.1_Missense_Mutation_p.Y423C|NCOR2_uc001ugk.1_Missense_Mutation_p.Y423C NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 423 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCGGTCTTTGTACACCTTCAT 0.607 EP400 57634 broad.mit.edu 37 12 132514266 132514266 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:132514266C>T uc001ujn.2 + 27 5437 c.5402C>T c.(5401-5403)CCG>CTG p.P1801L EP400_uc001ujl.2_Missense_Mutation_p.P1800L|EP400_uc001ujm.2_Missense_Mutation_p.P1720L|SNORA49_uc001ujo.2_5'Flank NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1837 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GTGATTCCTCCGGTGGTGGCA 0.632 TPTE2 93492 broad.mit.edu 37 13 20056687 20056687 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:20056687A>T uc001umd.2 - 5 331 c.120T>A c.(118-120)AGT>AGA p.S40R TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.S40R|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 40 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GTTCTAACATACTTTAGCCAC 0.313 FLT1 2321 broad.mit.edu 37 13 28877424 28877424 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:28877424G>A uc001usb.3 - 30 4182 c.3897C>T c.(3895-3897)CAC>CAT p.H1299H FLT1_uc010aap.2_Silent_p.H304H|FLT1_uc010aaq.2_Silent_p.H424H|FLT1_uc001usa.3_Silent_p.H517H NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1299 Cytoplasmic (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) CTTCGCTGACGTGCCCACAGC 0.552 KBTBD6 89890 broad.mit.edu 37 13 41705366 41705366 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:41705366T>C uc001uxu.1 - 1 1571 c.1282A>G c.(1282-1284)ATG>GTG p.M428V KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.M362V|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 428 Kelch 1. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GCCACATCCATGCCCTCACGA 0.478 RCBTB2 1102 broad.mit.edu 37 13 49089783 49089783 + Missense_Mutation SNP C C T rs146429069 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:49089783C>T uc001vch.2 - 5 508 c.137G>A c.(136-138)CGT>CAT p.R46H RCBTB2_uc010tgg.1_Missense_Mutation_p.R51H|RCBTB2_uc001vci.2_Missense_Mutation_p.R22H|RCBTB2_uc010tgh.1_5'UTR|RCBTB2_uc001vcj.2_Missense_Mutation_p.R50H|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Missense_Mutation_p.R22H NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 46 Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) ACAAGCCTGACGAATTAACTG 0.368 LMO7 4008 broad.mit.edu 37 13 76397791 76397791 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:76397791G>A uc001vjv.2 + 12 2792 c.2032G>A c.(2032-2034)GCA>ACA p.A678T LMO7_uc010thv.1_Missense_Mutation_p.A629T|LMO7_uc001vjt.1_Missense_Mutation_p.A577T|LMO7_uc010thw.1_Missense_Mutation_p.A528T|LMO7_uc001vjw.1_Missense_Mutation_p.A584T NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 963 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AAGCCCGGACGCAAGCCAACT 0.473 ERCC5 2073 broad.mit.edu 37 13 103459886 103459886 + Missense_Mutation SNP G G A rs145982160 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:103459886G>A uc001vpu.1 + 1 391 c.269G>A c.(268-270)CGC>CAC p.R90H BIVM_uc001vps.2_Missense_Mutation_p.R90H|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.R90H NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 127 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AATCCATCCCGCTCTCCTTGC 0.418 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum LIG4 3981 broad.mit.edu 37 13 108862197 108862197 + Nonsense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:108862197C>A uc001vqn.2 - 2 1693 c.1420G>T c.(1420-1422)GGA>TGA p.G474* LIG4_uc001vqo.2_Nonsense_Mutation_p.G474*|LIG4_uc010agg.1_Nonsense_Mutation_p.G407*|LIG4_uc010agf.2_Nonsense_Mutation_p.G474*|LIG4_uc001vqp.2_Nonsense_Mutation_p.G474* NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 474 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CCCCGTGATCCTTTACCCCAA 0.438 NHEJ SOX1 6656 broad.mit.edu 37 13 112722294 112722294 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:112722294C>T uc001vsb.1 + 1 382 c.322C>T c.(322-324)CGC>TGC p.R108C NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 108 HMG box. chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) CAAGCGGCTGCGCGCGCTGCA 0.587 GAS6 2621 broad.mit.edu 37 13 114535425 114535425 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:114535425G>A uc001vud.2 - 10 1143 c.990C>T c.(988-990)CCC>CCT p.P330P GAS6_uc001vug.2_Silent_p.P31P|GAS6_uc001vuf.2_Silent_p.P57P NM_000820 NP_000811 Q14393 GAS6_HUMAN growth arrest-specific 6 isoform 1 precursor 373 Laminin G-like 1. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4) 4 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GGATGCCCTCGGGGTCAAAGG 0.652 RNASE10 338879 broad.mit.edu 37 14 20978638 20978638 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:20978638T>C uc010tlj.1 + 1 8 c.8T>C c.(7-9)CTG>CCG p.L3P RNASE10_uc001vxp.2_Missense_Mutation_p.L31P NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 3 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) AAAATGAAGCTGAATCTGGTG 0.343 FLJ10357 55701 broad.mit.edu 37 14 21542131 21542131 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:21542131C>T uc001vzp.2 + 3 271 c.242C>T c.(241-243)CCG>CTG p.P81L FLJ10357_uc001vzn.1_Missense_Mutation_p.P81L|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 81 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) GAGGGGTGGCCGCTCTGCCTG 0.617 CHD8 57680 broad.mit.edu 37 14 21897334 21897334 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:21897334G>A uc001was.1 - 3 261 c.167C>T c.(166-168)GCC>GTC p.A56V CHD8_uc001war.1_5'UTR NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 335 Gln-rich. 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) TACTACCTTGGCAGGCTGCCC 0.562 TGM1 7051 broad.mit.edu 37 14 24730998 24730998 + Silent SNP G G A rs145002586 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:24730998G>A uc001wod.2 - 3 535 c.411C>T c.(409-411)GAC>GAT p.D137D TGM1_uc010tog.1_Intron NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 137 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CTATCAGCTCGTCGTACTCAT 0.577 DHRS1 115817 broad.mit.edu 37 14 24760357 24760357 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:24760357G>A uc001woj.1 - 8 1062 c.793C>T c.(793-795)CGG>TGG p.R265W DHRS1_uc010aln.1_RNA|DHRS1_uc001wok.2_Missense_Mutation_p.R265W NM_138452 NP_612461 Q96LJ7 DHRS1_HUMAN dehydrogenase/reductase (SDR family) member 1 265 endoplasmic reticulum binding|oxidoreductase activity 0 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) TCCACATCCCGAAGGCCATAG 0.607 BAZ1A 11177 broad.mit.edu 37 14 35272177 35272177 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:35272177C>T uc001wsk.2 - 7 1312 c.744G>A c.(742-744)ACG>ACA p.T248T BAZ1A_uc001wsl.2_Silent_p.T248T|BAZ1A_uc001wsm.1_Silent_p.T248T NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 248 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) CTATTTTATACGTTGAAAGAG 0.373 RPL10L 140801 broad.mit.edu 37 14 47120831 47120831 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:47120831C>T uc001wwg.2 - 1 198 c.109G>A c.(109-111)GGT>AGT p.G37S NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 37 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 TTCTTTCTACCCAGGTCAAAG 0.532 TRMT5 57570 broad.mit.edu 37 14 61446529 61446529 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:61446529C>T uc001xff.3 - 2 178 c.87G>A c.(85-87)TCG>TCA p.S29S SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank NM_020810 NP_065861 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 29 cytoplasm tRNA (guanine-N1-)-methyltransferase activity central_nervous_system(2)|large_intestine(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0873) CTGGAATCAACGATTTTGATT 0.363 SYT16 83851 broad.mit.edu 37 14 62551036 62551036 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:62551036G>A uc001xfu.1 + 5 1754 c.1557G>A c.(1555-1557)ACG>ACA p.T519T SYT16_uc010tse.1_Silent_p.T77T NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 519 C2 2. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ATGCCACAACGGGGCGATTAT 0.537 SYNE2 23224 broad.mit.edu 37 14 64688370 64688370 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:64688370C>T uc001xgm.2 + 111 20299 c.20069C>T c.(20068-20070)ACC>ATC p.T6690I SYNE2_uc001xgl.2_Missense_Mutation_p.T6713I|SYNE2_uc010apy.2_Missense_Mutation_p.T3075I|SYNE2_uc001xgn.2_Missense_Mutation_p.T1652I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.T660I|SYNE2_uc001xgq.2_Missense_Mutation_p.T1069I|SYNE2_uc001xgr.2_Missense_Mutation_p.T473I|SYNE2_uc010tsi.1_Missense_Mutation_p.T347I|SYNE2_uc001xgs.2_Missense_Mutation_p.T361I|SYNE2_uc001xgt.2_Missense_Mutation_p.T235I NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6690 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) GCTCATGTCACCGATCCAAAG 0.542 ESR2 2100 broad.mit.edu 37 14 64727249 64727249 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:64727249G>A uc001xha.1 - 5 1338 c.870C>T c.(868-870)ACC>ACT p.T290T ESR2_uc001xgu.2_Silent_p.T290T|ESR2_uc001xgv.2_Silent_p.T290T|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.T290T|ESR2_uc001xgy.1_Silent_p.T290T|ESR2_uc001xgz.1_Silent_p.T290T|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Silent_p.T290T|ESR2_uc010aqd.1_RNA NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 290 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) TGGAGGCCTCGGTGAAGGGCG 0.617 RDH11 51109 broad.mit.edu 37 14 68157059 68157059 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:68157059G>A uc001xjv.3 - 5 624 c.534C>T c.(532-534)CTC>CTT p.L178L RDH11_uc001xjw.3_Silent_p.L165L|RDH11_uc001xjx.3_Intron NM_016026 NP_057110 Q8TC12 RDH11_HUMAN retinol dehydrogenase 11 178 Cytoplasmic (Potential). retinol metabolic process|steroid metabolic process endoplasmic reticulum membrane|integral to membrane binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) GGTGATGTGCGAGGGAAGACA 0.478 DCAF5 8816 broad.mit.edu 37 14 69522046 69522046 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:69522046G>A uc001xkp.2 - 9 1576 c.1357C>T c.(1357-1359)CGC>TGC p.R453C DCAF5_uc001xkq.2_Missense_Mutation_p.R452C NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 453 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 TAGCCTGAGCGCTCGCTGACC 0.607 EXD2 55218 broad.mit.edu 37 14 69704633 69704633 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:69704633C>T uc001xkt.2 + 10 1918 c.1259C>T c.(1258-1260)GCC>GTC p.A420V EXD2_uc001xku.2_Missense_Mutation_p.A290V|EXD2_uc001xkv.2_Missense_Mutation_p.A545V|EXD2_uc001xkw.2_Missense_Mutation_p.A420V|EXD2_uc010aqt.2_Missense_Mutation_p.A545V|EXD2_uc010tte.1_Missense_Mutation_p.A545V|EXD2_uc001xky.2_Missense_Mutation_p.A420V NM_018199 NP_060669 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 420 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 CAAGAGGCTGCCAGCCTGGAG 0.527 GALNTL1 57452 broad.mit.edu 37 14 69795188 69795188 + Missense_Mutation SNP G G A rs61748871 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:69795188G>A uc010aqu.1 + 6 683 c.590G>A c.(589-591)CGT>CAT p.R197H GALNTL1_uc001xla.1_Missense_Mutation_p.R197H|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197H NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 197 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) TCCCGAGTGCGTGGGGCGGAC 0.632 PAPLN 89932 broad.mit.edu 37 14 73717688 73717688 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:73717688C>T uc010ttx.1 + 6 702 c.539C>T c.(538-540)ACG>ATG p.T180M PAPLN_uc001xnw.3_Missense_Mutation_p.T180M|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.T180M NM_173462 NP_775733 O95428 PPN_HUMAN papilin 180 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GGTGACGGCACGACCTGCTAC 0.642 C14orf43 91748 broad.mit.edu 37 14 74189532 74189532 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:74189532C>T uc001xot.2 - 10 3376 c.2593G>A c.(2593-2595)GCC>ACC p.A865T C14orf43_uc001xos.2_Missense_Mutation_p.A130T|C14orf43_uc001xou.2_Missense_Mutation_p.A865T|C14orf43_uc010tud.1_Missense_Mutation_p.A865T|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 865 SANT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) ACGCACTGGGCCACGGTCTTG 0.527 ABCD4 5826 broad.mit.edu 37 14 74756786 74756786 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:74756786C>T uc001xpr.2 - 13 1515 c.1363G>A c.(1363-1365)GGG>AGG p.G455R ABCD4_uc001xps.2_Missense_Mutation_p.G296R|ABCD4_uc001xpt.2_Missense_Mutation_p.G296R|ABCD4_uc010tur.1_Missense_Mutation_p.G351R NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 455 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) AATAGCACCCCATGGGGCCCA 0.587 OREG0022800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NGB 58157 broad.mit.edu 37 14 77737252 77737252 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:77737252C>T uc001xtg.1 - 1 404 c.29G>A c.(28-30)CGG>CAG p.R10Q NM_021257 NP_067080 Q9NPG2 NGB_HUMAN neuroglobin 10 Globin. hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0273) CCAGCTCTGCCGGATCAGCTC 0.751 TSHR 7253 broad.mit.edu 37 14 81610125 81610125 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:81610125G>A uc001xvd.1 + 10 1879 c.1723G>A c.(1723-1725)GAG>AAG p.E575K NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 575 Extracellular (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CATGGACACCGAGACCCCTCT 0.498 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism SLC24A4 123041 broad.mit.edu 37 14 92909751 92909751 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:92909751G>A uc001yak.2 + 7 563 c.539G>A c.(538-540)CGT>CAT p.R180H SLC24A4_uc001yai.2_Missense_Mutation_p.R133H|SLC24A4_uc010twm.1_Missense_Mutation_p.R197H|SLC24A4_uc001yaj.2_Missense_Mutation_p.R180H|SLC24A4_uc010auj.2_Missense_Mutation_p.R88H|SLC24A4_uc010twn.1_5'UTR NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 197 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CAGGTGGTCCGTCTGACGTGG 0.657 BTBD7 55727 broad.mit.edu 37 14 93717896 93717896 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:93717896C>T uc001ybo.2 - 8 2181 c.1855G>A c.(1855-1857)GTG>ATG p.V619M BTBD7_uc010aur.2_Missense_Mutation_p.V144M|BTBD7_uc010two.1_Missense_Mutation_p.V439M|BTBD7_uc001ybp.2_Missense_Mutation_p.V268M NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 619 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CACTGTGGCACGGCATTATTG 0.493 DICER1 23405 broad.mit.edu 37 14 95562462 95562462 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:95562462G>A uc001ydw.2 - 24 4977 c.4795C>T c.(4795-4797)CGG>TGG p.R1599W DICER1_uc010avh.1_Missense_Mutation_p.R497W|DICER1_uc001ydv.2_Missense_Mutation_p.R1589W|DICER1_uc001ydx.2_Missense_Mutation_p.R1599W|DICER1_uc001ydy.1_Missense_Mutation_p.R451W NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1599 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GCCTTTTCCCGATCAGTCCTT 0.537 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ BCL11B 64919 broad.mit.edu 37 14 99641154 99641154 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:99641154G>A uc001yga.2 - 4 2286 c.2019C>T c.(2017-2019)CCC>CCT p.P673P BCL11B_uc001ygb.2_Silent_p.P602P NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 673 nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCAGCGGCGCGGGCTTGCGCG 0.547 T TLX3 T-ALL CDC42BPB 9578 broad.mit.edu 37 14 103430911 103430911 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:103430911G>A uc001ymi.1 - 19 2886 c.2654C>T c.(2653-2655)GCG>GTG p.A885V CDC42BPB_uc001ymj.1_Missense_Mutation_p.A13V NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 885 Potential. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CCGGATCTCCGCCTCCAGGGC 0.632 CRIP2 1397 broad.mit.edu 37 14 105945820 105945820 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:105945820C>T uc001yrd.1 + 7 618 c.549C>T c.(547-549)TTC>TTT p.F183F CRIP2_uc010tyr.1_Silent_p.F257F|CRIP2_uc001yre.1_Silent_p.F255F|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA NM_001312 NP_001303 P52943 CRIP2_HUMAN cysteine-rich protein 2 183 Gly-rich. zinc ion binding 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) GAATCCTCTTCGGACCCAAGG 0.657 ATP10A 57194 broad.mit.edu 37 15 25958953 25958953 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:25958953G>A uc010ayu.2 - 10 2318 c.2212C>T c.(2212-2214)CAC>TAC p.H738Y NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 738 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CCCAGTGTGTGCAGGAGCTCG 0.607 RYR3 6263 broad.mit.edu 37 15 33835850 33835850 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:33835850G>A uc001zhi.2 + 8 744 c.674G>A c.(673-675)CGT>CAT p.R225H RYR3_uc010bar.2_Missense_Mutation_p.R225H NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 225 MIR 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CATGTAGTACGTCTTTTCCAT 0.393 CHRM5 1133 broad.mit.edu 37 15 34355212 34355212 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:34355212C>T uc001zhk.1 + 3 964 c.294C>T c.(292-294)CTC>CTT p.L98L CHRM5_uc001zhl.1_Silent_p.L98L NM_012125 NP_036257 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 98 Extracellular (By similarity). cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|central_nervous_system(1) 2 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GCTGGGCTCTCGGGAGTCTGG 0.502 AQR 9716 broad.mit.edu 37 15 35166929 35166929 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:35166929C>T uc001ziv.2 - 29 3555 c.3374G>A c.(3373-3375)CGC>CAC p.R1125H NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 1125 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) AACTCCAACGCGAACAAAGCG 0.428 CASC5 57082 broad.mit.edu 37 15 40915354 40915354 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:40915354C>T uc010bbs.1 + 11 3131 c.2970C>T c.(2968-2970)TAC>TAT p.Y990Y CASC5_uc010ucq.1_Silent_p.Y814Y|CASC5_uc001zme.2_Silent_p.Y964Y|CASC5_uc010bbt.1_Silent_p.Y964Y NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 990 2 X 104 AA approximate repeats. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TCATTGACTACCAAGAAAAGG 0.383 VPS39 23339 broad.mit.edu 37 15 42476844 42476844 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:42476844G>A uc001zpd.2 - 9 773 c.622C>T c.(622-624)CCC>TCC p.P208S VPS39_uc001zpc.2_Missense_Mutation_p.P197S NM_015289 NP_056104 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 208 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity p.A208T(1) ovary(1)|pancreas(1)|skin(1) 3 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) GCAACTAAGGGCTCCAGCTGT 0.517 TGM7 116179 broad.mit.edu 37 15 43568714 43568714 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:43568714T>C uc001zrf.1 - 13 2077 c.2072A>G c.(2071-2073)AAC>AGC p.N691S NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 691 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) CTTGACCTCGTTGCTGCTGAT 0.622 MYO5C 55930 broad.mit.edu 37 15 52553183 52553183 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:52553183C>T uc010bff.2 - 10 1326 c.1189G>A c.(1189-1191)GCC>ACC p.A397T MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_3'UTR NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 397 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) GCATCCCTGGCGTTGACAGCC 0.512 NARG2 79664 broad.mit.edu 37 15 60741590 60741590 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:60741590T>C uc002agp.2 - 10 1811 c.1576A>G c.(1576-1578)AAT>GAT p.N526D NARG2_uc002ago.2_Missense_Mutation_p.N389D|NARG2_uc002agq.3_Missense_Mutation_p.N194D NM_024611 NP_078887 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 isoform a 526 nucleus ovary(1)|lung(1) 2 TCATTTTTATTAGAAGTTTCA 0.323 VPS13C 54832 broad.mit.edu 37 15 62165447 62165447 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:62165447G>A uc002agz.2 - 78 10650 c.10576C>T c.(10576-10578)CGA>TGA p.R3526* VPS13C_uc002aha.2_Nonsense_Mutation_p.R3483*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.R3526*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.R3483* NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3526 protein localization ovary(2) 2 GAACTTACTCGCAGAAAGCCC 0.413 HERC1 8925 broad.mit.edu 37 15 63944642 63944642 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:63944642T>C uc002amp.2 - 52 10537 c.10389A>G c.(10387-10389)TCA>TCG p.S3463S NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3463 WD 4. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TCTGTTGCAGTGAATATTGCT 0.393 ZNF609 23060 broad.mit.edu 37 15 64967943 64967943 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:64967943C>T uc002ann.2 + 4 2890 c.2890C>T c.(2890-2892)CGT>TGT p.R964C NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 964 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CATCCAGCAGCGTCCCAATAT 0.522 IGDCC4 57722 broad.mit.edu 37 15 65684597 65684597 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:65684597C>T uc002aou.1 - 11 2207 c.1997G>A c.(1996-1998)CGG>CAG p.R666Q IGDCC4_uc002aot.1_Missense_Mutation_p.R254Q NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 666 Extracellular (Potential).|Fibronectin type-III 3. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 CCCCACCTCCCGCCAATATAG 0.622 TMEM202 338949 broad.mit.edu 37 15 72691047 72691047 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:72691047G>A uc002auq.2 + 2 135 c.135G>A c.(133-135)CAG>CAA p.Q45Q TMEM202_uc002aur.2_Intron NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 45 integral to membrane central_nervous_system(1)|skin(1) 2 GCCAAAGGCAGCAGCAGCTTA 0.512 STRA6 64220 broad.mit.edu 37 15 74481567 74481567 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:74481567C>T uc002axk.2 - 12 1161 c.979G>A c.(979-981)GCA>ACA p.A327T STRA6_uc002axi.2_Missense_Mutation_p.A136T|STRA6_uc010ulh.1_Missense_Mutation_p.A365T|STRA6_uc002axj.2_Missense_Mutation_p.A366T|STRA6_uc010bji.2_Missense_Mutation_p.A327T|STRA6_uc002axl.2_Missense_Mutation_p.A259T|STRA6_uc002axm.2_Missense_Mutation_p.A327T|STRA6_uc002axn.2_Missense_Mutation_p.A318T|STRA6_uc010uli.1_Missense_Mutation_p.A364T|STRA6_uc010bjj.1_RNA NM_022369 NP_071764 Q9BX79 STRA6_HUMAN stimulated by retinoic acid gene 6 homolog 327 Helical; (Potential). adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity central_nervous_system(1) 1 GTGACCCCTGCCCTCACCTTC 0.617 CYP11A1 1583 broad.mit.edu 37 15 74636145 74636145 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:74636145C>T uc002axt.2 - 4 969 c.814G>A c.(814-816)GTG>ATG p.V272M CYP11A1_uc002axs.2_Missense_Mutation_p.V114M|CYP11A1_uc010bjm.1_Missense_Mutation_p.V114M|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.V272M|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.V52M NM_000781 NP_000772 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, 272 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding ovary(2) 2 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CTGAAAATCACGTCCCATGCA 0.592 CYP1A1 1543 broad.mit.edu 37 15 75014057 75014057 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:75014057C>T uc002ayp.3 - 3 949 c.827G>A c.(826-828)GGC>GAC p.G276D CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.G12D|CYP1A1_uc010bjx.2_Missense_Mutation_p.G12D|CYP1A1_uc002ayq.3_Missense_Mutation_p.G276D|CYP1A1_uc010bjy.2_Missense_Mutation_p.G276D|CYP1A1_uc010bjz.1_Missense_Mutation_p.G12D NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 276 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CCGGATGTGGCCCTTAGGTAG 0.507 Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia CSK 1445 broad.mit.edu 37 15 75094810 75094810 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:75094810C>T uc010bkb.1 + 14 1492 c.1309C>T c.(1309-1311)CGA>TGA p.R437* CSK_uc002ays.2_Nonsense_Mutation_p.R437*|CSK_uc010bkc.1_Nonsense_Mutation_p.R246* NM_001127190 NP_001120662 P41240 CSK_HUMAN c-src tyrosine kinase 437 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding lung(2)|central_nervous_system(1) 3 CCTACAGCTCCGAGAGCAGCT 0.627 ADAMTS7 11173 broad.mit.edu 37 15 79083560 79083560 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:79083560A>G uc002bej.3 - 5 1036 c.825T>C c.(823-825)GCT>GCC p.A275A ADAMTS7_uc010und.1_Silent_p.A275A|ADAMTS7_uc002bek.1_Silent_p.A275A NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 275 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 GAAACAGGCCAGCCACCTGCC 0.602 KIAA1024 23251 broad.mit.edu 37 15 79749949 79749949 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:79749949G>A uc002bew.1 + 2 1535 c.1460G>A c.(1459-1461)TGC>TAC p.C487Y KIAA1024_uc010unk.1_Missense_Mutation_p.C487Y NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 487 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 CCCAAGAAATGCAGAGACCTG 0.532 ARNT2 9915 broad.mit.edu 37 15 80800575 80800575 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:80800575G>A uc002bfr.2 + 6 867 c.701G>A c.(700-702)CGG>CAG p.R234Q ARNT2_uc010unm.1_Missense_Mutation_p.R223Q|ARNT2_uc002bfs.2_Missense_Mutation_p.R223Q NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 234 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) ATGGGCTCGCGGCGGTCTTTC 0.542 AP3B2 8120 broad.mit.edu 37 15 83332368 83332368 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:83332368G>A uc010uoh.1 - 20 2561 c.2384C>T c.(2383-2385)CCC>CTC p.P795L AP3B2_uc010uoi.1_Missense_Mutation_p.P814L|AP3B2_uc010uoj.1_Missense_Mutation_p.P763L|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.P431L|AP3B2_uc002biy.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 795 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) TTTGCTGCTGGGAGGCTGAAA 0.522 WHAMM 123720 broad.mit.edu 37 15 83478511 83478511 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:83478511C>T uc002bje.2 + 1 539 c.33C>T c.(31-33)GGC>GGT p.G11G NM_001080435 NP_001073904 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi 11 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding 0 GCCTGGAGGGCTGGGTGCCGG 0.731 ZSCAN2 54993 broad.mit.edu 37 15 85147391 85147391 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:85147391G>A uc002bkr.2 + 2 459 c.233G>A c.(232-234)GGC>GAC p.G78D ZSCAN2_uc002bkp.2_Missense_Mutation_p.G78D|ZSCAN2_uc002bkq.2_Missense_Mutation_p.G78D|ZSCAN2_uc010bmz.1_Missense_Mutation_p.G77D|ZSCAN2_uc010bna.2_Intron|ZSCAN2_uc010uox.1_Missense_Mutation_p.G77D|ZSCAN2_uc010uoy.1_Missense_Mutation_p.G77D|ZSCAN2_uc010uoz.1_Missense_Mutation_p.G77D NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 78 SCAN box. cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) GGTGCACTCGGCCGCCTCCGA 0.632 HAPLN3 145864 broad.mit.edu 37 15 89422314 89422314 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:89422314A>G uc002bnc.2 - 4 808 c.680T>C c.(679-681)ATG>ACG p.M227T HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.M289T NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 227 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) CCGGGGCAACATGATGGGGTA 0.692 OREG0023445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RHCG 51458 broad.mit.edu 37 15 90023598 90023598 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:90023598G>A uc002bnz.2 - 4 588 c.564C>T c.(562-564)GGC>GGT p.G188G RHCG_uc002bny.2_5'Flank|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Silent_p.G72G NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 188 Helical; (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) CAAAGTAGGCGCCAAATGTGT 0.577 IQGAP1 8826 broad.mit.edu 37 15 91027453 91027453 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:91027453C>T uc002bpl.1 + 30 3891 c.3790C>T c.(3790-3792)CGG>TGG p.R1264W NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1264 C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TTATTTCAGACGGTTTTTCCA 0.428 MAN2A2 4122 broad.mit.edu 37 15 91462927 91462927 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:91462927G>A uc010bnz.2 + 23 3478 c.3363G>A c.(3361-3363)ACG>ACA p.T1121T MAN2A2_uc002bqc.2_Silent_p.T1121T|MAN2A2_uc010uql.1_Silent_p.T783T|MAN2A2_uc010uqm.1_Silent_p.T700T|MAN2A2_uc010uqn.1_RNA NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 1121 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCTCCTTGACGTTACTGTACC 0.567 CHD2 1106 broad.mit.edu 37 15 93489371 93489371 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:93489371A>G uc002bsp.2 + 12 1877 c.1302A>G c.(1300-1302)GGA>GGG p.G434G CHD2_uc002bsn.2_Silent_p.G434G|CHD2_uc002bso.1_Silent_p.G434G|CHD2_uc010urb.1_Silent_p.G447G|CHD2_uc010bof.1_RNA NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 434 Chromo 2. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCCTCATTGGAAAGAAATTCC 0.448 NR2F2 7026 broad.mit.edu 37 15 96877812 96877812 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:96877812C>T uc010uri.1 + 2 2174 c.950C>T c.(949-951)GCC>GTC p.A317V NR2F2_uc002btp.2_Missense_Mutation_p.A184V|NR2F2_uc010urj.1_Missense_Mutation_p.A164V|NR2F2_uc010urk.1_Missense_Mutation_p.A164V NM_021005 NP_066285 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 317 Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(1) 3 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) TGCCTCAAGGCCATAGTCCTG 0.602 TMEM8A 58986 broad.mit.edu 37 16 424092 424092 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:424092C>T uc002cgu.3 - 11 1944 c.1815G>A c.(1813-1815)ACG>ACA p.T605T TMEM8A_uc002cgv.3_Silent_p.T412T NM_021259 NP_067082 Q9HCN3 TMM8A_HUMAN transmembrane protein 8 (five membrane-spanning 605 Extracellular (Potential). cell adhesion integral to plasma membrane central_nervous_system(2)|pancreas(1) 3 AGTACTGCAGCGTGTCGTAGC 0.652 OREG0003702 type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay C16orf11 146325 broad.mit.edu 37 16 615240 615240 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:615240C>T uc002chk.2 + 3 1928 c.1649C>T c.(1648-1650)GCG>GTG p.A550V NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 550 central_nervous_system(1) 1 ACCTGTGTTGCGACGAGGAGT 0.672 RAB40C 57799 broad.mit.edu 37 16 668205 668205 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:668205C>T uc002chr.2 + 3 325 c.209C>T c.(208-210)ACG>ATG p.T70M RAB40C_uc002chq.2_Missense_Mutation_p.T70M NM_021168 NP_066991 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 70 GTP (By similarity). protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Hepatocellular(780;0.0218) TTCAGGGACACGTCGGGCCAG 0.612 NARFL 64428 broad.mit.edu 37 16 784277 784277 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:784277C>T uc002cjr.2 - 6 657 c.645G>A c.(643-645)CCG>CCA p.P215P NARFL_uc002cjp.2_Silent_p.P113P|NARFL_uc002cjq.2_Silent_p.P113P|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_3'UTR|NARFL_uc010uur.1_Missense_Mutation_p.R171H|NARFL_uc010uuq.1_5'Flank NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 215 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) TGACCTGCTGCGGGGACCGGG 0.662 PRR25 388199 broad.mit.edu 37 16 857626 857626 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:857626G>A uc010uut.1 + 2 623 c.623G>A c.(622-624)CGC>CAC p.R208H NM_001013638 NP_001013660 Q96S07 PRR25_HUMAN proline rich 25 208 large_intestine(1) 1 AAAGGGACCCGCCAGCGGATC 0.711 CACNA1H 8912 broad.mit.edu 37 16 1262003 1262003 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:1262003G>A uc002cks.2 + 25 4872 c.4624G>A c.(4624-4626)GTC>ATC p.V1542I CACNA1H_uc002ckt.2_Missense_Mutation_p.V1542I|CACNA1H_uc002cku.2_Missense_Mutation_p.V248I|CACNA1H_uc010brj.2_Missense_Mutation_p.V248I|CACNA1H_uc002ckv.2_Missense_Mutation_p.V248I NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1542 Helical; Name=S6 of repeat III; (Potential).|III. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTGCTCATCGTCAGCTTCTT 0.647 PTX4 390667 broad.mit.edu 37 16 1537330 1537330 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:1537330C>A uc010uvf.1 - 2 768 c.768G>T c.(766-768)CAG>CAT p.Q256H NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 261 extracellular region metal ion binding 0 CTCCTGGCACCTGGGGGGACC 0.607 MAPK8IP3 23162 broad.mit.edu 37 16 1810417 1810417 + Silent SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:1810417C>A uc002cmk.2 + 12 1458 c.1338C>A c.(1336-1338)GCC>GCA p.A446A MAPK8IP3_uc002cml.2_Silent_p.A440A|MAPK8IP3_uc010uvl.1_Silent_p.A447A NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 446 Potential. vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 ACCTGATTGCCAAGGTCGACC 0.562 ZNF598 90850 broad.mit.edu 37 16 2049537 2049537 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:2049537C>T uc002cof.1 - 11 2028 c.2013G>A c.(2011-2013)GCG>GCA p.A671A ZNF598_uc002coe.1_Silent_p.A35A NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 671 Pro-rich. intracellular zinc ion binding lung(1)|breast(1) 2 GGCCGCCGAGCGCTGGGAAGT 0.761 CREBBP 1387 broad.mit.edu 37 16 3843416 3843416 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:3843416G>A uc002cvv.2 - 4 1391 c.1187C>T c.(1186-1188)ACG>ATG p.T396M CREBBP_uc002cvw.2_Missense_Mutation_p.T396M NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 396 TAZ-type 1.|Interaction with SRCAP. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTGACAATGCGTCATGTGATT 0.488 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome HMOX2 3163 broad.mit.edu 37 16 4559660 4559660 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:4559660G>A uc010bts.2 + 6 1025 c.854G>A c.(853-855)CGA>CAA p.R285Q HMOX2_uc002cwr.3_Missense_Mutation_p.R285Q|HMOX2_uc002cwq.3_Missense_Mutation_p.R285Q|HMOX2_uc002cws.3_Missense_Mutation_p.R339Q|HMOX2_uc010btt.2_Missense_Mutation_p.R285Q|HMOX2_uc002cwt.2_Missense_Mutation_p.R285Q NM_001127206 NP_001120678 P30519 HMOX2_HUMAN heme oxygenase (decyclizing) 2 285 HRM 2. SCPFRTAM -> LSLPTSY (in Ref. 2; AAB22110). cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding 0 NADH(DB00157) TGTCCCTTCCGAACAGCTATG 0.612 GRIN2A 2903 broad.mit.edu 37 16 9858738 9858738 + Missense_Mutation SNP G G A rs149698593 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:9858738G>A uc002czo.3 - 13 3211 c.2663C>T c.(2662-2664)ACG>ATG p.T888M GRIN2A_uc010uym.1_Missense_Mutation_p.T888M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T731M|GRIN2A_uc002czr.3_Missense_Mutation_p.T888M NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 888 Cytoplasmic (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) CTGGGATCCCGTCAGATTGAA 0.468 RUNDC2A 84127 broad.mit.edu 37 16 12145844 12145844 + Missense_Mutation SNP G G A rs149490127 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:12145844G>A uc002dbw.1 + 8 951 c.889G>A c.(889-891)GAC>AAC p.D297N SNX29_uc002dby.3_5'Flank NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 297 ovary(1) 1 GGACAACTCCGACCGCTCCTC 0.498 T CIITA PMBL|Hodgkin Lymphona| SNX29 92017 broad.mit.edu 37 16 12662399 12662399 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:12662399G>A uc002dby.3 + 14 1256 c.1200G>A c.(1198-1200)CGG>CGA p.R400R NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 400 cell communication phosphatidylinositol binding ovary(1) 1 TGAACAGCCGGCCCAAAGCAG 0.622 DNAH3 55567 broad.mit.edu 37 16 20994156 20994156 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:20994156C>T uc010vbe.1 - 49 7746 c.7746G>A c.(7744-7746)TCG>TCA p.S2582S DNAH3_uc010vbd.1_Silent_p.S17S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2582 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AATTGATCAGCGAAGGGAACA 0.483 OTOA 146183 broad.mit.edu 37 16 21698928 21698928 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:21698928G>A uc002djh.2 + 7 595 c.594G>A c.(592-594)GAG>GAA p.E198E uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.E119E NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 198 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) ACATCACAGAGCGGCTCCCTC 0.473 USP31 57478 broad.mit.edu 37 16 23080178 23080178 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:23080178C>T uc002dll.2 - 16 3248 c.3248G>A c.(3247-3249)GGC>GAC p.G1083D USP31_uc002dlk.2_Missense_Mutation_p.G355D|USP31_uc010vca.1_Missense_Mutation_p.G386D|USP31_uc010bxm.2_Missense_Mutation_p.G371D NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1083 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) CCGTCCACTGCCCCTGGAAGA 0.542 TNRC6A 27327 broad.mit.edu 37 16 24806025 24806025 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:24806025G>T uc002dmm.2 + 8 3627 c.3513G>T c.(3511-3513)AAG>AAT p.K1171N TNRC6A_uc010bxs.2_Missense_Mutation_p.K918N|TNRC6A_uc010vcc.1_Missense_Mutation_p.K918N|TNRC6A_uc002dmn.2_Missense_Mutation_p.K918N|TNRC6A_uc002dmo.2_Missense_Mutation_p.K859N NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1171 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) CATATACAAAGAAAATGTCAT 0.393 AQP8 343 broad.mit.edu 37 16 25228757 25228757 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:25228757G>A uc002doc.2 + 2 333 c.251G>A c.(250-252)GGG>GAG p.G84E NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 84 Extracellular (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) GCCACGCTGGGGAATATCAGG 0.617 GTF3C1 2975 broad.mit.edu 37 16 27473769 27473769 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:27473769C>T uc002dov.1 - 36 6003 c.5963G>A c.(5962-5964)CGT>CAT p.R1988H GTF3C1_uc002dou.2_Missense_Mutation_p.R1963H NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1988 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 ATCCACGACACGCCACGGCCG 0.622 MAZ 4150 broad.mit.edu 37 16 29819074 29819074 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:29819074G>A uc002dty.2 + 2 1136 c.968G>A c.(967-969)AGC>AAC p.S323N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Missense_Mutation_p.S300N|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Missense_Mutation_p.S323N|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Missense_Mutation_p.S41N|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 323 C2H2-type 3. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 GACCGCATGAGCTACCACGTG 0.647 MVP 9961 broad.mit.edu 37 16 29853161 29853161 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:29853161G>T uc002dui.2 + 9 1520 c.1436G>T c.(1435-1437)CGC>CTC p.R479L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.1_RNA|MVP_uc002duj.2_Missense_Mutation_p.R479L|MVP_uc010vea.1_Missense_Mutation_p.R73L NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 479 MVP 9. mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 AAGCGAGCCCGGTGAGTGCTG 0.667 TAOK2 9344 broad.mit.edu 37 16 30002182 30002182 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:30002182C>T uc002dvc.1 + 18 3306 c.2523C>T c.(2521-2523)AAC>AAT p.N841N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_004783 NP_004774 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 AGCTGCTCAACGCTTACCAGA 0.622 C16orf58 64755 broad.mit.edu 37 16 31504963 31504963 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:31504963C>T uc002eci.1 - 8 931 c.919G>A c.(919-921)GAC>AAC p.D307N C16orf58_uc002ech.1_5'UTR|C16orf58_uc010vfq.1_Missense_Mutation_p.D165N NM_022744 NP_073581 Q96GQ5 CP058_HUMAN hypothetical protein LOC64755 307 integral to membrane ovary(1)|breast(1) 2 GCAGTTGGGTCGAGTACCTCT 0.637 ADCY7 113 broad.mit.edu 37 16 50338359 50338359 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:50338359G>A uc002egd.1 + 10 1725 c.1457G>A c.(1456-1458)CGG>CAG p.R486Q ADCY7_uc002egb.1_Missense_Mutation_p.R486Q|ADCY7_uc002egc.1_Missense_Mutation_p.R486Q NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 486 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CGCATGACCCGGTACCTCGAG 0.701 IRX6 79190 broad.mit.edu 37 16 55362691 55362691 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:55362691G>T uc002ehy.2 + 5 1334 c.801G>T c.(799-801)GAG>GAT p.E267D IRX6_uc002ehx.2_Missense_Mutation_p.E267D NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 267 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 aggaggaggaggaagctgaag 0.502 NUP93 9688 broad.mit.edu 37 16 56782290 56782290 + Missense_Mutation SNP G G A rs146068835 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:56782290G>A uc002eka.2 + 2 252 c.131G>A c.(130-132)CGT>CAT p.R44H NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 44 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 GAGCGCCTGCGTTCCCGTACC 0.587 CDH16 1014 broad.mit.edu 37 16 66946576 66946576 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:66946576C>T uc002eql.2 - 10 1346 c.1273G>A c.(1273-1275)GCA>ACA p.A425T CDH16_uc010cdy.2_Missense_Mutation_p.A425T|CDH16_uc002eqm.2_Missense_Mutation_p.A328T NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 425 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCACCCTCTGCGCCTGCCAGG 0.642 FHOD1 29109 broad.mit.edu 37 16 67271561 67271561 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:67271561G>A uc002esl.2 - 7 865 c.753C>T c.(751-753)ACC>ACT p.T251T FHOD1_uc010ced.2_Silent_p.T58T|FHOD1_uc010vjh.1_5'UTR NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 251 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GTCTCTGACCGGTGGTGCTGG 0.572 FAM65A 79567 broad.mit.edu 37 16 67575405 67575405 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:67575405G>A uc010vjp.1 + 11 1030 c.934G>A c.(934-936)GCC>ACC p.A312T FAM65A_uc010cei.1_Missense_Mutation_p.A134T|FAM65A_uc002eth.2_Missense_Mutation_p.A292T|FAM65A_uc010cej.2_Missense_Mutation_p.A295T|FAM65A_uc002eti.1_Missense_Mutation_p.A255T|FAM65A_uc010vjq.1_Missense_Mutation_p.A306T|FAM65A_uc002etj.1_Missense_Mutation_p.A291T|FAM65A_uc002etk.2_Missense_Mutation_p.A291T NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 296 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) GGACCTGTTTGCCGCCCTGCC 0.567 RLTPR 146206 broad.mit.edu 37 16 67683831 67683831 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:67683831A>G uc002etn.2 + 21 2162 c.2042A>G c.(2041-2043)CAG>CGG p.Q681R RLTPR_uc010cel.1_Missense_Mutation_p.Q674R|RLTPR_uc010vjr.1_Missense_Mutation_p.Q645R NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 681 LRR 16. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GCCCAGGCGCAGCGCAGCCGC 0.647 CDH1 999 broad.mit.edu 37 16 68844111 68844111 + Silent SNP C C T rs115494727 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:68844111C>T uc002ewg.1 + 6 823 c.699C>T c.