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 CPSF3L 54973 broad.mit.edu 37 1 1248900 1248900 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:1248900C>T uc001aee.1 - 10 1088 c.1030G>A c.(1030-1032)GAA>AAA p.E344K CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.E350K|CPSF3L_uc009vjz.1_Missense_Mutation_p.E322K|CPSF3L_uc010nyj.1_Missense_Mutation_p.E315K|CPSF3L_uc001aeg.1_Missense_Mutation_p.E220K|CPSF3L_uc001aeh.1_Missense_Mutation_p.E243K|CPSF3L_uc001aei.1_Missense_Mutation_p.E246K|CPSF3L_uc001aej.1_Missense_Mutation_p.E171K|CPSF3L_uc001aek.1_Missense_Mutation_p.E86K NM_017871 NP_060341 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 344 Golgi apparatus|nucleus hydrolase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) ATGTTCTTTTCGTTTCCGGCC 0.592000 AURKAIP1 54998 broad.mit.edu 37 1 1309707 1309707 + Silent SNP C C T rs148649999 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:1309707C>T uc001afb.1 - 2 281 c.171G>A c.(169-171)CAG>CAA p.Q57Q AURKAIP1_uc001afc.2_Silent_p.Q57Q|AURKAIP1_uc001afd.2_Silent_p.Q57Q|AURKAIP1_uc009vkb.1_Silent_p.Q57Q NM_017900 NP_060370 Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 57 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCAGCTCCAGCTGGGCCCCCT 0.697000 PRDM16 63976 broad.mit.edu 37 1 3328286 3328286 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:3328286G>A uc001akf.2 + 9 1605 c.1525G>A c.(1525-1527)GCA>ACA p.A509T PRDM16_uc001akc.2_Missense_Mutation_p.A509T|PRDM16_uc001akd.2_Missense_Mutation_p.A509T|PRDM16_uc001ake.2_Missense_Mutation_p.A509T|PRDM16_uc009vlh.2_Missense_Mutation_p.A210T NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 509 Pro-rich. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CACGTTCCCCGCACTCACCCC 0.677000 T EVI1 MDS|AML ARHGEF16 27237 broad.mit.edu 37 1 3386085 3386085 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:3386085G>A uc001akg.3 + 6 1198 c.950G>A c.(949-951)CGG>CAG p.R317Q ARHGEF16_uc001aki.2_Missense_Mutation_p.R29Q|ARHGEF16_uc001akj.2_Missense_Mutation_p.R29Q|ARHGEF16_uc009vli.1_5'Flank|ARHGEF16_uc010nzh.1_5'Flank NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 317 DH.|Required for RHOG activation and mediates interaction with EPHA2. 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) AAGGAGCTGCGGGCGACCGTG 0.612000 CCDC27 148870 broad.mit.edu 37 1 3669276 3669276 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:3669276C>T uc001akv.2 + 1 312 c.231C>T c.(229-231)GAC>GAT p.D77D NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 77 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CCAGCCGGGACGCCCGGTGCC 0.622000 CAMTA1 23261 broad.mit.edu 37 1 7797322 7797322 + Missense_Mutation SNP C C T rs149702154 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:7797322C>T uc001aoi.2 + 15 3557 c.3350C>T c.(3349-3351)GCG>GTG p.A1117V CAMTA1_uc010nzv.1_Missense_Mutation_p.A204V|CAMTA1_uc001aok.3_Missense_Mutation_p.A160V|CAMTA1_uc001aoj.2_Missense_Mutation_p.A73V NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1117 ANK 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TAGATGTGGGCGTGTGCCCTA 0.547000 UBE4B 10277 broad.mit.edu 37 1 10190583 10190583 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:10190583C>T uc001aqs.3 + 13 2434 c.1721C>T c.(1720-1722)CCG>CTG p.P574L UBE4B_uc001aqr.3_Missense_Mutation_p.P445L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.P29L|UBE4B_uc001aqt.1_5'Flank NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 574 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TTGTGGTTGCCGAAATCCTTA 0.488000 CASZ1 54897 broad.mit.edu 37 1 10725240 10725240 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:10725240G>A uc001aro.2 - 5 725 c.405C>T c.(403-405)CAC>CAT p.H135H CASZ1_uc001arp.1_Silent_p.H135H|CASZ1_uc009vmx.2_Silent_p.H159H NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCTCCTCCGCGTGGTCTTCCT 0.692000 MIIP 60672 broad.mit.edu 37 1 12091856 12091856 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:12091856G>A uc001ato.1 + 10 1338 c.1158G>A c.(1156-1158)CAG>CAA p.Q386Q NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN invasion inhibitory protein 45 386 ovary(1) 1 TCCCACGGCAGAAGCCCTGAG 0.677000 SPEN 23013 broad.mit.edu 37 1 16263675 16263675 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:16263675T>C uc001axk.1 + 12 10248 c.10044T>C c.(10042-10044)GGT>GGC p.G3348G SPEN_uc010obp.1_Silent_p.G3307G NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3348 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTCCTGAAGGTGAGCCCCTGC 0.642000 CLCNKA 1187 broad.mit.edu 37 1 16358730 16358730 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:16358730G>A uc001axu.2 + 17 1869 c.1789G>A c.(1789-1791)GCC>ACC p.A597T CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A597T|CLCNKA_uc010obw.1_Missense_Mutation_p.A554T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_3'UTR NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 597 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CGTGCAGAGGGCCCAGCTGGT 0.642000 CROCC 9696 broad.mit.edu 37 1 17272894 17272894 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:17272894C>T uc001azt.2 + 16 2346 c.2277C>T c.(2275-2277)GTC>GTT p.V759V CROCC_uc009voz.1_Silent_p.V522V|CROCC_uc001azu.2_Silent_p.V62V NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 759 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) ACCGCCTTGTCGCCCAGGTAC 0.597000 PADI3 51702 broad.mit.edu 37 1 17597402 17597402 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:17597402A>G uc001bai.2 + 8 900 c.860A>G c.(859-861)GAC>GGC p.D287G NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 287 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) ATCTTCACTGACACTGTGGTG 0.453000 UBR4 23352 broad.mit.edu 37 1 19441312 19441312 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:19441312C>T uc001bbi.2 - 75 11199 c.11195G>A c.(11194-11196)CGG>CAG p.R3732Q UBR4_uc001bbj.1_Missense_Mutation_p.R147Q NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3732 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CACCTTCTTCCGGTCTTCTTC 0.527000 ALPL 249 broad.mit.edu 37 1 21903914 21903914 + Missense_Mutation SNP C C T rs138690664 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:21903914C>T uc001bet.2 + 12 1605 c.1348C>T c.(1348-1350)CGC>TGC p.R450C ALPL_uc010odn.1_Missense_Mutation_p.R398C|ALPL_uc010odo.1_Missense_Mutation_p.R395C|ALPL_uc010odp.1_Missense_Mutation_p.R373C|ALPL_uc001beu.3_Missense_Mutation_p.R450C NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 450 R -> H (in HOPS).