(697-699)CAC>CAT p.H233H CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.H233H NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 233 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2)|p.H233Q(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TCTTCTCTCACGCTGTGTCAT 0.527 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer COG8 84342 broad.mit.edu 37 16 69368569 69368569 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:69368569A>G uc002ewy.2 - 3 1339 c.1268T>C c.(1267-1269)CTG>CCG p.L423P COG8_uc002ewz.3_Missense_Mutation_p.L423P NM_032382 NP_115758 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 423 protein transport Golgi membrane|Golgi transport complex ovary(1) 1 GGGTGGCTGCAGCGTCCCCGG 0.582 TERF2 7014 broad.mit.edu 37 16 69400708 69400708 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:69400708A>G uc002exd.2 - 7 1339 c.1214_splice c.e7+1 p.K405_splice NM_005652 NP_005643 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity lung(1) 1 Ovarian(137;0.101) AGGTCTTCATACTTGGGATTC 0.537 NFAT5 10725 broad.mit.edu 37 16 69726958 69726958 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:69726958A>T uc002exm.1 + 12 4384 c.3176A>T c.(3175-3177)AAT>ATT p.N1059I NFAT5_uc002exi.2_Missense_Mutation_p.N983I|NFAT5_uc002exj.1_Missense_Mutation_p.N983I|NFAT5_uc002exk.1_Missense_Mutation_p.N983I|NFAT5_uc002exl.1_Missense_Mutation_p.N1077I|NFAT5_uc002exn.1_Missense_Mutation_p.N1076I|NFAT5_uc002exo.1_RNA NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 1059 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CAATCTGGAAATTTTTTGCAG 0.413 GAN 8139 broad.mit.edu 37 16 81390507 81390507 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:81390507A>G uc002fgo.2 + 4 899 c.751A>G c.(751-753)ATA>GTA p.I251V NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 251 cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) GTGTAGCAATATACCGCTCAG 0.507 CMIP 80790 broad.mit.edu 37 16 81712153 81712153 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:81712153C>T uc002fgp.2 + 10 1380 c.1308C>T c.(1306-1308)CCC>CCT p.P436P CMIP_uc002fgq.1_Silent_p.P342P|CMIP_uc010vnq.1_Silent_p.P249P|CMIP_uc002fgr.1_Silent_p.P283P NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 402 cytoplasm|nucleus 0 TGGTCAGCCCCGCCTGCAGCA 0.617 SLC38A8 146167 broad.mit.edu 37 16 84050849 84050849 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:84050849G>A uc002fhg.1 - 7 849 c.849C>T c.(847-849)GAC>GAT p.D283D NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 283 amino acid transport|sodium ion transport integral to membrane 0 ACATCAAGACGTCAGCAGAAA 0.517 TSR1 55720 broad.mit.edu 37 17 2237832 2237832 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:2237832G>A uc002fuj.2 - 5 1872 c.915C>T c.(913-915)CCC>CCT p.P305P SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation 305 ribosome assembly nucleolus protein binding ovary(1) 1 AAGGGTCTCCGGGGGCATCTA 0.418 MYBBP1A 10514 broad.mit.edu 37 17 4453567 4453567 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:4453567G>A uc002fyb.3 - 9 1167 c.1105C>T c.(1105-1107)CGG>TGG p.R369W MYBBP1A_uc002fxz.3_Missense_Mutation_p.R369W NM_014520 NP_055335 Q9BQG0 MBB1A_HUMAN MYB binding protein 1a isoform 2 369 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding ovary(1)|skin(1) 2 GCCAGCTGCCGCTCAGGGTCA 0.607 GPR172B 55065 broad.mit.edu 37 17 4936399 4936399 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:4936399C>T uc002gap.3 - 5 1913 c.1200G>A c.(1198-1200)CTG>CTA p.L400L GPR172B_uc002gao.3_Silent_p.L400L|GPR172B_uc010ckw.2_Silent_p.L278L|GPR172B_uc010ckx.2_3'UTR NM_001104577 NP_001098047 Q9NWF4 RFT_HUMAN G protein-coupled receptor 172B precursor 400 integral to plasma membrane receptor activity|riboflavin transporter activity 0 CCCCACCATGCAGCAGGGAGC 0.617 NLRP1 22861 broad.mit.edu 37 17 5442750 5442750 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:5442750T>C uc002gci.2 - 7 3410 c.2855A>G c.(2854-2856)AAA>AGA p.K952R NLRP1_uc002gcg.1_Missense_Mutation_p.K952R|NLRP1_uc002gck.2_Missense_Mutation_p.K952R|NLRP1_uc002gcj.2_Missense_Mutation_p.K952R|NLRP1_uc002gcl.2_Missense_Mutation_p.K952R|NLRP1_uc002gch.3_Missense_Mutation_p.K952R|NLRP1_uc010clh.2_Missense_Mutation_p.K952R NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 952 LRR 6. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GCGTATGAGTTTGCAGGCAGG 0.557 WSCD1 23302 broad.mit.edu 37 17 6023723 6023723 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:6023723C>T uc010cli.2 + 9 1849 c.1470C>T c.(1468-1470)TAC>TAT p.Y490Y WSCD1_uc002gcn.2_Silent_p.Y490Y|WSCD1_uc002gco.2_Silent_p.Y490Y|WSCD1_uc010clj.2_Silent_p.Y181Y NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 490 integral to membrane sulfotransferase activity 0 TGGTGCACTACGAGGAGCTGC 0.627 CLEC10A 10462 broad.mit.edu 37 17 6978442 6978442 + Silent SNP G G A rs139844327 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:6978442G>A uc002gek.2 - 9 1185 c.882C>T c.(880-882)GAC>GAT p.D294D CLEC10A_uc002gej.2_Silent_p.D270D|CLEC10A_uc002gel.2_Silent_p.D267D|CLEC10A_uc010clv.1_3'UTR NM_182906 NP_878910 Q8IUN9 CLC10_HUMAN C-type lectin, superfamily member 14 isoform 1 294 C-type lectin.|Extracellular (Potential). endocytosis|innate immune response integral to membrane|plasma membrane sugar binding 0 TCTGGCAGACGTCGTCATTCC 0.657 MYH10 4628 broad.mit.edu 37 17 8380246 8380246 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:8380246C>T uc002gll.2 - 40 5830 c.5734G>A c.(5734-5736)GAG>AAG p.E1912K MYH10_uc002glm.2_Missense_Mutation_p.E1943K|MYH10_uc010cnx.2_Missense_Mutation_p.E1921K NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1912 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TCGTTGGCCTCGGTGGCATCA 0.617 MYH2 4620 broad.mit.edu 37 17 10429940 10429940 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:10429940C>T uc010coi.2 - 30 4291 c.4163G>A c.(4162-4164)CGC>CAC p.R1388H uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1388H|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1388 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1388H(1) ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTCCTCTGTGCGCTGGATGGC 0.512 NCOR1 9611 broad.mit.edu 37 17 16024467 16024467 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:16024467C>T uc002gpo.2 - 16 1991 c.1751G>A c.(1750-1752)CGG>CAG p.R584Q NCOR1_uc002gpn.2_Missense_Mutation_p.R584Q|NCOR1_uc002gpp.1_Missense_Mutation_p.R475Q|NCOR1_uc002gpr.2_Missense_Mutation_p.R475Q NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 584 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CCTGGTGATCCGGCCCTTACG 0.607 RAI1 10743 broad.mit.edu 37 17 17701303 17701303 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:17701303A>G uc002grm.2 + 3 5510 c.5041A>G c.(5041-5043)AGT>GGT p.S1681G RAI1_uc002grn.1_Missense_Mutation_p.S1681G NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1681 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CAAGGCCCTGAGTACCTCTTG 0.627 SREBF1 6720 broad.mit.edu 37 17 17722871 17722871 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:17722871G>A uc002gru.1 - 3 886 c.692C>T c.(691-693)TCG>TTG p.S231L SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Missense_Mutation_p.S207L|SREBF1_uc002grt.1_Missense_Mutation_p.S261L|SREBF1_uc010cpp.1_Missense_Mutation_p.S207L|SREBF1_uc010cpq.1_Missense_Mutation_p.S231L NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 231 Cytoplasmic (Potential). 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 CTGGATCTGCGAGGTCACAGT 0.667 MYO15A 51168 broad.mit.edu 37 17 18023440 18023440 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:18023440C>T uc010vxh.1 + 2 1664 c.1326C>T c.(1324-1326)GGC>GGT p.G442G NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 442 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) AGGACGCGGGCGTAGAGCGTC 0.657 FBXW10 10517 broad.mit.edu 37 17 18673378 18673378 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:18673378C>T uc002guk.2 + 11 2218 c.1986C>T c.(1984-1986)TCC>TCT p.S662S FBXW10_uc002guj.2_Silent_p.S662S|FBXW10_uc002gul.2_Silent_p.S691S|FBXW10_uc010cqh.1_Intron NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 662 ovary(1) 1 CTGTGCTGTCCTTCTTTATTC 0.473 EPN2 22905 broad.mit.edu 37 17 19186802 19186802 + Missense_Mutation SNP C C T rs139687943 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:19186802C>T uc002gvd.3 + 3 818 c.370C>T c.(370-372)CGT>TGT p.R124C EPN2_uc002gvc.2_Missense_Mutation_p.R124C|EPN2_uc010vyn.1_Missense_Mutation_p.R124C|EPN2_uc010cql.1_Intron|EPN2_uc002gve.3_Missense_Mutation_p.R124C|EPN2_uc002gvf.3_Intron|EPN2_uc010vyo.1_Intron|EPN2_uc002gvg.1_Missense_Mutation_p.R124C|EPN2_uc010vyp.1_Missense_Mutation_p.R124C|EPN2_uc010vyq.1_Missense_Mutation_p.R124C|EPN2_uc002gvh.1_Missense_Mutation_p.R124C NM_014964 NP_055779 O95208 EPN2_HUMAN epsin 2 isoform b 124 ENTH. endocytosis lipid binding skin(1) 1 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) CATCAATGTGCGTGAGAAGTC 0.572 WSB1 26118 broad.mit.edu 37 17 25630636 25630636 + Silent SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:25630636T>A uc002gzd.1 + 3 769 c.453T>A c.(451-453)CGT>CGA p.R151R WSB1_uc010vzy.1_Silent_p.R151R|WSB1_uc010vzz.1_Silent_p.R120R|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA NM_015626 NP_056441 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box-containing 1 isoform 1 151 WD 2. intracellular signal transduction intracellular protein binding 0 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) ACAATGGGCGTATCAAAATAT 0.388 PIGS 94005 broad.mit.edu 37 17 26881438 26881438 + Missense_Mutation SNP C C T rs61755367 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:26881438C>T uc002hbo.2 - 12 1841 c.1468G>A c.(1468-1470)GCC>ACC p.A490T UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Missense_Mutation_p.A482T|PIGS_uc010wap.1_Missense_Mutation_p.A429T NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 490 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) TCCTGGCTGGCGACAAAGGCA 0.547 NEK8 284086 broad.mit.edu 37 17 27067956 27067956 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:27067956C>A uc002hcp.2 + 12 1685 c.1685C>A c.(1684-1686)CCT>CAT p.P562H NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 562 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) GACCAGGAGCCTCTGCTGAGT 0.627 SLC6A4 6532 broad.mit.edu 37 17 28536212 28536212 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:28536212C>T uc002hey.3 - 12 2042 c.1498G>A c.(1498-1500)GCA>ACA p.A500T SLC6A4_uc010csg.2_Intron NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 500 Helical; Name=10; (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) GTGAGCACTGCGGGCCCCGTG 0.632 EVI2A 2123 broad.mit.edu 37 17 29645465 29645465 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:29645465C>T uc002hgm.2 - 2 782 c.567G>A c.(565-567)TGG>TGA p.W189* NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Nonsense_Mutation_p.W212* NM_014210 NP_055025 P22794 EVI2A_HUMAN ecotropic viral integration site 2A isoform 2 189 Cytoplasmic (Potential). integral to membrane transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) ATTCAGCGGGCCATAGACCGC 0.473 RASL10B 91608 broad.mit.edu 37 17 34068069 34068069 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:34068069A>G uc002hju.2 + 4 723 c.357A>G c.(355-357)TCA>TCG p.S119S NM_033315 NP_201572 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B precursor 119 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity lung(2)|breast(2) 4 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCGGAACCTCAGAGACGCCCA 0.637 GPR179 440435 broad.mit.edu 37 17 36489178 36489178 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:36489178C>T uc002hpz.2 - 10 2014 c.1993G>A c.(1993-1995)GCC>ACC p.A665T NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 665 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CAGGCTGAGGCGATGCTGCTG 0.612 KRT24 192666 broad.mit.edu 37 17 38855782 38855782 + Silent SNP G G A rs139679856 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:38855782G>A uc002hvd.2 - 6 1332 c.1275C>T c.(1273-1275)AAC>AAT p.N425N NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 425 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) TGTACTCTGCGTTCTGGCATT 0.547 KRT23 25984 broad.mit.edu 37 17 39092491 39092491 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:39092491T>C uc002hvm.1 - 2 954 c.365A>G c.(364-366)TAT>TGT p.Y122C KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.Y122C|KRT23_uc002hvn.1_Missense_Mutation_p.Y122C NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 122 Rod.|Linker 1. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) GTTTTCCTCATACTGGGAATA 0.542 KRT23 25984 broad.mit.edu 37 17 39092616 39092616 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:39092616G>A uc002hvm.1 - 2 829 c.240C>T c.(238-240)AAC>AAT p.N80N KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.N80N|KRT23_uc002hvn.1_Silent_p.N80N NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 80 Rod.|Coil 1A. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) CCAGGCGGTCGTTGAGATTCT 0.612 KRT32 3882 broad.mit.edu 37 17 39622145 39622145 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:39622145C>T uc002hwr.2 - 3 649 c.588G>A c.(586-588)GAG>GAA p.E196E NM_002278 NP_002269 Q14532 K1H2_HUMAN keratin 32 196 Rod.|Coil 1B. epidermis development intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000812) TGATGTCGGCCTCCACCAGCT 0.587 KRT14 3861 broad.mit.edu 37 17 39740077 39740077 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:39740077G>A uc002hxf.1 - 4 923 c.862C>T c.(862-864)CGT>TGT p.R288C JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.R288C NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 288 Rod.|Coil 2. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) TACTGGTCACGCATCTCGTTC 0.557 HSD17B1 3292 broad.mit.edu 37 17 40705214 40705214 + Missense_Mutation SNP C C T rs61738807 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:40705214C>T uc002hzw.2 + 2 1138 c.170C>T c.(169-171)CCG>CTG p.P57L HSD17B1_uc002hzx.2_Missense_Mutation_p.P57L|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Missense_Mutation_p.G123R|HSD17B1_uc010cyi.2_Missense_Mutation_p.P88L NM_000413 NP_000404 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 57 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity 0 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) GCATGCCCTCCGGGATCCCTG 0.652 AOC2 314 broad.mit.edu 37 17 40997145 40997145 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:40997145C>A uc002ibu.2 + 1 537 c.502C>A c.(502-504)CTG>ATG p.L168M AOC2_uc002ibt.2_Missense_Mutation_p.L168M NM_009590 NP_033720 O75106 AOC2_HUMAN amine oxidase, copper containing 2 isoform b 168 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity ovary(2) 2 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) TCGCCCGGTGCTGAGAGCTGA 0.607 ETV4 2118 broad.mit.edu 37 17 41606543 41606543 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:41606543C>T uc002idw.2 - 12 1318 c.1190G>A c.(1189-1191)CGC>CAC p.R397H ETV4_uc002idv.2_Missense_Mutation_p.R120H|ETV4_uc010wih.1_Missense_Mutation_p.R343H|ETV4_uc010czh.2_Missense_Mutation_p.R396H|ETV4_uc010wii.1_Missense_Mutation_p.R358H|ETV4_uc002idx.2_Missense_Mutation_p.R397H|ETV4_uc010wij.1_Missense_Mutation_p.R358H NM_001986 NP_001977 P43268 ETV4_HUMAN ets variant gene 4 (E1A enhancer binding 397 ETS. positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6) bone(4)|soft_tissue(2)|ovary(1) 7 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) TCGGAGCGAGCGGCTCAGCTT 0.562 T EWSR1|TMPRSS2|DDX5|KLK2|CANT1 Ewing sarcoma|Prostate carcinoma GPATCH8 23131 broad.mit.edu 37 17 42475981 42475981 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:42475981C>T uc002igw.1 - 8 3528 c.3464G>A c.(3463-3465)CGA>CAA p.R1155Q GPATCH8_uc002igv.1_Missense_Mutation_p.R1077Q|GPATCH8_uc010wiz.1_Missense_Mutation_p.R1077Q NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1155 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ATTGGGCTTTCGGGTAGCTGG 0.552 ARHGAP27 201176 broad.mit.edu 37 17 43475388 43475388 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:43475388T>C uc002iix.2 - 10 1195 c.746A>G c.(745-747)TAC>TGC p.Y249C ARHGAP27_uc010dak.2_Missense_Mutation_p.Y222C|ARHGAP27_uc010wjl.1_Missense_Mutation_p.Y368C NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 isoform a 590 PH. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding 0 Renal(3;0.0405) CTGGATCAGGTACTCAGAGCC 0.612 CRHR1 1394 broad.mit.edu 37 17 43907538 43907538 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:43907538G>A uc010dap.2 + 7 865 c.600G>A c.(598-600)GTG>GTA p.V200V CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Silent_p.V70V|CRHR1_uc002ijm.2_Silent_p.V171V|CRHR1_uc002ijn.2_Silent_p.V131V|CRHR1_uc010dar.2_Silent_p.V171V|CRHR1_uc010dao.2_Silent_p.V70V|CRHR1_uc010daq.2_Intron|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_RNA NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 200 Helical; Name=2; (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCTGGTTCGTGGTCCAGCTAA 0.642 CRHR1 1394 broad.mit.edu 37 17 43912090 43912090 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:43912090G>A uc010dap.2 + 14 1560 c.1295G>A c.(1294-1296)CGT>CAT p.R432H CRHR1_uc010wjx.1_Missense_Mutation_p.R228H|CRHR1_uc002ijp.2_Missense_Mutation_p.V257M|CRHR1_uc002ijm.2_Missense_Mutation_p.R403H|CRHR1_uc002ijn.2_Missense_Mutation_p.R363H|CRHR1_uc010dar.2_Missense_Mutation_p.R389H|CRHR1_uc010dao.2_Missense_Mutation_p.R302H|CRHR1_uc010daq.2_Missense_Mutation_p.R228H NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 432 Cytoplasmic (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TCCCCAACCCGTGTCAGCTTT 0.642 HOXB3 3213 broad.mit.edu 37 17 46627995 46627995 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:46627995C>T uc002inn.2 - 2 1397 c.997G>A c.(997-999)GTC>ATC p.V333I HOXB3_uc010wlm.1_Missense_Mutation_p.V260I|HOXB3_uc010dbf.2_Missense_Mutation_p.V333I|HOXB3_uc010dbg.2_Missense_Mutation_p.V333I|HOXB3_uc002ino.2_Missense_Mutation_p.V333I|HOXB3_uc010wlk.1_Missense_Mutation_p.V201I|HOXB3_uc010wll.1_Missense_Mutation_p.V260I NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 333 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCTTGGAGGACGTGCGGCTCA 0.721 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAM117A 81558 broad.mit.edu 37 17 47788852 47788852 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:47788852G>T uc002ipk.2 - 8 1196 c.1127C>A c.(1126-1128)CCG>CAG p.P376Q FAM117A_uc010wlz.1_Missense_Mutation_p.P104Q NM_030802 NP_110429 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 376 ovary(1) 1 TGAGCCAGTCGGGTTGAAATG 0.562 KIF2B 84643 broad.mit.edu 37 17 51900882 51900882 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:51900882G>A uc002iua.2 + 1 644 c.488G>A c.(487-489)CGC>CAC p.R163H uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 163 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CGGGAAAAGCGCAGGCGGCTG 0.547 RNF43 54894 broad.mit.edu 37 17 56439936 56439936 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:56439936C>T uc002iwf.2 - 5 2612 c.656G>A c.(655-657)CGC>CAC p.R219H RNF43_uc010wnv.1_Missense_Mutation_p.R178H|RNF43_uc002iwh.3_Missense_Mutation_p.R219H|RNF43_uc002iwg.3_Missense_Mutation_p.R219H|RNF43_uc010dcw.2_Missense_Mutation_p.R92H NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 219 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCACCGGATGCGCAGCACCGA 0.612 CCDC45 90799 broad.mit.edu 37 17 62528036 62528036 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:62528036G>A uc002jem.2 + 14 1626 c.1568G>A c.(1567-1569)CGT>CAT p.R523H CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.R359H|CCDC45_uc002jeo.1_5'Flank NM_138363 NP_612372 Q96GE4 CEP95_HUMAN coiled-coil domain containing 45 523 centrosome|spindle pole protein binding 0 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) GAAGCTGTTCGTAAAGGAACT 0.358 CACNG5 27091 broad.mit.edu 37 17 64881181 64881181 + Missense_Mutation SNP C C T rs141669982 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:64881181C>T uc010wqi.1 + 6 889 c.652C>T c.(652-654)CGC>TGC p.R218C CACNG5_uc010wqj.1_Missense_Mutation_p.R218C NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 218 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TGGCTTCTACCGCCCTCGGCT 0.622 ABCA5 23461 broad.mit.edu 37 17 67298996 67298996 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:67298996C>T uc002jif.2 - 7 2200 c.982G>A c.(982-984)GGA>AGA p.G328R ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.G328R|ABCA5_uc002jih.2_Missense_Mutation_p.G328R|ABCA5_uc010dfe.2_Missense_Mutation_p.G328R NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 328 Helical; (Potential). cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) TCAACTATTCCCACATGTTTT 0.308 DNAI2 64446 broad.mit.edu 37 17 72301522 72301522 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:72301522C>T uc002jkf.2 + 9 1251 c.1152C>T c.(1150-1152)GGC>GGT p.G384G DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 384 WD 4. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 TGACGGTTGGCGACTGGACAG 0.577 Kartagener_syndrome KIAA0195 9772 broad.mit.edu 37 17 73482483 73482483 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:73482483C>T uc002jnz.3 + 5 660 c.385C>T c.(385-387)CGA>TGA p.R129* KIAA0195_uc010wsa.1_Nonsense_Mutation_p.R139* NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 129 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCGGAGGCTGCGAGGGATCAT 0.582 TRIM65 201292 broad.mit.edu 37 17 73888549 73888549 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:73888549G>A uc002jpx.2 - 3 579 c.543C>T c.(541-543)TCC>TCT p.S181S NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN tripartite motif-containing 65 181 Potential. intracellular zinc ion binding 0 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) TGAACTTGCCGGAGACCCAGG 0.647 FBF1 85302 broad.mit.edu 37 17 73910251 73910251 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:73910251G>A uc002jqc.2 - 25 3172 c.2898C>T c.(2896-2898)ACC>ACT p.T966T FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Silent_p.T957T|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Silent_p.T276T NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 966 0 CACGCAGGGCGGTGGCGTTGA 0.692 FBF1 85302 broad.mit.edu 37 17 73915794 73915794 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:73915794G>A uc002jqc.2 - 19 2322 c.2048C>T c.(2047-2049)GCG>GTG p.A683V FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.A674V|FBF1_uc002jqd.1_Missense_Mutation_p.A684V|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_5'UTR NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 683 0 CTTCTCCTGCGCTATGGCCGC 0.657 EVPL 2125 broad.mit.edu 37 17 74018596 74018596 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:74018596G>A uc002jqi.2 - 5 732 c.504C>T c.(502-504)TAC>TAT p.Y168Y EVPL_uc010wss.1_Silent_p.Y168Y|EVPL_uc010wst.1_Translation_Start_Site NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 168 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 TGCCCGGCCCGTACTGGCCTG 0.682 TNRC6C 57690 broad.mit.edu 37 17 76075622 76075622 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:76075622G>T uc002jud.2 + 11 3957 c.3357G>T c.(3355-3357)CAG>CAT p.Q1119H TNRC6C_uc002juf.2_Missense_Mutation_p.Q1116H NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1119 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TATCCCCTCAGGTCAGACCCA 0.537 ENPP7 339221 broad.mit.edu 37 17 77709045 77709045 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:77709045G>A uc002jxa.2 + 3 623 c.603G>A c.(601-603)ACG>ACA p.T201T NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 201 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGGACTCCACGGGCCACAGGT 0.652 RNF213 57674 broad.mit.edu 37 17 78363631 78363631 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:78363631T>C uc002jyh.1 + 41 9641 c.9418T>C c.(9418-9420)TTA>CTA p.L3140L uc002jyi.1_Intron|RNF213_uc010dhx.1_Silent_p.L84L 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) TCTGCAGGCCTTAAACAGATG 0.537 ARL16 339231 broad.mit.edu 37 17 79648877 79648877 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:79648877A>G uc002kbf.2 - 5 554 c.455T>C c.(454-456)ATG>ACG p.M152T ARL16_uc002kbe.2_Missense_Mutation_p.M81T|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank NM_001040025 NP_001035114 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 152 GTP binding 0 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TAATGACTTCATCTCCTCCGT 0.577 YES1 7525 broad.mit.edu 37 18 732849 732849 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:732849G>T uc002kky.2 - 11 1629 c.1408C>A c.(1408-1410)CGA>AGA p.R470R YES1_uc002kkz.2_Silent_p.R470R NM_005433 NP_005424 P07947 YES_HUMAN viral oncogene yes-1 homolog 1 470 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity lung(2)|ovary(1) 3 Dasatinib(DB01254) TATGGCACTCGGCCCTTTGTT 0.418 LAMA1 284217 broad.mit.edu 37 18 7023203 7023203 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:7023203G>A uc002knm.2 - 19 2755 c.2661C>T c.(2659-2661)GAC>GAT p.D887D LAMA1_uc010wzj.1_Silent_p.D363D NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 887 Laminin EGF-like 8. 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) CATAGAACCCGTCAGCACACC 0.587 KIAA0802 23255 broad.mit.edu 37 18 8813106 8813106 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:8813106C>T uc002knr.2 + 12 2876 c.2734C>T c.(2734-2736)CGC>TGC p.R912C KIAA0802_uc002knq.2_Missense_Mutation_p.R871C|KIAA0802_uc002kns.2_Missense_Mutation_p.R280C NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1222 0 CATGGACCTGCGCTGGCAGAT 0.592 C18orf10 25941 broad.mit.edu 37 18 34408646 34408646 + Nonsense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:34408646C>A uc002kzw.1 - 1 513 c.85G>T c.(85-87)GAA>TAA p.E29* KIAA1328_uc002kzz.2_5'Flank|C18orf10_uc002kzv.1_Nonsense_Mutation_p.E29*|C18orf10_uc010xci.1_Nonsense_Mutation_p.E29*|C18orf10_uc002kzx.1_Nonsense_Mutation_p.E29*|C18orf10_uc002kzy.3_Nonsense_Mutation_p.E29* NM_015476 NP_056291 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 29 cytoplasm|microtubule skin(1) 1 CTTTCCTCACCTAGGATGCGC 0.682 ATP5A1 498 broad.mit.edu 37 18 43666116 43666116 + Silent SNP G G A rs143320751 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:43666116G>A uc002lbr.1 - 10 1482 c.1392C>T c.(1390-1392)GGC>GGT p.G464G ATP5A1_uc010dnl.1_Silent_p.G414G|ATP5A1_uc002lbs.1_Silent_p.G414G|ATP5A1_uc002lbt.1_Silent_p.G464G NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 464 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 TTAGACGCACGCCACGACTCA 0.478 MBD1 4152 broad.mit.edu 37 18 47800666 47800666 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:47800666G>A uc010dow.1 - 11 1473 c.1036C>T c.(1036-1038)CGG>TGG p.R346W MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Missense_Mutation_p.R296W|MBD1_uc010xdi.1_Missense_Mutation_p.R397W|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_Missense_Mutation_p.R346W|MBD1_uc002lei.3_Missense_Mutation_p.R346W|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_Missense_Mutation_p.R297W|MBD1_uc002lel.3_Missense_Mutation_p.R323W|MBD1_uc002lem.3_Missense_Mutation_p.R346W|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_Missense_Mutation_p.R371W|MBD1_uc010dox.1_Missense_Mutation_p.R323W|MBD1_uc002leo.2_Missense_Mutation_p.R346W NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 346 CXXC-type 3. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TCCATCCGCCGTAGGCAGGCT 0.642 C18orf54 162681 broad.mit.edu 37 18 51888230 51888230 + Missense_Mutation SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:51888230T>A uc002lfn.3 + 3 617 c.501T>A c.(499-501)AAT>AAA p.N167K C18orf54_uc002lfo.3_Missense_Mutation_p.N167K NM_173529 NP_775800 Q8IYD9 CR054_HUMAN hypothetical protein LOC162681 precursor 167 extracellular region ovary(1)|skin(1) 2 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) TTGAGAAGAATCCACATTTTC 0.403 ALPK2 115701 broad.mit.edu 37 18 56171292 56171292 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:56171292A>G uc002lhj.3 - 11 6332 c.6118T>C c.(6118-6120)TAT>CAT p.Y2040H NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 2040 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CTGATGGAATACTTCACAAAT 0.443 FBXO15 201456 broad.mit.edu 37 18 71740947 71740947 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:71740947C>T uc002lle.2 - 10 1390 c.1054G>A c.(1054-1056)GTA>ATA p.V352I FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.V428I NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 352 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) AAAAGAGTTACGTCCATCATG 0.453 NFATC1 4772 broad.mit.edu 37 18 77246762 77246762 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:77246762G>A uc010xfg.1 + 9 3060 c.2607G>A c.(2605-2607)CCG>CCA p.P869P NFATC1_uc002lnd.2_Intron|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P397P|NFATC1_uc002lnf.2_Silent_p.P856P|NFATC1_uc002lng.2_Intron|NFATC1_uc010xfk.1_Intron NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 869 Trans-activation domain B (TAD-B). 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) CAGCGTGCCCGCCCGCCACGG 0.726 ODF3L2 284451 broad.mit.edu 37 19 474683 474683 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:474683G>A uc002lor.2 - 1 301 c.65C>T c.(64-66)ACG>ATG p.T22M ODF3L2_uc010drp.2_Missense_Mutation_p.T22M NM_182577 NP_872383 Q3SX64 OD3L2_HUMAN outer dense fiber of sperm tails 3-like 2 22 0 CTGGCCCTCCGTCACTCGCCG 0.711 HCN2 610 broad.mit.edu 37 19 605121 605121 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:605121A>G uc002lpe.2 + 3 1170 c.1117A>G c.(1117-1119)ATG>GTG p.M373V NM_001194 NP_001185 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic 373 Helical; Name=Segment S5; (Potential). cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity 0 all_epithelial(18;2.78e-22)|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) TCTCATCAGCATGATGCTGCT 0.607 HCN2 610 broad.mit.edu 37 19 613949 613949 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:613949G>A uc002lpe.2 + 7 1976 c.1923G>A c.(1921-1923)GTG>GTA p.V641V NM_001194 NP_001185 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic 641 cAMP.|Cytoplasmic (Potential). cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity 0 all_epithelial(18;2.78e-22)|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) TCAACGAGGTGCTGGAGGAGT 0.706 GRIN3B 116444 broad.mit.edu 37 19 1003296 1003296 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:1003296C>T uc002lqo.1 + 2 594 c.594C>T c.(592-594)CCC>CCT p.P198P NM_138690 NP_619635 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, 198 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CTGGCCGGCCCCCACAGCTGG 0.746 CNN2 1265 broad.mit.edu 37 19 1036231 1036231 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:1036231G>A uc002lqu.2 + 5 856 c.493G>A c.(493-495)GTC>ATC p.V165I CNN2_uc002lqt.1_Intron|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.2_Intron|CNN2_uc010xgb.1_Missense_Mutation_p.V154I|CNN2_uc010xgc.1_Missense_Mutation_p.V186I NM_004368 NP_004359 Q99439 CNN2_HUMAN calponin 2 isoform a 165 V -> G (in Ref. 4; BAA20887). actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) TGGCCAGTGCGTCATCGGGCT 0.642 PCSK4 54760 broad.mit.edu 37 19 1486876 1486876 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:1486876G>A uc002ltb.1 - 8 1106 c.1044C>T c.(1042-1044)AGC>AGT p.S348S PCSK4_uc002lsz.2_5'Flank|PCSK4_uc002lta.2_Silent_p.S160S NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 348 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) TGGCCACGCCGCTGCTGTAGG 0.701 MKNK2 2872 broad.mit.edu 37 19 2046391 2046391 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:2046391G>A uc002lus.2 - 4 461 c.216C>T c.(214-216)ACC>ACT p.T72T MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Silent_p.T72T NM_199054 NP_951009 Q9HBH9 MKNK2_HUMAN MAP kinase-interacting serine/threonine kinase 2 72 cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity lung(1)|breast(1) 2 Ovarian(11;2.11e-07)|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) AGAAGCTGTCGGTGGCCCGGC 0.687 GNA15 2769 broad.mit.edu 37 19 3151745 3151745 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:3151745G>A uc002lxf.2 + 4 784 c.526G>A c.(526-528)GTC>ATC p.V176I NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 176 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GGAGGGCTACGTCCCCACAGC 0.632 ZFR2 23217 broad.mit.edu 37 19 3821382 3821382 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:3821382C>T uc002lyw.2 - 10 1599 c.1587G>A c.(1585-1587)GCG>GCA p.A529A ZFR2_uc010xhx.1_RNA NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 529 Potential. intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GCCGCTCCTCCGCCAGGTGCC 0.697 SH3GL1 6455 broad.mit.edu 37 19 4365576 4365576 + Silent SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:4365576C>A uc002maj.2 - 4 340 c.234G>T c.(232-234)CGG>CGT p.R78R SH3GL1_uc002mak.2_Silent_p.R78R|SH3GL1_uc010xig.1_Intron NM_003025 NP_003016 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 78 Required for dimerization upon membrane association (By similarity).|BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) TCACCTGGCCCCGGATCTTGG 0.657 T MLL AL C19orf10 56005 broad.mit.edu 37 19 4658063 4658063 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:4658063A>C uc002may.2 - 6 545 c.476T>G c.(475-477)CTG>CGG p.L159R NM_019107 NP_061980 Q969H8 CS010_HUMAN hypothetical protein LOC56005 precursor 159 ER-Golgi intermediate compartment|extracellular region 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015) CAGCTTGGACAGCTCAGCTTT 0.567 PTPRS 5802 broad.mit.edu 37 19 5212381 5212381 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:5212381G>A uc002mbv.2 - 31 4970 c.4736C>T c.(4735-4737)CCG>CTG p.P1579L PTPRS_uc002mbu.1_Missense_Mutation_p.P1148L|PTPRS_uc010xin.1_Missense_Mutation_p.P1121L|PTPRS_uc002mbw.2_Missense_Mutation_p.P1541L|PTPRS_uc002mbx.2_Missense_Mutation_p.P1136L|PTPRS_uc002mby.2_Missense_Mutation_p.P1132L NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1579 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) GGCATCTGGCGGGTTGCAGGT 0.672 ARHGEF18 23370 broad.mit.edu 37 19 7531811 7531811 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:7531811C>T uc002mgi.2 + 14 2601 c.2348C>T c.(2347-2349)GCG>GTG p.A783V ARHGEF18_uc010xjm.1_Missense_Mutation_p.A625V|ARHGEF18_uc002mgh.2_Missense_Mutation_p.A625V|ARHGEF18_uc002mgj.1_Missense_Mutation_p.A426V NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 783 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) CAGGTGGAGGCGCCAGGCACG 0.587 FBN3 84467 broad.mit.edu 37 19 8203327 8203327 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:8203327C>T uc002mjf.2 - 8 1008 c.987G>A c.(985-987)CCG>CCA p.P329P NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 329 TB 2. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCTCAGGGACCGGGCCAGCTG 0.682 KEAP1 9817 broad.mit.edu 37 19 10610266 10610266 + Silent SNP G G A rs11545828 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:10610266G>A uc002moq.1 - 2 600 c.444C>T c.(442-444)GGC>GGT p.G148G KEAP1_uc002mor.1_Silent_p.G148G NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 148 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CACACTTCTCGCCCATGGAGA 0.592 RAB3D 9545 broad.mit.edu 37 19 11446214 11446214 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:11446214G>A uc002mqy.2 - 4 619 c.381C>T c.(379-381)AAC>AAT p.N127N NM_004283 NP_004274 O95716 RAB3D_HUMAN RAB3D, member RAS oncogene family 127 exocytosis|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(2) 2 TGACCTGGGCGTTGTCCCAGG 0.607 PRKCSH 5589 broad.mit.edu 37 19 11552108 11552108 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:11552108G>A uc002mrt.2 + 6 740 c.404G>A c.(403-405)CGC>CAC p.R135H PRKCSH_uc002mru.2_Missense_Mutation_p.R135H|PRKCSH_uc010xlz.1_Missense_Mutation_p.R135H|PRKCSH_uc010dya.2_Missense_Mutation_p.A104T|PRKCSH_uc002mrv.1_Missense_Mutation_p.R135H|PRKCSH_uc010dyb.2_Missense_Mutation_p.R135H NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 135 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 GAGGTCACCCGCGAAGGGTTC 0.612 ZNF439 90594 broad.mit.edu 37 19 11978875 11978875 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:11978875T>C uc002mss.2 + 3 1119 c.991T>C c.(991-993)TGT>CGT p.C331R ZNF439_uc002msr.2_Missense_Mutation_p.C195R NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 331 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ATGTAAGCAGTGTGGGAAAGC 0.378 BEST2 54831 broad.mit.edu 37 19 12864133 12864133 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:12864133A>G uc002mux.2 + 2 212 c.212A>G c.(211-213)CAG>CGG p.Q71R NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN vitelliform macular dystrophy 2-like 1 71 Helical; (Potential). membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity ovary(1)|pancreas(1) 2 TATTGTGACCAGTATGCCAGC 0.542 MAST1 22983 broad.mit.edu 37 19 12969483 12969483 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:12969483G>A uc002mvm.2 + 12 1424 c.1296G>A c.(1294-1296)CCG>CCA p.P432P MAST1_uc002mvk.2_Silent_p.P428P NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 432 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 CCGAGAACCCGTTTGTGGTCG 0.557 GCDH 2639 broad.mit.edu 37 19 13007752 13007752 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:13007752G>A uc002mvq.2 + 9 958 c.881G>A c.(880-882)CGG>CAG p.R294Q GCDH_uc010xms.1_Missense_Mutation_p.R261Q|GCDH_uc002mvp.2_Missense_Mutation_p.R294Q|GCDH_uc010xmt.1_Missense_Mutation_p.R128Q|GCDH_uc010xmu.1_Missense_Mutation_p.R250Q NM_000159 NP_000150 Q92947 GCDH_HUMAN glutaryl-Coenzyme A dehydrogenase isoform a 294 Substrate binding. R -> W (in GA1). lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding 0 AACAACGCCCGGTACGGCATC 0.617 NANOS3 342977 broad.mit.edu 37 19 13988458 13988458 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:13988458C>T uc002mxj.3 + 1 509 c.396C>T c.(394-396)GGC>GGT p.G132G NM_001098622 NP_001092092 P60323 NANO3_HUMAN nanos homolog 3 113 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CACTTACTGGCCAGGGCTACA 0.662 SLC1A6 6511 broad.mit.edu 37 19 15083604 15083604 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:15083604C>T uc002naa.1 - 1 127 c.119G>A c.(118-120)CGC>CAC p.R40H SLC1A6_uc010dzu.1_Missense_Mutation_p.R40H|SLC1A6_uc010xod.1_Silent_p.A44A|SLC1A6_uc002nab.2_Missense_Mutation_p.R40H|SLC1A6_uc002nac.2_Missense_Mutation_p.R40H|SLC1A6_uc002nad.1_Missense_Mutation_p.R40H NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 40 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) GGTCTGCAGGCGCAGGCGCGT 0.682 SYDE1 85360 broad.mit.edu 37 19 15224598 15224598 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:15224598G>A uc002nah.1 + 8 2063 c.2032G>A c.(2032-2034)GTG>ATG p.V678M SYDE1_uc002nai.1_Missense_Mutation_p.V611M|SYDE1_uc002naj.1_Missense_Mutation_p.V335M NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 678 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|pancreas(1) 2 CTACGACCACGTGACGGGCAG 0.672 EPHX3 79852 broad.mit.edu 37 19 15342858 15342858 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:15342858G>A uc002nap.2 - 1 374 c.165C>T c.(163-165)TGC>TGT p.C55C EPHX3_uc002naq.2_Silent_p.C55C NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 55 extracellular region hydrolase activity 0 GGCGCCCGCAGCAGCCGCGCC 0.716 BRD4 23476 broad.mit.edu 37 19 15354055 15354055 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:15354055G>A uc002nar.2 - 14 3047 c.2825C>T c.(2824-2826)ACG>ATG p.T942M NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 942 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GAGTAGCGGCGTAGGGGGCTG 0.398 T NUT|C15orf55 lethal midline carcinoma of young people CYP4F22 126410 broad.mit.edu 37 19 15651270 15651270 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:15651270T>C uc002nbh.3 + 8 848 c.681T>C c.(679-681)AGT>AGC p.S227S NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 227 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 GGAAGATGAGTGATTATATCT 0.542 TPM4 7171 broad.mit.edu 37 19 16192753 16192753 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:16192753C>T uc002ndj.2 + 2 404 c.163C>T c.(163-165)CGC>TGC p.R55C TPM4_uc002ndi.2_Missense_Mutation_p.R91C|TPM4_uc002ndk.1_Translation_Start_Site NM_003290 NP_003281 P67936 TPM4_HUMAN tropomyosin 4 isoform 2 55 By similarity. cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1) 13 CCTCAACCGACGCATCCAGCT 0.607 T ALK ALCL USE1 55850 broad.mit.edu 37 19 17330519 17330519 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:17330519C>T uc002nfo.2 + 8 737 c.677C>T c.(676-678)ACG>ATG p.T226M USE1_uc010eal.1_3'UTR NM_018467 NP_060937 Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog 226 Cytoplasmic (Potential).|Potential. lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding 0 GAGCAGCACACGCAGAAGTCA 0.507 USHBP1 83878 broad.mit.edu 37 19 17369181 17369181 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:17369181C>T uc002nfs.1 - 8 1173 c.1060G>A c.(1060-1062)GAG>AAG p.E354K USHBP1_uc002nfr.1_5'UTR|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E290K NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 354 PDZ domain binding ovary(1) 1 CTGTATGCCTCTTCACAGTGT 0.438 FAM129C 199786 broad.mit.edu 37 19 17643096 17643096 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:17643096C>T uc010xpr.1 + 4 442 c.304C>T c.(304-306)CGA>TGA p.R102* FAM129C_uc010xpq.1_Nonsense_Mutation_p.R102*|FAM129C_uc010xps.1_Nonsense_Mutation_p.R71*|FAM129C_uc010xpt.1_RNA NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 102 0 CCGTGAGCACCGAGGACCCCT 0.672 TMEM59L 25789 broad.mit.edu 37 19 18726894 18726894 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:18726894C>T uc002njy.3 + 4 605 c.518C>T c.(517-519)ACA>ATA p.T173I TMEM59L_uc010ebu.1_Missense_Mutation_p.T173I NM_012109 NP_036241 Q9UK28 TM59L_HUMAN brain-specific membrane-anchored protein 173 Golgi membrane|integral to membrane|membrane fraction ovary(2)|skin(2) 4 TCCACCTGGACATACTACTTG 0.562 KLHL26 55295 broad.mit.edu 37 19 18779982 18779982 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:18779982T>C uc002njz.1 + 3 1802 c.1775T>C c.(1774-1776)CTG>CCG p.L592P NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 592 Kelch 6. ovary(1) 1 GAGCGGGACCTGCACTTCCCG 0.662 ATP13A1 57130 broad.mit.edu 37 19 19764812 19764812 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:19764812G>A uc002nnh.3 - 14 1983 c.1955C>T c.(1954-1956)GCC>GTC p.A652V ATP13A1_uc002nne.2_5'Flank|ATP13A1_uc002nnf.3_Missense_Mutation_p.A20V|ATP13A1_uc002nng.2_Missense_Mutation_p.A534V NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 652 Cytoplasmic (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 CCCCTTCACGGCCGCGATGTA 0.632 ZNF254 9534 broad.mit.edu 37 19 24310333 24310333 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:24310333A>T uc002nru.2 + 4 1665 c.1531A>T c.(1531-1533)ATT>TTT p.I511F ZNF254_uc010xrk.1_Missense_Mutation_p.I426F NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 511 C2H2-type 11. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ACATAAGATAATTCATACTGG 0.373 PLEKHF1 79156 broad.mit.edu 37 19 30165483 30165483 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:30165483A>G uc002nsh.3 + 2 839 c.737A>G c.(736-738)GAC>GGC p.D246G PLEKHF1_uc002nsi.3_Missense_Mutation_p.D331G NM_024310 NP_077286 Q96S99 PKHF1_HUMAN apoptosis-inducing protein D 246 apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding 0 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) AGTGGAGATGACGATGACTCC 0.716 ZNF536 9745 broad.mit.edu 37 19 31040129 31040129 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:31040129C>T uc002nsu.1 + 4 3741 c.3603C>T c.(3601-3603)AGC>AGT p.S1201S ZNF536_uc010edd.1_Silent_p.S1201S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCAAAGACAGCAGCAGCGATG 0.587 WDR88 126248 broad.mit.edu 37 19 33623132 33623132 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:33623132G>A uc002nui.2 + 1 135 c.57G>A c.(55-57)CCG>CCA p.P19P NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 19 ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) GCAAGTTGCCGCCACCCTCCG 0.701 ARHGAP33 115703 broad.mit.edu 37 19 36276311 36276311 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:36276311G>T uc002obr.1 + 19 1953 c.1868G>T c.(1867-1869)GGC>GTC p.G623V ARHGAP33_uc002obs.1_Missense_Mutation_p.G623V|ARHGAP33_uc002obt.1_Missense_Mutation_p.G487V|ARHGAP33_uc010eel.2_Missense_Mutation_p.G211V|ARHGAP33_uc002obv.1_Missense_Mutation_p.G211V NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 623 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 TCTCCTGCAGGCAGCAGACCC 0.667 CLIP3 25999 broad.mit.edu 37 19 36517493 36517493 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:36517493G>A uc010eeq.1 - 4 839 c.557C>T c.(556-558)CCG>CTG p.P186L uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.P186L NM_015526 NP_056341 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 186 ANK 2. chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTCACCTCGCGGCCTCGCACC 0.672 ZNF585B 92285 broad.mit.edu 37 19 37678131 37678131 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:37678131T>C uc002ofq.2 - 5 562 c.308A>G c.(307-309)GAC>GGC p.D103G ZNF585B_uc002ofr.1_5'UTR NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTGATTATGGTCCCATAATTT 0.338 EIF3K 27335 broad.mit.edu 37 19 39116703 39116703 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:39116703C>T uc002oiz.1 + 4 502 c.315C>T c.(313-315)CTC>CTT p.L105L EIF3K_uc010xuh.1_Silent_p.L105L|EIF3K_uc010xui.1_Silent_p.L18L NM_013234 NP_037366 Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, 105 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTTTGTACCTCGGGGACCTGC 0.582 ACTN4 81 broad.mit.edu 37 19 39207831 39207831 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:39207831C>T uc002oja.1 + 10 1077 c.1018C>T c.(1018-1020)CGT>TGT p.R340C ACTN4_uc010egc.1_Missense_Mutation_p.R340C NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 340 Spectrin 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGACTACCGGCGTGTGCACAA 0.622 FBXO27 126433 broad.mit.edu 37 19 39517602 39517602 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:39517602C>T uc002okh.2 - 5 698 c.616G>A c.(616-618)GTC>ATC p.V206I NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 206 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) AGAAGTTGGACGAGGAGTCTG 0.557 FCGBP 8857 broad.mit.edu 37 19 40368737 40368737 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:40368737G>A uc002omp.3 - 28 12619 c.12611C>T c.(12610-12612)ACG>ATG p.T4204M NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4204 VWFD 10. 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) GCTGGGGAGCGTCACGTCTAC 0.602 LTBP4 8425 broad.mit.edu 37 19 41132959 41132959 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:41132959C>T uc002ooh.1 + 32 4266 c.4266C>T c.(4264-4266)TAC>TAT p.Y1422Y LTBP4_uc002oog.1_Silent_p.Y1385Y|LTBP4_uc002ooi.1_Silent_p.Y1355Y|LTBP4_uc002ooj.1_Silent_p.Y295Y|LTBP4_uc002ook.1_Silent_p.Y556Y|LTBP4_uc002ool.1_Silent_p.Y434Y|LTBP4_uc010xvp.1_Silent_p.Y182Y NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1422 Pro-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GACTCCCCTACGAGTACGGCC 0.632 CYP2B6 1555 broad.mit.edu 37 19 41509957 41509957 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:41509957G>A uc002opr.1 + 2 230 c.223G>A c.(223-225)GTG>ATG p.V75M CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.V35M NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 75 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ACCGAGGCCCGTGGTCATGCT 0.532 BCKDHA 593 broad.mit.edu 37 19 41928113 41928113 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:41928113G>A uc002oqq.2 + 6 720 c.691G>A c.(691-693)GTC>ATC p.V231I CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.V265I|BCKDHA_uc002oqp.1_Missense_Mutation_p.V123I|BCKDHA_uc002oqr.2_Missense_Mutation_p.V231I|BCKDHA_uc010xvz.1_Missense_Mutation_p.V209I NM_000709 NP_000700 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha 231 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding 0 TGCCAACAGGGTCGTCATCTG 0.637 CEACAM7 1087 broad.mit.edu 37 19 42187807 42187807 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:42187807G>A uc002ori.1 - 3 617 c.615C>T c.(613-615)AGC>AGT p.S205S CEACAM7_uc010ehx.2_Silent_p.S205S|CEACAM7_uc010ehy.1_Intron NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 205 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TCTTTGTGGCGCTGAGTAGAA 0.537 CEACAM5 1048 broad.mit.edu 37 19 42224051 42224051 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:42224051C>T uc002ork.2 + 7 1816 c.1695C>T c.(1693-1695)GAC>GAT p.D565D CEACAM5_uc002orj.1_Silent_p.D564D|CEACAM5_uc002orl.2_Silent_p.D565D NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 565 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CAAGAAATGACGCAAGAGCCT 0.517 LYPD4 147719 broad.mit.edu 37 19 42343292 42343292 + Splice_Site SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:42343292C>T uc002orp.1 - 2 1051 c.67_splice c.e2+1 p.R23_splice LYPD4_uc002orq.1_Missense_Mutation_p.R23H NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 precursor anchored to membrane|plasma membrane ovary(1) 1 ACAGGACATACGAGGCAGAGT 0.577 GRIK5 2901 broad.mit.edu 37 19 42509992 42509992 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:42509992G>A uc002osj.1 - 16 2181 c.2146C>T c.(2146-2148)CGC>TGC p.R716C GRIK5_uc002osi.1_Missense_Mutation_p.R288C NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 716 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) AAGGCGTAGCGGGAGTTGAGG 0.597 CIC 23152 broad.mit.edu 37 19 42791309 42791309 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:42791309G>A uc002otf.1 + 3 409 c.369G>A c.(367-369)CCG>CCA p.P123P NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 123 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GTAAGGGTCCGCCTCCCACCA 0.677 T DUX4 soft tissue sarcoma CIC 23152 broad.mit.edu 37 19 42795157 42795157 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:42795157C>T uc002otf.1 + 10 2277 c.2237C>T c.(2236-2238)GCT>GTT p.A746V NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 746 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) CACTTGGTGGCTGGACCCCTG 0.672 T DUX4 soft tissue sarcoma CEACAM1 634 broad.mit.edu 37 19 43026288 43026288 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:43026288G>A uc002otv.2 - 3 604 c.491C>T c.(490-492)GCC>GTC p.A164V uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Missense_Mutation_p.A164V|CEACAM1_uc010eij.2_Missense_Mutation_p.A164V|CEACAM1_uc002otx.2_Missense_Mutation_p.A164V|CEACAM1_uc002oty.2_Missense_Mutation_p.A164V|CEACAM1_uc002otz.2_Missense_Mutation_p.A164V|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.A164V|CEACAM1_uc002oub.2_Missense_Mutation_p.A164V|CEACAM1_uc002ouc.2_Missense_Mutation_p.A164V NM_001712 NP_001703 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion 164 Ig-like C2-type 1.|Extracellular (Potential). angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction ovary(1)|central_nervous_system(1) 2 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) ACAGGTGAAGGCCACAGCATC 0.552 CEACAM8 1088 broad.mit.edu 37 19 43098935 43098935 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:43098935G>A uc002oud.2 - 1 148 c.46C>T c.(46-48)CAG>TAG p.Q16* uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion 16 immune response anchored to membrane|extracellular space|integral to plasma membrane ovary(1) 1 Prostate(69;0.00899) AGGAGCCCCTGCCAGGGGATG 0.627 ZNF180 7733 broad.mit.edu 37 19 44980971 44980971 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:44980971G>A uc002ozf.3 - 5 2009 c.1727C>T c.(1726-1728)CCG>CTG p.P576L ZNF180_uc002ozh.3_Missense_Mutation_p.P233L|ZNF180_uc002ozi.3_Missense_Mutation_p.P549L|ZNF180_uc002ozg.3_Missense_Mutation_p.P575L|ZNF180_uc010ejm.2_Missense_Mutation_p.P551L NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P576L(1) ovary(2) 2 Prostate(69;0.0435) ACATTCATACGGTTTTTCCCC 0.408 QPCTL 54814 broad.mit.edu 37 19 46206170 46206170 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:46206170G>A uc010xxr.1 + 7 1233 c.1012G>A c.(1012-1014)GTG>ATG p.V338M QPCTL_uc010ekn.2_Missense_Mutation_p.V244M NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 338 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) AGGGGTACCCGTGCTCCATCT 0.602 DMPK 1760 broad.mit.edu 37 19 46280705 46280705 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:46280705G>A uc002pdd.1 - 7 1600 c.1056C>T c.(1054-1056)CTC>CTT p.L352L DMPK_uc010xxs.1_Silent_p.L253L|DMPK_uc002pde.1_Silent_p.L352L|DMPK_uc002pdf.1_Silent_p.L342L|DMPK_uc002pdg.1_Silent_p.L342L|DMPK_uc002pdh.1_Silent_p.L342L|DMPK_uc002pdi.1_Silent_p.L368L|DMPK_uc010xxt.1_Silent_p.L342L NM_001081563 NP_001075032 Q09013 DMPK_HUMAN myotonic dystrophy protein kinase isoform 1 352 AGC-kinase C-terminal. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3) 3 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) CATCCCAGTCGAGGCCAAAGA 0.622 DMWD 1762 broad.mit.edu 37 19 46289222 46289222 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:46289222G>A uc002pdj.1 - 3 1578 c.1532C>T c.(1531-1533)GCG>GTG p.A511V DMWD_uc002pdk.1_Missense_Mutation_p.A511V|DMWD_uc010eko.1_Missense_Mutation_p.A196V NM_004943 NP_004934 Q09019 DMWD_HUMAN dystrophia myotonica-containing WD repeat motif 511 meiosis 0 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) AGGCTCTGCCGCCACACCCGG 0.726 IGFL2 147920 broad.mit.edu 37 19 46663963 46663963 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:46663963G>A uc010xxv.1 + 3 202 c.166G>A c.(166-168)GCC>ACC p.A56T IGFL2_uc002peb.2_Missense_Mutation_p.A67T NM_001135113 NP_001128585 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 isoform b 56 extracellular region protein binding 0 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) TTACAATGACGCCATCGTGTC 0.592 STRN4 29888 broad.mit.edu 37 19 47225520 47225520 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:47225520G>A uc002pfl.2 - 15 2017 c.1984C>T c.(1984-1986)CGC>TGC p.R662C STRN4_uc002pfm.2_Missense_Mutation_p.R669C|STRN4_uc010xyf.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 662 WD 5. cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TCCAGGAAGCGGATGCCCCTG 0.607 SYNGR4 23546 broad.mit.edu 37 19 48876813 48876813 + Missense_Mutation SNP G G A rs139662043 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:48876813G>A uc002piz.2 + 3 378 c.133G>A c.(133-135)GGC>AGC p.G45S NM_012451 NP_036583 O95473 SNG4_HUMAN synaptogyrin 4 45 MARVEL.|Helical; (Potential). 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) GCTGACCGACGGCTACCAGAA 0.592 LMTK3 114783 broad.mit.edu 37 19 49012113 49012113 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:49012113C>T uc002pjk.2 - 6 639 c.639G>A c.(637-639)CCG>CCA p.P213P NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) AGTACCTGTACGGCTGTGCTT 0.463 HSD17B14 51171 broad.mit.edu 37 19 49316486 49316486 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:49316486G>A uc002pkv.1 - 9 1025 c.759C>T c.(757-759)TAC>TAT p.Y253Y BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_3'UTR NM_016246 NP_057330 Q9BPX1 DHB14_HUMAN dehydrogenase/reductase (SDR family) member 10 253 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity 0 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) CCTTGCACCCGTACCCCAGCT 0.642 TULP2 7288 broad.mit.edu 37 19 49391390 49391390 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:49391390G>A uc002pkz.2 - 8 916 c.765C>T c.(763-765)CAC>CAT p.H255H NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 255 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) AGGAGGCTTCGTGCCTCATAT 0.627 PRR12 57479 broad.mit.edu 37 19 50105065 50105065 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:50105065G>A uc002poo.3 + 6 4663 c.4663G>A c.(4663-4665)GCG>ACG p.A1555T NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 734 DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GCAGGAGACGGCGGCAGTGTG 0.692 SCAF1 58506 broad.mit.edu 37 19 50156708 50156708 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:50156708C>T uc002poq.2 + 7 3186 c.3062C>T c.(3061-3063)GCG>GTG p.A1021V NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1021 Glu-rich. mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CGAGGTGGGGCggaggaggag 0.498 IRF3 3661 broad.mit.edu 37 19 50165476 50165476 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:50165476C>T uc010end.1 - 6 1093 c.711G>A c.(709-711)ACG>ACA p.T237T IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Silent_p.T237T|IRF3_uc002poy.1_Silent_p.T237T|IRF3_uc002pou.2_Silent_p.T237T|IRF3_uc002pov.2_Silent_p.T91T|IRF3_uc002pow.2_Silent_p.T237T|IRF3_uc002poz.1_Silent_p.T237T|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank NM_001571 NP_001562 Q14653 IRF3_HUMAN interferon regulatory factor 3 237 Involved in HERC5 binding. interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor 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;0.0011)|GBM - Glioblastoma multiforme(134;0.02) ATCCAGGCAGCGTCCTGTCTC 0.652 POLD1 5424 broad.mit.edu 37 19 50916998 50916998 + Splice_Site SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:50916998G>T uc002psb.3 + 19 2307 c.2251_splice c.e19-1 p.V751_splice POLD1_uc002psc.3_Splice_Site_p.V751_splice|POLD1_uc010enx.2_Splice_Site|POLD1_uc010eny.2_Splice_Site_p.V777_splice NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) ACCGCCCGCAGGTGGTGTATG 0.642 DNA_polymerases_(catalytic_subunits) FPR1 2357 broad.mit.edu 37 19 52249833 52249833 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:52249833C>T uc002pxq.2 - 2 510 c.415G>A c.(415-417)GTG>ATG p.V139M NM_002029 NP_002020 P21462 FPR1_HUMAN formyl peptide receptor 1 139 Cytoplasmic (Potential). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity ovary(1)|lung(1)|skin(1) 3 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GCCAGGCTCACGGTGCGGTGG 0.552 MYADM 91663 broad.mit.edu 37 19 54377407 54377407 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:54377407G>T uc002qcl.2 + 3 772 c.624G>T c.(622-624)GCG>GCT p.A208A MYADM_uc002qcm.2_Silent_p.A208A|MYADM_uc002qcn.2_Silent_p.A208A|MYADM_uc002qco.2_Silent_p.A208A|MYADM_uc002qcp.2_Silent_p.A208A NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 208 MARVEL 2.|Helical; (Potential). integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) GGTGCGTGGCGGTGTACGCCA 0.622 PRKCG 5582 broad.mit.edu 37 19 54395051 54395051 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:54395051C>T uc002qcq.1 + 6 935 c.653C>T c.(652-654)ACG>ATG p.T218M PRKCG_uc010eqz.1_Missense_Mutation_p.T218M|PRKCG_uc010yef.1_Missense_Mutation_p.T218M|PRKCG_uc010yeg.1_Missense_Mutation_p.T218M|PRKCG_uc010yeh.1_Missense_Mutation_p.T105M NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 218 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GTGAAAGCCACGCTAAACCCT 0.537 LILRB2 10288 broad.mit.edu 37 19 54783647 54783647 + Silent SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:54783647T>G uc002qfb.2 - 4 620 c.354A>C c.(352-354)ACA>ACC p.T118T LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.T118T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.T118T|LILRB2_uc010yet.1_Silent_p.T2T|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 118 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCCTCTCACCTGTCATCACCA 0.617 NLRP7 199713 broad.mit.edu 37 19 55449463 55449463 + Missense_Mutation SNP C C T rs104895502 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:55449463C>T uc002qih.3 - 5 2154 c.2078G>A c.(2077-2079)CGG>CAG p.R693Q NLRP7_uc002qig.3_Missense_Mutation_p.R665Q|NLRP7_uc002qii.3_Missense_Mutation_p.R693Q|NLRP7_uc010esk.2_Missense_Mutation_p.R693Q|NLRP7_uc010esl.2_Missense_Mutation_p.R721Q NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 693 LRR 2. R -> W (in HYDM).|R -> P (in HYDM).|R -> Q (in HYDM). ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) ACAAAGAATCCGCACAGAAGA 0.468 NLRP11 204801 broad.mit.edu 37 19 56321602 56321602 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:56321602G>A uc010ygf.1 - 5 1085 c.374C>T c.(373-375)TCG>TTG p.S125L NLRP11_uc002qlz.2_Missense_Mutation_p.S26L|NLRP11_uc002qmb.2_Missense_Mutation_p.S26L|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 125 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) CACATCTGACGAAACGTCACG 0.383 ZNF460 10794 broad.mit.edu 37 19 57803241 57803241 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:57803241A>G uc002qog.2 + 3 1654 c.1332A>G c.(1330-1332)GGA>GGG p.G444G ZNF460_uc010ygv.1_Silent_p.G403G NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCATACTGGAGAGAAGCCGT 0.483 ZNF772 400720 broad.mit.edu 37 19 57986509 57986509 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:57986509T>C uc002qot.2 - 4 466 c.205A>G c.(205-207)ACA>GCA p.T69A ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Intron|ZNF772_uc010ygz.1_Intron|ZNF772_uc010yha.1_Intron|ZNF772_uc002qou.2_Intron NM_001024596 NP_001019767 Q68DY9 ZN772_HUMAN zinc finger protein 772 isoform 1 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) ATGAAAGATGTATGTCCTAAG 0.448 ZNF497 162968 broad.mit.edu 37 19 58868276 58868276 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:58868276G>A uc002qsh.1 - 3 915 c.726C>T c.(724-726)GGC>GGT p.G242G A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.G242G|uc002qsj.1_5'UTR|uc002qsk.1_5'Flank NM_198458 NP_940860 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 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;0.0278) GCGGCCGCGCGCCCGTGTGCA 0.697 TPO 7173 broad.mit.edu 37 2 1481016 1481016 + Silent SNP G G A rs145985334 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:1481016G>A uc002qww.2 + 8 1069 c.978G>A c.(976-978)GCG>GCA p.A326A TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Silent_p.A326A|TPO_uc002qwr.2_Silent_p.A326A|TPO_uc002qwx.2_Silent_p.A326A|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Silent_p.A326A NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 326 Extracellular (Potential). A -> T (in TDH2A). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCCTGGACGCGTCCACCGTGT 0.706 PXDN 7837 broad.mit.edu 37 2 1648403 1648403 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:1648403G>A uc002qxa.2 - 18 3794 c.3730C>T c.(3730-3732)CGA>TGA p.R1244* NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1244 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) TCCCCATCTCGCAGGCGCTTG 0.617 ADAM17 6868 broad.mit.edu 37 2 9630357 9630357 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:9630357G>T uc002qzu.2 - 19 2607 c.2424C>A c.(2422-2424)TCC>TCA p.S808S IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Silent_p.S791S|ADAM17_uc010ewz.2_Silent_p.S151S NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 808 Cytoplasmic (Potential). B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) GCAGTTTAAAGGAGGCAGCCT 0.443 GREB1 9687 broad.mit.edu 37 2 11751001 11751001 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:11751001C>T uc002rbk.1 + 18 3154 c.2854C>T c.(2854-2856)CTG>TTG p.L952L GREB1_uc002rbo.1_Silent_p.L586L|GREB1_uc002rbp.1_5'Flank NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 952 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CATGGTCCTGCTGCGGGTGCC 0.667 GREB1 9687 broad.mit.edu 37 2 11777870 11777870 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:11777870C>T uc002rbk.1 + 31 5675 c.5375C>T c.(5374-5376)CCG>CTG p.P1792L GREB1_uc002rbp.1_Missense_Mutation_p.P790L NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1792 integral to membrane p.P1792L(1) ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCGGTCGTGCCGGCCCAGTAC 0.662 NBAS 51594 broad.mit.edu 37 2 15468434 15468434 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:15468434C>T uc002rcc.1 - 37 4376 c.4350G>A c.(4348-4350)GGG>GGA p.G1450G NBAS_uc010exl.1_Silent_p.G522G|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1450 ovary(2)|liver(1)|skin(1) 4 CACATTTTTGCCCCTaaaaag 0.209 SMC6 79677 broad.mit.edu 37 2 17877597 17877597 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:17877597T>C uc002rco.2 - 22 2787 c.2491A>G c.(2491-2493)AAA>GAA p.K831E SMC6_uc010exo.2_Missense_Mutation_p.K831E|SMC6_uc002rcn.2_Missense_Mutation_p.K831E|SMC6_uc002rcp.1_Missense_Mutation_p.K857E NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 831 Potential. DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CGTTTCTTTTTATTTAAGGTA 0.318 MFSD2B 388931 broad.mit.edu 37 2 24246517 24246517 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:24246517A>G uc002reo.1 + 12 1248 c.1234A>G c.(1234-1236)ACC>GCC p.T412A NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 412 Helical; (Potential). transport integral to membrane ovary(2) 2 AGGCCTGGAGACCATCTTCTA 0.612 HADHB 3032 broad.mit.edu 37 2 26502949 26502949 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:26502949A>G uc002rgz.2 + 10 1150 c.899A>G c.(898-900)TAC>TGC p.Y300C HADHB_uc010ykv.1_Missense_Mutation_p.Y278C|HADHB_uc010ykw.1_Missense_Mutation_p.Y285C|HADHB_uc002rha.2_Missense_Mutation_p.Y177C|HADHB_uc010ykx.1_Missense_Mutation_p.Y226C NM_000183 NP_000174 P55084 ECHB_HUMAN mitochondrial trifunctional protein, beta 300 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCAAGCCCTACGGCACAGTG 0.383 KCNK3 3777 broad.mit.edu 37 2 26950776 26950776 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:26950776C>T uc002rhn.2 + 2 688 c.525C>T c.(523-525)GCC>GCT p.A175A NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 175 Helical; (Potential). synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATCGGCGCCGCCGCCTTCT 0.637 NRBP1 29959 broad.mit.edu 37 2 27663726 27663726 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:27663726G>A uc002rko.2 + 15 2080 c.1248G>A c.(1246-1248)CAG>CAA p.Q416Q NRBP1_uc002rkq.2_Silent_p.Q415Q|NRBP1_uc002rkp.2_Silent_p.Q416Q|NRBP1_uc002rkr.2_Silent_p.Q207Q|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 416 ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) AGCAGCCACAGCAGGAGGAGG 0.602 NRBP1 29959 broad.mit.edu 37 2 27664014 27664014 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:27664014C>T uc002rko.2 + 16 2182 c.1350C>T c.(1348-1350)AAC>AAT p.N450N NRBP1_uc002rkq.2_Silent_p.N449N|NRBP1_uc002rkp.2_Silent_p.N450N|NRBP1_uc002rkr.2_Silent_p.N241N|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank NM_013392 NP_037524 Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 450 ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(172;0.155) TGCAGTGCAACATTGAGTCGG 0.532 IFT172 26160 broad.mit.edu 37 2 27688653 27688653 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:27688653T>C uc002rku.2 - 17 1840 c.1789A>G c.(1789-1791)ATC>GTC p.I597V NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 597 TPR 1. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CCAAACTCGATGAGGCCCTCA 0.547 CRIM1 51232 broad.mit.edu 37 2 36668566 36668566 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:36668566C>T uc002rpd.2 + 3 710 c.671C>T c.(670-672)CCG>CTG p.P224L NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 224 Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GTCTGCCAGCCGGGAAACCTG 0.577 EIF2AK2 5610 broad.mit.edu 37 2 37353552 37353552 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:37353552A>G uc010ynh.1 - 11 1345 c.788T>C c.(787-789)TTT>TCT p.F263S EIF2AK2_uc010fab.1_Intron|EIF2AK2_uc010yng.1_Missense_Mutation_p.F263S|EIF2AK2_uc010fac.2_Missense_Mutation_p.F263S|EIF2AK2_uc010fad.2_Missense_Mutation_p.F263S NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha 263 Missing: Loss of activity. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) ATCCATGCCAAACCTTAAAGA 0.393 TTC7A 57217 broad.mit.edu 37 2 47278950 47278950 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:47278950C>T uc002rvo.2 + 18 2451 c.2083C>T c.(2083-2085)CCC>TCC p.P695S TTC7A_uc002rvm.2_Missense_Mutation_p.P661S|TTC7A_uc010fbb.2_Missense_Mutation_p.P719S|TTC7A_uc010fbc.2_Missense_Mutation_p.P341S|TTC7A_uc002rvp.2_Missense_Mutation_p.P576S|TTC7A_uc002rvq.2_Missense_Mutation_p.P435S|TTC7A_uc002rvr.2_Missense_Mutation_p.P144S NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 695 binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GCTGACTATGCCCTCTTCGGT 0.657 BCL11A 53335 broad.mit.edu 37 2 60688523 60688523 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:60688523G>A uc002sae.1 - 4 1752 c.1524C>T c.(1522-1524)AGC>AGT p.S508S BCL11A_uc002sab.2_Silent_p.S508S|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.S177S|BCL11A_uc010ypj.1_Silent_p.S474S|BCL11A_uc002sad.1_Silent_p.S356S|BCL11A_uc002saf.1_Silent_p.S474S NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 508 Glu-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CCACCCTCTCGCTCTCCGTCA 0.463 T IGH@ B-CLL CTNNA2 1496 broad.mit.edu 37 2 80136848 80136848 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:80136848G>A uc010ysh.1 + 6 986 c.981G>A c.(979-981)CGG>CGA p.R327R CTNNA2_uc010yse.1_Silent_p.R327R|CTNNA2_uc010ysf.1_Silent_p.R327R|CTNNA2_uc010ysg.1_Silent_p.R327R NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 327 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GAGACGACCGGCGCGAGAGGA 0.637 POLR1A 25885 broad.mit.edu 37 2 86305045 86305045 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:86305045G>A uc002sqs.2 - 11 1696 c.1317C>T c.(1315-1317)TAC>TAT p.Y439Y NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 439 YA -> ST (in Ref. 1; AAC99959). termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AGCGCGCAGCGTAGTCCACTC 0.358 ZAP70 7535 broad.mit.edu 37 2 98351799 98351799 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:98351799T>C uc002syd.1 + 10 1376 c.1169T>C c.(1168-1170)ATG>ACG p.M390T ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.M280T|ZAP70_uc002syf.1_Missense_Mutation_p.M83T NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 390 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GCGCAGATCATGCACCAGCTG 0.652 POU3F3 5455 broad.mit.edu 37 2 105472966 105472966 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:105472966G>A uc010ywg.1 + 1 998 c.998G>A c.(997-999)CGC>CAC p.R333H NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 333 POU-specific. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 AAGCAGCGGCGCATCAAGCTG 0.652 IL1F6 27179 broad.mit.edu 37 2 113765559 113765559 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:113765559A>G uc010yxr.1 + 4 415 c.415A>G c.(415-417)ATC>GTC p.I139V NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN interleukin 1 family, member 6 (epsilon) 139 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding 0 CTGTCCTCTCATCCTTACCCA 0.512 PRPF40A 55660 broad.mit.edu 37 2 153519623 153519623 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:153519623G>A uc002tyh.3 - 20 2174 c.2152C>T c.(2152-2154)CGA>TGA p.R718* PRPF40A_uc002tyg.3_Nonsense_Mutation_p.R174*|PRPF40A_uc010zcd.1_Nonsense_Mutation_p.R669* NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 745 FF 5. mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 GATTCTTTTCGTTTCATCTTC 0.338 TANC1 85461 broad.mit.edu 37 2 160035383 160035383 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:160035383A>G uc002uag.2 + 14 2493 c.2219A>G c.(2218-2220)CAG>CGG p.Q740R TANC1_uc010fol.1_Missense_Mutation_p.Q634R|TANC1_uc010zcm.1_Missense_Mutation_p.Q732R|TANC1_uc010fom.1_Missense_Mutation_p.Q546R|TANC1_uc002uai.1_RNA NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 740 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 TATTTGCTTCAGTGCAACATG 0.552 IFIH1 64135 broad.mit.edu 37 2 163128888 163128888 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:163128888G>A uc002uce.2 - 13 2686 c.2464C>T c.(2464-2466)CGA>TGA p.R822* NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 822 Helicase C-terminal. 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 GCTCTGGCTCGACCACGGGCC 0.428 FIGN 55137 broad.mit.edu 37 2 164466291 164466291 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:164466291C>T uc002uck.1 - 3 2362 c.2051G>A c.(2050-2052)CGC>CAC p.R684H NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 684 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 GCCTTCTGTGCGCTGGACGAG 0.522 DYNC1I2 1781 broad.mit.edu 37 2 172563873 172563873 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:172563873C>T uc002uha.1 + 5 486 c.321C>T c.(319-321)GGC>GGT p.G107G DYNC1I2_uc002uhc.2_Silent_p.G101G|DYNC1I2_uc002uhb.1_Silent_p.G101G|DYNC1I2_uc010zds.1_Silent_p.G119G|DYNC1I2_uc002uhd.1_Silent_p.G101G|DYNC1I2_uc002uhe.1_Silent_p.G107G|DYNC1I2_uc002uhf.1_Silent_p.G101G|DYNC1I2_uc010zdt.1_Silent_p.G119G|DYNC1I2_uc002uhg.1_Silent_p.G22G NM_001378 NP_001369 Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 107 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.198) CTGGAGATGGCGCCGTGGGAT 0.413 SLC25A12 8604 broad.mit.edu 37 2 172647993 172647993 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:172647993C>T uc002uhh.2 - 15 1642 c.1553G>A c.(1552-1554)GGT>GAT p.G518D SLC25A12_uc010fqh.2_Missense_Mutation_p.G411D NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 518 Solcar 3. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) AAGATTTAAACCTCCCACGTG 0.378 TTN 7273 broad.mit.edu 37 2 179440987 179440987 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:179440987G>A uc010zfg.1 - 275 62392 c.62168C>T c.(62167-62169)ACC>ATC p.T20723I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T14418I|TTN_uc010zfi.1_Missense_Mutation_p.T14351I|TTN_uc010zfj.1_Missense_Mutation_p.T14226I|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21650 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) GGTTCCTGTGGTATCTTTTAT 0.453 DNAH7 56171 broad.mit.edu 37 2 196822106 196822106 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:196822106G>A uc002utj.3 - 19 3058 c.2957C>T c.(2956-2958)ACG>ATG p.T986M NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 986 Stem (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 ATACAGCCACGTGGCTTGGAC 0.493 CDK15 65061 broad.mit.edu 37 2 202671472 202671472 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:202671472C>T uc002uyt.2 + 1 134 c.85C>T c.(85-87)CGG>TGG p.R29W CDK15_uc010ftm.2_Intron|CDK15_uc002uys.2_Intron|CDK15_uc010ftn.1_Intron|CDK15_uc010fto.1_Missense_Mutation_p.R29W NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 29 ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) ACACAGCTGTCGGAGGAGTCA 0.507 ADAM23 8745 broad.mit.edu 37 2 207413068 207413068 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:207413068G>T uc002vbq.2 + 8 1080 c.857G>T c.(856-858)AGA>ATA p.R286I ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 286 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGAAGGAAGAGAGCAGTGAAT 0.413 ADAM23 8745 broad.mit.edu 37 2 207459518 207459518 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:207459518G>A uc002vbq.2 + 23 2359 c.2136G>A c.(2134-2136)ACG>ACA p.T712T ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 712 Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AAGATGGAACGCCATGTGGCC 0.428 ABCA12 26154 broad.mit.edu 37 2 215809791 215809791 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:215809791C>T uc002vew.2 - 49 7497 c.7277G>A c.(7276-7278)CGG>CAG p.R2426Q ABCA12_uc002vev.2_Missense_Mutation_p.R2108Q|ABCA12_uc010zjn.1_Missense_Mutation_p.R1353Q NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2426 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CCAGAGGTGCCGTTTCGACTT 0.373 ABCA12 26154 broad.mit.edu 37 2 215914482 215914482 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:215914482G>A uc002vew.2 - 6 781 c.561C>T c.(559-561)AGC>AGT p.S187S ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 187 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATCCTGAATAGCTGTCACATA 0.328 IHH 3549 broad.mit.edu 37 2 219920419 219920419 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:219920419C>T uc002vjo.1 - 3 746 c.746G>A c.(745-747)CGC>CAC p.R249H NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 249 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGAGGCTCGCGGTCCAGGAA 0.647 KIAA1486 57624 broad.mit.edu 37 2 226447162 226447162 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:226447162C>T uc002voe.2 + 4 1204 c.1029C>T c.(1027-1029)CCC>CCT p.P343P KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.P113P NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 343 Pro-rich. ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) CCCCCGCCCCCGTGCATTGCT 0.632 SP140 11262 broad.mit.edu 37 2 231150516 231150516 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:231150516C>T uc002vql.2 + 17 1729 c.1614C>T c.(1612-1614)AAC>AAT p.N538N SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.N424N|SP140_uc002vqm.2_Silent_p.N478N|SP140_uc010fxl.2_Silent_p.N511N NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 538 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGAAGGCGAACGTGAATCTGA 0.448 GPR55 9290 broad.mit.edu 37 2 231775308 231775308 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:231775308G>A uc002vrg.2 - 2 563 c.370C>T c.(370-372)CGT>TGT p.R124C GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.R124C NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 124 Cytoplasmic (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) AGCGGGTAACGGATGGCCAAG 0.582 ARL4C 10123 broad.mit.edu 37 2 235405084 235405084 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:235405084G>A uc002vvn.2 - 1 610 c.147C>T c.(145-147)ACC>ACT p.T49T ARL4C_uc002vvm.3_Silent_p.T49T NM_005737 NP_005728 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 49 endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity skin(1) 1 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) TGATCTTCTCGGTGTTGAAGC 0.612 COL6A3 1293 broad.mit.edu 37 2 238280505 238280505 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:238280505G>A uc002vwl.2 - 9 4440 c.4155C>T c.(4153-4155)CCC>CCT p.P1385P COL6A3_uc002vwo.2_Silent_p.P1179P|COL6A3_uc010znj.1_Silent_p.P778P|COL6A3_uc002vwq.2_Silent_p.P1179P|COL6A3_uc002vwr.2_Silent_p.P978P NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1385 VWFA 7.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACACATATTCGGGGCTCAGCG 0.617 ESPNL 339768 broad.mit.edu 37 2 239040289 239040289 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:239040289C>T uc002vxq.3 + 9 3044 c.2934C>T c.(2932-2934)AAC>AAT p.N978N ESPNL_uc010fyw.2_Silent_p.N674N NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN espin-like 978 pancreas(1) 1 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GCAGCTTCAACGGTGAGGACA 0.637 HDAC4 9759 broad.mit.edu 37 2 240085512 240085512 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:240085512G>A uc002vyk.3 - 6 1390 c.598C>T c.(598-600)CGC>TGC p.R200C HDAC4_uc010fyz.1_Missense_Mutation_p.R195C|HDAC4_uc010zoa.1_Missense_Mutation_p.R195C|HDAC4_uc010fza.2_Missense_Mutation_p.R200C|HDAC4_uc010fyy.2_Missense_Mutation_p.R152C|HDAC4_uc010znz.1_Missense_Mutation_p.R83C NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 200 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TACCAGTAGCGAGGGTCGCTG 0.567 GPR35 2859 broad.mit.edu 37 2 241570285 241570285 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:241570285G>A uc002vzs.1 + 1 1491 c.916G>A c.(916-918)GTG>ATG p.V306M GPR35_uc010fzh.1_Missense_Mutation_p.V337M|GPR35_uc010fzi.1_Missense_Mutation_p.V337M NM_005301 NP_005292 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 306 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity skin(2)|pancreas(1) 3 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CTCTCTGTGCGTGACCCTCGC 0.642 PASK 23178 broad.mit.edu 37 2 242080005 242080005 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:242080005T>C uc002wao.1 - 3 452 c.360A>G c.(358-360)TCA>TCG p.S120S PASK_uc010zol.1_Intron|PASK_uc010zom.1_Silent_p.S120S|PASK_uc010fzl.1_Silent_p.S120S|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Silent_p.S120S NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 120 PAS 1. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GAAGCAGAGGTGAGGACCACC 0.612 DEFB125 245938 broad.mit.edu 37 20 76838 76838 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:76838A>G uc002wcw.2 + 2 251 c.251A>G c.(250-252)GAT>GGT p.D84G NM_153325 NP_697020 Q8N687 DB125_HUMAN defensin, beta 125 preproprotein 84 defense response to bacterium extracellular region ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) GATTATAGTGATGTGGACTCT 0.368 FASTKD5 60493 broad.mit.edu 37 20 3129630 3129630 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:3129630T>C uc002whz.2 - 2 398 c.87A>G c.(85-87)TCA>TCG p.S29S uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 29 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity 0 CATTCCAGTATGACACACTTC 0.463 SIGLEC1 6614 broad.mit.edu 37 20 3678776 3678776 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:3678776G>T uc002wja.2 - 8 1791 c.1791C>A c.(1789-1791)CCC>CCA p.P597P SIGLEC1_uc002wiz.3_Silent_p.P597P NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 597 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 GTTGTCGAGGGGGGTCTGCAG 0.637 HAO1 54363 broad.mit.edu 37 20 7866403 7866403 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:7866403C>T uc002wmw.1 - 6 946 c.922G>A c.(922-924)GCC>ACC p.A308T HAO1_uc010gbu.2_Missense_Mutation_p.A308T NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 308 FMN hydroxy acid dehydrogenase.|FMN (By similarity). cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 ACAGCCTTGGCGCCAAGAGCC 0.483 SPTLC3 55304 broad.mit.edu 37 20 13053052 13053052 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:13053052C>T uc002wod.1 + 3 741 c.452C>T c.(451-453)ACG>ATG p.T151M NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 151 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) TATAACTGGACGTTTAGGTGA 0.463 RRBP1 6238 broad.mit.edu 37 20 17617341 17617341 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:17617341C>T uc002wpv.1 - 7 1273 c.919G>A c.(919-921)GGG>AGG p.G307R RRBP1_uc002wpu.2_Missense_Mutation_p.G81R|RRBP1_uc002wpw.1_Missense_Mutation_p.G307R|RRBP1_uc010gcl.1_Missense_Mutation_p.G81R|RRBP1_uc010gcm.1_5'UTR NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 740 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 TTGGCCTCCCCGGCTGCTGCT 0.622 PAX1 5075 broad.mit.edu 37 20 21687400 21687400 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:21687400G>A uc002wsj.2 + 2 665 c.611G>A c.(610-612)GGC>GAC p.G204D PAX1_uc010zsl.1_Missense_Mutation_p.G204D|PAX1_uc010zsm.1_Missense_Mutation_p.G180D NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 204 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 CTGGCCGACGGCGTCTGTGAC 0.627 MYH7B 57644 broad.mit.edu 37 20 33572917 33572917 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:33572917G>A uc002xbi.1 + 11 1008 c.916G>A c.(916-918)GCG>ACG p.A306T NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 264 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCTGGCATCCGCGGATATTGA 0.642 FAM83C 128876 broad.mit.edu 37 20 33876355 33876355 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:33876355A>G uc010zux.1 - 3 833 c.715T>C c.(715-717)TAC>CAC p.Y239H FAM83C_uc002xcb.1_Missense_Mutation_p.Y63H NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 239 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) TTGCTGCAGTATGTGTCCCCA 0.607 SPAG4 6676 broad.mit.edu 37 20 34206915 34206915 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:34206915C>T uc002xdb.1 + 8 905 c.788C>T c.(787-789)TCT>TTT p.S263F SPAG4_uc010zvi.1_Missense_Mutation_p.S186F NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 263 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GCTTTGAGCTCTGTGGGTAAG 0.458 BPI 671 broad.mit.edu 37 20 36962864 36962864 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:36962864T>C uc002xib.2 + 13 1379 c.1317T>C c.(1315-1317)ATT>ATC p.I439I NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 439 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) TGAACTACATTGTACCCATTC 0.512 JPH2 57158 broad.mit.edu 37 20 42788504 42788504 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:42788504C>T uc002xli.1 - 2 1796 c.923G>A c.(922-924)CGC>CAC p.R308H NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 308 MORN 7.