|R -> C (in HOPS; severe; 4% of activity). response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) TGTGCCCCTGCGCCACGAGAC 0.687000 SFRS4 6429 broad.mit.edu 37 1 29475301 29475301 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:29475301C>T uc001bro.2 - 6 1479 c.1106G>A c.(1105-1107)CGC>CAC p.R369H SFRS4_uc010ofy.1_3'UTR NM_005626 NP_005617 Q08170 SRSF4_HUMAN splicing factor, arginine/serine-rich 4 369 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) gctgcggctgcgactgcgact 0.090000 EPHA10 284656 broad.mit.edu 37 1 38227513 38227513 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:38227513G>A uc009vvi.2 - 3 500 c.414C>T c.(412-414)GGC>GGT p.G138G EPHA10_uc001cbw.3_Silent_p.G138G NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 138 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GACGCCCACGGCCCAGGTCGG 0.657000 ZNF684 127396 broad.mit.edu 37 1 41012975 41012975 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:41012975A>G uc001cft.1 + 5 1231 c.980A>G c.(979-981)TAC>TGC p.Y327C NM_152373 NP_689586 Q5T5D7 ZN684_HUMAN zinc finger protein 684 327 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) GAGAAACCTTACAGTTGTATT 0.423000 HIVEP3 59269 broad.mit.edu 37 1 42049392 42049392 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:42049392C>T uc001cgz.3 - 4 2290 c.1077G>A c.(1075-1077)ACG>ACA p.T359T HIVEP3_uc001cha.3_Silent_p.T359T|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 359 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TCTGCTTAATCGTGTGGGTGT 0.567000 CDC20 991 broad.mit.edu 37 1 43825904 43825904 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:43825904C>T uc001cix.2 + 6 698 c.597C>T c.(595-597)GCC>GCT p.A199A CDC20_uc001ciy.2_Silent_p.A199A NM_001255 NP_001246 Q12834 CDC20_HUMAN cell division cycle 20 199 WD 1. activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATGTACTGGCCGTGGCACTGG 0.522000 ZSWIM5 57643 broad.mit.edu 37 1 45501386 45501386 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:45501386G>T uc001cnd.2 - 10 2493 c.2265C>A c.(2263-2265)TCC>TCA p.S755S NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 755 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) CTAATTTATAGGACAGGTCTG 0.488000 LRRC41 10489 broad.mit.edu 37 1 46745250 46745250 + Missense_Mutation SNP C C T rs28363251 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:46745250C>T uc001cpn.2 - 8 2101 c.2057G>A c.(2056-2058)CGC>CAC p.R686H LRRC41_uc010omb.1_Missense_Mutation_p.R686H NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 686 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) TTGGGCTGGGCGCTTCTCAAA 0.557000 RAB3B 5865 broad.mit.edu 37 1 52403066 52403066 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:52403066G>A uc001cth.2 - 3 372 c.247C>T c.(247-249)CGG>TGG p.R83W NM_002867 NP_002858 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 83 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1) 1 GTCCGGTACCGCTCCTGCCCA 0.468000 LDLRAD1 388633 broad.mit.edu 37 1 54476062 54476062 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:54476062G>A uc001cwm.1 - 5 380 c.362C>T c.(361-363)CCC>CTC p.P121L LDLRAD1_uc010onz.1_Missense_Mutation_p.P68S|LDLRAD1_uc010ooa.1_Missense_Mutation_p.P78L|LDLRAD1_uc009vzn.1_RNA NM_001010978 NP_001010978 Q5T700 LRAD1_HUMAN low density lipoprotein receptor class A domain 121 LDL-receptor class A 2; atypical. integral to membrane receptor activity skin(2)|large_intestine(1) 3 AAGGAAGTGGGGGAGGCTCTG 0.562000 DHCR24 1718 broad.mit.edu 37 1 55337163 55337163 + Missense_Mutation SNP G G A rs150166147 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:55337163G>A uc001cyc.1 - 5 865 c.736C>T c.(736-738)CGG>TGG p.R246W DHCR24_uc010ooj.1_Missense_Mutation_p.R108W|DHCR24_uc010ook.1_Missense_Mutation_p.R205W NM_014762 NP_055577 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase precursor 246 anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding pancreas(1) 1 TCCAGGCCCCGCACTGGCTCG 0.612000 PTGER3 5733 broad.mit.edu 37 1 71512689 71512689 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:71512689A>T uc001dfg.1 - 1 803 c.572T>A c.(571-573)CTG>CAG p.L191Q PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.L191Q|PTGER3_uc001dfl.1_Missense_Mutation_p.L191Q|PTGER3_uc009wbm.1_Missense_Mutation_p.L191Q|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.L191Q|PTGER3_uc009wbn.1_Missense_Mutation_p.L191Q|PTGER3_uc009wbo.2_Missense_Mutation_p.L191Q|PTGER3_uc001dfo.2_Missense_Mutation_p.L191Q|PTGER3_uc001dfp.1_Missense_Mutation_p.L191Q|PTGER3_uc001dfq.2_Missense_Mutation_p.L191Q|uc001dfr.2_RNA NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 191 Helical; Name=4; (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) CAGCACCGGCAGCAGGGCGAA 0.692000 PTGER3 5733 broad.mit.edu 37 1 71512701 71512701 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:71512701G>T uc001dfg.1 - 1 791 c.560C>A c.(559-561)GCC>GAC p.A187D PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.A187D|PTGER3_uc001dfl.1_Missense_Mutation_p.A187D|PTGER3_uc009wbm.1_Missense_Mutation_p.A187D|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.A187D|PTGER3_uc009wbn.1_Missense_Mutation_p.A187D|PTGER3_uc009wbo.2_Missense_Mutation_p.A187D|PTGER3_uc001dfo.2_Missense_Mutation_p.A187D|PTGER3_uc001dfp.1_Missense_Mutation_p.A187D|PTGER3_uc001dfq.2_Missense_Mutation_p.A187D|uc001dfr.2_RNA NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 187 Helical; Name=4; (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) CAGGGCGAAGGCGAGCACGGC 0.716000 WDR63 126820 broad.mit.edu 37 1 85592282 85592282 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:85592282G>A uc001dkt.2 + 20 2392 c.2201G>A c.(2200-2202)GGC>GAC p.G734D WDR63_uc009wcl.2_Missense_Mutation_p.G695D NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 734 WD 4. upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) TTCTACATCGGCCGAGAAGAT 0.473000 GBP1 2633 broad.mit.edu 37 1 89528741 89528741 + Silent SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:89528741A>T uc001dmx.2 - 2 397 c.177T>A c.(175-177)GCT>GCA p.A59A NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 59 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TTTTCTTTCCAGCCAGCTTGT 0.498000 NTNG1 22854 broad.mit.edu 37 1 107691423 107691423 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:107691423A>G uc001dvh.3 + 2 926 c.208A>G c.