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCACTGGAGCGTTCGCTCAC 0.672 R3HDML 140902 broad.mit.edu 37 20 42973914 42973914 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:42973914A>G uc002xls.1 + 4 697 c.525A>G c.(523-525)GCA>GCG p.A175A NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like precursor 175 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) TGGTGTGGGCATCCTCCAATC 0.587 PABPC1L 80336 broad.mit.edu 37 20 43545420 43545420 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:43545420C>T uc010ggv.1 + 3 493 c.411C>T c.(409-411)TCC>TCT p.S137S PABPC1L_uc010zwq.1_RNA NM_001124756 NP_001118228 Q4VXU2 PAP1L_HUMAN poly(A)-binding protein, cytoplasmic 1-like 137 RRM 2. nucleotide binding|RNA binding ovary(1) 1 AGCATGGCTCCCGGGGTTTCG 0.557 PREX1 57580 broad.mit.edu 37 20 47269921 47269921 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:47269921C>T uc002xtw.1 - 20 2347 c.2324G>A c.(2323-2325)CGG>CAG p.R775Q PREX1_uc002xtv.1_Missense_Mutation_p.R72Q NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 775 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCGCCGACTCCGGAATGCCTG 0.592 CSE1L 1434 broad.mit.edu 37 20 47688929 47688929 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:47688929G>A uc002xty.2 + 9 1009 c.875G>A c.(874-876)CGT>CAT p.R292H CSE1L_uc010zyg.1_Missense_Mutation_p.R75H|CSE1L_uc010ghx.2_Intron|CSE1L_uc010ghy.2_5'UTR|CSE1L_uc010zyh.1_5'Flank NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 292 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TACCTGCCTCGTTTTGTTACA 0.398 KCNB1 3745 broad.mit.edu 37 20 47991257 47991257 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:47991257G>A uc002xur.1 - 2 1004 c.840C>T c.(838-840)ACC>ACT p.T280T KCNB1_uc002xus.1_Silent_p.T280T NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 280 Helical; Name=Segment S3; (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGTTGGATTCGGTGAGGAAAA 0.522 MC3R 4159 broad.mit.edu 37 20 54824454 54824454 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:54824454C>T uc002xxb.2 + 1 667 c.555C>T c.(553-555)AGC>AGT p.S185S NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 222 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) ACTCGGAGAGCAAAATGGTCA 0.567 AURKA 6790 broad.mit.edu 37 20 54956591 54956591 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:54956591A>G uc002xxd.1 - 8 1169 c.603T>C c.(601-603)CAT>CAC p.H201H AURKA_uc002xxe.1_Silent_p.H201H|AURKA_uc002xxf.1_Silent_p.H201H|AURKA_uc002xxg.1_Silent_p.H201H|AURKA_uc002xxh.1_Silent_p.H201H|AURKA_uc002xxi.1_Silent_p.H201H|AURKA_uc002xxj.1_Silent_p.H201H|AURKA_uc002xxk.1_Silent_p.H201H|AURKA_uc010zzd.1_RNA NM_198433 NP_940835 O14965 AURKA_HUMAN serine/threonine protein kinase 6 201 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1) 8 Colorectal(105;0.202) TGGTAGCATCATGGAAATAAC 0.373 C20orf43 51507 broad.mit.edu 37 20 55059239 55059239 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:55059239C>T uc002xxt.2 + 5 578 c.471C>T c.(469-471)TGC>TGT p.C157C C20orf43_uc010zzf.1_Silent_p.C187C|C20orf43_uc002xxu.2_Silent_p.C157C|C20orf43_uc002xxv.2_Silent_p.C157C NM_016407 NP_057491 Q9BY42 CT043_HUMAN hypothetical protein LOC51507 157 ovary(1) 1 Colorectal(105;0.202) CGGAAGTTTGCCACACGGTGA 0.478 CTSZ 1522 broad.mit.edu 37 20 57576650 57576650 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:57576650G>A uc002yai.2 - 3 483 c.357C>T c.(355-357)TCC>TCT p.S119S CTSZ_uc002yaj.3_Silent_p.S119S NM_001336 NP_001327 Q9UBR2 CATZ_HUMAN cathepsin Z preproprotein 119 proteolysis endoplasmic reticulum|extracellular space|lysosome cysteine-type endopeptidase activity kidney(1) 1 all_lung(29;0.00711) Colorectal(105;0.109) CGTTCTGCACGGACAGGAGGG 0.602 ZBTB46 140685 broad.mit.edu 37 20 62421541 62421541 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:62421541G>A uc002ygv.1 - 2 771 c.570C>T c.(568-570)CAC>CAT p.H190H ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) TCCCTCCGTCGTGACAGCTGG 0.622 UCKL1 54963 broad.mit.edu 37 20 62572046 62572046 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:62572046G>A uc010gkn.2 - 12 1246 c.1203C>T c.(1201-1203)CGC>CGT p.R401R UCKL1_uc002yhj.2_Silent_p.R44R|UCKL1_uc011abm.1_Silent_p.R386R|UCKL1_uc011abn.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 401 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TTTCACCGGCGCGCAGAATGG 0.682 KRTAP8-1 337879 broad.mit.edu 37 21 32185383 32185383 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr21:32185383G>A uc002you.2 - 1 188 c.156C>T c.(154-156)TTC>TTT p.F52F NM_175857 NP_787053 Q8IUC2 KRA81_HUMAN keratin associated protein 8-1 52 12 X 2 AA repeats of G-[YCGS]. intermediate filament 0 TCCTGTAGCCGAAAGCCCCAC 0.562 SFRS15 57466 broad.mit.edu 37 21 33073415 33073415 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr21:33073415T>C uc002ypd.2 - 7 1096 c.670A>G c.(670-672)ATG>GTG p.M224V SFRS15_uc002ype.2_Missense_Mutation_p.M224V|SFRS15_uc010glu.2_Missense_Mutation_p.M209V|SFRS15_uc002ypf.1_5'UTR|SFRS15_uc002ypg.2_Missense_Mutation_p.M224V NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 224 nucleus nucleotide binding|RNA binding 0 ACCTGAGCCATCACAGCATTG 0.448 MRAP 56246 broad.mit.edu 37 21 33684248 33684248 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr21:33684248G>A uc002ypj.2 + 5 647 c.460G>A c.(460-462)GTC>ATC p.V154I MRAP_uc002ypk.2_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.1_Missense_Mutation_p.V95I|MRAP_uc002ypl.2_Missense_Mutation_p.V154I NM_178817 NP_848932 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 154 Extracellular (Potential). positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding 0 GGGTCCCCTCGTCAGGAGCAA 0.602 GART 2618 broad.mit.edu 37 21 34907049 34907049 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr21:34907049C>T uc002yrx.2 - 4 387 c.252G>A c.(250-252)GGG>GGA p.G84G GART_uc002yrz.2_Silent_p.G84G|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Silent_p.G84G|GART_uc002ysa.2_Silent_p.G84G NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 84 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) ACCTCAGGTTCCCAACAATCC 0.473 TTC3 7267 broad.mit.edu 37 21 38497038 38497038 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr21:38497038T>C uc002yvz.2 + 14 1334 c.1229T>C c.(1228-1230)CTA>CCA p.L410P TTC3_uc011aee.1_Missense_Mutation_p.L100P|TTC3_uc002ywa.2_Missense_Mutation_p.L410P|TTC3_uc002ywb.2_Missense_Mutation_p.L410P|TTC3_uc010gnf.2_Missense_Mutation_p.L175P|TTC3_uc002ywc.2_Missense_Mutation_p.L100P|TTC3_uc011aed.1_Missense_Mutation_p.L100P|TTC3_uc010gne.1_Missense_Mutation_p.L410P NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 410 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AATCAGAATCTAAAGGTAAGC 0.323 TTC3 7267 broad.mit.edu 37 21 38529174 38529174 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr21:38529174G>A uc002yvz.2 + 28 3063 c.2958G>A c.(2956-2958)TTG>TTA p.L986L TTC3_uc011aee.1_Silent_p.L676L|TTC3_uc002ywa.2_Silent_p.L986L|TTC3_uc002ywb.2_Silent_p.L986L|TTC3_uc010gnf.2_Silent_p.L751L|TTC3_uc002ywc.2_Silent_p.L676L|TTC3_uc002ywd.1_Silent_p.L50L NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 986 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) TCCCAGCATTGCATAGTGCTT 0.378 UMODL1 89766 broad.mit.edu 37 21 43519199 43519199 + Silent SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr21:43519199G>T uc002zaf.1 + 7 1095 c.1095G>T c.(1093-1095)GTG>GTT p.V365V UMODL1_uc002zad.1_Silent_p.V293V|UMODL1_uc002zae.1_Silent_p.V293V|UMODL1_uc002zag.1_Silent_p.V365V|UMODL1_uc010gow.1_Silent_p.V157V|UMODL1_uc002zai.1_Silent_p.V16V|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Silent_p.V16V|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Silent_p.V110V NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 365 Extracellular (Potential).|Fibronectin type-III 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CACTGGCAGTGGCTGGGCTGG 0.597 COL6A2 1292 broad.mit.edu 37 21 47536294 47536294 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr21:47536294G>A uc002zia.1 + 8 986 c.904G>A c.(904-906)GTT>ATT p.V302I COL6A2_uc002zhy.1_Missense_Mutation_p.V302I|COL6A2_uc002zhz.1_Missense_Mutation_p.V302I|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 302 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) CCCCCAGGGCGTTCCTGGCTT 0.667 COL6A2 1292 broad.mit.edu 37 21 47546072 47546072 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr21:47546072G>A uc002zia.1 + 26 2425 c.2343G>A c.(2341-2343)CAG>CAA p.Q781Q COL6A2_uc002zhy.1_Silent_p.Q781Q|COL6A2_uc002zhz.1_Silent_p.Q781Q|COL6A2_uc002zib.1_Silent_p.Q187Q|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 781 VWFA 2.|Nonhelical 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) ACAAGCCACAGCAGGTGCGCA 0.622 UFD1L 7353 broad.mit.edu 37 22 19438229 19438229 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:19438229T>C uc002zpm.2 - 12 1018 c.888A>G c.(886-888)GAA>GAG p.E296E UFD1L_uc002zpo.2_3'UTR|UFD1L_uc011agy.1_3'UTR|UFD1L_uc002zpp.2_3'UTR NM_005659 NP_005650 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1-like isoform A 296 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity 0 Colorectal(54;0.0993) ATGACTGTCCTTCTCCAGAGA 0.398 CLDN5 7122 broad.mit.edu 37 22 19511360 19511360 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:19511360G>A uc002zpu.2 - 2 889 c.674C>T c.(673-675)GCC>GTC p.A225V CLDN5_uc010grr.2_Missense_Mutation_p.A225V NM_003277 NP_003268 O00501 CLD5_HUMAN claudin 5 140 Helical; (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 Colorectal(54;0.0993) GACAATGTTGGCGAACCAGCA 0.687 RTN4R 65078 broad.mit.edu 37 22 20230610 20230610 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:20230610G>A uc002zrv.2 - 2 247 c.46C>T c.(46-48)CTG>TTG p.L16L RTN4R_uc002zru.2_5'UTR NM_023004 NP_075380 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor precursor 16 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity 0 Colorectal(54;0.0993) TGCAGCCACAGCACCCATGCC 0.637 CCDC116 164592 broad.mit.edu 37 22 21988981 21988981 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:21988981T>C uc002zve.2 + 4 722 c.629T>C c.(628-630)CTC>CCC p.L210P CCDC116_uc011aih.1_Missense_Mutation_p.L210P NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 210 ovary(1)|skin(1) 2 Colorectal(54;0.105) CAGAAAGGCCTCAGTCAGTCC 0.607 CABIN1 23523 broad.mit.edu 37 22 24560426 24560426 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:24560426T>C uc002zzi.1 + 30 4932 c.4805T>C c.(4804-4806)ATG>ACG p.M1602T CABIN1_uc002zzj.1_Missense_Mutation_p.M1523T|CABIN1_uc002zzl.1_Missense_Mutation_p.M1602T|CABIN1_uc002zzm.1_Missense_Mutation_p.M27T NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1602 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GCCTGGCACATGAACCGCTCC 0.647 HPS4 89781 broad.mit.edu 37 22 26860141 26860141 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:26860141C>T uc003acl.2 - 11 2114 c.1455G>A c.(1453-1455)ACG>ACA p.T485T HPS4_uc003aci.2_Silent_p.T480T|HPS4_uc003acj.2_Silent_p.T349T|HPS4_uc003ack.2_Silent_p.T276T|HPS4_uc003acn.2_Silent_p.T331T|HPS4_uc010gvd.1_Silent_p.T503T|HPS4_uc003ach.2_Silent_p.T220T NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 485 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 CTTGTTCCCCCGTGGGAAGCT 0.582 Hermansky-Pudlak_syndrome TFIP11 24144 broad.mit.edu 37 22 26890185 26890185 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:26890185T>C uc003acr.2 - 13 2452 c.2078A>G c.(2077-2079)CAA>CGA p.Q693R TFIP11_uc003acq.2_Missense_Mutation_p.Q52R|TFIP11_uc003acs.2_Missense_Mutation_p.Q693R|TFIP11_uc003act.2_Missense_Mutation_p.Q693R|uc003acu.1_RNA NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 693 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity 0 TGCCAGCACTTGGTCTGAGAA 0.473 CHEK2 11200 broad.mit.edu 37 22 29090060 29090060 + Missense_Mutation SNP C C T rs121908706 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:29090060C>T uc003adu.1 - 13 1493 c.1421G>A c.(1420-1422)CGT>CAT p.R474H CHEK2_uc003ads.1_Missense_Mutation_p.R253H|CHEK2_uc010gvh.1_Missense_Mutation_p.R383H|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.R517H|CHEK2_uc003adv.1_Missense_Mutation_p.R445H|CHEK2_uc003adw.1_Missense_Mutation_p.R474H|CHEK2_uc003adx.1_Missense_Mutation_p.R253H|CHEK2_uc003ady.1_Missense_Mutation_p.R463H|CHEK2_uc003adz.1_Missense_Mutation_p.R278H NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 474 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 TGTCGTAAAACGTGCCTTTGG 0.458 F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer EMID1 129080 broad.mit.edu 37 22 29621174 29621174 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:29621174G>A uc003aen.2 + 4 441 c.366G>A c.(364-366)CGG>CGA p.R122R EMID1_uc003aem.2_Silent_p.R124R|EMID1_uc003aeo.2_Silent_p.R124R|EMID1_uc003aep.2_Silent_p.R124R NM_133455 NP_597712 Q96A84 EMID1_HUMAN EMI domain containing 1 122 collagen 0 GTACCATGCGGCGGATGGCGC 0.642 PATZ1 23598 broad.mit.edu 37 22 31723054 31723054 + Silent SNP G G A rs139600326 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:31723054G>A uc003akq.2 - 5 2548 c.1887C>T c.(1885-1887)GTC>GTT p.V629V PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Silent_p.V583V NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 629 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 CGAGAGCCCGGACATGCACCT 0.562 SLC5A4 6527 broad.mit.edu 37 22 32616985 32616985 + Missense_Mutation SNP G G A rs139861447 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:32616985G>A uc003ami.2 - 14 1692 c.1690C>T c.(1690-1692)CGG>TGG p.R564W NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 564 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 GTACTGTTCCGAAGAACCCAG 0.398 RFPL3 10738 broad.mit.edu 37 22 32754283 32754283 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:32754283T>C uc003amj.2 + 1 430 c.225T>C c.(223-225)GAT>GAC p.D75D RFPL3_uc010gwn.2_Silent_p.D46D NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 75 RING-type. zinc ion binding ovary(1) 1 ATGGGGAGGATCTGCTTTGCT 0.532 IL2RB 3560 broad.mit.edu 37 22 37531453 37531453 + Missense_Mutation SNP C C T rs141482021 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:37531453C>T uc003aqv.1 - 8 864 c.733G>A c.(733-735)GGC>AGC p.G245S NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 245 Helical; (Potential). interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) AGGAGGTGGCCGAGCCACGGA 0.592 MICALL1 85377 broad.mit.edu 37 22 38322025 38322025 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:38322025G>A uc003aui.2 + 8 1524 c.1440G>A c.(1438-1440)CCG>CCA p.P480P NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 480 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) GCCCTGCCCCGCGCGCACCCA 0.706 KCNJ4 3761 broad.mit.edu 37 22 38823343 38823343 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:38823343G>A uc003avs.1 - 2 892 c.795C>T c.(793-795)ATC>ATT p.I265I KCNJ4_uc003avt.1_Silent_p.I265I NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 265 Cytoplasmic (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) TGTCCTCGTCGATCTCGTGGA 0.617 PDGFB 5155 broad.mit.edu 37 22 39627801 39627801 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:39627801G>A uc003axf.2 - 4 1271 c.282C>T c.(280-282)ATC>ATT p.I94I PDGFB_uc003axe.2_Silent_p.I79I NM_002608 NP_002599 P01127 PDGFB_HUMAN platelet-derived growth factor beta isoform 1 94 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(1) 373 Melanoma(58;0.04) Becaplermin(DB00102) TGCACTCGGCGATCATGGCCG 0.647 T COL1A1 DFSP MCHR1 2847 broad.mit.edu 37 22 41077613 41077613 + Missense_Mutation SNP G G A rs45439291 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:41077613G>A uc003ayz.2 + 2 1218 c.950G>A c.(949-951)CGG>CAG p.R317Q MCHR1_uc003aza.2_Missense_Mutation_p.R206Q|uc003azb.1_RNA NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 317 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 CGCAGCATCCGGCTGCGGACA 0.612 ZC3H7B 23264 broad.mit.edu 37 22 41753226 41753226 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:41753226C>T uc003azw.2 + 23 2943 c.2727C>T c.(2725-2727)TGC>TGT p.C909C ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 925 C3H1-type 4.|Potential. interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 AGTGCCGCTGCGCCCATGGAC 0.662 SCUBE1 80274 broad.mit.edu 37 22 43623396 43623396 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:43623396G>A uc003bdt.1 - 10 1279 c.1191C>T c.(1189-1191)AAC>AAT p.N397N NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 397 EGF-like 9; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) AATCCTTCCCGTTCCAGTGGA 0.662 EFCAB6 64800 broad.mit.edu 37 22 44063056 44063056 + Silent SNP C C T rs150612043 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:44063056C>T uc003bdy.1 - 17 2126 c.1911G>A c.(1909-1911)CCG>CCA p.P637P EFCAB6_uc003bdz.1_Silent_p.P485P|EFCAB6_uc010gzi.1_Silent_p.P485P|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 637 EF-hand 7. 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) TTTTGAATGCCGGGTCCTGCT 0.403 CELSR1 9620 broad.mit.edu 37 22 46932131 46932131 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:46932131G>A uc003bhw.1 - 1 937 c.937C>T c.(937-939)CGC>TGC p.R313C NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 313 Extracellular (Potential).|Cadherin 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TTGGTCTCGCGGTCCAGTACG 0.627 BRD1 23774 broad.mit.edu 37 22 50192691 50192691 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:50192691C>T uc003biv.2 - 3 2088 c.1601G>A c.(1600-1602)CGC>CAC p.R534H BRD1_uc011arf.1_Missense_Mutation_p.R129H|BRD1_uc011arg.1_Missense_Mutation_p.R588H|BRD1_uc011arh.1_Missense_Mutation_p.R534H|BRD1_uc003biu.3_Missense_Mutation_p.R534H NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 534 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CAGGCGAGCGCGCTCCAGGTC 0.622 SAPS2 9701 broad.mit.edu 37 22 50882340 50882340 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:50882340G>A uc003blb.1 + 24 3068 c.2646G>A c.(2644-2646)GCG>GCA p.A882A SAPS2_uc003bky.1_Silent_p.A849A|SAPS2_uc003bkz.1_Silent_p.A848A|SAPS2_uc003blc.2_Silent_p.A875A|SAPS2_uc003bla.1_Silent_p.A849A|SAPS2_uc003bld.1_Silent_p.A408A NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 882 cytoplasm|intracellular membrane-bounded organelle protein binding 0 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;0.222) CCTGCCCCGCGCCAAAGGAAG 0.677 CPT1B 1375 broad.mit.edu 37 22 51012809 51012809 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:51012809T>G uc003bmk.3 - 8 1087 c.925A>C c.(925-927)ATG>CTG p.M309L CPT1B_uc003bml.2_Missense_Mutation_p.M309L|CPT1B_uc003bmm.2_Missense_Mutation_p.M309L|CPT1B_uc003bmo.2_Missense_Mutation_p.M309L|CPT1B_uc011asa.1_Missense_Mutation_p.M275L|CPT1B_uc003bmn.2_Missense_Mutation_p.M309L|CPT1B_uc011asb.1_Missense_Mutation_p.M309L|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.M106L NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 309 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) ATCCTCTCCATCTGGTAGGAG 0.612 SHANK3 85358 broad.mit.edu 37 22 51160556 51160556 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:51160556C>T uc003bne.1 + 22 4343 c.4343C>T c.(4342-4344)CCG>CTG p.P1448L SHANK3_uc003bnf.1_Missense_Mutation_p.P895L|SHANK3_uc010hbg.1_Missense_Mutation_p.P630L NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1448 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TTCAGGGACCCGCTGCTGAAG 0.682 AZI2 64343 broad.mit.edu 37 3 28382055 28382055 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:28382055A>G uc003ceb.2 - 2 586 c.54T>C c.(52-54)CAT>CAC p.H18H AZI2_uc003cec.2_5'UTR|AZI2_uc003ced.2_Silent_p.H18H|AZI2_uc003cee.3_Silent_p.H18H|AZI2_uc003ceg.2_Silent_p.H18H|AZI2_uc011axd.1_Silent_p.H18H|AZI2_uc003cef.2_Silent_p.H18H NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 18 mitochondrion|plasma membrane ovary(2) 2 TATCTCTCTTATGGGCTTTTT 0.358 VILL 50853 broad.mit.edu 37 3 38039623 38039623 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:38039623G>A uc003chj.2 + 8 1093 c.807G>A c.(805-807)GCG>GCA p.A269A VILL_uc003chk.1_Silent_p.A269A|VILL_uc003chl.2_Silent_p.A269A|VILL_uc010hgu.2_Silent_p.A99A NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 269 Gelsolin-like 3. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGGAGTTGGCGACCCCCCCAC 0.637 DLEC1 9940 broad.mit.edu 37 3 38159361 38159361 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:38159361A>G uc003cho.1 + 33 4571 c.4550A>G c.(4549-4551)TAC>TGC p.Y1517C DLEC1_uc003chp.1_Missense_Mutation_p.Y1517C|DLEC1_uc010hgv.1_Missense_Mutation_p.Y1520C|DLEC1_uc003chr.1_Missense_Mutation_p.Y588C|DLEC1_uc003chs.1_Missense_Mutation_p.Y74C NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 1517 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ATCCCACACTACTTCCGGCTT 0.597 OREG0015476 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DLEC1 9940 broad.mit.edu 37 3 38163206 38163206 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:38163206C>T uc003cho.1 + 35 4975 c.4954C>T c.(4954-4956)CAG>TAG p.Q1652* DLEC1_uc003chp.1_Nonsense_Mutation_p.Q1652*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.Q1655*|DLEC1_uc003chr.1_Nonsense_Mutation_p.Q723*|DLEC1_uc003chs.1_Nonsense_Mutation_p.Q209* NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 1652 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TGTGAGCCAGCAGCGAGTCCG 0.632 XIRP1 165904 broad.mit.edu 37 3 39227496 39227496 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:39227496G>A uc003cjk.1 - 2 3662 c.3441C>T c.(3439-3441)CCC>CCT p.P1147P XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1147 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGGTCCTCACGGGATGAGCGG 0.622 KLHL18 23276 broad.mit.edu 37 3 47378111 47378111 + Missense_Mutation SNP G G A rs149811108 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:47378111G>A uc003crd.2 + 7 1111 c.985G>A c.(985-987)GTT>ATT p.V329I KLHL18_uc003crc.2_Missense_Mutation_p.V329I|KLHL18_uc011bav.1_Missense_Mutation_p.V217I|KLHL18_uc010hjq.1_Missense_Mutation_p.V185I NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 329 Kelch 1. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) CCGCAGCCGCGTTGGCGTGGC 0.567 CELSR3 1951 broad.mit.edu 37 3 48698477 48698477 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:48698477C>T uc003cul.2 - 1 1872 c.1591G>A c.(1591-1593)GTA>ATA p.V531I CELSR3_uc003cuf.1_Missense_Mutation_p.V601I NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 531 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTTATGTGTACGCGCACAGTG 0.642 ARIH2 10425 broad.mit.edu 37 3 49008080 49008080 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:49008080G>A uc003cvb.2 + 8 1025 c.713G>A c.(712-714)CGG>CAG p.R238Q ARIH2_uc003cvc.2_Missense_Mutation_p.R238Q|ARIH2_uc003cvf.2_Missense_Mutation_p.R156Q|ARIH2_uc010hkl.2_Missense_Mutation_p.R238Q NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 238 IBR-type. developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) ATGGTTATTCGGGTACAGGAG 0.547 BSN 8927 broad.mit.edu 37 3 49690307 49690307 + Silent SNP G G A rs139466364 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:49690307G>A uc003cxe.3 + 5 3432 c.3318G>A c.(3316-3318)ACG>ACA p.T1106T NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1106 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCTCCCCGACGGAGGAGCTGA 0.647 RAD54L2 23132 broad.mit.edu 37 3 51690036 51690036 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:51690036G>A uc011bdt.1 + 19 3201 c.3076G>A c.(3076-3078)GTG>ATG p.V1026M RAD54L2_uc003dbh.2_Missense_Mutation_p.V615M|RAD54L2_uc011bdu.1_Missense_Mutation_p.V720M|RAD54L2_uc003dbj.2_Missense_Mutation_p.V352M NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 1026 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TGTTCGTCCTGTGCAGTCCAC 0.507 RAD54L2 23132 broad.mit.edu 37 3 51696526 51696526 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:51696526C>T uc011bdt.1 + 22 3619 c.3494C>T c.(3493-3495)GCC>GTC p.A1165V RAD54L2_uc003dbh.2_Missense_Mutation_p.A754V|RAD54L2_uc011bdu.1_Missense_Mutation_p.A859V|RAD54L2_uc003dbj.2_Missense_Mutation_p.A491V NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 1165 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GAGGGGCTGGCCAGGCCCGTC 0.607 WDR82 80335 broad.mit.edu 37 3 52292564 52292564 + Silent SNP C C T rs141471824 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:52292564C>T uc003ddl.2 - 8 1182 c.900G>A c.(898-900)GCG>GCA p.A300A WDR82_uc003ddk.2_Silent_p.A225A NM_025222 NP_079498 Q6UXN9 WDR82_HUMAN WD repeat domain 82 300 WD 6. histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding 0 BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) TGTTGGAACACGCACTGGCAA 0.493 PRICKLE2 166336 broad.mit.edu 37 3 64133273 64133273 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:64133273A>G uc003dmf.2 - 7 1479 c.893T>C c.(892-894)CTC>CCC p.L298P NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 298 LIM zinc-binding 3. cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CTGCTTCGGGAGGAATGGCCG 0.582 FRMD4B 23150 broad.mit.edu 37 3 69230203 69230203 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:69230203G>A uc003dnv.2 - 21 2988 c.2698C>T c.(2698-2700)CGT>TGT p.R900C FRMD4B_uc003dnw.2_RNA|FRMD4B_uc003dnu.2_Missense_Mutation_p.R552C|FRMD4B_uc011bga.1_Missense_Mutation_p.R744C NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 900 cytoplasm|cytoskeleton binding ovary(3)|central_nervous_system(1) 4 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) TACCAGCCACGCAAGTGCTCG 0.572 ROBO2 6092 broad.mit.edu 37 3 77671492 77671492 + Silent SNP C C T rs2272164 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:77671492C>T uc003dpy.3 + 23 4312 c.3669C>T c.(3667-3669)GAC>GAT p.D1223D ROBO2_uc003dpz.2_Silent_p.D1227D|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.D1227D NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1223 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATGCCGACGACGAAGAGGAAG 0.502 CGGBP1 8545 broad.mit.edu 37 3 88105087 88105087 + Missense_Mutation SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:88105087G>C uc003dqs.2 - 4 552 c.40C>G c.(40-42)CGT>GGT p.R14G CGGBP1_uc003dqt.2_Missense_Mutation_p.R14G|CGGBP1_uc003dqu.2_Missense_Mutation_p.R14G NM_001008390 NP_001008391 Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding 0 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) GTCTTAGAACGGTTTCGAGCA 0.413 TMPRSS7 344805 broad.mit.edu 37 3 111795816 111795816 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:111795816C>T uc010hqb.2 + 14 1841 c.1671C>T c.(1669-1671)CAC>CAT p.H557H TMPRSS7_uc011bhr.1_Silent_p.H412H NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 683 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 TTGTGGTCCACGAGTACTATA 0.478 CCDC80 151887 broad.mit.edu 37 3 112358275 112358275 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:112358275A>C uc003dzf.2 - 2 696 c.478T>G c.(478-480)TCG>GCG p.S160A CCDC80_uc011bhv.1_Missense_Mutation_p.S160A|CCDC80_uc003dzg.2_Missense_Mutation_p.S160A|CCDC80_uc003dzh.1_Missense_Mutation_p.S160A NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 160 ovary(2) 2 TAGCCTTCCGAGGCATGAGGG 0.557 BOC 91653 broad.mit.edu 37 3 112969433 112969433 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:112969433G>A uc003dzx.2 + 4 750 c.129G>A c.(127-129)GCG>GCA p.A43A BOC_uc010hqi.2_Silent_p.A43A|BOC_uc003dzy.2_Silent_p.A43A|BOC_uc003dzz.2_Silent_p.A43A|BOC_uc003dzw.1_Silent_p.A43A|BOC_uc003eaa.1_Silent_p.A43A NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 43 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) TCCAGCCTGCGTCCACCGTCC 0.552 KIAA2018 205717 broad.mit.edu 37 3 113379374 113379374 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:113379374A>G uc003eam.2 - 7 1566 c.1155T>C c.(1153-1155)CCT>CCC p.P385P KIAA2018_uc003eal.2_Silent_p.P329P NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 385 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GAGTGCTTATAGGAATGGTGG 0.428 PLXNA1 5361 broad.mit.edu 37 3 126730836 126730836 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:126730836C>T uc003ejg.2 + 9 2083 c.2079C>T c.(2077-2079)TAC>TAT p.Y693Y NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 716 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CGCAGATCTACGTGCCAGTGG 0.617 EEFSEC 60678 broad.mit.edu 37 3 128060255 128060255 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:128060255A>G uc003eki.2 + 5 1004 c.966A>G c.(964-966)ATA>ATG p.I322M EEFSEC_uc003ekj.2_Missense_Mutation_p.I267M NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 322 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 TGGAAAAGATACCGTATTTCC 0.582 PIK3R4 30849 broad.mit.edu 37 3 130447382 130447382 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:130447382A>G uc003enj.2 - 6 2313 c.1732T>C c.(1732-1734)TTG>CTG p.L578L NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 578 HEAT 3. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 ATGTGGGACAACAAAACATCG 0.353 DZIP1L 199221 broad.mit.edu 37 3 137822357 137822357 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:137822357G>T uc003erq.2 - 2 820 c.457C>A c.(457-459)CTG>ATG p.L153M DZIP1L_uc003err.1_Missense_Mutation_p.L153M NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 153 intracellular zinc ion binding ovary(1)|pancreas(1) 2 AGCTGCTGCAGGGTGCTGATC 0.662 PRR23B 389151 broad.mit.edu 37 3 138738987 138738987 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:138738987C>T uc003esy.1 - 1 782 c.517G>A c.(517-519)GGC>AGC p.G173S NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 173 breast(1) 1 GCGGCTGAGCCGGTTGGGGAG 0.652 ATP1B3 483 broad.mit.edu 37 3 141632589 141632589 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:141632589A>T uc003eug.1 + 4 616 c.442A>T c.(442-444)ATT>TTT p.I148F ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.I134F NM_001679 NP_001670 P54709 AT1B3_HUMAN Na+/K+ -ATPase beta 3 subunit 148 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity 0 TCAGTTTCCTATTTCATTACT 0.378 ATR 545 broad.mit.edu 37 3 142266679 142266679 + Missense_Mutation SNP C C T rs146504354 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:142266679C>T uc003eux.3 - 16 3367 c.3245G>A c.(3244-3246)CGT>CAT p.R1082H NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1082 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|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 lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TTCTCCAATACGCAGCAATAA 0.373 Other_conserved_DNA_damage_response_genes PLS1 5357 broad.mit.edu 37 3 142388367 142388367 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:142388367G>A uc010huv.2 + 3 365 c.206G>A c.(205-207)GGC>GAC p.G69D PLS1_uc003euz.2_Missense_Mutation_p.G69D|PLS1_uc003eva.2_Missense_Mutation_p.G69D NM_001145319 NP_001138791 Q14651 PLSI_HUMAN plastin 1 69 2 (Potential).|EF-hand 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(1) 1 AACAAAGATGGCAAAATCAGT 0.418 TRPC1 7220 broad.mit.edu 37 3 142524988 142524988 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:142524988C>T uc003evc.2 + 13 2429 c.2293C>T c.(2293-2295)CGC>TGC p.R765C TRPC1_uc003evb.2_Missense_Mutation_p.R731C NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 765 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AAACGAACTGCGCCAAGATCT 0.373 TRPC1 7220 broad.mit.edu 37 3 142525010 142525010 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:142525010G>A uc003evc.2 + 13 2451 c.2315G>A c.(2314-2316)CGA>CAA p.R772Q TRPC1_uc003evb.2_Missense_Mutation_p.R738Q NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 772 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 TCAAAATTCCGAAATGAAATA 0.363 ZIC4 84107 broad.mit.edu 37 3 147113919 147113919 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:147113919G>A uc003ewd.1 - 3 681 c.408C>T c.(406-408)GAC>GAT p.D136D ZIC4_uc003ewc.1_Silent_p.D66D|ZIC4_uc011bno.1_Silent_p.D186D NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 136 C2H2-type 1; atypical. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TCGCGGTGCCGTCGGCCGCCA 0.657 MED12L 116931 broad.mit.edu 37 3 151105932 151105932 + Missense_Mutation SNP G G A rs149611856 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:151105932G>A uc003eyp.2 + 35 5356 c.5318G>A c.(5317-5319)CGC>CAC p.R1773H MED12L_uc011bnz.1_Missense_Mutation_p.R1633H|MED12L_uc003eyy.1_Missense_Mutation_p.R936H NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1773 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGAAGGAAGCGCAAGACGAAA 0.428 NCEH1 57552 broad.mit.edu 37 3 172351525 172351525 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:172351525G>A uc011bpx.1 - 5 1225 c.1087C>T c.(1087-1089)CGC>TGC p.R363C NCEH1_uc003fig.2_Missense_Mutation_p.R355C|NCEH1_uc011bpw.1_Missense_Mutation_p.R190C|NCEH1_uc011bpy.1_Missense_Mutation_p.R190C NM_001146276 NP_001139748 Q6PIU2 NCEH1_HUMAN arylacetamide deacetylase-like 1 isoform a 323 Lumenal (Potential). lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity 0 GGGGCGGAGCGGGCATCCAGC 0.542 PEX5L 51555 broad.mit.edu 37 3 179537729 179537729 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:179537729T>G uc003fki.1 - 9 988 c.858A>C c.(856-858)GAA>GAC p.E286D PEX5L_uc011bqd.1_Missense_Mutation_p.E243D|PEX5L_uc011bqe.1_Missense_Mutation_p.E94D|PEX5L_uc011bqf.1_Missense_Mutation_p.E178D|PEX5L_uc003fkj.1_Missense_Mutation_p.E251D|PEX5L_uc010hxd.1_Missense_Mutation_p.E284D|PEX5L_uc011bqg.1_Missense_Mutation_p.E262D|PEX5L_uc011bqh.1_Missense_Mutation_p.E227D NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 286 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TTTCTTCCCATTCTGCTTGCA 0.428 HTR3E 285242 broad.mit.edu 37 3 183824457 183824457 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:183824457C>T uc010hxq.2 + 9 1813 c.1347C>T c.(1345-1347)ACC>ACT p.T449T HTR3E_uc003fml.3_Silent_p.T434T|HTR3E_uc003fmm.2_Silent_p.T464T|HTR3E_uc010hxr.2_Silent_p.T475T|HTR3E_uc003fmn.2_Silent_p.T449T NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 449 Helical; Name=4; (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTATCATCACCGTCATATGCC 0.582 ECE2 9718 broad.mit.edu 37 3 183994720 183994720 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:183994720G>A uc003fni.3 + 3 559 c.521G>A c.(520-522)CGC>CAC p.R174H ECE2_uc011brg.1_Missense_Mutation_p.R102H|ECE2_uc011brh.1_Missense_Mutation_p.R27H|ECE2_uc003fnl.3_Missense_Mutation_p.R102H|ECE2_uc003fnm.3_Missense_Mutation_p.R56H|ECE2_uc003fnk.3_Missense_Mutation_p.R27H|ECE2_uc011bri.1_Missense_Mutation_p.R89H|ECE2_uc010hxv.2_5'UTR NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 174 Cytoplasmic (Potential). brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTAGGCTCACGCACGCAGCTG 0.592 BCL6 604 broad.mit.edu 37 3 187442794 187442794 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:187442794G>A uc003frp.3 - 9 2369 c.1912C>T c.(1912-1914)CGT>TGT p.R638C BCL6_uc011bsf.1_Missense_Mutation_p.R582C|BCL6_uc010hza.2_Missense_Mutation_p.R536C|BCL6_uc003frq.1_Missense_Mutation_p.R638C NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 638 C2H2-type 5. negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TGCCGGAAACGGGTGCCACAG 0.557 T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL WDR53 348793 broad.mit.edu 37 3 196288243 196288243 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:196288243G>T uc003fwt.2 - 3 575 c.104C>A c.(103-105)GCT>GAT p.A35D NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 35 WD 1. breast(1)|skin(1) 2 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TTCACCCCAAGCCGTGAGATC 0.542 KIAA0226 9711 broad.mit.edu 37 3 197421303 197421303 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:197421303G>A uc003fyc.2 - 10 1810 c.1627C>T c.(1627-1629)CGC>TGC p.R543C KIAA0226_uc003fyd.3_Missense_Mutation_p.R498C|KIAA0226_uc003fye.1_Missense_Mutation_p.R250C|KIAA0226_uc003fyf.2_Missense_Mutation_p.R391C NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 543 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) ATTTGCTGGCGCCGAAGGCGG 0.547 TMEM175 84286 broad.mit.edu 37 4 941596 941596 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:941596C>T uc003gbq.2 + 2 167 c.69C>T c.(67-69)GAC>GAT p.D23D TMEM175_uc010ibl.1_Silent_p.D23D|TMEM175_uc003gbp.1_Translation_Start_Site|TMEM175_uc003gbr.2_Translation_Start_Site|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_Translation_Start_Site|TMEM175_uc003gbt.2_Translation_Start_Site|TMEM175_uc003gbv.2_Intron NM_032326 NP_115702 Q9BSA9 TM175_HUMAN transmembrane protein 175 23 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCAGGAGAGACGAGGACGCTG 0.687 DRD5 1816 broad.mit.edu 37 4 9784294 9784294 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:9784294C>T uc003gmb.3 + 1 1037 c.641C>T c.(640-642)GCA>GTA p.A214V NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 214 Extracellular (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) GACGTGAATGCAGAGAACTGT 0.602 SCFD2 152579 broad.mit.edu 37 4 54140037 54140037 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:54140037C>T uc003gzu.2 - 4 1401 c.1267G>A c.(1267-1269)GCC>ACC p.A423T SCFD2_uc010igm.2_Missense_Mutation_p.A423T NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 423 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) TCCCACTTGGCAGTCTGTGGG 0.448 SRD5A3 79644 broad.mit.edu 37 4 56225592 56225592 + Nonsense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:56225592G>T uc003hau.2 + 2 396 c.301G>T c.(301-303)GGA>TGA p.G101* NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 101 Helical; (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) TCTGTTCCTGGGAGCACCTTT 0.493 AASDH 132949 broad.mit.edu 37 4 57221488 57221488 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:57221488C>T uc003hbn.2 - 6 1116 c.963G>A c.(961-963)GCG>GCA p.A321A AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.A168A|AASDH_uc003hbo.2_Silent_p.A221A|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Silent_p.A321A|AASDH_uc003hbp.2_Silent_p.A321A NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 321 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) ATGATGGAAACGCTTCACCAC 0.413 UGT2B15 7366 broad.mit.edu 37 4 69536157 69536157 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:69536157A>G uc011cal.1 - 1 218 c.180T>C c.(178-180)GCT>GCC p.A60A NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 60 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 CAAGAGTAGAAGCCGAAGATG 0.373 PAQR3 152559 broad.mit.edu 37 4 79841787 79841787 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:79841787G>A uc003hlp.1 - 6 1046 c.842C>T c.(841-843)GCA>GTA p.A281V PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_RNA|PAQR3_uc003hlq.1_Missense_Mutation_p.A163V NM_001040202 NP_001035292 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 281 Helical; (Potential). Golgi membrane|integral to membrane receptor activity 0 CATCACTACTGCAAGGATATG 0.378 GK2 2712 broad.mit.edu 37 4 80329257 80329257 + Missense_Mutation SNP G G A rs140376639 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:80329257G>A uc003hlu.2 - 1 116 c.98C>T c.(97-99)GCG>GTG p.A33V NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 33 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 AAGTAGTTCCGCTGTTTTTGA 0.493 C4orf22 255119 broad.mit.edu 37 4 81866027 81866027 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:81866027C>T uc003hmf.2 + 5 589 c.540C>T c.(538-540)GCC>GCT p.A180A C4orf22_uc010ijp.2_Silent_p.A197A NM_152770 NP_689983 Q6V702 CD022_HUMAN hypothetical protein LOC255119 180 skin(2) 2 AAGTGATTGCCGATAATCCAG 0.323 PRKG2 5593 broad.mit.edu 37 4 82026979 82026979 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:82026979C>T uc003hmh.2 - 15 2065 c.2051G>A c.(2050-2052)CGG>CAG p.R684Q PRKG2_uc011ccf.1_Missense_Mutation_p.R264Q|PRKG2_uc011ccg.1_Missense_Mutation_p.R264Q|PRKG2_uc011cch.1_Missense_Mutation_p.R655Q NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 684 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GCAAAGCCTCCGAATCAAATC 0.398 SEC31A 22872 broad.mit.edu 37 4 83785628 83785628 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:83785628G>A uc003hnf.2 - 11 1485 c.1321C>T c.(1321-1323)CGA>TGA p.R441* SEC31A_uc003hne.2_Nonsense_Mutation_p.R213*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.R441*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hng.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hni.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.R441*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.R436*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.R441*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.R441*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.R441*|SEC31A_uc003hno.2_Nonsense_Mutation_p.R441* NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 441 Interaction with SEC13. 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) TGGTCTGATCGGCTGAGGAAC 0.433 WDFY3 23001 broad.mit.edu 37 4 85708803 85708803 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:85708803C>T uc003hpd.2 - 23 4141 c.3733G>A c.(3733-3735)GTC>ATC p.V1245I NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1245 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TAGGCATAGACCGTGCTCACC 0.483 PTPN13 5783 broad.mit.edu 37 4 87671685 87671685 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:87671685C>T uc003hpz.2 + 18 3193 c.2713C>T c.(2713-2715)CGA>TGA p.R905* PTPN13_uc003hpy.2_Nonsense_Mutation_p.R905*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R905*|PTPN13_uc003hqb.2_Intron NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 905 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TAATATGGGACGAGCAATCAG 0.468 HERC6 55008 broad.mit.edu 37 4 89311998 89311998 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:89311998G>A uc011cdi.1 + 4 814 c.631G>A c.(631-633)GGG>AGG p.G211R HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.G211R|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 211 RCC1 4. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) TAACAGTGCCGGGCAGCTGGC 0.562 EIF4E 1977 broad.mit.edu 37 4 99812387 99812387 + Splice_Site SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:99812387C>T uc003hue.2 - 3 1744 c.221_splice c.e3+1 p.A74_splice EIF4E_uc011cea.1_Splice_Site_p.A94_splice|EIF4E_uc011ceb.1_Splice_Site_p.A74_splice|EIF4E_uc011cec.1_Splice_Site_p.A74_splice NM_001968 NP_001959 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity lung(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) TGGTTACTTACGCCCAAAAGT 0.294 DNAJB14 79982 broad.mit.edu 37 4 100824920 100824920 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:100824920A>G uc003hvl.2 - 7 1129 c.978T>C c.(976-978)ACT>ACC p.T326T DNAJB14_uc003hvk.2_Silent_p.T241T|DNAJB14_uc010ili.2_Silent_p.T259T NM_001031723 NP_001026893 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 326 protein folding integral to membrane heat shock protein binding|unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) TTCGAATATTAGTCACATAAT 0.303 NFKB1 4790 broad.mit.edu 37 4 103527761 103527761 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:103527761C>T uc011ceq.1 + 17 2325 c.1858C>T c.(1858-1860)CAC>TAC p.H620Y NFKB1_uc011cep.1_Missense_Mutation_p.H621Y|NFKB1_uc011cer.1_Missense_Mutation_p.H440Y NM_003998 NP_003989 P19838 NFKB1_HUMAN nuclear factor kappa-B, subunit 1 isoform 1 620 Interaction with CFLAR.|ANK 3. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|breast(2)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) CTCTGTTTTGCACCTAGCTGC 0.517 SYNPO2 171024 broad.mit.edu 37 4 119952584 119952584 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:119952584A>G uc003icm.3 + 4 2850 c.2654A>G c.(2653-2655)AAG>AGG p.K885R SYNPO2_uc010ina.2_Missense_Mutation_p.K885R|SYNPO2_uc010inb.2_Missense_Mutation_p.K885R|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.K813R NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 885 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 AGAATGGAGAAGTATGTGGTC 0.552 KIAA1109 84162 broad.mit.edu 37 4 123170765 123170765 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:123170765C>T uc003ieh.2 + 34 5683 c.5638C>T c.(5638-5640)CGA>TGA p.R1880* KIAA1109_uc003iek.2_Nonsense_Mutation_p.R499* NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1880 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGATGTAACTCGAATAGGTCC 0.343 INTU 27152 broad.mit.edu 37 4 128628042 128628042 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:128628042C>T uc003ifk.1 + 12 2259 c.2189C>T c.(2188-2190)CCC>CTC p.P730L INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 730 ovary(1) 1 GGCTTTAGCCCCCATACTACA 0.463 PCDH10 57575 broad.mit.edu 37 4 134084227 134084227 + Nonsense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:134084227C>T uc003iha.2 + 4 3719 c.2893C>T c.(2893-2895)CAG>TAG p.Q965* NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 965 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TGATGGACGCCAGGCTGCTGA 0.527 POU4F2 5458 broad.mit.edu 37 4 147561355 147561355 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:147561355G>A uc003ikv.2 + 2 873 c.625G>A c.(625-627)GAC>AAC p.D209N NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 209 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) GGCGGGCCCCGACGGCGCTGT 0.647 PRMT10 90826 broad.mit.edu 37 4 148594871 148594871 + Missense_Mutation SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:148594871T>A uc003ilc.2 - 3 635 c.493A>T c.(493-495)ATT>TTT p.I165F PRMT10_uc003ild.2_Missense_Mutation_p.I52F NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 165 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 GCATTATAAATTGTATTCCTC 0.403 LRBA 987 broad.mit.edu 37 4 151520209 151520209 + Missense_Mutation SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:151520209G>C uc010ipj.2 - 38 6470 c.5996C>G c.(5995-5997)CCT>CGT p.P1999R LRBA_uc003ilt.3_Missense_Mutation_p.P658R|LRBA_uc003ilu.3_Missense_Mutation_p.P1999R NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1999 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) CGATCCTAGAGGGTTACGCAC 0.502 DCHS2 54798 broad.mit.edu 37 4 155241940 155241940 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:155241940A>G uc003inw.2 - 14 3246 c.3246T>C c.(3244-3246)GAT>GAC p.D1082D NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1082 Cadherin 9. 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) AACTGCCGTCATCATCTTTGG 0.443 TKTL2 84076 broad.mit.edu 37 4 164394816 164394816 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:164394816C>T uc003iqp.3 - 1 232 c.71G>A c.(70-72)CGG>CAG p.R24Q NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 24 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGAATGGATCCGCAGGCGGTT 0.602 SCRG1 11341 broad.mit.edu 37 4 174312470 174312470 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:174312470T>C uc003ite.2 - 2 509 c.96A>G c.(94-96)ATA>ATG p.I32M SCRG1_uc003itf.2_RNA NM_007281 NP_009212 O75711 SCRG1_HUMAN stimulator of chondrogenesis 1 precursor 32 nervous system development extracellular space 0 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) GATCTTTTAGTATCTTTCTGT 0.453 SLC6A18 348932 broad.mit.edu 37 5 1243678 1243678 + Silent SNP G G A rs151263479 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:1243678G>A uc003jby.1 + 9 1263 c.1140G>A c.(1138-1140)TCG>TCA p.S380S NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 380 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGAGTGCCTCGGGCCCGGGCC 0.652 SEMA5A 9037 broad.mit.edu 37 5 9190505 9190505 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:9190505G>A uc003jek.2 - 11 1859 c.1147C>T c.(1147-1149)CAT>TAT p.H383Y NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 383 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 ACCACCTCATGCATCAGAATG 0.577 DNAH5 1767 broad.mit.edu 37 5 13871844 13871844 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:13871844G>A uc003jfd.2 - 23 3469 c.3427C>T c.(3427-3429)CGC>TGC p.R1143C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1143 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGATTGTAGCGTTTGAAGCAA 0.343 Kartagener_syndrome TRIO 7204 broad.mit.edu 37 5 14389425 14389425 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:14389425G>A uc003jff.2 + 25 3982 c.3976G>A c.(3976-3978)GTG>ATG p.V1326M TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.V1277M|TRIO_uc003jfh.1_Missense_Mutation_p.V975M NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1326 DH 1. 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) GACCAGTGGCGTGGAAGAGAT 0.398 MYO10 4651 broad.mit.edu 37 5 16701363 16701363 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:16701363C>T uc003jft.3 - 25 3609 c.3141G>A c.(3139-3141)GCG>GCA p.A1047A MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.A404A|MYO10_uc011cne.1_Silent_p.A404A|MYO10_uc010itx.2_Silent_p.A670A NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1047 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CCGTGCTGTCCGCACTGGGGC 0.637 CDH10 1008 broad.mit.edu 37 5 24593378 24593378 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:24593378G>A uc003jgr.1 - 2 554 c.222C>T c.(220-222)TAC>TAT p.Y74Y CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 74 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CCTTGCCTACGTACTGATAAT 0.333 HNSCC(23;0.051) UGT3A2 167127 broad.mit.edu 37 5 36037950 36037950 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:36037950A>G uc003jjz.1 - 6 1337 c.1244T>C c.(1243-1245)CTC>CCC p.L415P UGT3A2_uc011cos.1_Missense_Mutation_p.L381P|UGT3A2_uc011cot.1_Missense_Mutation_p.L113P NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 415 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTCTGCCTTGAGCTTCTTTAA 0.453 EGFLAM 133584 broad.mit.edu 37 5 38352305 38352305 + Nonsense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:38352305C>A uc003jlc.1 + 5 741 c.417C>A c.(415-417)TGC>TGA p.C139* EGFLAM_uc003jlb.1_Nonsense_Mutation_p.C139* NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 139 cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) TAGATTCCTGCCTGCCTCCTG 0.562 HCN1 348980 broad.mit.edu 37 5 45262136 45262136 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:45262136G>A uc003jok.2 - 8 2585 c.2560C>T c.(2560-2562)CGA>TGA p.R854* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 854 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GGGACTCCTCGGTTCGGGGGG 0.632 C5orf35 133383 broad.mit.edu 37 5 56208890 56208890 + Silent SNP G G A rs146080809 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:56208890G>A uc003jqx.2 + 3 892 c.519G>A c.(517-519)CCG>CCA p.P173P C5orf35_uc003jqy.2_RNA NM_153706 NP_714917 Q8NE22 CE035_HUMAN hypothetical protein LOC133383 173 ovary(1) 1 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173) OV - Ovarian serous cystadenocarcinoma(10;2.58e-39) TTGGAAATCCGTTTATTTTTA 0.348 MAP1B 4131 broad.mit.edu 37 5 71490625 71490625 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:71490625G>A uc003kbw.3 + 5 1684 c.1443G>A c.(1441-1443)GCG>GCA p.A481A MAP1B_uc010iyw.1_Silent_p.A498A|MAP1B_uc010iyx.1_Silent_p.A355A|MAP1B_uc010iyy.1_Silent_p.A355A NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 481 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CAAACCCTGCGGAGAAAATCA 0.463 GFM2 84340 broad.mit.edu 37 5 74054702 74054702 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:74054702G>A uc003kdh.1 - 5 580 c.276C>T c.(274-276)TAC>TAT p.Y92Y GFM2_uc003kdi.1_Silent_p.Y92Y|GFM2_uc010izj.1_Silent_p.Y124Y|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Silent_p.Y92Y|GFM2_uc010izl.1_Silent_p.Y92Y NM_032380 NP_115756 Q969S9 RRF2M_HUMAN mitochondrial elongation factor G2 isoform 1 92 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity 0 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) ATCCGGAATAGTACAATATTC 0.363 S100Z 170591 broad.mit.edu 37 5 76171212 76171212 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:76171212G>A uc003kep.1 + 3 358 c.28G>A c.(28-30)GAC>AAC p.D10N S100Z_uc003keq.3_Missense_Mutation_p.D10N NM_130772 NP_570128 Q8WXG8 S100Z_HUMAN S100 calcium binding protein Z 10 calcium ion binding ovary(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40) GATGGCCATGGACACCATGAT 0.532 CMYA5 202333 broad.mit.edu 37 5 79054697 79054697 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:79054697G>T uc003kgc.2 + 7 11304 c.11232G>T c.(11230-11232)GAG>GAT p.E3744D NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3744 Fibronectin type-III 1. perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACTGCATGGAGGAGCCACAAG 0.373 RASGRF2 5924 broad.mit.edu 37 5 80513294 80513294 + Splice_Site SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:80513294T>C uc003kha.1 + 25 3552 c.3552_splice c.e25+2 p.M1184_splice RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_Splice_Site NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATGAGAATGGTAGGTATAATT 0.338 EFNA5 1946 broad.mit.edu 37 5 106717055 106717055 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:106717055G>A uc003kol.2 - 5 870 c.588C>T c.(586-588)GCC>GCT p.A196A NM_001962 NP_001953 P52803 EFNA5_HUMAN ephrin-A5 precursor 196 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding 0 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) GGGATGGCTCGGCTGACTCAT 0.493 PJA2 9867 broad.mit.edu 37 5 108719145 108719145 + Translation_Start_Site SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:108719145G>A uc003kos.3 - 2 210 c.-10C>T c.(-12--8)GACGC>GATGC NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) atatggcagcgtctgtgtgac 0 FSTL4 23105 broad.mit.edu 37 5 132552921 132552921 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:132552921C>A uc003kyn.1 - 13 1826 c.1608G>T c.(1606-1608)CAG>CAT p.Q536H FSTL4_uc003kym.1_Missense_Mutation_p.Q185H NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 536 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) AGAGGTGTACCTGTAGGACTT 0.522 FAM53C 51307 broad.mit.edu 37 5 137677044 137677044 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:137677044A>T uc003lcv.2 + 2 490 c.20A>T c.(19-21)GAG>GTG p.E7V CDC25C_uc011cyp.1_5'Flank|CDC25C_uc003lcs.1_5'Flank|FAM53C_uc003lcw.2_Missense_Mutation_p.E7V|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Intron NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 7 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CTGATCACTGAGCAGCTACAG 0.502 LRRTM2 26045 broad.mit.edu 37 5 138209269 138209269 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:138209269G>A uc011cyz.1 - 2 1438 c.981C>T c.(979-981)GGC>GGT p.G327G CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.G193G|CTNNA1_uc003ldl.2_5'Flank NM_015564 NP_056379 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 327 Extracellular (Potential).|LRRCT. cell junction|integral to membrane|postsynaptic membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTTGGAAACTGCCCAGCCAGG 0.537 PCDHA4 56144 broad.mit.edu 37 5 140186857 140186857 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140186857G>A uc003lhi.2 + 1 186 c.85G>A c.(85-87)GGT>AGT p.G29S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.G29S|PCDHA4_uc011daa.1_Missense_Mutation_p.G29S NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 29 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) GGCAGGGAACGGTCAGCTCCA 0.632 PCDHA4 56144 broad.mit.edu 37 5 140188890 140188890 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140188890G>A uc003lhi.2 + 1 2219 c.2118G>A c.(2116-2118)GCG>GCA p.A706A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A706A|PCDHA4_uc011daa.1_Silent_p.A706A NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 706 Helical; (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) CCATCTGCGCGGTGTCCAGCC 0.672 PCDHA6 56142 broad.mit.edu 37 5 140209767 140209767 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140209767C>T uc003lho.2 + 1 2118 c.2091C>T c.(2089-2091)AAC>AAT p.N697N 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_uc011dab.1_Silent_p.N697N NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 697 Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGATGTCAACGTGTACCTGA 0.682 PCDHA8 56140 broad.mit.edu 37 5 140221046 140221046 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140221046G>A uc003lhs.2 + 1 140 c.140G>A c.(139-141)CGG>CAG p.R47Q 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_uc003lhr.1_Missense_Mutation_p.R47Q NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 47 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGTGGGCCGGATCGCGCAG 0.662 PCDHA11 56138 broad.mit.edu 37 5 140249968 140249968 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140249968G>A uc003lia.2 + 1 2138 c.1280G>A c.(1279-1281)CGG>CAG p.R427Q 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.R427Q NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 427 Cadherin 4.|Extracellular (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) GTGACTGCGCGGGATGGGGGT 0.617 PCDHA11 56138 broad.mit.edu 37 5 140250122 140250122 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140250122G>A uc003lia.2 + 1 2292 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_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A478A NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 478 Extracellular (Potential).|Cadherin 5. 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) CAGTGTCGGCGCGGGACGCGG 0.667 PCDHA12 56137 broad.mit.edu 37 5 140256792 140256792 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140256792G>A uc003lic.2 + 1 1862 c.1735G>A c.(1735-1737)GAG>AAG p.E579K 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_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.E579K NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 579 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGTTAGCGAGTTGGTACC 0.667 PCDHB2 56133 broad.mit.edu 37 5 140475679 140475679 + Silent SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140475679C>A uc003lil.2 + 1 1443 c.1305C>A c.(1303-1305)ACC>ACA p.T435T PCDHB2_uc003lim.1_Silent_p.T96T NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 435 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTGAAAACCGAGCACAACA 0.577 PCDHB7 56129 broad.mit.edu 37 5 140553577 140553577 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140553577C>T uc003lit.2 + 1 1335 c.1161C>T c.(1159-1161)GAC>GAT p.D387D NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 387 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATCCAGGACGATGTCCCCT 0.473 PCDHGA8 9708 broad.mit.edu 37 5 140774370 140774370 + Missense_Mutation SNP G G A rs143444747 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140774370G>A uc003lkd.1 + 1 2888 c.1990G>A c.(1990-1992)GTG>ATG p.V664M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V664M NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 664 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGTAGCCGTGGCTGACAG 0.627 PCDH12 51294 broad.mit.edu 37 5 141325097 141325097 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:141325097G>A uc003llx.2 - 4 4615 c.3404C>T c.(3403-3405)GCG>GTG p.A1135V NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 1135 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCGCAGCGCCTCGGAGGC 0.647 PDGFRB 5159 broad.mit.edu 37 5 149515165 149515165 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:149515165C>T uc003lro.2 - 3 786 c.317G>A c.(316-318)CGT>CAT p.R106H PDGFRB_uc010jhd.2_Translation_Start_Site|PDGFRB_uc011dcg.1_Missense_Mutation_p.R106H NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 106 Extracellular (Potential).|Ig-like C2-type 1. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCCAGTCCACGGGAGTCATT 0.577 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML GRIA1 2890 broad.mit.edu 37 5 153030051 153030051 + Missense_Mutation SNP C C T rs146865938 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:153030051C>T uc003lva.3 + 4 987 c.622C>T c.(622-624)CGC>TGC p.R208C GRIA1_uc003luy.3_Missense_Mutation_p.R208C|GRIA1_uc003luz.3_Missense_Mutation_p.R113C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R128C|GRIA1_uc011dcx.1_Missense_Mutation_p.R139C|GRIA1_uc011dcy.1_Missense_Mutation_p.R218C|GRIA1_uc011dcz.1_Missense_Mutation_p.R218C|GRIA1_uc010jia.1_Missense_Mutation_p.R188C NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 208 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGAATCAGAACGCCTCAATGC 0.527 GEMIN5 25929 broad.mit.edu 37 5 154272096 154272096 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:154272096A>T uc003lvx.3 - 25 3694 c.3611T>A c.(3610-3612)ATT>AAT p.I1204N GEMIN5_uc011ddk.1_Missense_Mutation_p.I1203N NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 1204 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTCATGGCAAATGTGAAGCAG 0.577 PWWP2A 114825 broad.mit.edu 37 5 159520771 159520771 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:159520771G>A uc011ded.1 - 2 943 c.886C>T c.(886-888)CGA>TGA p.R296* PWWP2A_uc003lxv.3_Nonsense_Mutation_p.R296*|PWWP2A_uc011dec.1_Nonsense_Mutation_p.R296* NM_001130864 NP_001124336 Q96N64 PWP2A_HUMAN PWWP domain containing 2A isoform b 296 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGTTTGGGTCGCTTAATTTTC 0.423 MAT2B 27430 broad.mit.edu 37 5 162945289 162945289 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:162945289A>G uc003lzk.2 + 7 1033 c.925A>G c.(925-927)ACA>GCA p.T309A MAT2B_uc003lzj.2_Missense_Mutation_p.T298A|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.2_Missense_Mutation_p.T49A NM_013283 NP_037415 Q9NZL9 MAT2B_HUMAN methionine adenosyltransferase II, beta isoform 309 extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol|methionine adenosyltransferase complex|nucleus dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding upper_aerodigestive_tract(1) 1 Renal(175;0.000281) Medulloblastoma(196;0.0208)|all_neural(177;0.0765) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TGGCCAACGAACACCATTTCG 0.433 DOCK2 1794 broad.mit.edu 37 5 169108866 169108866 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:169108866C>T uc003maf.2 + 7 669 c.589C>T c.(589-591)CGT>TGT p.R197C DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 197 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AATCACAGAGCGTATCAAAGA 0.383 RGS14 10636 broad.mit.edu 37 5 176793219 176793219 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:176793219C>T uc003mgf.2 + 3 291 c.109C>T c.(109-111)CGC>TGC p.R37C RGS14_uc003mgg.1_5'Flank|RGS14_uc003mgh.2_5'Flank|RGS14_uc003mgi.2_5'Flank NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 37 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) GGGCGAGGGCCGCGGCAGCTC 0.697 SQSTM1 8878 broad.mit.edu 37 5 179263532 179263532 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:179263532A>G uc003mkw.3 + 8 1357 c.1262A>G c.(1261-1263)AAC>AGC p.N421S SQSTM1_uc011dgr.1_Missense_Mutation_p.N337S|SQSTM1_uc011dgs.1_Missense_Mutation_p.N337S|SQSTM1_uc003mkv.3_Missense_Mutation_p.T338A|SQSTM1_uc003mkx.2_Missense_Mutation_p.N337S NM_003900 NP_003891 Q13501 SQSTM_HUMAN sequestosome 1 isoform 1 421 Interaction with NTRK1 (By similarity).|UBA. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGACCAAGAACTATGACATC 0.592 Paget_Disease_of_Bone GFPT2 9945 broad.mit.edu 37 5 179734305 179734305 + Splice_Site SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:179734305T>C uc003mlw.1 - 16 1645 c.1547_splice c.e16-1 p.E516_splice NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TGATCAGCTCTGGGCCATGCA 0.537 EXOC2 55770 broad.mit.edu 37 6 576834 576834 + Missense_Mutation SNP C C T rs145867129 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:576834C>T uc003mtd.2 - 12 1375 c.1241G>A c.(1240-1242)CGT>CAT p.R414H EXOC2_uc003mte.2_Missense_Mutation_p.R414H|EXOC2_uc011dho.1_Missense_Mutation_p.R9H NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 414 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CACTGAGGGACGTGTATCATT 0.502 C6orf146 222826 broad.mit.edu 37 6 4073578 4073578 + Splice_Site SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:4073578T>G uc003mvx.2 - 6 575 c.235_splice c.e6-1 p.N79_splice C6orf146_uc010jnq.1_Splice_Site|C6orf146_uc003mvy.2_Splice_Site_p.N16_splice NM_173563 NP_775834 Q8IXS0 CF146_HUMAN hypothetical protein LOC222826 ovary(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) TTTACTATTCTGATGACAGAA 0.303 PECI 10455 broad.mit.edu 37 6 4125528 4125528 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:4125528C>T uc003mwf.2 - 7 788 c.751G>A c.(751-753)GTC>ATC p.V251I C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_RNA|C6orf201_uc011dhw.1_3'UTR|C6orf201_uc003mwb.3_RNA|PECI_uc003mwc.2_Missense_Mutation_p.V84I|PECI_uc003mwd.2_Missense_Mutation_p.V221I|PECI_uc003mwe.2_Missense_Mutation_p.V98I|PECI_uc010jnr.1_Intron NM_206836 NP_996667 O75521 ECI2_HUMAN peroxisomal D3,D2-enoyl-CoA isomerase isoform 2 251 ECH-like. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) AGGAGGGTGACGGAGATGCCC 0.493 CD83 9308 broad.mit.edu 37 6 14131847 14131847 + Missense_Mutation SNP G G A rs147342996 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:14131847G>A uc003nbi.2 + 3 428 c.250G>A c.(250-252)GCC>ACC p.A84T CD83_uc003nbh.2_Missense_Mutation_p.A84T NM_004233 NP_004224 Q01151 CD83_HUMAN CD83 antigen isoform a 84 Extracellular (Potential).|Ig-like V-type. defense response|humoral immune response|signal transduction integral to plasma membrane 0 Breast(50;0.00245)|Ovarian(93;0.137) all_hematologic(90;0.117) TTCTTTCGACGCCCCCAATGA 0.542 NHLRC1 378884 broad.mit.edu 37 6 18122356 18122356 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:18122356G>A uc003ncl.1 - 1 496 c.482C>T c.(481-483)GCG>GTG p.A161V NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 161 NHL 2. proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) AAACTGATGCGCGCATCCTCC 0.602 HIST1H2BF 8343 broad.mit.edu 37 6 26200079 26200079 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:26200079C>T uc003ngx.2 + 1 293 c.293C>T c.(292-294)GCC>GTC p.A98V HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 98 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) ATCCAGACGGCCGTACGCCTG 0.597 HIST1H2AE 3012 broad.mit.edu 37 6 26217297 26217297 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:26217297A>G uc003nha.1 + 1 150 c.95A>G c.(94-96)CAC>CGC p.H32R HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN histone cluster 1, H2ae 32 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 all_hematologic(11;0.196) GGCCGTGTGCACCGCCTCCTC 0.597 DDR1 780 broad.mit.edu 37 6 30856514 30856514 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:30856514C>T uc003nrr.2 + 3 267 c.8C>T c.(7-9)CCA>CTA p.P3L DDR1_uc010jse.2_Missense_Mutation_p.P3L|DDR1_uc003nrq.2_Missense_Mutation_p.P3L|DDR1_uc003nrs.2_Missense_Mutation_p.P3L|DDR1_uc003nrt.2_Missense_Mutation_p.P3L|DDR1_uc011dms.1_Missense_Mutation_p.P21L|DDR1_uc011dmt.1_Missense_Mutation_p.P29L|DDR1_uc003nru.2_Missense_Mutation_p.P3L|DDR1_uc011dmu.1_Missense_Mutation_p.P3L|DDR1_uc003nrv.2_Missense_Mutation_p.P3L|DDR1_uc003nrw.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 3 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) GCTATGGGACCAGAGGCCCTG 0.542 VARS2 57176 broad.mit.edu 37 6 30887544 30887544 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:30887544G>A uc003nsc.1 + 11 1716 c.1084G>A c.(1084-1086)GGG>AGG p.G362R VARS2_uc011dmx.1_Missense_Mutation_p.G362R|VARS2_uc011dmy.1_Missense_Mutation_p.G222R|VARS2_uc011dmz.1_Missense_Mutation_p.G392R|VARS2_uc011dna.1_Missense_Mutation_p.G362R|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 362 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 GCATCTACACGGGCGACAGCT 0.587 C6orf27 80737 broad.mit.edu 37 6 31733790 31733790 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:31733790A>G uc011dog.1 - 16 2607 c.2369T>C c.(2368-2370)CTG>CCG p.L790P NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 790 extracellular region ovary(3) 3 TGGGACCTCCAGCCACAGGCG 0.622 C6orf48 50854 broad.mit.edu 37 6 31807422 31807422 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:31807422A>G uc003rjx.1 + 5 723 c.210A>G c.(208-210)GGA>GGG p.G70G C6orf48_uc003rjy.1_Silent_p.G70G|C6orf48_uc003rjz.1_RNA NM_001040437 NP_001035527 Q9UBA6 G8_HUMAN G8 protein 70 0 TTATTGGGGGAAAAATGCCTG 0.368 TNXB 7148 broad.mit.edu 37 6 32063535 32063535 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:32063535G>A uc003nzl.2 - 3 2297 c.2095C>T c.(2095-2097)CGG>TGG p.R699W NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 699 EGF-like 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TGGCCTGCCCGGCACAGTTCC 0.682 GPSM3 63940 broad.mit.edu 37 6 32159934 32159934 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:32159934G>A uc003oay.3 - 2 529 c.136C>T c.(136-138)CGC>TGC p.R46C PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Silent_p.P35P|GPSM3_uc003oaz.2_Missense_Mutation_p.R46C NM_022107 NP_071390 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 (AGS3-like, C. 46 signal transduction cytoplasm GTPase activator activity|protein binding 0 CCTGTGTGGCGGGTCCCTGGA 0.662 NOTCH4 4855 broad.mit.edu 37 6 32187491 32187491 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:32187491C>T uc003obb.2 - 8 1527 c.1388G>A c.(1387-1389)TGT>TAT p.C463Y NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.C463Y NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 463 EGF-like 11; calcium-binding (Potential).|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GCCAGGTGGACAGAGGCAGTT 0.607 ITPR3 3710 broad.mit.edu 37 6 33623607 33623607 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:33623607G>A uc011drk.1 + 3 444 c.225G>A c.(223-225)AAG>AAA p.K75K NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 75 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 GGAAGGCCAAGCAGACTAAGC 0.562 NUDT3 11165 broad.mit.edu 37 6 34309655 34309655 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:34309655C>T uc003ojl.2 - 2 496 c.194G>A c.(193-195)CGT>CAT p.R65H NM_006703 NP_006694 O95989 NUDT3_HUMAN nudix-type motif 3 65 Nudix box.|Nudix hydrolase. cell-cell signaling|diadenosine polyphosphate catabolic process|diphosphoinositol polyphosphate catabolic process cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|magnesium ion binding 0 ACAGACTTCACGAACTGCTGC 0.527 SLC26A8 116369 broad.mit.edu 37 6 35919042 35919042 + Silent SNP G G A rs143363265 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:35919042G>A uc003olm.2 - 19 2481 c.2370C>T c.(2368-2370)GAC>GAT p.D790D SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Silent_p.D372D|SLC26A8_uc003oln.2_Silent_p.D790D|SLC26A8_uc003oll.2_Silent_p.D685D NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 790 Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 ACAGCACGGCGTCGTGAACGC 0.488 PI16 221476 broad.mit.edu 37 6 36929281 36929281 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:36929281C>T uc003ona.2 + 3 776 c.448C>T c.(448-450)CTC>TTC p.L150F PI16_uc003omz.1_Missense_Mutation_p.L150F|PI16_uc003onb.2_Missense_Mutation_p.L150F|PI16_uc011dts.1_5'UTR NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 150 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 CTGTGAGAAGCTCCAGGGTGT 0.577 RNF8 9025 broad.mit.edu 37 6 37336726 37336726 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:37336726C>T uc003onq.3 + 3 900 c.707C>T c.(706-708)GCC>GTC p.A236V RNF8_uc003onr.3_Missense_Mutation_p.A236V|RNF8_uc011dtx.1_Missense_Mutation_p.A168V NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 236 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 GAGCAGAAAGCCTCAAACTCT 0.473 DNAH8 1769 broad.mit.edu 37 6 38875809 38875809 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:38875809T>C uc003ooe.1 + 62 9375 c.8775T>C c.(8773-8775)CCT>CCC p.P2925P uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGGAGCTACCTCGCCATCCTC 0.388 KIF6 221458 broad.mit.edu 37 6 39325124 39325124 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:39325124G>A uc003oot.2 - 19 2204 c.2109C>T c.(2107-2109)CTC>CTT p.L703L KIF6_uc003oos.2_Silent_p.L154L|KIF6_uc010jwz.1_Silent_p.L78L|KIF6_uc010jxa.1_Silent_p.L494L|KIF6_uc011dua.1_Silent_p.L686L|KIF6_uc010jxb.1_Silent_p.L647L NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 703 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 TCGTGTGATCGAGTGAATTCA 0.438 CNPY3 10695 broad.mit.edu 37 6 42905564 42905564 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:42905564A>C uc003ota.3 + 4 931 c.482A>C c.(481-483)GAC>GCC p.D161A CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.D161A|CNPY3_uc003otc.3_Missense_Mutation_p.D36A|CNPY3_uc003otb.3_Missense_Mutation_p.D72A NM_006586 NP_006577 Q9BT09 CNPY3_HUMAN trinucleotide repeat containing 5 precursor 161 Saposin B-type.|Potential. innate immune response endoplasmic reticulum ovary(1) 1 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) GAGGTGGCTGACCTCAAGAAG 0.567 MEP1A 4224 broad.mit.edu 37 6 46801266 46801266 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:46801266A>G uc010jzh.1 + 11 1642 c.1600A>G c.(1600-1602)ACA>GCA p.T534A MEP1A_uc011dwg.1_Missense_Mutation_p.T256A|MEP1A_uc011dwh.1_Missense_Mutation_p.T562A|MEP1A_uc011dwi.1_Missense_Mutation_p.T434A NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 534 MATH.|Extracellular (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) GAAGTCGCACACATCTCCAGG 0.507 KIAA1586 57691 broad.mit.edu 37 6 56917622 56917622 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:56917622G>A uc003pdj.2 + 4 495 c.325G>A c.(325-327)GAG>AAG p.E109K KIAA1586_uc011dxm.1_Missense_Mutation_p.E82K NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 109 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ACCACATTTCGAGTATATTGA 0.333 EYS 346007 broad.mit.edu 37 6 66204803 66204803 + Silent SNP C C G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:66204803C>G uc011dxu.1 - 4 1039 c.501G>C c.(499-501)GTG>GTC p.V167V EYS_uc003peq.2_Silent_p.V167V|EYS_uc003per.1_Silent_p.V167V|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 167 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 GTTTCACTGTCACATTTAGTC 0.433 SOBP 55084 broad.mit.edu 37 6 107827633 107827633 + Splice_Site SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:107827633T>C uc003prx.2 + 3 925 c.421_splice c.e3+2 p.E141_splice SOBP_uc003prw.1_Splice_Site_p.E141_splice NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CACCAGCAGGTAAGTCACTAC 0.393 SCML4 256380 broad.mit.edu 37 6 108067962 108067962 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:108067962C>T uc010kdf.2 - 4 669 c.418G>A c.(418-420)GAC>AAC p.D140N SCML4_uc003prz.3_Missense_Mutation_p.D82N|SCML4_uc011eam.1_Missense_Mutation_p.D140N|SCML4_uc003psa.3_Missense_Mutation_p.D111N NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) TGGGCGCAGTCGATGCAGGCT 0.642 SMPD2 6610 broad.mit.edu 37 6 109764279 109764279 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:109764279T>C uc003pti.2 + 8 1118 c.724T>C c.(724-726)TAC>CAC p.Y242H PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank NM_003080 NP_003071 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral 242 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity 0 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) CTACGTGCTTTACAAGGTCAG 0.498 LAMA4 3910 broad.mit.edu 37 6 112454679 112454679 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:112454679C>A uc003pvu.2 - 27 3877 c.3568G>T c.(3568-3570)GCA>TCA p.A1190S LAMA4_uc003pvv.2_Missense_Mutation_p.A1183S|LAMA4_uc003pvt.2_Missense_Mutation_p.A1183S NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1190 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GGAAGGTGTGCTCTGAGGGCC 0.448 C6orf204 387119 broad.mit.edu 37 6 118953649 118953649 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:118953649C>T uc003pxz.1 - 2 787 c.199G>A c.(199-201)GGC>AGC p.G67S C6orf204_uc003pya.1_Missense_Mutation_p.G70S|C6orf204_uc003pyb.2_Missense_Mutation_p.G67S|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Missense_Mutation_p.G70S|C6orf204_uc011ebl.1_5'UTR NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 67 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) GTTCCAATGCCAGTGTCTCCA 0.403 EYA4 2070 broad.mit.edu 37 6 133783519 133783519 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:133783519G>A uc003qec.3 + 8 942 c.484G>A c.(484-486)GCC>ACC p.A162T EYA4_uc011ecq.1_Missense_Mutation_p.A108T|EYA4_uc011ecr.1_Missense_Mutation_p.A108T|EYA4_uc003qed.3_Missense_Mutation_p.A162T|EYA4_uc003qee.3_Missense_Mutation_p.A139T|EYA4_uc011ecs.1_Missense_Mutation_p.A162T|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 162 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) AACAATGTCTGCCTATGCAGG 0.468 SLC2A12 154091 broad.mit.edu 37 6 134312334 134312334 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:134312334A>G uc003qem.1 - 5 1984 c.1813T>C c.(1813-1815)TGT>CGT p.C605R NM_145176 NP_660159 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose 605 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity ovary(1) 1 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) CCCCTACCACACAGCTTGTTA 0.463 LRP11 84918 broad.mit.edu 37 6 150141737 150141737 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:150141737C>T uc003qng.2 - 7 1775 c.1451G>A c.(1450-1452)CGT>CAT p.R484H NM_032832 NP_116221 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 484 Cytoplasmic (Potential). integral to membrane receptor activity 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) TGTAATGGGACGAGCTTTTTT 0.448 ARID1B 57492 broad.mit.edu 37 6 157488279 157488279 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:157488279G>A uc003qqn.2 + 9 2924 c.2772G>A c.(2770-2772)CCG>CCA p.P924P ARID1B_uc003qqo.2_Silent_p.P937P|ARID1B_uc003qqp.2_Silent_p.P924P|ARID1B_uc010kjl.2_Silent_p.P122P NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 982 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CGCAGGCGCCGCCCTACAGCA 0.612 ACAT2 39 broad.mit.edu 37 6 160198409 160198409 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:160198409C>T uc010kjy.2 + 7 964 c.833C>T c.(832-834)GCA>GTA p.A278V ACAT2_uc011efw.1_Missense_Mutation_p.A307V NM_005891 NP_005882 Q9BWD1 THIC_HUMAN acetyl-Coenzyme A acetyltransferase 2 278 mitochondrion|nucleolus acetyl-CoA C-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ACACCTTTAGCACGGATAGTT 0.433 THBS2 7058 broad.mit.edu 37 6 169648825 169648825 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:169648825G>A uc003qwt.2 - 4 544 c.296C>T c.(295-297)ACG>ATG p.T99M NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 99 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.T99M(1) ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AGCCAACAGCGTGCCCCTGGA 0.622 C6orf70 55780 broad.mit.edu 37 6 170159118 170159118 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:170159118G>A uc003qxg.1 + 6 595 c.562G>A c.(562-564)GTC>ATC p.V188I C6orf70_uc011ehb.1_Missense_Mutation_p.V62I|C6orf70_uc003qxh.1_Missense_Mutation_p.V188I|C6orf70_uc010kky.1_Missense_Mutation_p.V62I NM_018341 NP_060811 Q5T6L9 CF070_HUMAN hypothetical protein LOC55780 188 integral to membrane ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) CCTGCGTAACGTCTTATGGCA 0.378 MICALL2 79778 broad.mit.edu 37 7 1476465 1476465 + Missense_Mutation SNP C C T rs147056642 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:1476465C>T uc003skj.3 - 15 2651 c.2504G>A c.(2503-2505)CGG>CAG p.R835Q MICALL2_uc003skh.3_Missense_Mutation_p.R58Q|MICALL2_uc003ski.3_Missense_Mutation_p.R322Q NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 835 Potential. cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CTGCTCCCGCCGCCGCTCCTG 0.667 FOXK1 221937 broad.mit.edu 37 7 4794120 4794120 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:4794120C>T uc003snc.1 + 3 787 c.777C>T c.(775-777)CGC>CGT p.R259R FOXK1_uc003sna.1_Silent_p.R96R|FOXK1_uc003snb.1_Silent_p.R259R NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 259 cell differentiation|embryo development|muscle 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|magnesium ion 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 upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CCAGTCCACGCGGTGCCGGCT 0.627 TNRC18 84629 broad.mit.edu 37 7 5352185 5352185 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:5352185G>A uc003soi.3 - 27 8686 c.8337C>T c.(8335-8337)GCC>GCT p.A2779A NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2779 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCAGGAAGGCGGCGATCTTGG 0.706 EIF2AK1 27102 broad.mit.edu 37 7 6080770 6080770 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:6080770C>T uc003spp.2 - 9 1018 c.872G>A c.(871-873)CGC>CAC p.R291H EIF2AK1_uc003spq.2_Missense_Mutation_p.R290H|EIF2AK1_uc011jwm.1_Missense_Mutation_p.R167H|EIF2AK1_uc003spr.1_Missense_Mutation_p.R83H NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 291 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TTCTCCAAAGCGTTTTTCTTT 0.388 KDELR2 11014 broad.mit.edu 37 7 6505908 6505908 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:6505908G>A uc003sqe.3 - 4 559 c.398C>T c.(397-399)CCG>CTG p.P133L DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Intron NM_006854 NP_006845 P33947 ERD22_HUMAN KDEL receptor 2 isoform 1 133 Helical; (Potential). intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|Golgi apparatus|integral to membrane KDEL sequence binding|protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) AAATAGCTGCGGAAGGATAGC 0.542 HDAC9 9734 broad.mit.edu 37 7 18833017 18833017 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:18833017G>A uc003suh.2 + 16 2296 c.2255G>A c.(2254-2256)CGC>CAC p.R752H HDAC9_uc003sue.2_Missense_Mutation_p.R752H|HDAC9_uc011jyd.1_Missense_Mutation_p.R752H|HDAC9_uc003sui.2_Missense_Mutation_p.R755H|HDAC9_uc003suj.2_Missense_Mutation_p.R711H|HDAC9_uc003suk.2_5'UTR|HDAC9_uc003sua.1_Missense_Mutation_p.R730H NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 752 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|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 binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) GGTGCTGCACGCATGGCTGTT 0.488 BMPER 168667 broad.mit.edu 37 7 34118621 34118621 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:34118621C>T uc011kap.1 + 12 1345 c.1231C>T c.(1231-1233)CGG>TGG p.R411W NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 411 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CGACGCCCGCCGGACACGCTC 0.622 AEBP1 165 broad.mit.edu 37 7 44153382 44153382 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:44153382G>A uc003tkb.2 + 21 3304 c.2999G>A c.(2998-3000)CGG>CAG p.R1000Q AEBP1_uc003tkc.3_Missense_Mutation_p.R575Q|AEBP1_uc003tkd.2_Missense_Mutation_p.R250Q NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 1000 Required for transcriptional repression (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 AACGGGAACCGGCCTATCCCA 0.607 SUN3 256979 broad.mit.edu 37 7 48046807 48046807 + Missense_Mutation SNP G G C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:48046807G>C uc003tof.2 - 6 544 c.447C>G c.(445-447)AAC>AAG p.N149K SUN3_uc010kyq.2_Missense_Mutation_p.N49K|SUN3_uc003tog.2_Missense_Mutation_p.N149K|SUN3_uc011kcf.1_Missense_Mutation_p.N137K NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 149 integral to membrane central_nervous_system(1) 1 GGGTGTTCCAGTTGTGATTAT 0.493 ZPBP 11055 broad.mit.edu 37 7 50022936 50022936 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:50022936A>G uc003tou.2 - 7 1031 c.961_splice c.e7+1 p.V321_splice ZPBP_uc011kci.1_Splice_Site_p.V247_splice|ZPBP_uc010kyw.2_Splice_Site_p.V320_splice NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TTCATTACATACCACAGCACT 0.323 BAZ1B 9031 broad.mit.edu 37 7 72925183 72925183 + Splice_Site SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:72925183C>A uc003tyc.2 - 2 453 c.108_splice c.e2-1 p.E36_splice NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) TTCATACTCTCTGTTGGCAGT 0.433 CLIP2 7461 broad.mit.edu 37 7 73790244 73790244 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:73790244G>A uc003uam.2 + 10 1840 c.1513G>A c.(1513-1515)GTG>ATG p.V505M CLIP2_uc003uan.2_Missense_Mutation_p.V470M|CLIP2_uc003uao.2_Translation_Start_Site NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 505 Potential. microtubule associated complex skin(3) 3 GAAGTCGCGCGTGCTGCAGCT 0.657 PCLO 27445 broad.mit.edu 37 7 82785657 82785657 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:82785657C>T uc003uhx.2 - 2 589 c.300G>A c.