(208-210)ATT>GTT p.I70V NTNG1_uc001dvf.3_Missense_Mutation_p.I70V|NTNG1_uc010out.1_Missense_Mutation_p.I70V|NTNG1_uc001dvc.3_Missense_Mutation_p.I70V|NTNG1_uc001dvd.1_Missense_Mutation_p.I70V NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 70 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TCCTCCGGATATTACCTGTGG 0.433000 SARS 6301 broad.mit.edu 37 1 109772189 109772189 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:109772189G>A uc001dwu.1 + 4 517 c.442G>A c.(442-444)GAT>AAT p.D148N SARS_uc001dwt.1_Missense_Mutation_p.D148N|SARS_uc001dwv.1_Missense_Mutation_p.D148N|SARS_uc001dww.1_Missense_Mutation_p.D81N|SARS_uc001dwx.1_Missense_Mutation_p.D148N|SARS_uc009wfa.1_Missense_Mutation_p.D148N|SARS_uc001dwy.1_5'UTR|SARS_uc001dwz.1_5'UTR NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 148 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) CATCAGTAACGATGAGGTAGG 0.582000 SYPL2 284612 broad.mit.edu 37 1 110020512 110020512 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:110020512G>A uc001dxp.2 + 5 895 c.529G>A c.(529-531)GAT>AAT p.D177N SYPL2_uc001dxo.2_Missense_Mutation_p.D177N|SYPL2_uc010ovk.1_Intron|SYPL2_uc001dxq.2_Missense_Mutation_p.D85N NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN mitsugumin 29 177 Vesicular (Potential).|MARVEL. integral to membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) GGGCCTGACCGATGTCAAGGG 0.607000 ATXN7L2 127002 broad.mit.edu 37 1 110029769 110029769 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:110029769A>G uc001dxr.2 + 4 454 c.439A>G c.(439-441)AGG>GGG p.R147G ATXN7L2_uc001dxs.2_5'Flank NM_153340 NP_699171 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 147 ovary(2) 2 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AACCTCCTCCAGGGAGAAGGG 0.612000 OLFML3 56944 broad.mit.edu 37 1 114522210 114522210 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:114522210C>G uc001eer.1 + 1 181 c.72C>G c.(70-72)CAC>CAG p.H24Q OLFML3_uc001ees.1_5'UTR|OLFML3_uc001eet.1_5'UTR NM_020190 NP_064575 Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 precursor 24 multicellular organismal development extracellular region 0 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) GACAGCAGCACCACCTTGTGG 0.572000 OREG0013687 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BCAS2 10286 broad.mit.edu 37 1 115123933 115123933 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:115123933T>C uc001efa.2 - 2 226 c.173A>G c.(172-174)TAT>TGT p.Y58C DENND2C_uc001eez.2_RNA NM_005872 NP_005863 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 58 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding large_intestine(1) 1 all_epithelial(7;9.54e-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) AAAGGCAGAATAATCCGGGGC 0.453000 HAO2 51179 broad.mit.edu 37 1 119925576 119925576 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:119925576A>C uc001ehq.1 + 4 522 c.170A>C c.(169-171)GAG>GCG p.E57A HAO2_uc001ehr.1_Missense_Mutation_p.E57A NM_001005783 NP_001005783 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 57 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity ovary(2)|skin(2) 4 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GATGTGTCTGAGGTGGACACC 0.547000 PDE4DIP 9659 broad.mit.edu 37 1 144912234 144912234 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:144912234G>A uc001elw.3 - 15 2332 c.2041C>T c.(2041-2043)CGC>TGC p.R681C NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R747C|PDE4DIP_uc001emc.1_Missense_Mutation_p.R681C|PDE4DIP_uc001emd.1_Missense_Mutation_p.R681C|PDE4DIP_uc001emb.1_Missense_Mutation_p.R844C|PDE4DIP_uc001eme.1_Missense_Mutation_p.R210C|PDE4DIP_uc001emf.1_Missense_Mutation_p.R466C NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 681 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AAATATTGGCGCAGGGCCTGT 0.443000 T PDGFRB MPD PIAS3 10401 broad.mit.edu 37 1 145578250 145578250 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:145578250G>A uc001eoc.1 + 2 304 c.213G>A c.(211-213)GGG>GGA p.G71G NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Silent_p.G62G|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 71 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) AGACCCTGGGGCCCTCTGATC 0.607000 CGN 57530 broad.mit.edu 37 1 151498178 151498178 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:151498178A>C uc009wmw.2 + 9 1819 c.1675A>C c.(1675-1677)AGG>CGG p.R559R NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 553 Glu-rich.|Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGGGCTGCAGAGGGAGCTGGA 0.562000 HRNR 388697 broad.mit.edu 37 1 152191477 152191477 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:152191477G>A uc001ezt.1 - 3 2704 c.2628C>T c.(2626-2628)CAC>CAT p.H876H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 876 10. 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) GGCCCGAAGCGTGATGGGAGG 0.612000 FLG 2312 broad.mit.edu 37 1 152276878 152276878 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:152276878G>A uc001ezu.1 - 3 10520 c.10484C>T c.(10483-10485)TCA>TTA p.S3495L NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3495 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCATCTCCTGATTGTTCGTC 0.577000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152280586 152280586 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:152280586C>T uc001ezu.1 - 3 6812 c.6776G>A c.(6775-6777)CGG>CAG p.R2259Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2259 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCCAGACCGCCTCTCAGA 0.587000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152282533 152282533 + Missense_Mutation SNP C C T rs148200894 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:152282533C>T uc001ezu.1 - 3 4865 c.4829G>A c.(4828-4830)CGG>CAG p.R1610Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1610 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGACTCAGACCGCCTCTCAGA 0.567000 Ichthyosis LCE1D 353134 broad.mit.edu 37 1 152770396 152770396 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:152770396C>A uc009wnp.2 + 2 169 c.126C>A c.(124-126)GTC>GTA p.V42V NM_178352 NP_848129 Q5T752 LCE1D_HUMAN late cornified envelope 1D 42 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGCAGTGTCAGCTCCGGAG 0.562000 NUP210L 91181 broad.mit.edu 37 1 154030659 154030659 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:154030659T>G uc001fdw.2 - 22 3085 c.3013A>C c.(3013-3015)AGG>CGG p.R1005R NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Silent_p.R1005R NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1005 R -> K (in Ref. 1; BAC87279). integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CCAAGAACCCTCACAGTCACT 0.398000 ZBTB7B 51043 broad.mit.edu 37 1 154988174 154988174 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:154988174G>A uc001fgk.3 + 3 1196 c.1038G>A c.