(298-300)CCG>CCA p.P100P PCLO_uc003uhv.2_Silent_p.P100P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 100 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GCCCAGGGTCCGGGGGTCTTC 0.418 ABCB1 5243 broad.mit.edu 37 7 87144568 87144568 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:87144568G>A uc003uiz.1 - 26 3679 c.3261C>T c.(3259-3261)TAC>TAT p.Y1087Y ABCB1_uc011khc.1_Silent_p.Y1023Y NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 1087 Cytoplasmic (Potential).|ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCAAGGGGTCGTAGAACCGCT 0.517 PON1 5444 broad.mit.edu 37 7 94953783 94953783 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:94953783G>A uc003uns.2 - 1 102 c.5C>T c.(4-6)GCG>GTG p.A2V PON1_uc011kih.1_Intron NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 2 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) AATCAGCTTCGCCATGGTCGG 0.622 TRRAP 8295 broad.mit.edu 37 7 98490105 98490105 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:98490105G>A uc003upp.2 + 5 529 c.320G>A c.(319-321)CGT>CAT p.R107H TRRAP_uc011kis.1_Missense_Mutation_p.R107H NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 107 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) GAACATCTTCGTCCTCACACA 0.333 CUX1 1523 broad.mit.edu 37 7 101844792 101844792 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:101844792A>G uc003uyx.3 + 18 2253 c.2215A>G c.(2215-2217)ACC>GCC p.T739A CUX1_uc003uys.3_Missense_Mutation_p.T750A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 739 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GAGTGACATCACCATCCTCAC 0.642 PUS7 54517 broad.mit.edu 37 7 105108874 105108874 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:105108874A>G uc003vcx.2 - 12 1654 c.1435T>C c.(1435-1437)TAC>CAC p.Y479H PUS7_uc010lji.2_Missense_Mutation_p.Y485H|PUS7_uc003vcy.2_Missense_Mutation_p.Y479H|PUS7_uc003vcz.1_Missense_Mutation_p.Y479H NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 479 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 TAGCTTTGGTAGCTATGAATA 0.368 PIK3CG 5294 broad.mit.edu 37 7 106508461 106508461 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:106508461G>A uc003vdv.3 + 2 540 c.455G>A c.(454-456)CGG>CAG p.R152Q PIK3CG_uc003vdu.2_Missense_Mutation_p.R152Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.R152Q NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 152 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GCCTTCCAGCGGCAGCTCACG 0.672 PPP1R3A 5506 broad.mit.edu 37 7 113519997 113519997 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:113519997C>T uc010ljy.1 - 4 1181 c.1150G>A c.(1150-1152)GTA>ATA p.V384I NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 384 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TCTCCCTTTACGGAGCTTTCT 0.398 FAM3C 10447 broad.mit.edu 37 7 121003000 121003000 + Silent SNP T T A rs146438816 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:121003000T>A uc003vjx.2 - 7 581 c.333A>T c.(331-333)GGA>GGT p.G111G FAM3C_uc010lkm.2_Silent_p.G111G NM_014888 NP_055703 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 111 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity 0 all_neural(327;0.117) CTCCTGTTTTTCCTAAAAGAG 0.323 NRF1 4899 broad.mit.edu 37 7 129367082 129367082 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:129367082G>A uc003voz.2 + 10 1342 c.1225G>A c.(1225-1227)GAA>AAA p.E409K NRF1_uc003vpa.2_Missense_Mutation_p.E409K|NRF1_uc011kpa.1_Missense_Mutation_p.E248K|NRF1_uc003vpb.2_Missense_Mutation_p.E409K NM_005011 NP_005002 Q16656 NRF1_HUMAN nuclear respiratory factor 1 409 Required for transcriptional activation. generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 TGCCCGCAGCGAAGCTGCCGC 0.577 PLXNA4 91584 broad.mit.edu 37 7 131825445 131825445 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:131825445G>A uc003vra.3 - 30 5580 c.5351C>T c.(5350-5352)ACG>ATG p.T1784M PLXNA4_uc003vqz.3_Missense_Mutation_p.T69M NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1784 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GTGCTCTGACGTGGAGCAAGA 0.552 CALD1 800 broad.mit.edu 37 7 134632353 134632353 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:134632353C>T uc003vrz.2 + 8 2086 c.1627C>T c.(1627-1629)CGC>TGC p.R543C CALD1_uc003vry.2_Missense_Mutation_p.R288C|CALD1_uc003vsa.2_Missense_Mutation_p.R314C|CALD1_uc003vsb.2_Missense_Mutation_p.R288C|CALD1_uc010lmm.2_Missense_Mutation_p.R314C|CALD1_uc011kpt.1_Missense_Mutation_p.R62C|CALD1_uc003vsc.2_Missense_Mutation_p.R308C|CALD1_uc003vsd.2_Missense_Mutation_p.R282C|CALD1_uc011kpu.1_Missense_Mutation_p.R293C|CALD1_uc011kpv.1_Missense_Mutation_p.R152C|CALD1_uc003vse.2_Missense_Mutation_p.R407C NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 543 Poly-Arg. cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 TCGTCGTCGTCGCGGGGAGAC 0.468 CHRM2 1129 broad.mit.edu 37 7 136700133 136700133 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:136700133G>T uc003vtf.1 + 4 1144 c.521G>T c.(520-522)GGG>GTG p.G174V CHRM2_uc003vtg.1_Missense_Mutation_p.G174V|CHRM2_uc003vtj.1_Missense_Mutation_p.G174V|CHRM2_uc003vtk.1_Missense_Mutation_p.G174V|CHRM2_uc003vtl.1_Missense_Mutation_p.G174V|CHRM2_uc003vtm.1_Missense_Mutation_p.G174V|CHRM2_uc003vti.1_Missense_Mutation_p.G174V|CHRM2_uc003vto.1_Missense_Mutation_p.G174V|CHRM2_uc003vtn.1_Missense_Mutation_p.G174V|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 174 Extracellular (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GTGGAGGATGGGGAGTGCTAC 0.488 PARP12 64761 broad.mit.edu 37 7 139727098 139727098 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:139727098C>T uc003vvl.1 - 10 2480 c.1606G>A c.(1606-1608)GCC>ACC p.A536T PARP12_uc003vvk.1_Missense_Mutation_p.A322T|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 536 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) TCCCAGAGGGCCAGGTTCTGT 0.557 SLC37A3 84255 broad.mit.edu 37 7 140035244 140035244 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:140035244G>A uc003vvo.2 - 15 1619 c.1453C>T c.(1453-1455)CTA>TTA p.L485L SLC37A3_uc003vvn.2_Silent_p.L63L|SLC37A3_uc003vvp.2_Missense_Mutation_p.A384V|SLC37A3_uc010lnh.2_Silent_p.L469L NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN solute carrier family 37 (glycerol-3-phosphate 485 carbohydrate transport|transmembrane transport integral to membrane ovary(3) 3 Melanoma(164;0.0142) TGTCTCCTTAGCACGAGAGAG 0.453 WEE2 494551 broad.mit.edu 37 7 141416054 141416054 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:141416054G>T uc003vwn.2 + 3 978 c.572G>T c.(571-573)GGG>GTG p.G191V FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 191 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) GGCAAGGGAGGGCTGCCTGCC 0.269 TRYX3 136541 broad.mit.edu 37 7 141954898 141954898 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:141954898C>A uc003vxb.2 - 3 733 c.413G>T c.(412-414)TGG>TTG p.W138L TRYX3_uc003vxc.3_Missense_Mutation_p.W138L NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 138 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) ATTGTAGCTCCAGGTAGAGAC 0.423 PDIA4 9601 broad.mit.edu 37 7 148701189 148701189 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:148701189G>A uc003wff.2 - 10 1917 c.1635C>T c.(1633-1635)GAC>GAT p.D545D NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 545 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CGATGAGGACGTCCTTCTTGG 0.567 ABP1 26 broad.mit.edu 37 7 150553856 150553856 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:150553856G>A uc003why.1 + 3 4516 c.298G>A c.(298-300)GTC>ATC p.V100I ABP1_uc003whz.1_Missense_Mutation_p.V100I|ABP1_uc003wia.1_Missense_Mutation_p.V100I NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 100 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 ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) AGCCCGTGCCGTCATCTTCTT 0.582 ABCB8 11194 broad.mit.edu 37 7 150739135 150739135 + Missense_Mutation SNP C C T rs148191540 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:150739135C>T uc003wil.3 + 15 1849 c.1756C>T c.(1756-1758)CGG>TGG p.R586W ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Missense_Mutation_p.R569W|ABCB8_uc011kvd.1_Missense_Mutation_p.R481W|ABCB8_uc003wim.3_Missense_Mutation_p.R364W|ABCB8_uc003wik.3_Missense_Mutation_p.R569W NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 586 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACAGCCGCCCGGGAAGCGAA 0.612 MNX1 3110 broad.mit.edu 37 7 156798301 156798301 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:156798301G>A uc003wnd.1 - 3 1422 c.1119C>T c.(1117-1119)GGC>GGT p.G373G MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Silent_p.G166G|MNX1_uc003wnc.1_Silent_p.G161G|MNX1_uc010lqr.1_RNA NM_005515 NP_005506 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 isoform 1 373 humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGACGCTGGCGCCGTTGCTGT 0.731 Currarino_syndrome CSMD1 64478 broad.mit.edu 37 8 2975988 2975988 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:2975988G>A uc011kwk.1 - 42 6756 c.6366C>T c.(6364-6366)GGC>GGT p.G2122G CSMD1_uc011kwj.1_Silent_p.G1514G|CSMD1_uc010lrg.2_Silent_p.G190G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2122 Extracellular (Potential).|Sushi 12. 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) GGACAGGATGGCCTATTAGAA 0.458 TNKS 8658 broad.mit.edu 37 8 9609128 9609128 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:9609128A>G uc003wss.2 + 19 2847 c.2842A>G c.(2842-2844)ATC>GTC p.I948V TNKS_uc011kww.1_Missense_Mutation_p.I711V|TNKS_uc010lrt.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 948 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) GGCTGACGATATCAGAGCTTT 0.373 TNKS 8658 broad.mit.edu 37 8 9609186 9609186 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:9609186C>A uc003wss.2 + 19 2905 c.2900C>A c.(2899-2901)CCT>CAT p.P967H TNKS_uc011kww.1_Missense_Mutation_p.P730H|TNKS_uc010lrt.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 967 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) TGTTTTAAACCTCAGGCTACT 0.488 PPP3CC 5533 broad.mit.edu 37 8 22355520 22355520 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:22355520C>T uc003xbs.2 + 4 706 c.379C>T c.(379-381)CTG>TTG p.L127L PPP3CC_uc003xbr.1_Silent_p.L127L|PPP3CC_uc011kzi.1_Silent_p.L127L|PPP3CC_uc003xbt.2_Silent_p.L127L NM_005605 NP_005596 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma 127 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) GTAGTGTGTGCTGTATTTATG 0.229 SORBS3 10174 broad.mit.edu 37 8 22428492 22428492 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:22428492C>T uc003xbv.2 + 18 1841 c.1501C>T c.(1501-1503)CGC>TGC p.R501C SORBS3_uc003xbw.3_Missense_Mutation_p.R159C NM_005775 NP_005766 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 isoform 1 501 SH3 2.|Binds to vinculin. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding 0 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GGGCACGGGGCGCCAAGGCAT 0.652 ENTPD4 9583 broad.mit.edu 37 8 23291937 23291937 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:23291937C>T uc003xdl.2 - 12 1679 c.1515G>A c.(1513-1515)TCG>TCA p.S505S ENTPD4_uc011kzu.1_Silent_p.S497S|ENTPD4_uc003xdm.2_Silent_p.S497S|ENTPD4_uc011kzv.1_Silent_p.S505S NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 505 Lumenal (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) TGACAGGAAACGAAAAGCCCC 0.478 CHRNA6 8973 broad.mit.edu 37 8 42611903 42611903 + Missense_Mutation SNP T T A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:42611903T>A uc003xpj.2 - 5 485 c.439A>T c.(439-441)ACC>TCC p.T147S CHRNA6_uc011lcw.1_Missense_Mutation_p.T132S NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 147 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GGAGTCCAGGTTATCATGCCA 0.413 RGS20 8601 broad.mit.edu 37 8 54859256 54859256 + Missense_Mutation SNP C C G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:54859256C>G uc003xrp.2 + 4 783 c.691C>G c.(691-693)CCC>GCC p.P231A RGS20_uc003xrq.2_Missense_Mutation_p.P116A|RGS20_uc010lye.2_Missense_Mutation_p.P23A|RGS20_uc010lyf.2_Intron|RGS20_uc003xrs.2_Missense_Mutation_p.P84A|RGS20_uc003xrt.2_5'UTR NM_170587 NP_733466 O76081 RGS20_HUMAN regulator of G-protein signaling 20 isoform a 231 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) AGATCAGAGGCCCACAATAGC 0.393 TMEM68 137695 broad.mit.edu 37 8 56663707 56663707 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:56663707A>G uc003xsg.1 - 3 572 c.503T>C c.(502-504)TTA>TCA p.L168S TMEM68_uc003xsh.1_Missense_Mutation_p.L168S NM_152417 NP_689630 Q96MH6 TMM68_HUMAN transmembrane protein 68 168 integral to membrane acyltransferase activity skin(1) 1 Epithelial(17;0.000361)|all cancers(17;0.00326) ATCCAGTAATAAACTAAACCC 0.348 PENK 5179 broad.mit.edu 37 8 57358422 57358422 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:57358422C>T uc003xsz.2 - 1 172 c.91G>A c.(91-93)GCG>ACG p.A31T uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.A31T|PENK_uc010lym.2_Missense_Mutation_p.A31T NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 31 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CTGCACGTCGCGCAATCCTGG 0.652 KCNB2 9312 broad.mit.edu 37 8 73848244 73848244 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:73848244G>A uc003xzb.2 + 3 1242 c.654G>A c.(652-654)CTG>CTA p.L218L NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 218 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TGCCGGAGCTGCAGGAAACGG 0.478 E2F5 1875 broad.mit.edu 37 8 86121436 86121436 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:86121436T>C uc003ycz.3 + 6 712 c.675T>C c.(673-675)CAT>CAC p.H225H E2F5_uc003yda.3_Silent_p.H225H|E2F5_uc010mab.2_Silent_p.H64H|E2F5_uc003ydb.3_Silent_p.H44H NM_001951 NP_001942 Q15329 E2F5_HUMAN E2F transcription factor 5 isoform 1 225 G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 GACCTATCCATGTGCTGCTTA 0.408 TMEM64 169200 broad.mit.edu 37 8 91657390 91657390 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:91657390C>T uc003yen.2 - 1 744 c.744G>A c.(742-744)GCG>GCA p.A248A TMEM64_uc003yeo.2_Intron|TMEM64_uc011lgf.1_Silent_p.A248A|uc003yep.2_5'Flank NM_001008495 NP_001008495 Q6YI46 TMM64_HUMAN transmembrane protein 64 isoform 1 248 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(11;0.0598) GTCTGGCCAGCGCCACCACTT 0.602 OREG0018858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ABRA 137735 broad.mit.edu 37 8 107781751 107781751 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:107781751T>C uc003ymm.3 - 1 722 c.668A>G c.(667-669)CAG>CGG p.Q223R NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 223 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) ATTCACTTACTGGGAGGGCAA 0.577 CSMD3 114788 broad.mit.edu 37 8 113529286 113529286 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:113529286T>G uc003ynu.2 - 28 4892 c.4733A>C c.(4732-4734)CAG>CCG p.Q1578P CSMD3_uc003yns.2_Missense_Mutation_p.Q850P|CSMD3_uc003ynt.2_Missense_Mutation_p.Q1538P|CSMD3_uc011lhx.1_Missense_Mutation_p.Q1474P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1578 Extracellular (Potential).|Sushi 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGGGCTGGGCTGCCAGAAGTA 0.368 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) WDR67 93594 broad.mit.edu 37 8 124121761 124121761 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:124121761C>T uc003ypp.1 + 10 1427 c.1337C>T c.(1336-1338)GCG>GTG p.A446V WDR67_uc011lig.1_Missense_Mutation_p.A446V|WDR67_uc011lih.1_Missense_Mutation_p.A336V|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.A159V NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 446 Rab-GAP TBC. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AATCATACTGCGTTTAGTACC 0.378 DENND3 22898 broad.mit.edu 37 8 142202491 142202491 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:142202491T>C uc003yvy.2 + 21 3479 c.3201T>C c.(3199-3201)ATT>ATC p.I1067I DENND3_uc010mep.2_Silent_p.I1028I|DENND3_uc003ywa.1_Silent_p.I117I|DENND3_uc003ywb.2_Silent_p.I117I NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1067 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AATTGAAGATTGAGGAGAACT 0.552 SLC45A4 57210 broad.mit.edu 37 8 142225981 142225981 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:142225981G>A uc003ywd.1 - 6 1973 c.1665C>T c.(1663-1665)GCC>GCT p.A555A SLC45A4_uc003ywc.1_Silent_p.A555A|SLC45A4_uc010meq.1_Silent_p.A553A NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 606 Helical; (Potential). transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGGCCATCACGGCTGTGCCGA 0.592 ZFP41 286128 broad.mit.edu 37 8 144332292 144332292 + Silent SNP G G A rs144267705 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:144332292G>A uc003yxw.2 + 2 637 c.279G>A c.(277-279)GGG>GGA p.G93G ZFP41_uc003yxv.2_RNA NM_173832 NP_776193 Q8N8Y5 ZFP41_HUMAN zinc finger protein 41 homolog 93 C2H2-type 1. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GTGAGTGTGGGCGGATCTTTA 0.517 TOP1MT 116447 broad.mit.edu 37 8 144391652 144391652 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:144391652C>T uc003yxz.2 - 14 1784 c.1765G>A c.(1765-1767)GCC>ACC p.A589T TOP1MT_uc011lkd.1_Missense_Mutation_p.A491T|TOP1MT_uc011lke.1_Missense_Mutation_p.A491T|TOP1MT_uc010mfb.2_Missense_Mutation_p.A491T|TOP1MT_uc011lkf.1_3'UTR NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 589 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) AGAGCCCAGGCGAACCTCTCC 0.517 PYCRL 65263 broad.mit.edu 37 8 144688646 144688646 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:144688646G>A uc003yyy.2 - 4 586 c.576C>T c.(574-576)GGC>GGT p.G192G PYCRL_uc011lkm.1_Silent_p.G172G|PYCRL_uc011lkn.1_RNA NM_023078 NP_075566 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 180 proline biosynthetic process pyrroline-5-carboxylate reductase activity 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CGAAGGCCACGCCACTGCCAC 0.652 EPPK1 83481 broad.mit.edu 37 8 144940460 144940460 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:144940460A>C uc003zaa.1 - 2 14985 c.14972T>G c.(14971-14973)CTC>CGC p.L4991R NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 4991 Plectin 63. 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) GGCCTGGAAGAGGGAGATCTG 0.706 PLEC 5339 broad.mit.edu 37 8 145008551 145008551 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:145008551C>A uc003zaf.1 - 11 1685 c.1515G>T c.(1513-1515)AAG>AAT p.K505N PLEC_uc003zab.1_Missense_Mutation_p.K368N|PLEC_uc003zac.1_Missense_Mutation_p.K372N|PLEC_uc003zad.2_Missense_Mutation_p.K368N|PLEC_uc003zae.1_Missense_Mutation_p.K336N|PLEC_uc003zag.1_Missense_Mutation_p.K346N|PLEC_uc003zah.2_Missense_Mutation_p.K354N|PLEC_uc003zaj.2_Missense_Mutation_p.K395N NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 505 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGCCCCACTCCTTCTCCACAT 0.667 CPSF1 29894 broad.mit.edu 37 8 145625454 145625454 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:145625454A>G uc003zcj.2 - 10 1034 c.959T>C c.(958-960)ATC>ACC p.I320T CPSF1_uc003zck.1_Missense_Mutation_p.I270T|CPSF1_uc011lle.1_Missense_Mutation_p.I320T NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 320 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GTCCAGGGTGATCCGCACACC 0.577 DMRT2 10655 broad.mit.edu 37 9 1056568 1056568 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:1056568C>T uc003zha.2 + 4 1181 c.981C>T c.(979-981)AGC>AGT p.S327S DMRT2_uc003zgx.3_Silent_p.S94S|DMRT2_uc010mgz.2_Silent_p.S94S|DMRT2_uc003zgy.3_Silent_p.S171S|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.S327S NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 327 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CTAATGTCAGCGTGGCCACAA 0.463 SMARCA2 6595 broad.mit.edu 37 9 2039779 2039779 + Silent SNP G G A rs62639301 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:2039779G>A uc003zhc.2 + 4 768 c.669G>A c.(667-669)CAG>CAA p.Q223Q SMARCA2_uc003zhd.2_Silent_p.Q223Q|SMARCA2_uc010mha.2_Silent_p.Q214Q NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 223 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcaacagcagcagcagc 0.274 KCNV2 169522 broad.mit.edu 37 9 2718442 2718442 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:2718442G>A uc003zho.1 + 1 917 c.703G>A c.(703-705)GAC>AAC p.D235N NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 235 Extracellular (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(50;0.0257) ACTCTTCCGCGACATGCGCTT 0.687 RANBP6 26953 broad.mit.edu 37 9 6015587 6015587 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:6015587T>C uc003zjr.2 - 1 32 c.21A>G c.(19-21)GCA>GCG p.A7A RANBP6_uc011lmf.1_Silent_p.A7A|RANBP6_uc003zjs.2_5'UTR NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 7 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) CCGGCACCCCTGCAGACGCGG 0.602 PTPRD 5789 broad.mit.edu 37 9 8485953 8485953 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:8485953G>T uc003zkk.2 - 27 3575 c.2864C>A c.(2863-2865)ACC>AAC p.T955N PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T946N|PTPRD_uc003zkm.2_Missense_Mutation_p.T942N|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 955 Fibronectin type-III 7.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ATAAAGAAGGGTATACTTGGT 0.478 TSP Lung(15;0.13) FREM1 158326 broad.mit.edu 37 9 14859191 14859191 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:14859191G>A uc003zlm.2 - 4 1211 c.621C>T c.(619-621)TTC>TTT p.F207F FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 207 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) GGGACTCTGGGAAAAAACTGT 0.502 UNC13B 10497 broad.mit.edu 37 9 35380501 35380501 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:35380501C>T uc003zwq.2 + 17 2285 c.1993C>T c.(1993-1995)CGT>TGT p.R665C UNC13B_uc003zwr.2_Missense_Mutation_p.R665C NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 665 C2 2. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CATTAAGGTGCGTGTATGGGA 0.493 RUSC2 9853 broad.mit.edu 37 9 35558199 35558199 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:35558199G>T uc003zww.2 + 7 3321 c.3066G>T c.(3064-3066)AAG>AAT p.K1022N RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.K1022N NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1022 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TACAGGCAAAGCTGGGAAACA 0.607 TRPM3 80036 broad.mit.edu 37 9 73151247 73151247 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:73151247G>A uc004aid.2 - 25 4990 c.4746C>T c.(4744-4746)TGC>TGT p.C1582C TRPM3_uc004ahu.2_Silent_p.C1424C|TRPM3_uc004ahv.2_Silent_p.C1384C|TRPM3_uc004ahw.2_Silent_p.C1454C|TRPM3_uc004ahx.2_Silent_p.C1441C|TRPM3_uc004ahy.2_Silent_p.C1444C|TRPM3_uc004ahz.2_Silent_p.C1431C|TRPM3_uc004aia.2_Silent_p.C1429C|TRPM3_uc004aib.2_Silent_p.C1419C|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1607 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GCTCTGGATGGCAGCAAGTTA 0.542 FLJ46321 389763 broad.mit.edu 37 9 84606266 84606266 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:84606266G>A uc004amn.2 + 4 928 c.881G>A c.(880-882)CGT>CAT p.R294H NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 294 integral to membrane 0 TCTTGTGCTCGTCATCACGGA 0.463 KIF27 55582 broad.mit.edu 37 9 86504110 86504110 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:86504110C>T uc004ana.2 - 7 2012 c.1868G>A c.(1867-1869)CGA>CAA p.R623Q KIF27_uc010mpw.2_Missense_Mutation_p.R623Q|KIF27_uc010mpx.2_Missense_Mutation_p.R623Q NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 623 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 CATCTGACTTCGTGTTCGAAA 0.428 AGTPBP1 23287 broad.mit.edu 37 9 88204537 88204537 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:88204537A>G uc011ltd.1 - 19 2661 c.2628T>C c.(2626-2628)GAT>GAC p.D876D AGTPBP1_uc004aod.3_Silent_p.D502D|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.D836D|AGTPBP1_uc011lte.1_Silent_p.D888D NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 876 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 CACATAACACATCTTTCCGAA 0.338 ZCCHC6 79670 broad.mit.edu 37 9 88967763 88967763 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:88967763G>T uc004aoq.2 - 2 567 c.352C>A c.(352-354)CCT>ACT p.P118T ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.P118T|ZCCHC6_uc004aou.2_Missense_Mutation_p.P118T|ZCCHC6_uc004aov.2_Missense_Mutation_p.P118T|ZCCHC6_uc004aow.2_Missense_Mutation_p.P118T|ZCCHC6_uc010mqf.1_Missense_Mutation_p.P118T NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 118 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 CTAGGTCCAGGTTTGAATTCT 0.423 ROR2 4920 broad.mit.edu 37 9 94493360 94493360 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:94493360G>A uc004arj.1 - 7 1214 c.1015C>T c.(1015-1017)CCG>TCG p.P339S ROR2_uc004ari.1_Missense_Mutation_p.P199S|ROR2_uc004ark.2_Missense_Mutation_p.P339S NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 339 Extracellular (Potential).|Kringle. 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 AGGGCCCACGGCTGGCACTGG 0.612 KIAA1529 57653 broad.mit.edu 37 9 100124717 100124717 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:100124717C>T uc011lut.1 + 40 5218 c.4445C>T c.(4444-4446)GCA>GTA p.A1482V KIAA1529_uc004axe.1_Missense_Mutation_p.A1277V|KIAA1529_uc004axg.1_Missense_Mutation_p.A1343V|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.A462V NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) GCTACCTCTGCAGGCAGGTAG 0.582 NCBP1 4686 broad.mit.edu 37 9 100416081 100416081 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:100416081T>C uc004axq.2 + 11 1520 c.1061T>C c.(1060-1062)GTG>GCG p.V354A NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 354 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) CTTTTGTAGGTGATCTTTGCA 0.413 FOXE1 2304 broad.mit.edu 37 9 100617252 100617252 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:100617252C>T uc004axu.2 + 1 1716 c.1056C>T c.(1054-1056)GGC>GGT p.G352G NM_004473 NP_004464 O00358 FOXE1_HUMAN forkhead box E1 352 cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 Acute lymphoblastic leukemia(62;0.158) CCAGTGCAGGCGCCTACCATG 0.647 INVS 27130 broad.mit.edu 37 9 103035301 103035301 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:103035301G>A uc004bap.1 + 12 1939 c.1727G>A c.(1726-1728)CGA>CAA p.R576Q INVS_uc010mta.1_Missense_Mutation_p.R480Q|INVS_uc011lve.1_Missense_Mutation_p.R480Q|INVS_uc004bao.1_Missense_Mutation_p.R576Q|INVS_uc004baq.1_Missense_Mutation_p.R480Q|INVS_uc004bar.1_Missense_Mutation_p.R480Q|INVS_uc010mtb.1_Missense_Mutation_p.R250Q NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 576 IQ 1. negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) AAAGCCTTCCGAGACAGGAAA 0.488 ZNF462 58499 broad.mit.edu 37 9 109690581 109690581 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:109690581C>T uc004bcz.2 + 3 4677 c.4388C>T c.(4387-4389)CCC>CTC p.P1463L ZNF462_uc010mto.2_Missense_Mutation_p.P1311L|ZNF462_uc004bda.2_Missense_Mutation_p.P1311L NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1463 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TCAGCCAACCCCGCCATATCC 0.532 ZNF462 58499 broad.mit.edu 37 9 109773168 109773168 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:109773168A>G uc004bcz.2 + 13 7667 c.7378A>G c.(7378-7380)AGT>GGT p.S2460G ZNF462_uc010mto.2_Missense_Mutation_p.S2369G|ZNF462_uc004bda.2_Missense_Mutation_p.S2368G|ZNF462_uc011lvz.1_Missense_Mutation_p.S417G|uc004bdc.1_Intron NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2460 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 CATGGAGAACAGTGTTAAAAT 0.423 KIAA1958 158405 broad.mit.edu 37 9 115422066 115422066 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:115422066G>A uc004bgf.1 + 4 2043 c.1868G>A c.(1867-1869)CGG>CAG p.R623Q KIAA1958_uc011lwx.1_Missense_Mutation_p.R651Q NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 623 skin(1) 1 GAGCATTCCCGGGGACACAAA 0.592 COL27A1 85301 broad.mit.edu 37 9 117063971 117063971 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:117063971G>A uc011lxl.1 + 55 4819 c.4819G>A c.(4819-4821)GGC>AGC p.G1607S COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1607 Pro-rich.|Collagen-like 16.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GGGTCCTCCCGGCCCCAGAGG 0.632 COL27A1 85301 broad.mit.edu 37 9 117066886 117066886 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:117066886A>G uc011lxl.1 + 57 4873 c.4873_splice c.e57-2 p.Q1625_splice COL27A1_uc004bii.2_Splice_Site|COL27A1_uc011lxn.1_5'Flank NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 TTCCTTGCCCAGCAACAAGAT 0.597 TNC 3371 broad.mit.edu 37 9 117848730 117848730 + Missense_Mutation SNP T T G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:117848730T>G uc004bjj.3 - 3 1642 c.1280A>C c.(1279-1281)GAG>GCG p.E427A TNC_uc010mvf.2_Missense_Mutation_p.E427A NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 427 EGF-like 9. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 AGTATAGCCCTCATCACACAC 0.577 ASTN2 23245 broad.mit.edu 37 9 119382591 119382591 + Silent SNP C C T rs111633658 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:119382591C>T uc004bjs.1 - 18 3305 c.3204G>A c.(3202-3204)CCG>CCA p.P1068P ASTN2_uc004bjr.1_Silent_p.P1064P|ASTN2_uc004bjt.1_Silent_p.P1017P|ASTN2_uc004bjp.1_Silent_p.P161P|ASTN2_uc004bjq.1_Silent_p.P120P|ASTN2_uc011lxr.1_Silent_p.P120P|ASTN2_uc011lxs.1_Silent_p.P120P|ASTN2_uc011lxt.1_Silent_p.P120P|ASTN2_uc004bjv.1_Silent_p.P120P NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1068 Extracellular (Potential).|Fibronectin type-III. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 ATACGTACACCGGCTGCAGAA 0.582 OR1J4 26219 broad.mit.edu 37 9 125282057 125282057 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:125282057G>A uc011lyw.1 + 1 638 c.638G>A c.(637-639)TGC>TAC p.C213Y NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCACTAATATGCATCTTGATC 0.483 SH2D3C 10044 broad.mit.edu 37 9 130536608 130536608 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:130536608G>A uc004bsc.2 - 2 318 c.176C>T c.(175-177)ACG>ATG p.T59M SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.T3M NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 59 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 CTTGGGCACCGTCACCATGTC 0.577 FAM102A 399665 broad.mit.edu 37 9 130707096 130707096 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:130707096G>A uc004bsx.1 - 9 1078 c.999C>T c.(997-999)ATC>ATT p.I333I FAM102A_uc004bsw.1_Silent_p.I191I|FAM102A_uc004bsy.1_Silent_p.I61I NM_001035254 NP_001030331 Q5T9C2 F102A_HUMAN early estrogen-induced gene 1 protein isoform a 333 ovary(1) 1 GGCTCTGCACGATCTTCTCCA 0.672 CIZ1 25792 broad.mit.edu 37 9 130932369 130932369 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:130932369C>T uc004btt.2 - 12 2124 c.1961G>A c.(1960-1962)CGC>CAC p.R654H CIZ1_uc004btr.2_Missense_Mutation_p.R626H|CIZ1_uc004bts.2_Missense_Mutation_p.R625H|CIZ1_uc011maq.1_Missense_Mutation_p.R593H|CIZ1_uc004btu.2_Missense_Mutation_p.R574H|CIZ1_uc011mar.1_Missense_Mutation_p.R553H|CIZ1_uc011mas.1_Missense_Mutation_p.R684H|CIZ1_uc004btw.2_Missense_Mutation_p.R598H|CIZ1_uc004btv.2_Missense_Mutation_p.R654H NM_001131016 NP_001124488 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 isoform 654 nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 GTTGCACCAGCGCCTTGGTGG 0.532 GLE1 2733 broad.mit.edu 37 9 131287597 131287597 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:131287597G>A uc004bvj.2 + 7 1138 c.1024G>A c.(1024-1026)GAA>AAA p.E342K GLE1_uc004bvi.2_Missense_Mutation_p.E342K|GLE1_uc010myd.2_Missense_Mutation_p.E88K NM_001003722 NP_001003722 Q53GS7 GLE1_HUMAN GLE1 RNA export mediator homolog isoform 1 342 Potential. poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear pore protein binding 0 GCAGGATGAAGAAGAGGCCCA 0.607 SPTAN1 6709 broad.mit.edu 37 9 131353800 131353800 + Silent SNP G G A rs140279996 byFrequency TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:131353800G>A uc004bvl.3 + 22 3164 c.3051G>A c.(3049-3051)CCG>CCA p.P1017P SPTAN1_uc011mbg.1_Silent_p.P1017P|SPTAN1_uc011mbh.1_Silent_p.P1029P|SPTAN1_uc004bvm.3_Silent_p.P1017P|SPTAN1_uc004bvn.3_Silent_p.P1017P NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1017 SH3. P -> S (in a breast cancer sample; somatic mutation). 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 p.P1017S(1) breast(5)|ovary(4)|pancreas(1) 10 GTTTTGTGCCGGCTGCGTACG 0.527 CEL 1056 broad.mit.edu 37 9 135942250 135942250 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:135942250T>C uc010naa.1 + 6 720 c.704T>C c.(703-705)CTC>CCC p.L235P NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 232 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) AACAAGGGCCTCATCCGGCGA 0.632 RALGDS 5900 broad.mit.edu 37 9 135978616 135978616 + Splice_Site SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:135978616C>T uc004cco.2 - 12 1811 c.1791_splice c.e12+1 p.K597_splice RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_Splice_Site|RALGDS_uc004ccq.2_Splice_Site_p.K585_splice|RALGDS_uc004ccr.2_Splice_Site_p.K596_splice|RALGDS_uc011mcv.1_Splice_Site_p.K568_splice|RALGDS_uc004ccs.2_Splice_Site_p.K542_splice|RALGDS_uc011mcw.1_Splice_Site_p.K668_splice|RALGDS_uc004ccv.1_Splice_Site_p.K366_splice|RALGDS_uc004ccu.1_Splice_Site_p.K366_splice NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CAGCTGCTTACCTTCCTCCTC 0.537 T CIITA PMBL|Hodgkin Lymphona| OREG0019581 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OBP2B 29989 broad.mit.edu 37 9 136082718 136082718 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:136082718C>T uc004ccz.2 - 4 325 c.283G>A c.(283-285)GGC>AGC p.G95S OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.G27S NM_014581 NP_055396 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B precursor 95 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) AGCTTCCTGCCCCCATCTGTA 0.552 CAMSAP1 157922 broad.mit.edu 37 9 138713203 138713203 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:138713203C>T uc004cgr.3 - 11 3304 c.3304G>A c.(3304-3306)GGA>AGA p.G1102R CAMSAP1_uc004cgq.3_Missense_Mutation_p.G992R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.G824R NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1102 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GCCGGCCTTCCGGAACGGGAA 0.647 NOTCH1 4851 broad.mit.edu 37 9 139409965 139409965 + Missense_Mutation SNP A A C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:139409965A>C uc004chz.2 - 11 1873 c.1873T>G c.(1873-1875)TAC>GAC p.Y625D NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 625 Extracellular (Potential).|EGF-like 16; calcium-binding (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) AAGCAGAGGTAGGCGTTGTCG 0.721 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) CLIC3 9022 broad.mit.edu 37 9 139889995 139889995 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:139889995G>A uc004ckj.1 - 3 197 c.168C>T c.(166-168)TTC>TTT p.F56F NM_004669 NP_004660 O95833 CLIC3_HUMAN chloride intracellular channel 3 56 GST N-terminal.|Required for insertion into the membrane (By similarity). signal transduction chloride channel complex|cytoplasm|nucleus protein binding|voltage-gated chloride channel activity 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AGCCGGGGGCGAAGTCCTTCA 0.706 FAM166A 401565 broad.mit.edu 37 9 140140301 140140301 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:140140301C>T uc004cmi.1 - 2 116 c.61G>A c.(61-63)GCC>ACC p.A21T NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 21 ovary(1) 1 AAGAAGCCGGCATAGCTGTGG 0.552 MXRA5 25878 broad.mit.edu 37 X 3235466 3235466 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:3235466C>T uc004crg.3 - 6 6413 c.6256G>A c.(6256-6258)GGT>AGT p.G2086S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2086 Ig-like C2-type 5. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATCTGGGTACCGTCCCCGAGC 0.652 TBL1X 6907 broad.mit.edu 37 X 9677345 9677345 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:9677345G>A uc010ndq.2 + 14 1662 c.1294G>A c.(1294-1296)GAT>AAT p.D432N TBL1X_uc004csq.3_Missense_Mutation_p.D381N|TBL1X_uc010ndr.2_Missense_Mutation_p.D381N|TBL1X_uc004csr.2_Missense_Mutation_p.D432N|TBL1X_uc004css.2_Missense_Mutation_p.D383N NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 432 WD 5. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) ATCCTGCTCGGATGACATGAC 0.517 OREG0019658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CLCN4 1183 broad.mit.edu 37 X 10180666 10180666 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:10180666G>A uc004csy.3 + 10 1979 c.1549G>A c.(1549-1551)GCA>ACA p.A517T CLCN4_uc011mid.1_Missense_Mutation_p.A423T NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 517 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 AGGGCTGTACGCAATGGTGGG 0.612 MID1 4281 broad.mit.edu 37 X 10427780 10427780 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:10427780G>A uc004cte.3 - 8 1544 c.1353C>T c.(1351-1353)CAC>CAT p.H451H MID1_uc004ctd.3_Silent_p.H162H|MID1_uc004ctg.3_Silent_p.H451H|MID1_uc004cth.3_Silent_p.H413H|MID1_uc004ctk.3_Silent_p.H451H|MID1_uc004cti.3_Silent_p.H451H|MID1_uc004ctj.3_Silent_p.H451H|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Silent_p.H123H|MID1_uc004cta.3_Silent_p.H207H|MID1_uc004ctb.3_Silent_p.H111H|MID1_uc004ctc.3_Silent_p.H218H NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 451 Fibronectin type-III. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 TCTGCAGACCGTGCACCGTGT 0.517 FRMPD4 9758 broad.mit.edu 37 X 12734822 12734822 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:12734822G>A uc004cuz.1 + 15 2750 c.2244G>A c.(2242-2244)GCG>GCA p.A748A FRMPD4_uc011mij.1_Silent_p.A740A NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 748 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 CTGATGACGCGGAGGACGAGG 0.562 OFD1 8481 broad.mit.edu 37 X 13778670 13778670 + Silent SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:13778670T>C uc004cvp.3 + 16 2450 c.2091T>C c.(2089-2091)GTT>GTC p.V697V OFD1_uc004cvr.3_Silent_p.V264V|OFD1_uc011mil.1_Silent_p.V264V|OFD1_uc004cvq.3_Silent_p.V557V|OFD1_uc010nen.2_Silent_p.V696V|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Silent_p.V656V|OFD1_uc004cvv.3_Silent_p.V656V NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 697 Mediates the interaction with SDCCAG8. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 AGGACAGAGTTGTCTCTGAGC 0.532 ASB9 140462 broad.mit.edu 37 X 15287958 15287958 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:15287958G>A uc004cwl.2 - 1 286 c.39C>T c.(37-39)CCC>CCT p.P13P ASB9_uc004cwk.2_Silent_p.P13P|ASB9_uc004cwm.2_Silent_p.P13P|ASB9_uc010ner.2_Silent_p.P13P|ASB9_uc004cwn.2_Silent_p.P13P NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 13 intracellular signal transduction 0 Hepatocellular(33;0.183) TTGGCCCCGCGGGCTTGCTCC 0.567 POLA1 5422 broad.mit.edu 37 X 24734570 24734570 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:24734570C>T uc004dbl.2 + 7 622 c.599C>T c.(598-600)ACG>ATG p.T200M POLA1_uc004dbm.2_Missense_Mutation_p.T206M|POLA1_uc004dbn.2_Missense_Mutation_p.T64M NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 200 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) CACACCGCCACGGTAAAGTGT 0.368 DDX3X 1654 broad.mit.edu 37 X 41205860 41205860 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:41205860C>T uc004dfe.2 + 14 2455 c.1600C>T c.(1600-1602)CGT>TGT p.R534C DDX3X_uc004dff.2_Missense_Mutation_p.R534C|DDX3X_uc011mkq.1_Missense_Mutation_p.R518C|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 534 Helicase C-terminal. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TCGTACGGGACGTGTAGGAAA 0.363 HNSCC(61;0.18) CDK16 5127 broad.mit.edu 37 X 47085981 47085981 + Splice_Site SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:47085981G>T uc004dho.2 + 10 1313 c.917_splice c.e10-1 p.G306_splice CDK16_uc011mli.1_Splice_Site_p.G312_splice|CDK16_uc011mlj.1_3'UTR|CDK16_uc011mlk.1_Splice_Site_p.G306_splice|CDK16_uc011mll.1_Splice_Site_p.G380_splice NM_006201 NP_006192 Q00536 CDK16_HUMAN PCTAIRE protein kinase 1 isoform 1 ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1) 1 CTGATTTCCAGGCCTGGCCCG 0.547 USP11 8237 broad.mit.edu 37 X 47100030 47100030 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:47100030C>T uc004dhp.2 + 6 855 c.855C>T c.(853-855)AGC>AGT p.S285S USP11_uc004dhq.2_Silent_p.S12S NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 285 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 CTTGGCCCAGCGCACAGCTGC 0.527 WDR13 64743 broad.mit.edu 37 X 48457775 48457775 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:48457775G>A uc004dkh.1 + 4 464 c.317G>A c.(316-318)CGT>CAT p.R106H WDR13_uc010nif.1_Translation_Start_Site|WDR13_uc004dki.1_Missense_Mutation_p.R14H|WDR13_uc004dkj.1_Missense_Mutation_p.R106H|WDR13_uc004dkk.1_Missense_Mutation_p.R14H|WDR13_uc004dkl.3_Missense_Mutation_p.R14H|WDR13_uc011mme.1_Translation_Start_Site NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 106 cytoplasm|nucleus ovary(2) 2 CTGGGGGCCCGTGGGCACCGT 0.607 HDAC6 10013 broad.mit.edu 37 X 48674585 48674585 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:48674585A>G uc011mmi.1 + 18 1626 c.1531A>G c.(1531-1533)ATG>GTG p.M511V HDAC6_uc004dks.1_Missense_Mutation_p.M511V|HDAC6_uc010nig.1_Missense_Mutation_p.M359V|HDAC6_uc004dkt.1_Missense_Mutation_p.M511V|HDAC6_uc011mmk.1_Missense_Mutation_p.M492V|HDAC6_uc004dkv.1_Missense_Mutation_p.M159V|HDAC6_uc004dkw.1_Missense_Mutation_p.M159V NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 511 Histone deacetylase 2. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) CTTGCGGATCATGTGCCGTCT 0.652 KCND1 3750 broad.mit.edu 37 X 48826158 48826158 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:48826158C>T uc004dlx.1 - 1 2094 c.521G>A c.(520-522)CGG>CAG p.R174Q KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 174 Cytoplasmic (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 CTCGAAGGCCCGCCAGAGCCG 0.652 DGKK 139189 broad.mit.edu 37 X 50129458 50129458 + Missense_Mutation SNP T T C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:50129458T>C uc010njr.1 - 15 2305 c.2245A>G c.(2245-2247)ATT>GTT p.I749V NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 749 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) ATTTGAGGAATGAAGGGCTTC 0.468 HUWE1 10075 broad.mit.edu 37 X 53562434 53562434 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:53562434C>T uc004dsp.2 - 81 12962 c.12560G>A c.