(1036-1038)CAG>CAA p.Q346Q ZBTB7B_uc009wpa.2_Silent_p.Q346Q|ZBTB7B_uc001fgj.3_Silent_p.Q380Q|ZBTB7B_uc010peq.1_Silent_p.Q380Q|ZBTB7B_uc001fgl.3_Silent_p.Q346Q NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 346 C2H2-type 1. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGATGCCTCAGGAGTGCCCTG 0.622000 MEX3A 92312 broad.mit.edu 37 1 156046750 156046750 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:156046750G>A uc001fnd.3 - 2 1178 c.1178C>T c.(1177-1179)GCG>GTG p.A393V NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 393 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) CTCCTGGCCCGCCCACAGCGG 0.597000 INSRR 3645 broad.mit.edu 37 1 156811544 156811544 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:156811544C>T uc010pht.1 - 20 3694 c.3440G>A c.(3439-3441)CGC>CAC p.R1147H NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 1147 Cytoplasmic (Potential).|Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCACCCTTGCGGTAATAGTC 0.612000 FCRL1 115350 broad.mit.edu 37 1 157765955 157765955 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:157765955G>T uc001frg.2 - 11 1337 c.1224C>A c.(1222-1224)TCC>TCA p.S408S FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.S407S|FCRL1_uc001fri.2_Missense_Mutation_p.P366H|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 408 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGATGTCTAAGGAAACCTGGA 0.448000 CD1A 909 broad.mit.edu 37 1 158224939 158224939 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:158224939C>A uc001frt.2 + 2 657 c.124C>A c.(124-126)CAA>AAA p.Q42K NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 42 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TTCCTGGAAACAAAATCTGGT 0.498000 CD1A 909 broad.mit.edu 37 1 158224948 158224948 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:158224948G>A uc001frt.2 + 2 666 c.133G>A c.(133-135)GTC>ATC p.V45I NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 45 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) ACAAAATCTGGTCTCAGGTTG 0.498000 MNDA 4332 broad.mit.edu 37 1 158813818 158813818 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:158813818C>T uc001fsz.1 + 4 676 c.476C>T c.(475-477)CCA>CTA p.P159L NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 159 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) AGTAAGCCCCCAGGTCCCTCA 0.463000 CADM3 57863 broad.mit.edu 37 1 159163671 159163671 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:159163671C>T uc001ftl.2 + 5 674 c.532C>T c.(532-534)CGC>TGC p.R178C CADM3_uc009wsy.1_Missense_Mutation_p.R178C|CADM3_uc001ftk.2_Missense_Mutation_p.R212C NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 178 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) AGAACCAACCCGCATACAGGA 0.502000 IGSF8 93185 broad.mit.edu 37 1 160062767 160062767 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:160062767C>T uc001fva.2 - 4 1304 c.1259G>A c.(1258-1260)CGT>CAT p.R420H IGSF8_uc001fuz.2_Missense_Mutation_p.R420H|IGSF8_uc009wtf.2_Missense_Mutation_p.R420H NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 420 Ig-like C2-type 3.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 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) GGCTGCTTCACGAAGCCGGGT 0.652000 ATP1A4 480 broad.mit.edu 37 1 160121890 160121890 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:160121890A>T uc001fve.3 + 1 539 c.60A>T c.(58-60)AGA>AGT p.R20S ATP1A4_uc001fvf.3_RNA NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 20 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAAGACGAAGACCTAAAAAAG 0.488000 CASQ1 844 broad.mit.edu 37 1 160165279 160165279 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:160165279G>T uc010pja.1 + 5 863 c.606G>T c.(604-606)GAG>GAT p.E202D NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 202 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGCAGCTGAGGAGTTTCATC 0.562000 VANGL2 57216 broad.mit.edu 37 1 160390844 160390844 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:160390844A>C uc001fwb.1 + 7 1239 c.940A>C c.(940-942)AAC>CAC p.N314H VANGL2_uc001fwc.1_Missense_Mutation_p.N314H NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 314 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGTGCAGAAAACAGCACCAA 0.552000 SLAMF7 57823 broad.mit.edu 37 1 160721212 160721212 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:160721212G>C uc001fwq.2 + 5 862 c.847G>C c.(847-849)GAG>CAG p.E283Q SLAMF7_uc010pjn.1_Missense_Mutation_p.E189Q|SLAMF7_uc001fws.2_Missense_Mutation_p.E176Q|SLAMF7_uc001fwr.2_Intron|SLAMF7_uc010pjo.1_Missense_Mutation_p.E152Q|SLAMF7_uc010pjp.1_Missense_Mutation_p.E136Q|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Intron NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN SLAM family member 7 283 Cytoplasmic (Potential). cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity skin(2)|ovary(1) 3 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGAGAACACAGAGTACGACAC 0.453000 ADAMTS4 9507 broad.mit.edu 37 1 161163914 161163914 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:161163914G>A uc001fyt.3 - 5 1787 c.1359C>T c.(1357-1359)TTC>TTT p.F453F NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 453 Disintegrin. 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) AGTCGGGCCCGAAGGTCAGCT 0.602000 HSPA6 3310 broad.mit.edu 37 1 161495916 161495916 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:161495916G>A uc001gap.2 + 2 2128 c.1468G>A c.(1468-1470)GTG>ATG p.V490M HSPA6_uc001gaq.2_Missense_Mutation_p.V490M NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 490 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CATCCTGAGCGTGACAGCCAC 0.552000 LMX1A 4009 broad.mit.edu 37 1 165218837 165218837 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:165218837C>T uc001gcy.1 - 3 525 c.304G>A c.(304-306)GCT>ACT p.A102T LMX1A_uc001gcz.1_Missense_Mutation_p.A102T NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 102 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) TCATTGGGAGCGATGGCCTCG 0.532000 SELE 6401 broad.mit.edu 37 1 169699580 169699580 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:169699580G>T uc001ggm.3 - 5 865 c.708C>A c.(706-708)GCC>GCA p.A236A C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 236 Sushi 1.|Extracellular (Potential). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) TACCATTGCAGGCTGGAATAG 0.448000 C1orf9 51430 broad.mit.edu 37 1 172558186 172558186 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:172558186C>T uc001giq.3 + 18 2261 c.1945C>T c.(1945-1947)CGA>TGA p.R649* C1orf9_uc010pmm.1_Nonsense_Mutation_p.R649*|C1orf9_uc009wwd.2_Nonsense_Mutation_p.R605*|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 649 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) GCAGCGCAGCCGAACTGCTTT 0.388000 RFWD2 64326 broad.mit.edu 37 1 176015447 176015447 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:176015447G>A uc001gku.1 - 12 1547 c.1291C>T c.(1291-1293)CGG>TGG p.R431W RFWD2_uc001gkv.1_Missense_Mutation_p.R407W|RFWD2_uc001gkw.1_Missense_Mutation_p.R191W|RFWD2_uc009wwv.2_Missense_Mutation_p.R230W|RFWD2_uc001gkt.1_Missense_Mutation_p.R270W NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 431 WD 1. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 TCACAATCCCGGTCAAATTCA 0.343000 ASTN1 460 broad.mit.edu 37 1 177001771 177001771 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:177001771C>T uc001glc.2 - 3 898 c.686G>A c.(685-687)GGC>GAC p.G229D ASTN1_uc001glb.1_Missense_Mutation_p.G229D|ASTN1_uc001gld.1_Missense_Mutation_p.G229D|ASTN1_uc009wwx.1_Missense_Mutation_p.G229D|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 229 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GCTCAGGGTGCCACTGGAGTT 0.602000 FAM5B 57795 broad.mit.edu 37 1 177199054 177199054 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:177199054G>A uc001glf.2 + 2 354 c.42G>A c.(40-42)CCG>CCA p.P14P NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 14 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GGCTTCGGCCGGCGGTGGCCC 0.667000 GLUL 2752 broad.mit.edu 37 1 182353564 182353564 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:182353564A>G uc001gpa.1 - 7 1310 c.1098T>C c.(1096-1098)GAT>GAC p.D366D GLUL_uc010pnt.1_Silent_p.D153D|GLUL_uc001gpb.1_Silent_p.D366D|GLUL_uc001gpc.1_Silent_p.D366D|GLUL_uc001gpd.1_Silent_p.D366D NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 366 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) GGAAGGGCTCATCGCCGGTTT 0.532000 DHX9 1660 broad.mit.edu 37 1 182844070 182844070 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:182844070A>G uc001gpr.2 + 16 1959 c.1796A>G c.(1795-1797)GAT>GGT p.D599G DHX9_uc001gps.2_Missense_Mutation_p.D385G NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 599 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 aaggatgatgatggtggtgag 0.303000 LAMC1 3915 broad.mit.edu 37 1 183079760 183079760 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:183079760C>T uc001gpy.3 + 4 1249 c.992C>T c.(991-993)GCA>GTA p.A331V NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 331 Laminin EGF-like 1. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGAGGAGGGCAACTGCGGAA 0.483000 PRG4 10216 broad.mit.edu 37 1 186273298 186273298 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:186273298T>G uc001gru.3 + 5 429 c.378T>G c.(376-378)TCT>TCG p.S126S PRG4_uc001grt.3_Silent_p.S85S|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 126 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CAGGAGCATCTCAAACCATCA 0.403000 FAM5C 339479 broad.mit.edu 37 1 190233999 190233999 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:190233999A>C uc001gse.1 - 4 846 c.614T>G c.(613-615)ATA>AGA p.I205R FAM5C_uc010pot.1_Missense_Mutation_p.I103R NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 205 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TCTTACCTTTATGGCAGTGGA 0.393000 RGS1 5996 broad.mit.edu 37 1 192548282 192548282 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:192548282C>A uc001gsi.1 + 5 526 c.460C>A c.(460-462)CGC>AGC p.R154S NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 154 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) TATTGACTTCCGCACTCGAGA 0.333000 ASPM 259266 broad.mit.edu 37 1 197070110 197070110 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:197070110T>A uc001gtu.2 - 18 8528 c.8271A>T c.(8269-8271)AAA>AAT p.K2757N ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.K605N NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2757 IQ 31. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CATTTTTCAATTTTTGTCTAA 0.348000 PTPRC 5788 broad.mit.edu 37 1 198701498 198701498 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:198701498C>T uc001gur.1 + 19 2218 c.2038C>T c.(2038-2040)CGT>TGT p.R680C PTPRC_uc001gus.1_Missense_Mutation_p.R632C|PTPRC_uc001gut.1_Missense_Mutation_p.R519C|PTPRC_uc009wzf.1_Missense_Mutation_p.R568C|PTPRC_uc010ppg.1_Missense_Mutation_p.R616C NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 680 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GAATAAAAACCGTTATGTTGA 0.363000 IGFN1 91156 broad.mit.edu 37 1 201186437 201186437 + Silent SNP G G A rs142174046 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:201186437G>A uc001gwc.2 + 6 1870 c.1098G>A c.(1096-1098)GCG>GCA p.A366A IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 CCCCTTCCGCGCCAGCCATCC 0.677000 PLXNA2 5362 broad.mit.edu 37 1 208216456 208216456 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:208216456G>A uc001hgz.2 - 21 4725 c.3967C>T c.(3967-3969)CGA>TGA p.R1323* NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1323 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) AACAGGACTCGCATAGCGTAG 0.602000 TRAF3IP3 80342 broad.mit.edu 37 1 209933484 209933484 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:209933484C>A uc001hho.2 + 3 390 c.100C>A c.(100-102)CGC>AGC p.R34S TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R34S|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R34S|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R34S|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R34S NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 34 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) TGAAAGCCGCCGCTGCCGTCC 0.627000 C1orf107 27042 broad.mit.edu 37 1 210004282 210004282 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:210004282G>A uc001hhr.1 + 3 358 c.282G>A c.(280-282)GAG>GAA p.E94E C1orf107_uc009xcu.1_5'UTR NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 94 Glu-rich. multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) aggaggaagaggaagaagaCA 0.338000 KCNK2 3776 broad.mit.edu 37 1 215342563 215342563 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:215342563G>A uc001hkq.2 + 4 666 c.497G>A c.