(12559-12561)CGT>CAT p.R4187H HUWE1_uc004dsn.2_Missense_Mutation_p.R2995H NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 4187 HECT. R -> C (in MRXS-Turner). base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TTTGAGGTCACGAACTTCACA 0.433 PHF8 23133 broad.mit.edu 37 X 54028591 54028591 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:54028591G>A uc004dsu.2 - 10 1319 c.1246C>T c.(1246-1248)CGC>TGC p.R416C PHF8_uc004dst.2_Missense_Mutation_p.R380C|PHF8_uc004dsv.2_Missense_Mutation_p.R246C|PHF8_uc004dsw.2_Missense_Mutation_p.R380C|PHF8_uc004dsx.2_Missense_Mutation_p.R144C|PHF8_uc004dsy.2_Missense_Mutation_p.R380C NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 416 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|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(3) 3 TCCATACCGCGAAAGATGTCC 0.478 STARD8 9754 broad.mit.edu 37 X 67940852 67940852 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:67940852C>T uc004dxa.2 + 8 2268 c.1896C>T c.(1894-1896)TAC>TAT p.Y632Y STARD8_uc004dxb.2_Silent_p.Y712Y|STARD8_uc004dxc.3_Silent_p.Y632Y NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 632 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 ATGTCTGCTACGAGGGCCAGT 0.562 PJA1 64219 broad.mit.edu 37 X 68382735 68382735 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:68382735C>A uc004dxh.2 - 2 633 c.347G>T c.(346-348)GGA>GTA p.G116V PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.G61V NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 116 zinc ion binding 0 GTCAATATGTCCATAGGCCAT 0.498 FOXO4 4303 broad.mit.edu 37 X 70321310 70321310 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:70321310G>A uc004dys.1 + 2 1583 c.1230G>A c.(1228-1230)ACG>ACA p.T410T FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Silent_p.T355T NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 410 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) AGCTGGCCACGGGCGTCGGCC 0.622 UPRT 139596 broad.mit.edu 37 X 74520740 74520740 + Missense_Mutation SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:74520740A>G uc004ecb.1 + 6 892 c.763A>G c.(763-765)ATA>GTA p.I255V UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.I255V|UPRT_uc004ece.1_Missense_Mutation_p.I119V NM_145052 NP_659489 Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog 255 nucleoside metabolic process cytoplasm|nucleus 0 AAAGGTTCTTATAGAACATGG 0.373 XKRX 402415 broad.mit.edu 37 X 100183206 100183206 + Nonsense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:100183206G>A uc004egn.2 - 1 693 c.88C>T c.(88-90)CGA>TGA p.R30* XKRX_uc011mre.1_5'UTR NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 30 integral to membrane|plasma membrane breast(1) 1 AAAGTAAATCGGGGGTTGGCT 0.443 ARMCX5 64860 broad.mit.edu 37 X 101858244 101858244 + Missense_Mutation SNP A A T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:101858244A>T uc004ejg.2 + 6 2056 c.1175A>T c.(1174-1176)TAT>TTT p.Y392F ARMCX5_uc004ejh.2_Missense_Mutation_p.Y392F NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 392 binding ovary(1) 1 GGGGAGTCATATATACATCAA 0.418 BEX1 55859 broad.mit.edu 37 X 102317840 102317840 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:102317840A>G uc004ejt.1 - 3 603 c.363T>C c.(361-363)TTT>TTC p.F121F NM_018476 NP_060946 Q9HBH7 BEX1_HUMAN brain expressed, X-linked 1 121 cell differentiation|nervous system development cytoplasm|nucleus ovary(1) 1 GCATAAGGCAAAACTCATCAT 0.473 NXF3 56000 broad.mit.edu 37 X 102334165 102334165 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:102334165G>A uc004eju.2 - 16 1433 c.1362C>T c.(1360-1362)AAC>AAT p.N454N NXF3_uc010noi.1_Silent_p.N304N NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 454 NTF2. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 TGAACACCCCGTTGACAGAAA 0.582 TBC1D8B 54885 broad.mit.edu 37 X 106109220 106109220 + Silent SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:106109220C>T uc004emo.2 + 16 2784 c.2619C>T c.(2617-2619)AAC>AAT p.N873N MORC4_uc004emp.3_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 873 EF-hand. intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 TAGATGAAAACTCTGATTGCC 0.373 ALG13 79868 broad.mit.edu 37 X 110951472 110951472 + Missense_Mutation SNP C C A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:110951472C>A uc011msy.1 + 4 635 c.601C>A c.(601-603)CTG>ATG p.L201M ALG13_uc011msw.1_Missense_Mutation_p.L123M|ALG13_uc011msx.1_Missense_Mutation_p.L97M|ALG13_uc011msz.1_Missense_Mutation_p.L123M|ALG13_uc011mta.1_Missense_Mutation_p.L97M|ALG13_uc011mtb.1_Missense_Mutation_p.L97M Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 201 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 TACCCCCACCCTGTACAAAAT 0.458 LONRF3 79836 broad.mit.edu 37 X 118109314 118109314 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:118109314C>T uc004eqw.2 + 1 602 c.571C>T c.(571-573)CGC>TGC p.R191C LONRF3_uc004eqx.2_Missense_Mutation_p.R191C|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 191 RING-type 1. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 CGCCGACCGGCGCTGTGCGCT 0.692 FMR1 2332 broad.mit.edu 37 X 147030286 147030286 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:147030286G>A uc010nst.2 + 17 2010 c.1821G>A c.(1819-1821)ACG>ACA p.T607T FMR1_uc004fcj.2_Silent_p.T567T|FMR1_uc004fck.3_Silent_p.T561T|FMR1_uc004fcl.3_Silent_p.T447T|FMR1_uc011mxa.1_Silent_p.T237T NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 607 Interaction with RANBP9. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGCGCACGGGTAAAGATC 0.428 Fragile_X_syndrome MAGEA4 4103 broad.mit.edu 37 X 151092867 151092867 + Missense_Mutation SNP G G T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:151092867G>T uc004fez.2 + 3 887 c.731G>T c.(730-732)AGG>ATG p.R244M MAGEA4_uc004ffa.2_Missense_Mutation_p.R244M|MAGEA4_uc004ffb.2_Missense_Mutation_p.R244M|MAGEA4_uc004ffc.2_Missense_Mutation_p.R244M|MAGEA4_uc004ffd.2_Missense_Mutation_p.R244M NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 244 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGGGAGCCCAGGAAACTGCTC 0.592 MAGEA3 4102 broad.mit.edu 37 X 151935285 151935285 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:151935285A>G uc004fgp.2 - 3 1091 c.882T>C c.(880-882)AGT>AGC p.S294S NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 294 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GAGGTCCTCCACTGATCTTTA 0.552 PLXNB3 5365 broad.mit.edu 37 X 153040418 153040418 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:153040418C>T uc004fii.2 + 24 4189 c.4015C>T c.(4015-4017)CGC>TGC p.R1339C PLXNB3_uc010nuk.2_Missense_Mutation_p.R1362C|PLXNB3_uc011mzd.1_Missense_Mutation_p.R978C|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1339 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CTACGCCGAGCGCGCCTTCTT 0.701 L1CAM 3897 broad.mit.edu 37 X 153128280 153128280 + Silent SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:153128280A>G uc004fjb.2 - 28 3720 c.3612T>C c.(3610-3612)AGT>AGC p.S1204S L1CAM_uc004fjc.2_Silent_p.S1200S|L1CAM_uc010nuo.2_Silent_p.S1195S NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 1204 Cytoplasmic (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCTGTCGTCACTGCCCAGGG 0.597 L1CAM 3897 broad.mit.edu 37 X 153135593 153135593 + Silent SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:153135593G>A uc004fjb.2 - 8 1017 c.909C>T c.(907-909)GGC>GGT p.G303G L1CAM_uc004fjc.2_Silent_p.G303G|L1CAM_uc010nuo.2_Silent_p.G298G|L1CAM_uc004fjd.1_Silent_p.G117G|L1CAM_uc004fje.1_Silent_p.G298G NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 303 Extracellular (Potential).|Ig-like C2-type 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATCCTCCTCGCCCACTTTCA 0.632 AVPR2 554 broad.mit.edu 37 X 153171222 153171222 + Missense_Mutation SNP G G A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:153171222G>A uc004fjh.3 + 2 333 c.262G>A c.(262-264)GTG>ATG p.V88M AVPR2_uc004fjg.3_Intron|AVPR2_uc004fji.2_Missense_Mutation_p.V88M NM_000054 NP_000045 P30518 V2R_HUMAN arginine vasopressin receptor 2 isoform 1 88 Helical; Name=2; (Potential). V -> M (in XNDI). activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) CGACCTGGCCGTGGCTCTGTT 0.677 ARHGAP4 393 broad.mit.edu 37 X 153175255 153175255 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:153175255C>T uc004fjk.1 - 19 2396 c.2354G>A c.(2353-2355)CGG>CAG p.R785Q ARHGAP4_uc004fjj.1_Missense_Mutation_p.R136Q|ARHGAP4_uc011mzf.1_Missense_Mutation_p.R762Q|ARHGAP4_uc004fjl.1_Missense_Mutation_p.R825Q|ARHGAP4_uc010nup.1_RNA NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 785 SH3. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGCTCCCCCCGCCACCAGTC 0.711 HCFC1 3054 broad.mit.edu 37 X 153227068 153227068 + Missense_Mutation SNP C C T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:153227068C>T uc004fjp.2 - 6 1357 c.829G>A c.(829-831)GTC>ATC p.V277I NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 277 Kelch 5. 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) TCATCCATGACGAGAGGCACC 0.562 IRAK1 3654 broad.mit.edu 37 X 153282398 153282398 + Splice_Site SNP A A G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:153282398A>G uc004fjs.1 - 8 1107 c.1028_splice c.e8+1 p.S343_splice IRAK1_uc004fjr.1_Splice_Site_p.S343_splice|IRAK1_uc004fjt.1_Splice_Site_p.S343_splice|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Splice_Site_p.S369_splice NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCCCTCCTCACCTCTTGATG 0.622 PLXNA3 55558 broad.mit.edu 37 X 153691782 153691782 + Missense_Mutation SNP G G A rs143738443 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:153691782G>A uc004flm.2 + 5 1539 c.1366G>A c.(1366-1368)GTG>ATG p.V456M NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 456 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GACAGTCCCCGTGGTGGATGG 0.637 RBL2 5934 broad.mit.edu 37 16 53513902 53513905 + Splice_Site DEL AAGT AAGT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:53513902_53513905delAAGT uc002ehi.3 + 19 2999 c.2881_splice c.e19+1 p.T961_splice RBL2_uc002ehj.2_Splice_Site_p.T671_splice|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 ACAAAGATAGAAGTAAGTGGGATC 0.328 GABRD 2563 broad.mit.edu 37 1 1956774 1956775 + Splice_Site INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:1956773_1956774G>GC uc001aip.2 + 3 277 c.182_splice c.e3-1 p.G61_splice NM_000815 NP_000806 O14764 GBRD_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA. 61 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.V64fs*365(1) central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TTCCTTGCAGGCCCCCCCGTGA 0.644 MECOM 2122 broad.mit.edu 37 3 168818750 168818751 + Splice_Site DEL TC TC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:168818749_168818750ATC>A uc011bpj.1 - 12 3175 c.2772_splice c.e12-1 p.R924_splice MECOM_uc010hwk.1_Splice_Site_p.R750_splice|MECOM_uc003ffj.3_Splice_Site_p.R801_splice|MECOM_uc003ffi.3_Splice_Site_p.R736_splice|MECOM_uc011bpi.1_Splice_Site_p.R728_splice|MECOM_uc003ffn.3_Splice_Site_p.R736_splice|MECOM_uc003ffk.2_Splice_Site_p.R727_splice|MECOM_uc003ffl.2_Splice_Site_p.R887_splice|MECOM_uc011bpk.1_Splice_Site_p.R736_splice NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTGCCACAGTATCTGTTATGAA 0.401 KIN 22944 broad.mit.edu 37 10 7817765 7817765 + Splice_Site DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:7817764_7817764TA>T uc001ijt.3 - 6 653 c.559_splice c.e6-1 p.E187_splice KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice NM_012311 NP_036443 O60870 KIN17_HUMAN Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA. 187 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix RNA binding|double-stranded DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 AGGGACCTCCTAAAAAAAAGA 0.318 USP54 159195 broad.mit.edu 37 10 75290284 75290284 + Splice_Site DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:75290283_75290283TA>T uc001juo.3 - 12 1465 c.1448_splice c.e12-1 p.G483_splice USP54_uc001juk.3_Splice_Site|USP54_uc001jul.3_Splice_Site|USP54_uc001jum.3_Splice_Site|USP54_uc001jun.3_Splice_Site|USP54_uc001jup.3_Splice_Site_p.G483_splice|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Splice_Site_p.G483_splice NM_152586 NP_689799 Q70EL1 UBP54_HUMAN Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA. 483 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GTGTTTCTCCTAAAAACACAA 0.398 LMAN1 3998 broad.mit.edu 37 18 57013285 57013286 + Splice_Site INS - - T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:57013284_57013285C>CT uc002lhz.3 - 8 855 c.823_splice c.e8-1 p.P275_splice NM_005570 NP_005561 P49257 LMAN1_HUMAN Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA. 275 ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) CTGGTGTGGGCTTTTTTTTGGA 0.297 COL4A6 1288 broad.mit.edu 37 X 107462975 107462975 + Splice_Site DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:107462974_107462974TA>T uc004enw.4 - 5 386 c.283_splice c.e5-1 p.G95_splice COL4A6_uc004env.4_Splice_Site_p.G94_splice|COL4A6_uc011msn.2_Splice_Site_p.G94_splice|COL4A6_uc010npk.3_Splice_Site_p.G94_splice NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 95 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CATGGGACCCTAAAAAAAGGA 0.423 Alport syndrome with Diffuse Leiomyomatosis PIK3R3 8503 broad.mit.edu 37 1 46511600 46511600 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:46511600delA uc001cpb.3 - 9 1933 c.1177delT c.(1177-1179)TGCfs p.C393fs PIK3R3_uc009vyb.2_Frame_Shift_Del_p.C334fs|PIK3R3_uc009vyc.2_Frame_Shift_Del_p.C410fs|PIK3R3_uc001cpc.3_Frame_Shift_Del_p.C393fs|PIK3R3_uc010olw.1_Frame_Shift_Del_p.C439fs|PIK3R3_uc010olv.1_Frame_Shift_Del_p.C183fs NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 393 SH2 2. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) ACCACAGAGCAAGCATAGCAT 0.368 IGSF9 57549 broad.mit.edu 37 1 159898247 159898247 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:159898247delG uc001fur.2 - 19 3129 c.2931delC c.(2929-2931)CCCfs p.P977fs IGSF9_uc001fuq.2_Frame_Shift_Del_p.P961fs|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Frame_Shift_Del_p.P123fs NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 977 Pro-rich.|Cytoplasmic (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGATTCCCTGGGGGATACAG 0.627 PIGM 93183 broad.mit.edu 37 1 160000584 160000584 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:160000584delA uc001fuv.1 - 1 1200 c.946delT c.(946-948)TGTfs p.C316fs NM_145167 NP_660150 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, 316 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) AGAAAACAACAAAAAACGAGG 0.443 ANGPTL1 9068 broad.mit.edu 37 1 178834299 178834299 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:178834299delA uc001gma.2 - 3 1089 c.613delT c.(613-615)TCCfs p.S205fs RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Frame_Shift_Del_p.S205fs|ANGPTL1_uc010pnc.1_Frame_Shift_Del_p.S127fs NM_004673 NP_004664 O95841 ANGL1_HUMAN angiopoietin-like 1 precursor 205 extracellular space receptor binding 0 TCTTGTCGGGAAAATATCCTC 0.463 CCDC3 83643 broad.mit.edu 37 10 13043355 13043356 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:13043355_13043356insC uc001ilq.1 - 1 349_350 c.215_216insG c.(214-216)GGCfs p.G72fs CCDC3_uc009xjb.1_Intron|CCDC3_uc001ilr.2_Intron|CCDC3_uc009xjc.1_Intron NM_031455 NP_113643 Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 precursor 72 endoplasmic reticulum|extracellular region ovary(1) 1 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) AGTAGAAGAGGCCCCCCTGGCC 0.713 VIM 7431 broad.mit.edu 37 10 17271730 17271731 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:17271730_17271731insA uc001iou.2 + 2 722_723 c.309_310insA c.(307-312)GAGAAGfs p.E103fs uc001iot.1_RNA|VIM_uc001iov.1_Frame_Shift_Ins_p.E103fs|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Frame_Shift_Ins_p.E103fs|VIM_uc001ioy.1_Frame_Shift_Ins_p.E103fs|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Frame_Shift_Ins_p.E103fs|VIM_uc001ipc.1_Frame_Shift_Ins_p.E103fs NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 103_104 Rod.|Coil 1A. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GCACCAACGAGAAGGTGGAGCT 0.619 IDE 3416 broad.mit.edu 37 10 94297296 94297296 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:94297296delT uc001kia.2 - 2 186 c.110delA c.(109-111)AAGfs p.K37fs NM_004969 NP_004960 P14735 IDE_HUMAN insulin-degrading enzyme isoform 1 precursor 37 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTGTAAGTCTTTTTTTGGAA 0.343 ZRANB1 54764 broad.mit.edu 37 10 126631810 126631810 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:126631810delA uc001lic.2 + 1 1119 c.748delA c.(748-750)AAAfs p.K250fs ZRANB1_uc010qug.1_Frame_Shift_Del_p.K276fs NM_017580 NP_060050 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 250 positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|kidney(1) 2 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) AGTAGACTTTAAAAAACTAAA 0.413 ARHGEF17 9828 broad.mit.edu 37 11 73020197 73020197 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:73020197delC uc001otu.2 + 1 535 c.514delC c.(514-516)CCCfs p.P172fs NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 172 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 ACCGACGCCACCCCCTCGGAC 0.751 DYNC2H1 79659 broad.mit.edu 37 11 103349968 103349969 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:103349968_103349969insA uc001pho.2 + 89 13055_13056 c.12911_12912insA c.(12910-12912)CTAfs p.L4304fs DYNC2H1_uc001phn.1_Frame_Shift_Ins_p.L4311fs|DYNC2H1_uc009yxe.1_Frame_Shift_Ins_p.L917fs NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4304 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) GCTCTATTCCTAAAAAATCAGT 0.391 UHRF1BP1L 23074 broad.mit.edu 37 12 100452511 100452512 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:100452511_100452512insA uc001tgq.2 - 14 2772_2773 c.2543_2544insT c.(2542-2544)GTAfs p.V848fs UHRF1BP1L_uc001tgp.2_Frame_Shift_Ins_p.V498fs NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 848 ovary(2) 2 GACTGCCAGTTACAGCTTCTAC 0.411 ARL6IP4 51329 broad.mit.edu 37 12 123466124 123466126 + In_Frame_Del DEL CTT CTT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:123466124_123466126delCTT uc001ued.2 + 3 591_593 c.536_538delCTT c.(535-540)CCTTCT>CCT p.S180del ARL6IP4_uc001uec.2_Intron|ARL6IP4_uc001uee.2_Intron|ARL6IP4_uc001uef.2_Intron|ARL6IP4_uc001ueg.2_Intron|ARL6IP4_uc009zxt.2_In_Frame_Del_p.S46del|ARL6IP4_uc001ueh.2_Intron|ARL6IP4_uc001uei.2_Intron NM_018694 NP_061164 Q66PJ3 AR6P4_HUMAN SRp25 nuclear protein isoform 1 180 Ser-rich. RNA splicing nucleus 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) CCAGCCTCACCTTCTCCCTGCAT 0.483 FBXL3 26224 broad.mit.edu 37 13 77581488 77581488 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:77581488delT uc001vkd.2 - 5 1450 c.1079delA c.(1078-1080)AATfs p.N360fs NM_012158 NP_036290 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 360 LRR 6. regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) AGCTGACAAATTTTTGCAACG 0.433 ARHGAP5 394 broad.mit.edu 37 14 32560445 32560445 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:32560445delA uc001wrl.2 + 2 809 c.570delA c.(568-570)TCAfs p.S190fs ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 190 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) TATCAAAATCAAAAAAACCTG 0.308 PCNX 22990 broad.mit.edu 37 14 71500186 71500186 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:71500186delT uc001xmo.2 + 17 4045 c.3599delT c.(3598-3600)ATTfs p.I1200fs PCNX_uc010are.1_Frame_Shift_Del_p.I1089fs|PCNX_uc010arf.1_Frame_Shift_Del_p.I60fs NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1200 Helical; (Potential). integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTTTTCTCCATTTTTTGTGGT 0.338 TRAF3 7187 broad.mit.edu 37 14 103372037 103372038 + Frame_Shift_Del DEL TG TG - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:103372037_103372038delTG uc001ymc.1 + 12 1976_1977 c.1623_1624delTG c.(1621-1626)ACTGTTfs p.T541fs TRAF3_uc001yme.1_Frame_Shift_Del_p.T516fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.T541fs|TRAF3_uc010txy.1_Frame_Shift_Del_p.T458fs NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 541_542 MATH. apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) TGGCCCAAACTGTTCTAGAAAA 0.465 BAHD1 22893 broad.mit.edu 37 15 40750958 40750958 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:40750958delC uc001zlu.2 + 2 366 c.295delC c.(295-297)CCCfs p.P99fs BAHD1_uc001zlt.2_Frame_Shift_Del_p.P99fs|BAHD1_uc010bbp.1_Frame_Shift_Del_p.P99fs|BAHD1_uc001zlv.2_Frame_Shift_Del_p.P99fs NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 99 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CCTGCCCAAGCCCCCCAGCCC 0.652 MAP2K5 5607 broad.mit.edu 37 15 67938762 67938762 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:67938762delT uc002aqu.2 + 11 1344 c.691delT c.(691-693)TTTfs p.F231fs MAP2K5_uc002aqt.1_Frame_Shift_Del_p.F231fs|MAP2K5_uc002aqv.2_Frame_Shift_Del_p.F231fs|MAP2K5_uc002aqw.2_Frame_Shift_Del_p.F71fs|MAP2K5_uc002aqx.2_Frame_Shift_Del_p.F41fs NM_145160 NP_660143 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 231 Protein kinase. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2) 2 TTATGGAGCATTTTTTGTAGA 0.294 RBL2 5934 broad.mit.edu 37 16 53513902 53513905 + Splice_Site DEL AAGT AAGT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:53513902_53513905delAAGT uc002ehi.3 + 19 2999 c.2881_splice c.e19+1 p.T961_splice RBL2_uc002ehj.2_Splice_Site_p.T671_splice|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 ACAAAGATAGAAGTAAGTGGGATC 0.328 C16orf74 404550 broad.mit.edu 37 16 85743813 85743813 + Frame_Shift_Del DEL G G - rs112376688 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:85743813delG uc002fjc.3 - 3 305 c.129delC c.(127-129)CCCfs p.P43fs NM_206967 NP_996850 Q96GX8 CP074_HUMAN MGC17624 protein 43 0 CCGTGGGGGTGGGGGGCGTGA 0.672 NUP88 4927 broad.mit.edu 37 17 5322735 5322737 + In_Frame_Del DEL AAG AAG - rs146275519 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:5322735_5322737delAAG uc002gbo.1 - 1 260_262 c.234_236delCTT c.(232-237)TTCTTA>TTA p.F78del NUP88_uc010vsx.1_In_Frame_Del_p.F78del|NUP88_uc010cle.1_In_Frame_Del_p.F78del|NUP88_uc010vsy.1_In_Frame_Del_p.F78del|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 78 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 GCGAACGACTAAGAAGGAGCTGT 0.645 TP53 7157 broad.mit.edu 37 17 7578475 7578475 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:7578475delG uc002gim.2 - 5 649 c.455delC c.(454-456)CCGfs p.P152fs TP53_uc002gig.1_Frame_Shift_Del_p.P152fs|TP53_uc002gih.2_Frame_Shift_Del_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P20fs|TP53_uc010cng.1_Frame_Shift_Del_p.P20fs|TP53_uc002gii.1_Frame_Shift_Del_p.P20fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P152fs|TP53_uc010cni.1_Frame_Shift_Del_p.P152fs|TP53_uc002gij.2_Frame_Shift_Del_p.P152fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.P59fs|TP53_uc002gio.2_Frame_Shift_Del_p.P20fs|TP53_uc010vug.1_Frame_Shift_Del_p.P113fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 152 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTGCCGGGCGGGGGTGTGGA 0.612 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) KDM6B 23135 broad.mit.edu 37 17 7753244 7753244 + Frame_Shift_Del DEL C C - rs147319715 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:7753244delC uc002giw.1 + 12 3922 c.3546delC c.(3544-3546)AACfs p.N1182fs KDM6B_uc002gix.2_Frame_Shift_Del_p.N484fs NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1182 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 AAAAACTCAACCCCCCTACAC 0.552 CDK12 51755 broad.mit.edu 37 17 37646922 37646922 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:37646922delC uc010cvv.2 + 3 2630 c.2044delC c.(2044-2046)CCCfs p.P682fs CDK12_uc010wef.1_Frame_Shift_Del_p.P681fs|CDK12_uc002hrw.3_Frame_Shift_Del_p.P682fs NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 682 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 AGATCTGTCTCCCCCAGACTC 0.468 TCGA Ovarian(9;0.13) NOL11 25926 broad.mit.edu 37 17 65718702 65718703 + Frame_Shift_Del DEL AA AA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:65718702_65718703delAA uc002jgd.1 + 5 471_472 c.468_469delAA c.(466-471)ACAAAGfs p.T156fs NOL11_uc010wql.1_Intron|NOL11_uc010deu.1_5'UTR NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN nucleolar protein 11 156_157 nucleolus 0 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) GTAGATGGACAAAGTTTTTCGT 0.267 C19orf2 8725 broad.mit.edu 37 19 30496293 30496293 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:30496293delA uc002nsr.2 + 5 423 c.393delA c.(391-393)TTAfs p.L131fs C19orf2_uc002nsq.2_Frame_Shift_Del_p.L113fs|C19orf2_uc002nss.2_Frame_Shift_Del_p.L91fs|C19orf2_uc002nst.2_Frame_Shift_Del_p.L55fs NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 131 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) TAGATGACTTAAAAAAAGTGA 0.299 SCAF1 58506 broad.mit.edu 37 19 50155694 50155694 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:50155694delG uc002poq.2 + 7 2172 c.2048delG c.(2047-2049)CGGfs p.R683fs NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 683 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) AGCCGCCGCCGGGGGGCCGTG 0.602 PXDN 7837 broad.mit.edu 37 2 1683982 1683982 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:1683982delG uc002qxa.2 - 7 777 c.713delC c.(712-714)CCGfs p.P238fs PXDN_uc002qxb.1_Frame_Shift_Del_p.P238fs|PXDN_uc002qxc.1_Frame_Shift_Del_p.P55fs NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 238 LRRCT. 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) CAGCTCTTCCGGGGTGATGGT 0.438 RAD51AP2 729475 broad.mit.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:17698737delT uc002rcl.1 - 1 970 c.946delA c.(946-948)ACTfs p.T316fs RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 316 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCTTCTACAGTTTTTTTATCA 0.328 IRS1 3667 broad.mit.edu 37 2 227662789 227662791 + In_Frame_Del DEL GAA GAA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:227662789_227662791delGAA uc002voh.3 - 1 716_718 c.664_666delTTC c.(664-666)TTCdel p.F222del NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 222 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CCACCTCGATGAAGAAGAAGTTT 0.606 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HTR3D 200909 broad.mit.edu 37 3 183756182 183756182 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:183756182delC uc011bqv.1 + 7 905 c.905delC c.(904-906)ACCfs p.T302fs HTR3D_uc003fmj.2_Intron|HTR3D_uc011bqu.1_Intron|HTR3D_uc010hxp.2_Intron NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 302 Extracellular (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CTCATGCAGACCCCCTTGCCT 0.582 EIF2B5 8893 broad.mit.edu 37 3 183853261 183853261 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:183853261delG uc003fmp.2 + 1 452 c.88delG c.(88-90)GGGfs p.G30fs EIF2B5_uc010hxs.2_Frame_Shift_Del_p.G30fs|EIF2B5_uc003fmq.2_5'UTR NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 30 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAGCGGTGGCGGGGGAGCCAG 0.682 OREG0015363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ERBB2IP 55914 broad.mit.edu 37 5 65320241 65320243 + In_Frame_Del DEL ATC ATC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:65320241_65320243delATC uc003juk.1 + 10 1088_1090 c.780_782delATC c.(778-783)TTATCA>TTA p.S262del ERBB2IP_uc003juh.1_In_Frame_Del_p.S262del|ERBB2IP_uc003jui.1_In_Frame_Del_p.S262del|ERBB2IP_uc003juj.1_In_Frame_Del_p.S262del|ERBB2IP_uc011cqx.1_In_Frame_Del_p.S262del|ERBB2IP_uc011cqy.1_In_Frame_Del_p.S262del|ERBB2IP_uc011cqz.1_In_Frame_Del_p.S262del|ERBB2IP_uc010iwx.1_In_Frame_Del_p.S262del|ERBB2IP_uc003jul.1_In_Frame_Del_p.S262del NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 262 LRR 11. basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) ACCTCCTATTATCAAGCAATTCA 0.310 BDP1 55814 broad.mit.edu 37 5 70791221 70791221 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:70791221delA uc003kbp.1 + 12 2048 c.1785delA c.(1783-1785)CTAfs p.L595fs BDP1_uc003kbn.1_Frame_Shift_Del_p.L595fs|BDP1_uc003kbo.2_Frame_Shift_Del_p.L595fs NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 595 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ATGTTGACCTAAAAAATAATT 0.303 VCAN 1462 broad.mit.edu 37 5 82816273 82816275 + In_Frame_Del DEL AGA AGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:82816273_82816275delAGA uc003kii.3 + 7 2504_2506 c.2148_2150delAGA c.(2146-2151)ACAGAA>ACA p.E719del VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_In_Frame_Del_p.E719del|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 719 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGGGAAAAACAGAAGAAGAAGTC 0.369 CDC25C 995 broad.mit.edu 37 5 137622195 137622195 + Frame_Shift_Del DEL C C - rs66784649 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:137622195delC uc003lcp.1 - 12 1422 c.1151delG c.(1150-1152)GGCfs p.G384fs CDC25C_uc003lcq.1_Frame_Shift_Del_p.G311fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.G384fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.G401fs|CDC25C_uc003lcs.1_Frame_Shift_Del_p.G462fs NM_001790 NP_001781 P30307 MPIP3_HUMAN cell division cycle 25C isoform a 384 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding lung(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CATTCGGGGGCCCCTCTCTGA 0.478 CNOT6 57472 broad.mit.edu 37 5 179992921 179992921 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:179992921delA uc003mlx.2 + 7 1010 c.661delA c.(661-663)AAAfs p.K221fs CNOT6_uc010jld.2_Frame_Shift_Del_p.K221fs|CNOT6_uc010jle.2_Frame_Shift_Del_p.K216fs NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 221 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding 0 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) GGACTACAGGAAAAAGGCCAT 0.418 DEK 7913 broad.mit.edu 37 6 18237613 18237613 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:18237613delT uc003ncr.1 - 8 1090 c.897delA c.(895-897)AAAfs p.K299fs DEK_uc011djf.1_Frame_Shift_Del_p.K265fs|DEK_uc011djg.1_RNA NM_003472 NP_003463 P35659 DEK_HUMAN DEK oncogene isoform 1 299 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding kidney(1) 1 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CTAACATACCTTTTTTGGAAC 0.313 T NUP214 AML ZNF292 23036 broad.mit.edu 37 6 87970954 87970954 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:87970954delA uc003plm.3 + 8 7648 c.7607delA c.(7606-7608)GAAfs p.E2536fs NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2536 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GTTAATAAGGAAAAAAATGTC 0.343 UBN2 254048 broad.mit.edu 37 7 138967781 138967781 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:138967781delA uc011kqr.1 + 15 2130 c.2130delA c.(2128-2130)CCAfs p.P710fs NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 710 ovary(1)|skin(1) 2 AGTGTAGTCCAAAAAAGGACC 0.398 ADRA1A 148 broad.mit.edu 37 8 26722168 26722168 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:26722168delC uc003xfh.1 - 1 755 c.319delG c.(319-321)GTGfs p.V107fs ADRA1A_uc003xfc.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc010lul.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc010lum.1_Frame_Shift_Del_p.V107fs|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Frame_Shift_Del_p.V107fs NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 107 Helical; Name=3; (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CAGCACAGCACATCCACTGCC 0.627 NKX6-3 157848 broad.mit.edu 37 8 41504815 41504815 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:41504815delG uc003xoa.2 - 1 64 c.60delC c.(58-60)CCCfs p.P20fs NKX6-3_uc010lxa.1_Frame_Shift_Del_p.P20fs NM_152568 NP_689781 A6NJ46 NKX63_HUMAN NK6 homeobox 3 Error:Variant_position_missing_in_A6NJ46_after_alignment nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154) 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) GTTGGAGCTCGGGGAGGCCCC 0.652 VPS13B 157680 broad.mit.edu 37 8 100050671 100050671 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:100050671delT uc003yiv.2 + 3 279 c.168delT c.(166-168)ACTfs p.T56fs VPS13B_uc003yiw.2_Frame_Shift_Del_p.T56fs|VPS13B_uc003yit.2_Frame_Shift_Del_p.T56fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.T56fs|VPS13B_uc003yis.2_Frame_Shift_Del_p.T56fs|VPS13B_uc011lgy.1_5'UTR NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 56 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) TACCATTCACTTTTTTAAGTG 0.254 CNTLN 54875 broad.mit.edu 37 9 17484353 17484353 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:17484353delA uc003zmz.2 + 24 3939 c.3913delA c.(3913-3915)AAAfs p.K1305fs CNTLN_uc003zmy.2_Frame_Shift_Del_p.K1306fs|CNTLN_uc010mio.2_Frame_Shift_Del_p.K985fs NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1306 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) AAGAGAGCTTAAAAAAATGAA 0.398 MXRA5 25878 broad.mit.edu 37 X 3227803 3227803 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:3227803delT uc004crg.3 - 7 8598 c.8441delA c.(8440-8442)AACfs p.N2814fs NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2814 Ig-like C2-type 12. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCCGAGAATGTTTTTTGCCAT 0.468 LANCL3 347404 broad.mit.edu 37 X 37515027 37515027 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:37515027delC uc011mkd.1 + 2 962 c.660delC c.(658-660)TTCfs p.F220fs LANCL3_uc004ddp.1_Frame_Shift_Del_p.F220fs NM_198511 NP_940913 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 220 catalytic activity 0 GGAAACCATTCCCCCTGATGT 0.428 TSPYL2 64061 broad.mit.edu 37 X 53111923 53111923 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:53111923delG uc004drw.2 + 1 375 c.243delG c.(241-243)GAGfs p.E81fs TSPYL2_uc004drv.2_Frame_Shift_Del_p.E81fs|TSPYL2_uc004drx.1_5'Flank NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN TSPY-like 2 81 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding 0 TTCTCGAGGAGGGGGGGATCC 0.692 BCORL1 63035 broad.mit.edu 37 X 129149422 129149422 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:129149422delG uc004evb.1 + 4 2788 c.2674delG c.(2674-2676)GGGfs p.G892fs BCORL1_uc010nrd.1_Frame_Shift_Del_p.G794fs NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 892 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 ACCACGGCCTGGGGGCTCCTT 0.562 GABRD 2563 broad.mit.edu 37 1 1956774 1956775 + Splice_Site INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:1956773_1956774G>GC uc001aip.2 + 3 277 c.182_splice c.e3-1 p.G61_splice NM_000815 NP_000806 O14764 GBRD_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA. 61 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.V64fs*365(1) central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TTCCTTGCAGGCCCCCCCGTGA 0.644 VPS13D 55187 broad.mit.edu 37 1 12381923 12381923 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:12381922_12381922CG>C uc001atv.3 + 32 7746 c.7605_7605CG>C c.(7603-7605)cccfs p.P2535fs VPS13D_uc001atw.3_Frame_Shift_Del_p.P2535fs|VPS13D_uc001atx.3_Frame_Shift_Del_p.P1723fs|VPS13D_uc001aty.1_Frame_Shift_Del_p.P273fs NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2535 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTGTGGATCCCGTACAAATTC 0.398 CAPZB 832 broad.mit.edu 37 1 19671731 19671731 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:19671730_19671730GT>G uc010ocz.2 - 6 1120 c.692_692AC>C c.(691-693)actfs p.T231fs CAPZB_uc001bce.3_Frame_Shift_Del_p.T202fs|CAPZB_uc021ohr.1_Frame_Shift_Del_p.T202fs|CAPZB_uc009vpk.3_Frame_Shift_Del_p.T228fs NM_004930 NP_004921 P47756 CAPZB_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, beta (CAPZB), transcript variant 1, mRNA. 202 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement F-actin capping protein complex|WASH complex|cytosol actin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) GTCACTCACAGTTTCATCCTT 0.557 ARID1A 8289 broad.mit.edu 37 1 27089706 27089707 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:27089705_27089706A>AG uc001bmv.1 + 7 3034_3035 c.2661_2662A>AG c.(2659-2664)ccagggfs p.P887fs ARID1A_uc001bmt.1_Frame_Shift_Ins_p.P887fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.P887fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.P504fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 887 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 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) GTCCCCCACCAGGGGGCATGAA 0.574 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" ARID1A 8289 broad.mit.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 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""" S100PBP 64766 broad.mit.edu 37 1 33292220 33292221 + Frame_Shift_Del DEL CT CT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:33292219_33292220ACT>A uc001bvz.3 + 2 796_797 c.519_520ACT>A c.(517-522)aaactcfs p.K173fs S100PBP_uc001bwa.1_Frame_Shift_Del_p.K173fs|S100PBP_uc001bwb.1_Frame_Shift_Del_p.K173fs|S100PBP_uc001bwc.3_Frame_Shift_Del_p.K173fs|S100PBP_uc001bwd.3_Non-coding_Transcript NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA. 173 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) ATACTGAAAAACTCTCTTCCCT 0.401 CYP4A11 1579 broad.mit.edu 37 1 47398673 47398674 + Frame_Shift_Del DEL TT TT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:47398672_47398673CTT>C uc001cqp.4 - 9 1320_1321 c.1269_1270AAG>G c.(1267-1272)aaagtgfs p.K423fs CYP4A11_uc001cqq.2_Frame_Shift_Del_p.K423fs NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 423 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TTGGGCCACACTTTTGGGTTGT 0.525 TYW3 127253 broad.mit.edu 37 1 75229742 75229743 + In_Frame_Ins INS - - ATG rs112765232 by1000genomes TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:75229741_75229742A>AATG uc001dgn.3 + 5 817_818 c.724_725A>AATG c.(724-726)aat>AATGt p.N242N TYW3_uc010oqw.2_In_Frame_Ins_p.N209N|TYW3_uc010oqx.2_In_Frame_Ins_p.N158N|TYW3_uc010oqy.2_Non-coding_Transcript NM_138467 NP_612476 Q6IPR3 TYW3_HUMAN Homo sapiens tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) (TYW3), transcript variant 1, mRNA. 242 tRNA processing methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1) 15 AGAACTTGAAAATGATGATGAT 0.337 OLFML3 56944 broad.mit.edu 37 1 114523959 114523960 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:114523958_114523959T>TC uc001eer.1 + 2 897_898 c.788_789T>TC c.(787-789)atcfs p.I263fs OLFML3_uc001ees.1_Frame_Shift_Ins_p.I243fs|OLFML3_uc001eet.1_Frame_Shift_Ins_p.I119fs NM_020190 NP_064575 Q9NRN5 OLFL3_HUMAN Homo sapiens olfactomedin-like 3 (OLFML3), mRNA. 263 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGGGCTGATCCCCCCCTACG 0.559 POGZ 23126 broad.mit.edu 37 1 151400826 151400827 + Frame_Shift_Ins INS - - T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:151400825_151400826A>AT uc001eyd.2 - 5 947_948 c.632_633T>AT c.(631-633)cctfs p.P211fs POGZ_uc021oyq.1_Frame_Shift_Ins_p.P158fs|POGZ_uc010pdb.2_Frame_Shift_Ins_p.P211fs|POGZ_uc010pdc.2_Frame_Shift_Ins_p.P158fs|POGZ_uc009wmv.2_Frame_Shift_Ins_p.P116fs|POGZ_uc001eyf.2_Frame_Shift_Ins_p.P158fs|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Frame_Shift_Ins_p.P211fs NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA. 211 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding p.P211H(2) NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTGGCCTCACAGGGGTCATCTG 0.550 ADAR 103 broad.mit.edu 37 1 154571020 154571020 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:154571019_154571019TG>T uc001ffh.3 - 2 1886 c.1644_1644CA>A c.(1642-1644)ccafs p.P548fs ADAR_uc021pag.1_Frame_Shift_Del_p.P253fs|ADAR_uc001ffj.3_Frame_Shift_Del_p.P548fs|ADAR_uc001ffi.3_Frame_Shift_Del_p.P548fs|ADAR_uc001ffk.3_Frame_Shift_Del_p.P253fs NM_001111 NP_001180424 P55265 DSRAD_HUMAN Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA. 548 DRBM 1. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CAGCTTCAGCTGGGGGAAACT 0.473 VHLL 391104 broad.mit.edu 37 1 156268591 156268592 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:156268590_156268591C>CA uc001fok.3 - 0 838_839 c.390_391G>TG c.(388-393)tttgccfs p.F130fs NM_001004319 NP_001004319 Q6RSH7 VHLL_HUMAN Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA. 130 Beta-domain. protein ubiquitination nucleus endometrium(1)|lung(2)|ovary(1) 4 Hepatocellular(266;0.158) GTGATGTTGGCAAAAACAGGCT 0.460 UAP1 6675 broad.mit.edu 37 1 162546600 162546602 + In_Frame_Del DEL TTC TTC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:162546599_162546601GTTC>G uc001gce.4 + 2 642_644 c.313_315GTTC>G c.(313-315)gtt>G p.V105del NM_003115 NP_003106 Q16222 UAP1_HUMAN Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA. 105 UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TAAAGTAGCAGTTCTTCTTCTAG 0.394 DHX9 1660 broad.mit.edu 37 1 182856514 182856514 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:182856513_182856513AG>A uc001gpr.3 + 27 3932 c.3757_3757AG>A c.(3757-3759)aggfs p.R1253fs DHX9_uc001gps.3_Frame_Shift_Del_p.R1039fs|DHX9_uc001gpt.3_Frame_Shift_Del_p.R532fs|DHX9_uc009wyd.3_Frame_Shift_Del_p.R218fs NM_001357 NP_001348 Q08211 DHX9_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA. 1253 NTD. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 AGGAGGTGGTAGGGGGGCCTA 0.527 PPP1R12B 4660 broad.mit.edu 37 1 202549645 202549645 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:202549644_202549644GA>G uc001gya.2 + 23 3055 c.2905_2905GA>G c.(2905-2907)gaafs p.E969fs PPP1R12B_uc001gyb.1_3'UTR|PPP1R12B_uc001gyc.1_Frame_Shift_Del_p.E195fs|PPP1R12B_uc021pho.1_Frame_Shift_Del_p.E173fs NM_002481 NP_002472 O60237 MYPT2_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA. 969 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GCTGAAAGATGAAAATGGTGC 0.512 PLXNA2 5362 broad.mit.edu 37 1 208391176 208391177 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:208391175_208391176T>TG uc001hgz.3 - 1 850_851 c.92_93A>CA c.(91-93)ccafs p.P31fs PLXNA2_uc001hha.4_Frame_Shift_Ins_p.P85fs NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 31 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TGCCGGCTGCTGGGGGGGCCAG 0.653 ESRRG 2104 broad.mit.edu 37 1 216680306 216680306 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:216680305_216680305CA>C uc001hkw.2 - 6 1526 c.1353_1353TG>G c.