(496-498)CGC>CAC p.R166H KCNK2_uc001hko.2_Missense_Mutation_p.R162H|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.R151H NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 166 outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATCTCACCACGCACAGAAGGC 0.294000 IARS2 55699 broad.mit.edu 37 1 220311323 220311323 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:220311323G>T uc001hmc.2 + 17 2217 c.2113G>T c.(2113-2115)GTC>TTC p.V705F IARS2_uc001hmd.2_Missense_Mutation_p.V41F NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 705 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TGATTCCAATGTCTTCACCGA 0.413000 RAB3GAP2 25782 broad.mit.edu 37 1 220327384 220327384 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:220327384A>G uc010puk.1 - 32 3735 c.3571T>C c.(3571-3573)TTC>CTC p.F1191L RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.F771L|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.F135L NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 1191 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) AGGTCTTTGAAAAATGCATTT 0.318000 EPHX1 2052 broad.mit.edu 37 1 226032198 226032198 + Splice_Site SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:226032198G>A uc001hpk.2 + 8 1121 c.1041_splice c.e8-1 p.R347_splice EPHX1_uc001hpl.2_Splice_Site_p.R347_splice NM_001136018 NP_001129490 P07099 HYEP_HUMAN epoxide hydrolase 1 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity ovary(3)|lung(1) 4 Breast(184;0.197) TGCGTTCCCAGGAAGTTCTCC 0.567000 SNAP47 116841 broad.mit.edu 37 1 227935782 227935782 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:227935782A>G uc001hrf.2 + 2 894 c.480A>G c.(478-480)CCA>CCG p.P160P SNAP47_uc001hqz.2_Silent_p.P115P|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Silent_p.P160P|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_Silent_p.P115P NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 160 t-SNARE coiled-coil homology 1. endomembrane system|membrane|perinuclear region of cytoplasm ovary(1) 1 CATCTGTCCCAAGGACCCGGG 0.637000 ARF1 375 broad.mit.edu 37 1 228285130 228285130 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:228285130G>A uc001hrr.2 + 3 464 c.236G>A c.(235-237)CGC>CAC p.R79H ARF1_uc001hrs.2_Missense_Mutation_p.R79H|ARF1_uc001hrt.2_Intron|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.R79H|ARF1_uc001hrv.2_Missense_Mutation_p.R79H|ARF1_uc001hrw.2_Missense_Mutation_p.R79H NM_001024226 NP_001019397 P84077 ARF1_HUMAN ADP-ribosylation factor 1 79 cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity 0 Prostate(94;0.0405) CCCCTGTGGCGCCACTACTTC 0.602000 OBSCN 84033 broad.mit.edu 37 1 228538598 228538598 + Missense_Mutation SNP G G A rs151074400 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:228538598G>A uc009xez.1 + 77 18417 c.18373G>A c.(18373-18375)GCC>ACC p.A6125T OBSCN_uc001hsn.2_Missense_Mutation_p.A6125T|OBSCN_uc001hsr.1_Missense_Mutation_p.A754T|OBSCN_uc009xfa.2_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6125 Ig-like 53. 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) GGGAGAGGACGCCCAGTTCAC 0.597000 NUP133 55746 broad.mit.edu 37 1 229619808 229619808 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:229619808A>G uc001htn.2 - 12 1677 c.1585T>C c.(1585-1587)TAC>CAC p.Y529H NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 529 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TACCTGCAGTATTGCAGAAAG 0.348000 TRIM67 440730 broad.mit.edu 37 1 231299602 231299602 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:231299602C>T uc009xfn.1 + 1 929 c.887C>T c.(886-888)ACG>ATG p.T296M NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 296 cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) GGGGGCAGCACGGCCCGCAAG 0.706000 C1orf57 84284 broad.mit.edu 37 1 233105691 233105691 + Missense_Mutation SNP G G A rs138687966 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:233105691G>A uc001hvj.1 + 4 418 c.331G>A c.(331-333)GTC>ATC p.V111I C1orf57_uc001hvi.2_Missense_Mutation_p.V111I|C1orf57_uc009xft.1_Intron NM_032324 NP_115700 Q9BSD7 NTPCR_HUMAN nucleoside-triphosphatase C1orf57 111 ATP (Probable). ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity 0 all_cancers(173;0.0818)|Prostate(94;0.137) AAGAGTGTGCGTCATCGATGA 0.507000 RYR2 6262 broad.mit.edu 37 1 237755119 237755119 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:237755119G>A uc001hyl.1 + 32 4361 c.4241G>A c.(4240-4242)CGG>CAG p.R1414Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1414 Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCTGATGATCGGGATGACTAT 0.398000 OR6F1 343169 broad.mit.edu 37 1 247876039 247876039 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:247876039T>C uc001idj.1 - 1 19 c.19A>G c.(19-21)ACT>GCT p.T7A NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGGGGCAGAGTTTTGTTGCCT 0.448000 IL2RA 3559 broad.mit.edu 37 10 6063591 6063591 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:6063591C>A uc001iiz.1 - 4 592 c.433G>T c.(433-435)GGG>TGG p.G145W IL2RA_uc009xih.1_Intron|IL2RA_uc001ija.1_Intron NM_000417 NP_000408 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha chain precursor 145 Sushi 2.|Extracellular (Potential). cell proliferation integral to membrane interleukin-2 receptor activity ovary(1)|skin(1) 2 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ACCATCTGCCCCACCACGAAA 0.512000 PRKCQ 5588 broad.mit.edu 37 10 6472782 6472782 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:6472782C>T uc001ijj.1 - 17 2030 c.1955G>A c.(1954-1956)CGG>CAG p.R652Q PRKCQ_uc009xim.1_Missense_Mutation_p.R589Q|PRKCQ_uc001iji.1_Missense_Mutation_p.R685Q|PRKCQ_uc009xin.1_Missense_Mutation_p.R616Q|PRKCQ_uc010qax.1_Missense_Mutation_p.R527Q NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 652 AGC-kinase C-terminal. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 CACTTTCGGCCGGAACGGTGG 0.617000 SFMBT2 57713 broad.mit.edu 37 10 7269822 7269822 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:7269822G>A uc009xio.1 - 10 1289 c.1198C>T c.(1198-1200)CGA>TGA p.R400* SFMBT2_uc001ijn.1_Nonsense_Mutation_p.R400*|SFMBT2_uc010qay.1_Nonsense_Mutation_p.R400* NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 400 MBT 4. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 CTTACATTTCGGAAGCAGAAG 0.423000 PTER 9317 broad.mit.edu 37 10 16528558 16528558 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:16528558C>T uc001iog.1 + 4 847 c.640C>T c.(640-642)CGA>TGA p.R214* PTER_uc001ioh.1_Nonsense_Mutation_p.R214*|PTER_uc001ioi.1_Nonsense_Mutation_p.R214*|PTER_uc009xjp.1_Nonsense_Mutation_p.R214* NM_030664 NP_109589 Q96BW5 PTER_HUMAN phosphotriesterase related 214 catabolic process hydrolase activity, acting on ester bonds|zinc ion binding ovary(2) 2 TCAGATTATCCGAATATTGCA 0.478000 CUBN 8029 broad.mit.edu 37 10 16955916 16955916 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:16955916C>T uc001ioo.2 - 48 7479 c.7427G>A c.