(1351-1353)ttgfs p.L451fs ESRRG_uc009xdp.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hky.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hkz.2_Frame_Shift_Del_p.L389fs|ESRRG_uc010puc.2_Frame_Shift_Del_p.L428fs|ESRRG_uc001hla.2_Frame_Shift_Del_p.L428fs|ESRRG_uc001hlb.2_Frame_Shift_Del_p.L428fs|ESRRG_uc010pud.2_Frame_Shift_Del_p.L266fs|ESRRG_uc021pja.1_Frame_Shift_Del_p.L200fs|ESRRG_uc001hlc.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hld.1_Frame_Shift_Del_p.L428fs|ESRRG_uc001hkx.2_Frame_Shift_Del_p.L463fs|ESRRG_uc009xdo.2_Frame_Shift_Del_p.L428fs|ESRRG_uc001hle.2_Frame_Shift_Del_p.L428fs|ESRRG_uc021piz.1_Frame_Shift_Del_p.L428fs NM_001438 NP_001230435 P62508 ERR3_HUMAN Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA. 451 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CCAACATTTCCAAAAAAAGTT 0.458 ZNF692 55657 broad.mit.edu 37 1 249151581 249151582 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr1:249151580_249151581G>GC uc001ifc.2 - 3 538_539 c.327_328C>GC c.(325-330)gggcttfs p.G109fs ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Frame_Shift_Ins_p.G114fs|ZNF692_uc001iff.2_Frame_Shift_Ins_p.G109fs NM_017865 NP_060335 Q9BU19 ZN692_HUMAN Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA. 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) TCCCACACAAGCCCCCCATCTT 0.619 CIB4 130106 broad.mit.edu 37 2 26818155 26818156 + Frame_Shift_Del DEL CT CT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:26818154_26818155ACT>A uc002rhm.3 - 3 246_247 c.217_218AGT>T c.(217-219)gtgfs p.V73fs NM_001029881 NP_001025052 A0PJX0 CIB4_HUMAN Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA. 73 EF-hand 1. calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGGAGAACACTCTGCAGATA 0.564 AGBL5 60509 broad.mit.edu 37 2 27278901 27278902 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:27278900_27278901T>TC uc002rie.3 + 6 1476_1477 c.1259_1260T>TC c.(1258-1260)atcfs p.I420fs AGBL5_uc002rid.3_Frame_Shift_Ins_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA. 420 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGATACCATCCCCCCCAAAG 0.515 WBP1 23559 broad.mit.edu 37 2 74687410 74687411 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:74687409_74687410A>AC uc002slj.2 + 3 614_615 c.411_412A>AC c.(409-414)ccacccfs p.P137fs INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript NM_012477 NP_036609 Q96G27 WBP1_HUMAN Homo sapiens WW domain binding protein 1 (WBP1), mRNA. 137 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 CAGGCACACCACCCCCCCCTTA 0.584 RIF1 55183 broad.mit.edu 37 2 152301934 152301934 + Frame_Shift_Del DEL T T - rs150866594 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:152301933_152301933AT>A uc002txm.3 + 18 2229 c.2068_2068AT>A c.(2068-2070)attfs p.I690fs RIF1_uc010fnv.2_Frame_Shift_Del_p.I654fs|RIF1_uc002txn.3_Frame_Shift_Del_p.I690fs|RIF1_uc002txl.3_Frame_Shift_Del_p.I690fs|RIF1_uc002txo.3_Frame_Shift_Del_p.I690fs NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA. 690 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AGTAAACCACATTTTTTCAGA 0.313 MFSD6 54842 broad.mit.edu 37 2 191302246 191302246 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:191302245_191302245AT>A uc002urz.2 + 2 1814 c.1490_1490AT>A c.(1489-1491)tatfs p.Y497fs NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA. 497 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 CTGACAGCATATTTTTTTAGT 0.423 ZNF142 7701 broad.mit.edu 37 2 219508084 219508084 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr2:219508083_219508083TC>T uc002vin.3 - 7 3592 c.3156_3156GA>A c.(3154-3156)ggafs p.G1052fs ZNF142_uc002vil.3_Frame_Shift_Del_p.G1013fs|ZNF142_uc010fvt.3_Frame_Shift_Del_p.G889fs|ZNF142_uc002vim.3_Frame_Shift_Del_p.G889fs NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 1052 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 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) CCCCGCCACGTCCCCCCCTGC 0.602 TRAK1 22906 broad.mit.edu 37 3 42242450 42242450 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:42242449_42242449AC>A uc003cky.3 + 11 1546 c.1330_1330AC>A c.(1330-1332)accfs p.T444fs TRAK1_uc011azh.2_Frame_Shift_Del_p.T444fs|TRAK1_uc011azi.2_Frame_Shift_Del_p.T444fs|TRAK1_uc003ckz.4_Frame_Shift_Del_p.T370fs|TRAK1_uc011azj.2_Frame_Shift_Del_p.T370fs|TRAK1_uc003cla.3_Frame_Shift_Del_p.T386fs NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA. 444 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CTGCGTCAGCACCCCCCGGTC 0.597 KLHDC8B 200942 broad.mit.edu 37 3 49212566 49212566 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:49212565_49212565TG>T uc003cwh.3 + 4 1072 c.837_837TG>T c.(835-837)cttfs p.L279fs KLHDC8B_uc003cwi.1_3'UTR NM_173546 NP_775817 Q8IXV7 KLD8B_HUMAN Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA. 279 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TTGGGTCCCTTGGGGGCCACA 0.597 FLNB 2317 broad.mit.edu 37 3 58118575 58118576 + Frame_Shift_Ins INS - - CA TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:58118574_58118575G>GCA uc003djj.2 + 25 4595_4596 c.4430_4431G>GCA c.(4429-4431)ggcfs p.G1477fs FLNB_uc010hne.2_Frame_Shift_Ins_p.G1508fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.G1308fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.G1308fs NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1477 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AATGGAGATGGCACACACACAG 0.520 FEZF2 55079 broad.mit.edu 37 3 62357222 62357222 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:62357221_62357221AT>A uc003dlh.2 - 1 1181 c.974_974AT>T c.(973-975)attfs p.I325fs FEZF2_uc003dli.2_Frame_Shift_Del_p.I325fs NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA. 325 transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1) 20 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) GGTGTGGATAATTTTGTGCCT 0.612 ZBBX 79740 broad.mit.edu 37 3 167068281 167068283 + In_Frame_Del DEL TCT TCT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:167068280_167068282ATCT>A uc011bpc.2 - 8 791_793 c.454_456AGAT>T c.(454-456)gat>T p.D152del ZBBX_uc003feq.3_In_Frame_Del_p.D123del|ZBBX_uc003fep.3_In_Frame_Del_p.D152del NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 152 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CTGAACAATAATCTTCTCCACAT 0.310 MECOM 2122 broad.mit.edu 37 3 168818750 168818751 + Splice_Site DEL TC TC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:168818749_168818750ATC>A uc011bpj.1 - 12 3175 c.2772_splice c.e12-1 p.R924_splice MECOM_uc010hwk.1_Splice_Site_p.R750_splice|MECOM_uc003ffj.3_Splice_Site_p.R801_splice|MECOM_uc003ffi.3_Splice_Site_p.R736_splice|MECOM_uc011bpi.1_Splice_Site_p.R728_splice|MECOM_uc003ffn.3_Splice_Site_p.R736_splice|MECOM_uc003ffk.2_Splice_Site_p.R727_splice|MECOM_uc003ffl.2_Splice_Site_p.R887_splice|MECOM_uc011bpk.1_Splice_Site_p.R736_splice NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTGCCACAGTATCTGTTATGAA 0.401 TTC14 151613 broad.mit.edu 37 3 180323593 180323594 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:180323592_180323593G>GA uc003fkk.3 + 6 1028_1029 c.896_897G>GA c.(895-897)agafs p.R299fs TTC14_uc003fkl.3_Frame_Shift_Ins_p.R299fs|TTC14_uc003fkm.2_Frame_Shift_Ins_p.R299fs NM_133462 NP_597719 Q96N46 TTC14_HUMAN Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA. 299 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCTGCATTGAGAAAAAAACAAT 0.292 TNK2 10188 broad.mit.edu 37 3 195595229 195595230 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr3:195595228_195595229C>CG uc003fvu.1 - 11 2438_2439 c.1895_1896G>CG c.(1894-1896)ccgfs p.P632fs TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA. 632 Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CATAGGCGGGCGGGGGGGGCAG 0.728 STAP1 26228 broad.mit.edu 37 4 68447135 68447135 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:68447134_68447134GA>G uc003hde.4 + 4 557 c.475_475GA>G c.(475-477)gaafs p.E159fs STAP1_uc003hdf.3_Frame_Shift_Del_p.E159fs NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA. 159 cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 TACGTCCGTGGAAAAAGAGAA 0.423 AGPAT9 84803 broad.mit.edu 37 4 84511411 84511411 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:84511410_84511410GT>G uc003how.3 + 6 921 c.703_703GT>G c.(703-705)gttfs p.V235fs AGPAT9_uc003hox.3_Frame_Shift_Del_p.V235fs|AGPAT9_uc003hoy.3_Frame_Shift_Del_p.V235fs NM_032717 NP_116106 Q53EU6 GPAT3_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA. 235 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) CCCCATTGATGTTTTAATCTT 0.368 ARHGAP24 83478 broad.mit.edu 37 4 86916560 86916560 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:86916559_86916559TG>T uc003hpk.3 + 8 2201 c.1752_1752TG>T c.(1750-1752)tttfs p.F584fs ARHGAP24_uc003hpl.3_Frame_Shift_Del_p.F489fs|ARHGAP24_uc010ikf.3_Frame_Shift_Del_p.F499fs|ARHGAP24_uc003hpm.3_Frame_Shift_Del_p.F491fs NM_001025616 NP_001036134 Q8N264 RHG24_HUMAN Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA. 584 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AAGACTTTTTTGGGGGGAACT 0.557 PLK4 10733 broad.mit.edu 37 4 128807221 128807221 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:128807220_128807220CT>C uc003ifo.3 + 4 969 c.695_695CT>C c.(694-696)tctfs p.S232fs PLK4_uc011cgs.2_Frame_Shift_Del_p.S200fs|PLK4_uc011cgt.2_Frame_Shift_Del_p.S191fs NM_014264 NP_001177730 O00444 PLK4_HUMAN Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA. 232 Protein kinase. S -> T (in dbSNP:rs3811740). G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P231T(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 GAAATGCCATCTTTTTTGTCA 0.378 DDX60 55601 broad.mit.edu 37 4 169173785 169173785 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr4:169173784_169173784GT>G uc003irp.3 - 26 3873 c.3581_3581AC>C c.(3580-3582)accfs p.T1194fs NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 1194 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CACATTTCTGGTTTTTTTCTG 0.323 REEP5 7905 broad.mit.edu 37 5 112214491 112214493 + In_Frame_Del DEL TCT TCT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:112214490_112214492CTCT>C uc003kqe.1 - 4 705_707 c.561_563AGAG>G c.(559-564)aagagc>aaGc p.S188del SRP19_uc011cvu.2_Intron|REEP5_uc011cvw.1_In_Frame_Del_p.S161del|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_3'UTR|REEP5_uc011cvz.1_Non-coding_Transcript NM_005669 NP_005660 Q00765 REEP5_HUMAN Homo sapiens receptor accessory protein 5 (REEP5), mRNA. 188 integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) GGTTTAGGTGCTCTTCTTTTCTT 0.389 TAF7 6879 broad.mit.edu 37 5 140699362 140699362 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:140699361_140699361GT>G uc003ljg.3 - 0 991 c.251_251AC>C c.(250-252)actfs p.T84fs NM_005642 NP_005633 Q15545 TAF7_HUMAN Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA. 84 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGTAAAAAGTTTTTTTATC 0.443 SPINK5 11005 broad.mit.edu 37 5 147465986 147465986 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr5:147465985_147465985TA>T uc003lox.2 + 4 373 c.300_300TA>T c.(298-300)tttfs p.F100fs SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Del_p.F72fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.F81fs|SPINK5_uc003low.2_Frame_Shift_Del_p.F100fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.F100fs NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 100 Kazal-like 2. 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 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGATGATTTTAAAAAAGGAG 0.343 TMEM14A 28978 broad.mit.edu 37 6 52546638 52546638 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:52546637_52546637CT>C uc003pax.3 + 2 273 c.97_97CT>C c.(97-99)cttfs p.L33fs NM_014051 NP_054770 Q9Y6G1 TM14A_HUMAN Homo sapiens transmembrane protein 14A (TMEM14A), mRNA. 33 integral to membrane endometrium(2)|lung(2) 4 Lung NSC(77;0.118) GATTGCTGGTCTTTTTGTTGG 0.408 KLHL31 401265 broad.mit.edu 37 6 53516564 53516566 + In_Frame_Del DEL CTT CTT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:53516563_53516565ACTT>A uc003pcb.4 - 2 1877_1879 c.1736_1738AAGT>T c.(1735-1740)aagtac>aTac p.579_580KY>I AX746830_uc003pcc.1_5'UTR NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA. 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) CACTTCTTGTACTTCTTCTCGCC 0.670 OREG0017507 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HECA 51696 broad.mit.edu 37 6 139488147 139488147 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:139488146_139488146AG>A uc003qin.3 + 1 1282 c.997_997AG>A c.(997-999)aggfs p.R333fs NM_016217 NP_057301 Q9UBI9 HDC_HUMAN Homo sapiens headcase homolog (Drosophila) (HECA), mRNA. 333 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) GGCAGTTCACAGGGGGGGACA 0.587 LATS1 9113 broad.mit.edu 37 6 150005576 150005579 + Frame_Shift_Del DEL CAGA CAGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr6:150005575_150005578CCAGA>C uc003qmu.1 - 3 1195_1198 c.647_650TCTGG>G c.(646-651)tctggafs p.S216fs LATS1_uc010kif.1_Frame_Shift_Del_p.S111fs|LATS1_uc003qmv.2_Frame_Shift_Del_p.S216fs|LATS1_uc003qmw.3_Frame_Shift_Del_p.S216fs|LATS1_uc010kig.1_Frame_Shift_Del_p.S111fs NM_004690 NP_004681 O95835 LATS1_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA. 216 G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TATACCAGATCCAGACAAAGGTCT 0.510 MAGI2 9863 broad.mit.edu 37 7 79082533 79082533 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr7:79082532_79082532GC>G uc003ugx.3 - 0 359 c.105_105GC>C c.(103-105)ggcfs p.G35fs MAGI2_uc003ugy.3_Frame_Shift_Del_p.G35fs|MAGI2-AS3_uc022agq.1_Intron|MAGI2-AS3_uc022agr.1_Intron|MAGI2-AS3_uc010lea.2_5'Flank|MAGI2-AS3_uc022ags.1_5'Flank NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 35 PDZ 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CATTCTCGGCGCCCCCCTTCA 0.582 BMP1 649 broad.mit.edu 37 8 22067038 22067038 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:22067037_22067037TG>T uc003xbg.3 + 18 2921 c.2655_2655TG>T c.(2653-2655)cctfs p.P885fs BMP1_uc011kzc.2_Frame_Shift_Del_p.P634fs|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript NM_006129 NP_006120 P13497 BMP1_HUMAN Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA. 885 CUB 5. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) ACAACTACCCTGGGGGTGTGG 0.622 TG 7038 broad.mit.edu 37 8 134145764 134145764 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr8:134145763_134145763AC>A uc003ytw.3 + 46 8088 c.8047_8047AC>A c.(8047-8049)accfs p.T2683fs TG_uc010mdw.3_Frame_Shift_Del_p.T1442fs|TG_uc011ljb.2_Frame_Shift_Del_p.T1052fs|TG_uc011ljc.2_Frame_Shift_Del_p.T816fs NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2683 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 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) CACATTTGCAACCCCCTGGCC 0.493 CDKN2A 1029 broad.mit.edu 37 9 21974721 21974722 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:21974720_21974721G>GC uc003zpk.3 - 0 412_413 c.106_107C>GC c.(106-108)gcgfs p.A36fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Frame_Shift_Ins_p.A36fs|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.A36fs|CDKN2A_uc003zpl.3_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 36 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.L32_L37del(11)|p.A36T(4)|p.G35E(3)|p.G35fs*13(2)|p.V28_V51del(2)|p.G35R(2)|p.0(1)|p.E33fs*8(1)|p.L37fs*6(1)|p.A36fs*8(1)|p.G35V(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GTTGGGCAGCGCCCCCGCCTCC 0.728 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) TLE4 7091 broad.mit.edu 37 9 82267586 82267587 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr9:82267585_82267586G>GC uc004ald.3 + 6 1296_1297 c.447_448G>GC c.(445-450)cagcccfs p.Q149fs TLE4_uc004alc.3_Frame_Shift_Ins_p.Q156fs|TLE4_uc010mpr.3_Frame_Shift_Ins_p.Q35fs|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Frame_Shift_Ins_p.Q124fs|TLE4_uc010mps.3_Frame_Shift_Ins_p.Q149fs|TLE4_uc004alf.3_Frame_Shift_Ins_p.Q95fs NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 36 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CAGGGCTCCAGCCCCCTGCCAT 0.540 KIN 22944 broad.mit.edu 37 10 7817765 7817765 + Splice_Site DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:7817764_7817764TA>T uc001ijt.3 - 6 653 c.559_splice c.e6-1 p.E187_splice KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice NM_012311 NP_036443 O60870 KIN17_HUMAN Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA. 187 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix RNA binding|double-stranded DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 AGGGACCTCCTAAAAAAAAGA 0.318 KIAA1217 56243 broad.mit.edu 37 10 24669980 24669983 + Frame_Shift_Del DEL GAAA GAAA - rs61735612 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:24669979_24669982CGAAA>C uc001iru.4 + 2 939_942 c.536_539CGAAA>C c.(535-540)acgaaafs p.T179fs KIAA1217_uc001irs.3_Frame_Shift_Del_p.T99fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.T179fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.T179fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.T179fs|KIAA1217_uc001irv.1_Frame_Shift_Del_p.T29fs|KIAA1217_uc010qda.1_Non-coding_Transcript NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 179 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 ACCAACCAGACGAAAGAAAGATCT 0.475 KIAA1462 57608 broad.mit.edu 37 10 30315989 30315989 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:30315988_30315988GC>G uc009xle.2 - 2 3226 c.3089_3089GC>C c.(3088-3090)gcafs p.A1030fs KIAA1462_uc001iux.3_Frame_Shift_Del_p.A1030fs|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Frame_Shift_Del_p.A892fs NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 1030 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TGGGAGCCCTGCCCCCCTCTC 0.587 USP54 159195 broad.mit.edu 37 10 75290284 75290284 + Splice_Site DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:75290283_75290283TA>T uc001juo.3 - 12 1465 c.1448_splice c.e12-1 p.G483_splice USP54_uc001juk.3_Splice_Site|USP54_uc001jul.3_Splice_Site|USP54_uc001jum.3_Splice_Site|USP54_uc001jun.3_Splice_Site|USP54_uc001jup.3_Splice_Site_p.G483_splice|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Splice_Site_p.G483_splice NM_152586 NP_689799 Q70EL1 UBP54_HUMAN Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA. 483 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GTGTTTCTCCTAAAAACACAA 0.398 SEC24C 9632 broad.mit.edu 37 10 75525233 75525234 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:75525232_75525233T>TG uc001juw.3 + 9 1431_1432 c.1251_1252T>TG c.(1249-1254)catgggfs p.H417fs SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Frame_Shift_Ins_p.H275fs|SEC24C_uc001jux.3_Frame_Shift_Ins_p.H417fs|SEC24C_uc010qko.2_Frame_Shift_Ins_p.H298fs|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron NM_004922 NP_940999 P53992 SC24C_HUMAN Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA. 417 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TTGTGGACCATGGGGAATCTGG 0.515 VCL 7414 broad.mit.edu 37 10 75842297 75842297 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:75842296_75842296TC>T uc001jwd.3 + 6 962 c.868_868TC>T c.(868-870)tccfs p.S290fs VCL_uc009xrr.3_Frame_Shift_Del_p.S39fs|VCL_uc010qky.1_Frame_Shift_Del_p.S197fs|VCL_uc001jwe.3_Frame_Shift_Del_p.S290fs|VCL_uc010qkz.2_Intron NM_014000 NP_054706 P18206 VINC_HUMAN Homo sapiens vinculin (VCL), transcript variant 1, mRNA. 290 3 X 112 AA tandem repeats.|N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) CCCTAGTGCCTCCCCAGGTAA 0.448 ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072447 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:81072445_81072446A>AC uc001kaf.2 + 24 3715_3716 c.3143_3144A>AC c.(3142-3144)gacfs p.D1048fs ZMIZ1_uc001kag.2_Frame_Shift_Ins_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Ins_p.D114fs NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 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) TCTTATCTGGACCCCCCCGACC 0.559 C10orf88 80007 broad.mit.edu 37 10 124712362 124712365 + Frame_Shift_Del DEL ACAA ACAA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr10:124712361_124712364TACAA>T uc001lgw.2 - 1 574_577 c.349_352TTGTA>A c.(349-354)tgtactfs p.C117fs C10orf88_uc001lgx.2_Frame_Shift_Del_p.C19fs NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA. 117 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TCCAGGACAGTACAAACATTCTTG 0.392 TRIM22 10346 broad.mit.edu 37 11 5717765 5717765 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:5717764_5717764GA>G uc001mbr.3 + 1 681 c.302_302GA>G c.(301-303)ggafs p.G101fs TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Frame_Shift_Del_p.G101fs|TRIM22_uc010qzm.2_Frame_Shift_Del_p.E7fs|TRIM22_uc009yes.3_Frame_Shift_Del_p.G101fs NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA. 101 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GAGCACCATGGAAAAAAACTC 0.478 RCOR2 283248 broad.mit.edu 37 11 63681910 63681910 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:63681909_63681909GC>G uc001nyc.3 - 5 973 c.585_585GC>C c.(583-585)ggcfs p.G195fs NM_173587 NP_775858 Q8IZ40 RCOR2_HUMAN Homo sapiens REST corepressor 2 (RCOR2), mRNA. 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 TGTCCTTGCGGCCCCCCAGCC 0.602 KLC2 64837 broad.mit.edu 37 11 66033664 66033665 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:66033663_66033664A>AC uc010rov.1 + 13 1945_1946 c.1702_1703A>AC c.(1702-1704)accfs p.T568fs KLC2_uc010row.1_Frame_Shift_Ins_p.T568fs|KLC2_uc001ohb.2_Frame_Shift_Ins_p.T568fs|KLC2_uc010rox.1_Frame_Shift_Ins_p.T491fs|KLC2_uc001ohc.2_Frame_Shift_Ins_p.T568fs|KLC2_uc001ohd.2_Frame_Shift_Ins_p.T491fs|KLC2_uc001ohe.1_Frame_Shift_Ins_p.T429fs|RAB1B_uc001ohf.3_5'Flank NM_001134775 NP_073733 Q9H0B6 KLC2_HUMAN Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA. 568 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 GCAGGGGGGCACCCCCCAGGAG 0.649 DYNC2H1 79659 broad.mit.edu 37 11 103349969 103349970 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:103349968_103349969T>TA uc001phn.1 + 89 13076_13077 c.12932_12933T>TA c.(12931-12933)ctafs p.L4311fs DYNC2H1_uc009yxe.1_Frame_Shift_Ins_p.L917fs|DYNC2H1_uc001pho.2_Frame_Shift_Ins_p.L4304fs NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 4304 Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GCTCTATTCCTAAAAAATCAGT 0.391 THYN1 29087 broad.mit.edu 37 11 134118753 134118753 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr11:134118752_134118752AT>A uc001qhf.3 - 6 684 c.582_582AT>T c.(580-582)aatfs p.N194fs THYN1_uc001qhg.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhh.3_Frame_Shift_Del_p.N194fs|THYN1_uc001qhi.3_Intron|THYN1_uc001qhj.3_Intron NM_001037305 NP_954995 Q9P016 THYN1_HUMAN Homo sapiens thymocyte nuclear protein 1 (THYN1), transcript variant 5, mRNA. 194 nucleus endometrium(2)|kidney(1)|lung(3)|pancreas(1) 7 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) AGAGAACCATATTTTTTAAGG 0.463 CD4 920 broad.mit.edu 37 12 6924043 6924044 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:6924042_6924043A>AG uc001qqv.2 + 4 749_750 c.491_492A>AG c.(490-492)cagfs p.Q164fs CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Ins_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA. 164 Ig-like C2-type 1. T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAAAACATACAGGGGGGGAAGA 0.564 MLL2 8085 broad.mit.edu 37 12 49434136 49434136 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:49434135_49434135TG>T uc001rta.4 - 30 7418 c.7418_7418CA>A c.(7417-7419)cagfs p.Q2473fs NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 2473 Pro-rich. 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 TTCAGGGGGCTGGGGTCGGGG 0.657 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) TENC1 23371 broad.mit.edu 37 12 53455663 53455665 + In_Frame_Del DEL AGG AGG - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:53455662_53455664AAGG>A uc001sbp.3 + 21 3647_3649 c.3512_3514AAGG>A c.(3511-3516)caagga>cAga p.G1172del TENC1_uc001sbl.3_In_Frame_Del_p.G1048del|TENC1_uc001sbn.3_In_Frame_Del_p.G1182del|TENC1_uc001sbq.3_In_Frame_Del_p.G570del|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_In_Frame_Del_p.G667del NM_170754 NP_938072 Q63HR2 TENC1_HUMAN Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA. 1172 SH2. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CATTCATTCCAAGGAGCTTATGG 0.606 MBD6 114785 broad.mit.edu 37 12 57919936 57919936 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:57919935_57919935TC>T uc001soj.1 + 5 1408 c.1184_1184TC>T c.(1183-1185)gtcfs p.V395fs MBD6_uc001sok.1_Frame_Shift_Del_p.V262fs|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 395 Pro-rich. chromosome|nucleus DNA binding|chromatin binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCTGCTCCTGTCCCCCAACCC 0.622 MDM2 4193 broad.mit.edu 37 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:69233089_69233089TC>T uc021rad.1 + 9 1107 c.633_633TC>T c.(631-633)aatfs p.N211fs MDM2_uc001sui.3_Frame_Shift_Del_p.N318fs|MDM2_uc009zqx.3_Frame_Shift_Del_p.N263fs|MDM2_uc001sun.4_Frame_Shift_Del_p.N137fs|MDM2_uc009zra.3_Frame_Shift_Del_p.N111fs|MDM2_uc021raf.1_Frame_Shift_Del_p.N2fs|MDM2_uc009zrc.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrd.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zre.3_Frame_Shift_Del_p.N59fs|MDM2_uc001suo.3_Frame_Shift_Del_p.N112fs|MDM2_uc009zrf.3_Frame_Shift_Del_p.N2fs|MDM2_uc009zrg.3_Frame_Shift_Del_p.N34fs|MDM2_uc009zrh.3_Frame_Shift_Del_p.N86fs|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Frame_Shift_Del_p.N282fs|MDM2_uc021rai.1_Frame_Shift_Del_p.N2fs|MDM2_uc021raj.1_Frame_Shift_Del_p.N2fs Q00987 MDM2_HUMAN Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA. 312 ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.|Poly-Ser. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGAAATGAATCCCCCCCTTC 0.428 A """sarcoma, glioma, colorectal, other""" UHRF1BP1L 23074 broad.mit.edu 37 12 100452512 100452513 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:100452511_100452512T>TA uc001tgq.3 - 13 2772_2773 c.2543_2544A>TA c.(2542-2544)gtafs p.V848fs UHRF1BP1L_uc001tgp.3_Frame_Shift_Ins_p.V498fs NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA. 848 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GACTGCCAGTTACAGCTTCTAC 0.411 KDM2B 84678 broad.mit.edu 37 12 121881493 121881496 + Frame_Shift_Del DEL AAGT AAGT - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:121881492_121881495GAAGT>G uc001uat.3 - 16 2657_2660 c.2553_2556ACTTC>C c.(2551-2556)tacttcfs p.Y851fs KDM2B_uc010szy.2_Frame_Shift_Del_p.Y291fs|KDM2B_uc001uaq.3_Frame_Shift_Del_p.Y291fs|KDM2B_uc001uar.3_Frame_Shift_Del_p.Y442fs|KDM2B_uc001uas.3_Intron|KDM2B_uc021rfd.1_Intron|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Frame_Shift_Del_p.Y851fs|KDM2B_uc001uao.3_Frame_Shift_Del_p.Y99fs|KDM2B_uc010szx.2_Frame_Shift_Del_p.Y99fs|KDM2B_uc001uap.3_Non-coding_Transcript NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 851 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCTGCTGCTGGAAGTAAGTGAGAC 0.681 OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMEM132B 114795 broad.mit.edu 37 12 126138565 126138565 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr12:126138564_126138564AC>A uc001uhe.1 + 8 2553 c.2545_2545AC>A c.(2545-2547)accfs p.T849fs TMEM132B_uc001uhf.1_Frame_Shift_Del_p.T361fs NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 849 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAAAAGCACAACCCCCCAGTC 0.517 RNF17 56163 broad.mit.edu 37 13 25378458 25378459 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:25378457_25378458G>GA uc001upr.3 + 14 2022_2023 c.1981_1982G>GA c.(1981-1983)gaafs p.E661fs RNF17_uc010tdd.1_Frame_Shift_Ins_p.E520fs|RNF17_uc010tde.2_Frame_Shift_Ins_p.E661fs|RNF17_uc010aab.3_Intron|RNF17_uc001ups.3_Frame_Shift_Ins_p.E600fs NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 661 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 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) AAGTCACTTTGAAAAAAATACT 0.376 TPP2 7174 broad.mit.edu 37 13 103266508 103266509 + Frame_Shift_Del DEL TA TA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr13:103266507_103266508CTA>C uc001vpi.4 + 2 454_455 c.351_352CTA>C c.(349-354)ggctatfs p.G117fs NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 117 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAAAAAATGGCTATGACTTCTA 0.366 OR4K5 79317 broad.mit.edu 37 14 20389294 20389294 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:20389293_20389293CT>C uc010tkw.2 + 0 528 c.528_528CT>C c.(526-528)agcfs p.S176fs NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAGTAGACAGCTTTTTTTGTG 0.418 MYH7 4625 broad.mit.edu 37 14 23896463 23896464 + Frame_Shift_Del DEL AC AC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:23896462_23896463GAC>G uc001wjx.3 - 16 2048_2049 c.1942_1943GTC>C c.(1942-1944)tcafs p.S648fs NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 648 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GTGCAGAGCTGACACAGTCTGA 0.574 G2E3 55632 broad.mit.edu 37 14 31071299 31071302 + Frame_Shift_Del DEL CAGA CAGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:31071298_31071301CCAGA>C uc001wqk.2 + 9 1125_1128 c.971_974CCAGA>C c.(970-975)cccagafs p.P324fs G2E3_uc010tpe.1_Frame_Shift_Del_p.P239fs|G2E3_uc010tpf.1_Frame_Shift_Del_p.P278fs NM_017769 NP_060239 Q7L622 G2E3_HUMAN Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA. 324 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding p.R325K(2) endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 CCTAAATTACCCAGACAGTCACCT 0.348 NID2 22795 broad.mit.edu 37 14 52481919 52481919 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:52481918_52481918CG>C uc001wzo.3 - 14 3338 c.3104_3104CG>G c.(3103-3105)cggfs p.R1035fs NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs NM_007361 NP_031387 Q14112 NID2_HUMAN Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA. 1035 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CTGGTCATCCCGGGGGGTGCC 0.627 SYNE2 23224 broad.mit.edu 37 14 64450478 64450479 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:64450477_64450478T>TA uc001xgl.3 + 17 2254_2255 c.2024_2025T>TA c.(2023-2025)atafs p.I675fs SYNE2_uc001xgm.3_Frame_Shift_Ins_p.I675fs|SYNE2_uc021ruh.1_Frame_Shift_Ins_p.I675fs NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 675 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCACTGATGATAAAAAAACAGG 0.297 EVL 51466 broad.mit.edu 37 14 100594927 100594928 + Frame_Shift_Ins INS - - C rs150744633 TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr14:100594926_100594927G>GC uc001ygu.3 + 5 645_646 c.558_559G>GC c.(556-561)ccgcccfs p.P186fs EVL_uc001ygt.3_Frame_Shift_Ins_p.P184fs|EVL_uc001ygv.2_Frame_Shift_Ins_p.P190fs NM_016337 NP_057421 Q9UI08 EVL_HUMAN Homo sapiens Enah/Vasp-like (EVL), mRNA. 184 Pro-rich. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium SH3 domain binding|actin binding|profilin binding p.P189fs*41(1) cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) GGcctccaccgccccccccacc 0.688 MGA 23269 broad.mit.edu 37 15 42034971 42034971 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr15:42034970_42034970GT>G uc010ucy.2 + 14 4993 c.4812_4812GT>G c.(4810-4812)gtgfs p.V1604fs MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Frame_Shift_Del_p.V220fs NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 1604 Thr-rich. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CCCCTCAAGTGTTTTTAGAAA 0.473 BFAR 51283 broad.mit.edu 37 16 14749041 14749042 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:14749040_14749041G>GC uc002dco.3 + 4 1037_1038 c.756_757G>GC c.(754-759)aagcccfs p.K252fs BFAR_uc010uzh.2_Frame_Shift_Ins_p.K124fs NM_016561 NP_057645 Q9NZS9 BFAR_HUMAN Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA. 252 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding p.Q255fs*7(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 TAGGCGTGAAGCCCCCCCAGAA 0.361 CTCF 10664 broad.mit.edu 37 16 67671655 67671656 + Frame_Shift_Ins INS - - A TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:67671654_67671655T>TA uc002etl.3 + 11 2507_2508 c.2063_2064T>TA c.(2062-2064)gtafs p.V688fs CTCF_uc010cek.3_Frame_Shift_Ins_p.V360fs|CTCF_uc002etm.1_Frame_Shift_Ins_p.V175fs NM_006565 NP_001177951 P49711 CTCF_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA. 688 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) ATAGTTGAAGTAAAAAAAGAGC 0.510 KIAA0182 23199 broad.mit.edu 37 16 85682290 85682291 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr16:85682289_85682290A>AC uc002fix.3 + 2 432_433 c.358_359A>AC c.(358-360)accfs p.T120fs KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs NM_014615 NP_055430 Q14687 GSE1_HUMAN Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA. 120 protein binding p.V123fs*2(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 35 CGTGCCCAGCACCCCCCCCGTG 0.688 DHX58 79132 broad.mit.edu 37 17 40263776 40263777 + Frame_Shift_Del DEL CA CA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:40263775_40263776CCA>C uc002hyw.3 - 2 358_359 c.135_136TGG>G c.(133-138)gtggatfs p.V45fs DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Frame_Shift_Del_p.V45fs NM_024119 NP_077024 Q96C10 DHX58_HUMAN Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA. 45 Helicase ATP-binding. innate immune response cytoplasm ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TTGGCTCCATCCACAGTCTCTA 0.604 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 DNAH17 8632 broad.mit.edu 37 17 76425217 76425217 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:76425216_76425216TG>T uc010dhp.2 - 75 12516 c.12391_12391CA>A c.(12391-12393)aacfs p.N4131fs DNAH17_uc002jvq.3_Frame_Shift_Del_p.N416fs|DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TAGTCCAGGTTGGGGGGGATC 0.582 ENGASE 64772 broad.mit.edu 37 17 77081777 77081779 + In_Frame_Del DEL GGA GGA - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:77081776_77081778GGGA>G uc002jwv.3 + 12 1783_1785 c.1775_1777GGGA>G c.(1774-1779)cgggag>cGag p.E595del ENGASE_uc002jww.3_In_Frame_Del_p.E300del NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 595 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CCGGGTAGTCGGGAGGAGGAGAG 0.640 HEXDC 284004 broad.mit.edu 37 17 80400298 80400299 + Frame_Shift_Ins INS - - G TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr17:80400297_80400298T>TG uc002kev.4 + 11 2003_2004 c.1587_1588T>TG c.(1585-1590)gctgggfs p.A529fs HEXDC_uc002kew.3_3'UTR|HEXDC_uc010wvm.2_Non-coding_Transcript NM_173620 NP_775891 Q8WVB3 HEXDC_HUMAN Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA. 89 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TGCTGGAGGCTGGGGGGGCTCT 0.693 RIOK3 8780 broad.mit.edu 37 18 21044503 21044503 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:21044502_21044502TA>T uc002kui.4 + 4 1070 c.453_453TA>T c.(451-453)cctfs p.P151fs RIOK3_uc010dls.3_Frame_Shift_Del_p.P151fs|RIOK3_uc010xas.2_Frame_Shift_Del_p.P135fs|RIOK3_uc010xat.2_5'Flank NM_003831 NP_003822 O14730 RIOK3_HUMAN Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA. 151 chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) TTCCCACTCCTAAAAAGGGCT 0.363 LMAN1 3998 broad.mit.edu 37 18 57013285 57013286 + Splice_Site INS - - T TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr18:57013284_57013285C>CT uc002lhz.3 - 8 855 c.823_splice c.e8-1 p.P275_splice NM_005570 NP_005561 P49257 LMAN1_HUMAN Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA. 275 ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) CTGGTGTGGGCTTTTTTTTGGA 0.297 SIN3B 23309 broad.mit.edu 37 19 16980691 16980691 + Frame_Shift_Del DEL T T - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:16980690_16980690AT>A uc002ney.2 + 13 2345 c.2322_2322AT>A c.(2320-2322)ctafs p.L774fs SIN3B_uc002nez.2_Frame_Shift_Del_p.L742fs|SIN3B_uc010xpi.1_Frame_Shift_Del_p.L332fs NM_015260 NP_056075 O75182 SIN3B_HUMAN Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA. 774 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 TCTACAGCCTATTTTTTGCCA 0.637 MYO9B 4650 broad.mit.edu 37 19 17322818 17322818 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:17322817_17322817AC>A uc010eak.3 + 39 6324 c.6172_6172AC>A c.(6172-6174)accfs p.T2058fs MYO9B_uc002nfi.3_3'UTR|MYO9B_uc002nfm.1_3'UTR NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 2058 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CAGAGTGAAGACCCCCCGGCG 0.736 USF2 7392 broad.mit.edu 37 19 35761684 35761685 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:35761683_35761684G>GC uc010xss.1 + 5 752_753 c.643_644G>GC c.(643-645)gccfs p.A215fs USF2_uc002nyq.1_Frame_Shift_Ins_p.A215fs|USF2_uc002nyr.1_Frame_Shift_Ins_p.A148fs|USF2_uc002nyt.1_Frame_Shift_Ins_p.A84fs|USF2_uc002nyv.1_Frame_Shift_Ins_p.A17fs Q15853 USF2_HUMAN Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA. 215 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.A215S(2) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1) 13 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GAGGACGATCGCCCCCCGGACA 0.594 GMFG 9535 broad.mit.edu 37 19 39823749 39823751 + In_Frame_Del DEL CTC CTC - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:39823748_39823750GCTC>G uc002okz.4 - 3 277_279 c.167_169GAGC>C c.(166-171)gagctc>gCtc p.56_57EL>A GMFG_uc002okx.4_In_Frame_Del_p.56_57EL>A NM_004877 NP_004868 O60234 GMFG_HUMAN Homo sapiens glia maturation factor, gamma (GMFG), mRNA. 56 ADF-H. protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1) 10 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TCCATTTTGAGCTCCTCTGGGGA 0.537 LILRA4 23547 broad.mit.edu 37 19 54844919 54844919 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr19:54844918_54844918TG>T uc002qfj.3 - 7 1482 c.1425_1425CA>A c.(1423-1425)ccafs p.P475fs LILRA4_uc002qfi.3_Frame_Shift_Del_p.P409fs NM_012276 NP_036408 P59901 LIRA4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA. 475 integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GGCTGCACCTTGGGGGGCTTC 0.547 C20orf160 140706 broad.mit.edu 37 20 30602812 30602812 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:30602811_30602811TC>T uc002wxf.2 + 1 148 c.135_135TC>T c.(133-135)tatfs p.Y45fs NM_080625 NP_542192 Q9NUG4 CT160_HUMAN Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA. 45 central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 23 TGCCCCTTTATCCCCCCGACT 0.627 TSHZ2 128553 broad.mit.edu 37 20 51872445 51872446 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr20:51872444_51872445T>TC uc002xwo.3 + 1 3334_3335 c.2447_2448T>TC c.(2446-2448)gtcfs p.V816fs TSHZ2_uc021wex.1_Frame_Shift_Ins_p.V813fs NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 816 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCCTCCAGGGTCCCCCCCATGA 0.550 ATF4 468 broad.mit.edu 37 22 39917951 39917952 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:39917950_39917951G>GC uc003axz.3 + 2 679_680 c.399_400G>GC c.(397-402)cagcccfs p.Q133fs ATF4_uc011aol.1_Frame_Shift_Ins_p.Q45fs|ATF4_uc003aya.3_Frame_Shift_Ins_p.Q133fs|ATF4_uc021wpz.1_5'Flank NM_182810 NP_877962 P18848 ATF4_HUMAN Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA. 133 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) CTAATAAGCAGCCCCCCCAGAC 0.525 SREBF2 6721 broad.mit.edu 37 22 42289201 42289201 + Frame_Shift_Del DEL C C - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chr22:42289200_42289200AC>A uc003bbi.3 + 11 2457 c.2288_2288AC>A c.(2287-2289)cacfs p.H763fs bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 763 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TGGCTCTGCCACCCCCTGGGC 0.597 MSL3 10943 broad.mit.edu 37 X 11790307 11790308 + Frame_Shift_Ins INS - - C TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:11790306_11790307A>AC uc004cuw.3 + 10 1418_1419 c.1313_1314A>AC c.(1312-1314)tacfs p.Y438fs MSL3_uc011mig.2_Frame_Shift_Ins_p.Y289fs|MSL3_uc011mih.2_Frame_Shift_Ins_p.Y426fs|MSL3_uc004cuy.3_Frame_Shift_Ins_p.Y272fs NM_078629 NP_006791 Q8N5Y2 MS3L1_HUMAN Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA. 438 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 CCTGACAATTACCCCCCAGGTG 0.455 BCOR 54880 broad.mit.edu 37 X 39937164 39937164 + Frame_Shift_Del DEL G G - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:39937163_39937163AG>A uc004den.4 - 1 312 c.20_20CT>T c.(19-21)ctgfs p.L7fs BCOR_uc004dep.4_Frame_Shift_Del_p.L7fs|BCOR_uc004deo.4_Frame_Shift_Del_p.L7fs|BCOR_uc004dem.4_Frame_Shift_Del_p.L7fs|BCOR_uc004deq.4_Frame_Shift_Del_p.L7fs NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 7 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GTTCCCATACAGGGGGGTTGC 0.542 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic COL4A6 1288 broad.mit.edu 37 X 107462975 107462975 + Splice_Site DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:107462974_107462974TA>T uc004enw.4 - 5 386 c.283_splice c.e5-1 p.G95_splice COL4A6_uc004env.4_Splice_Site_p.G94_splice|COL4A6_uc011msn.2_Splice_Site_p.G94_splice|COL4A6_uc010npk.3_Splice_Site_p.G94_splice NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 95 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CATGGGACCCTAAAAAAAGGA 0.423 Alport syndrome with Diffuse Leiomyomatosis F9 2158 broad.mit.edu 37 X 138643719 138643719 + Frame_Shift_Del DEL A A - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:138643718_138643718CA>C uc004fas.1 + 7 903 c.874_874CA>C c.(874-876)caafs p.Q292fs F9_uc004fat.1_Frame_Shift_Del_p.Q254fs NM_000133 NP_000124 P00740 FA9_HUMAN Homo sapiens coagulation factor IX (F9), mRNA. 292 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) ACATACAGAGCAAAAGCGAAA 0.343 PRRG3 79057 broad.mit.edu 37 X 150868590 150868592 + In_Frame_Del DEL GAG GAG - TCGA-HJ-7597-01A-21D-2201-08 TCGA-HJ-7597-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d4ee062d-fdb6-4be6-8b39-9bf71779e3a0 bb03ccca-057f-49ae-8ca9-2aad7a5082b1 g.chrX:150868589_150868591CGAG>C uc022cgt.1 + 2 178_180 c.129_131CGAG>C c.(127-132)tacgag>taCg p.E45del PRRG3_uc004few.2_In_Frame_Del_p.E45del NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA. 45 Gla. extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) TCTGCAGCTACGAGGAGGTCAAG 0.557