(7426-7428)CGG>CAG p.R2476Q NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2476 CUB 18. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTCGCAGATCCGGCCATGAGG 0.532000 KIAA1462 57608 broad.mit.edu 37 10 30315148 30315148 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:30315148C>T uc001iux.2 - 2 3988 c.3929G>A c.(3928-3930)CGT>CAT p.R1310H KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1172H|KIAA1462_uc009xle.1_Missense_Mutation_p.R1310H NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1310 ovary(4) 4 TCTCTGGGCACGGTCCCCACT 0.612000 MAP3K8 1326 broad.mit.edu 37 10 30739267 30739267 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:30739267C>T uc001ivi.1 + 5 1281 c.585C>T c.(583-585)GGC>GGT p.G195G MAP3K8_uc009xlf.1_Silent_p.G195G|MAP3K8_uc001ivj.1_Silent_p.G195G NM_005204 NP_005195 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 195 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(3)|central_nervous_system(1) 4 Prostate(175;0.151) AGCTGTATGGCGCAGTCCTGT 0.488000 ZNF33B 7582 broad.mit.edu 37 10 43088761 43088761 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:43088761G>A uc001jaf.1 - 5 1752 c.1637C>T c.(1636-1638)ACG>ATG p.T546M ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.T434M|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 546 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCCTGTGTGCGTTCTCTGATG 0.428000 PPYR1 5540 broad.mit.edu 37 10 47087582 47087582 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:47087582C>T uc001jee.2 + 3 1218 c.799C>T c.(799-801)CTG>TTG p.L267L ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.L267L NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 267 Helical; Name=6; (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 CAATGTGGTGCTGGTGGTGAT 0.602000 SLC18A3 6572 broad.mit.edu 37 10 50819360 50819360 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:50819360G>A uc001jhw.2 + 1 1014 c.574G>A c.(574-576)GCC>ACC p.A192T CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 192 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CTCAGCCTTCGCCGACACGTC 0.657000 SLC18A3 6572 broad.mit.edu 37 10 50819836 50819836 + Silent SNP G G A rs140704279 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:50819836G>A uc001jhw.2 + 1 1490 c.1050G>A c.(1048-1050)GCG>GCA p.A350A CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 350 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GCCTGGCGGCGCGCTACCCAC 0.697000 LRRTM3 347731 broad.mit.edu 37 10 68687864 68687864 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:68687864C>T uc001jmz.1 + 2 1740 c.1190C>T c.(1189-1191)CCG>CTG p.P397L CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.P397L NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 397 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CCTTTGCCCCCGACGGTGGGA 0.602000 ADAMTS14 140766 broad.mit.edu 37 10 72511878 72511878 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:72511878G>T uc001jrh.2 + 18 2624 c.2624G>T c.(2623-2625)CGG>CTG p.R875L ADAMTS14_uc001jrg.2_Missense_Mutation_p.R878L NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 875 TSP type-1 2.|Poly-Arg. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 TACGGCTGCCGGCGCAGACGA 0.667000 SGPL1 8879 broad.mit.edu 37 10 72636413 72636413 + Nonsense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:72636413G>T uc001jrm.2 + 14 1783 c.1561G>T c.(1561-1563)GGA>TGA p.G521* SGPL1_uc009xqk.2_RNA NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 521 Cytoplasmic (Potential). apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) GAAGACCACAGGAATGGTAGG 0.358000 UNC5B 219699 broad.mit.edu 37 10 73047450 73047450 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:73047450G>A uc001jro.2 + 6 1274 c.829G>A c.(829-831)GCT>ACT p.A277T UNC5B_uc001jrp.2_Missense_Mutation_p.A277T NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 277 TSP type-1 1.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 CACCAACCCCGCTCCACTCAA 0.662000 CDH23 64072 broad.mit.edu 37 10 73537990 73537990 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:73537990C>T uc001jrx.3 + 38 5489 c.5112C>T c.(5110-5112)CAC>CAT p.H1704H NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1704 Cadherin 16.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 AGATCAGCCACGGCCGCTACA 0.607000 PPP3CB 5532 broad.mit.edu 37 10 75239252 75239252 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:75239252G>A uc001jue.2 - 2 244 c.109C>T c.(109-111)CGC>TGC p.R37C PPP3CB_uc001juf.2_Missense_Mutation_p.R37C|PPP3CB_uc001jug.2_Missense_Mutation_p.R37C|PPP3CB_uc001jui.2_Missense_Mutation_p.R37C|PPP3CB_uc001juh.2_5'UTR NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 37 Catalytic. skin(1) 1 Prostate(51;0.0119) GATGTCAAGCGATGTGTTGGG 0.358000 USP54 159195 broad.mit.edu 37 10 75276308 75276308 + Silent SNP C C T rs138689241 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:75276308C>T uc001juo.2 - 18 3893 c.3876G>A c.(3874-3876)ACG>ACA p.T1292T USP54_uc010qkk.1_Silent_p.T474T|USP54_uc001juk.2_Silent_p.T380T|USP54_uc001jul.2_Silent_p.T380T|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1292 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) AGGTTACACACGTATGGGAAT 0.478000 SYNPO2L 79933 broad.mit.edu 37 10 75407549 75407549 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:75407549T>C uc001jut.3 - 4 2013 c.1861A>G c.(1861-1863)ACG>GCG p.T621A SYNPO2L_uc001jus.3_Missense_Mutation_p.T397A NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 621 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) AGGATACCCGTGCGGGCAGCT 0.711000 DLG5 9231 broad.mit.edu 37 10 79579711 79579711 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:79579711C>T uc001jzk.2 - 16 3538 c.3468G>A c.(3466-3468)TCG>TCA p.S1156S DLG5_uc001jzi.2_5'UTR|DLG5_uc001jzj.2_Silent_p.S571S|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.S760S NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1156 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AATGCCCAGGCGAGTAAGGTG 0.627000 DYDC2 84332 broad.mit.edu 37 10 82122250 82122250 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:82122250A>G uc001kca.1 + 3 431 c.51A>G c.(49-51)GCA>GCG p.A17A DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Silent_p.A17A NM_032372 NP_115748 Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 17 protein binding 0 Colorectal(32;0.229) TGGCCCAGGCACTGGCAGAGG 0.463000 DYDC2 84332 broad.mit.edu 37 10 82126484 82126484 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:82126484T>G uc001kca.1 + 5 691 c.311T>G c.(310-312)TTC>TGC p.F104C DYDC2_uc001kbz.1_RNA|DYDC2_uc001kcb.1_Missense_Mutation_p.F104C NM_032372 NP_115748 Q96IM9 DYDC2_HUMAN DPY30 domain containing 2 104 protein binding 0 Colorectal(32;0.229) AAGACCATATTCATGCAGGAG 0.428000 FAM190B 54462 broad.mit.edu 37 10 86132141 86132141 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:86132141C>T uc001kdh.1 + 2 1527 c.1333C>T c.(1333-1335)CCA>TCA p.P445S FAM190B_uc001kdg.1_Missense_Mutation_p.P445S|FAM190B_uc010qmd.1_Missense_Mutation_p.P445S NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 445 ovary(3)|skin(1) 4 TGAAAATGGGCCACCACAGGA 0.353000 GRID1 2894 broad.mit.edu 37 10 87406989 87406989 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:87406989G>A uc001kdl.1 - 13 2264 c.2163C>T c.(2161-2163)TGC>TGT p.C721C GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.C292C|uc001kdm.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 721 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GACTGGACACGCAGTTGTCAG 0.617000 Multiple Myeloma(13;0.14) HTR7 3363 broad.mit.edu 37 10 92508761 92508761 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:92508761G>A uc001kha.2 - 2 1373 c.1130C>T c.(1129-1131)TCT>TTT p.S377F HTR7_uc001kgz.2_Missense_Mutation_p.S377F|HTR7_uc001khb.2_Missense_Mutation_p.S377F NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 377 Helical; Name=7; (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GTTAATGAGAGAGTTTGCATA 0.532000 CYP26A1 1592 broad.mit.edu 37 10 94834167 94834167 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:94834167C>T uc001kil.2 + 2 337 c.292C>T c.(292-294)CGG>TGG p.R98W CYP26A1_uc001kik.1_Missense_Mutation_p.R29W|CYP26A1_uc001kim.1_Silent_p.C2C NM_000783 NP_000774 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, 98 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding p.W98*(1) upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 Colorectal(252;0.122) GGACAATGTGCGGCGCATCTT 0.617000 MYOF 26509 broad.mit.edu 37 10 95069859 95069859 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:95069859C>T uc001kin.2 - 53 6188 c.6065G>A c.(6064-6066)CGC>CAC p.R2022H MYOF_uc001kio.2_Missense_Mutation_p.R2009H|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 2022 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 CTTAAAGCGGCGCCACACGAT 0.532000 PLCE1 51196 broad.mit.edu 37 10 95791574 95791574 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:95791574C>T uc001kjk.2 + 2 1405 c.771C>T c.(769-771)GAC>GAT p.D257D PLCE1_uc010qnx.1_Silent_p.D257D NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 257 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.D257D(1) ovary(2)|skin(1) 3 Colorectal(252;0.0458) ATCATTGTGACACCTTGAATG 0.368000 DHDPSL 112817 broad.mit.edu 37 10 99371277 99371277 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:99371277G>A uc001kny.2 + 7 1204 c.845G>A c.(844-846)CGC>CAC p.R282H DHDPSL_uc001knz.2_Missense_Mutation_p.R119H|PI4K2A_uc010qoy.1_Intron NM_138413 NP_612422 Q86XE5 HOGA1_HUMAN DHDPS-like protein isoform 1 282 glyoxylate catabolic process mitochondrion 4-hydroxy-2-oxoglutarate aldolase activity 0 GTGACCCGGCGCTTTGGGATC 0.552000 DNMBP 23268 broad.mit.edu 37 10 101645575 101645575 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:101645575C>T uc001kqj.2 - 14 3759 c.3667G>A c.(3667-3669)GAA>AAA p.E1223K DNMBP_uc010qpl.1_Missense_Mutation_p.E159K|DNMBP_uc001kqg.2_Missense_Mutation_p.E511K|DNMBP_uc001kqh.2_Missense_Mutation_p.E855K NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 1223 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) CTGTGCTCTTCGTGGAAGATG 0.398000 CWF19L1 55280 broad.mit.edu 37 10 101996719 101996719 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:101996719G>T uc001kqq.1 - 12 1349 c.1262C>A c.(1261-1263)CCT>CAT p.P421H CWF19L1_uc001kqs.1_Missense_Mutation_p.P173H|CWF19L1_uc001kqr.1_Intron|CWF19L1_uc001kqt.1_Missense_Mutation_p.P125H|CWF19L1_uc010qpn.1_Missense_Mutation_p.P284H NM_018294 NP_060764 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control 421 catalytic activity 0 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) GATTGGGACAGGAATGACCTG 0.507000 POLL 27343 broad.mit.edu 37 10 103342587 103342587 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:103342587C>T uc001ktg.1 - 6 1893 c.1127G>A c.(1126-1128)GGC>GAC p.G376D DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.G49D|POLL_uc001kte.1_Missense_Mutation_p.G68D|POLL_uc001kth.1_Missense_Mutation_p.G101D|POLL_uc001kti.1_Missense_Mutation_p.G376D|POLL_uc001ktj.1_Missense_Mutation_p.G376D|POLL_uc001ktf.2_Missense_Mutation_p.G284D|POLL_uc001ktk.1_Missense_Mutation_p.G115D|POLL_uc010qqa.1_Missense_Mutation_p.G115D|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.G376D|POLL_uc001ktl.2_Missense_Mutation_p.G288D|POLL_uc010qqc.1_Missense_Mutation_p.G68D NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 376 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) ATGCTTCAGGCCGATGGCCTG 0.567000 DNA_polymerases_(catalytic_subunits) C10orf76 79591 broad.mit.edu 37 10 103716445 103716445 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:103716445G>A uc009xwy.1 - 22 1716 c.1614C>T c.(1612-1614)GGC>GGT p.G538G C10orf76_uc009xwx.1_RNA NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 538 Helical; (Potential). integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) GAAATGTGTCGCCATATGTGA 0.383000 PITX3 5309 broad.mit.edu 37 10 103990802 103990802 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:103990802G>T uc001kuu.1 - 4 532 c.378C>A c.(376-378)GCC>GCA p.A126A NM_005029 NP_005020 O75364 PITX3_HUMAN paired-like homeodomain 3 126 dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGCATAGCTCGGCCTGCTGGC 0.716000 TMEM180 79847 broad.mit.edu 37 10 104230587 104230587 + Silent SNP G G A rs139994075 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:104230587G>A uc001kvt.2 + 5 636 c.417G>A c.(415-417)ACG>ACA p.T139T TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Silent_p.T139T NM_024789 NP_079065 Q14CX5 TM180_HUMAN transmembrane protein 180 139 Helical; (Potential). integral to membrane ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCTTCCTGACGCTCGTGGACC 0.667000 ACTR1A 10121 broad.mit.edu 37 10 104248022 104248022 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:104248022C>T uc001kvv.2 - 4 308 c.200G>A c.(199-201)GGG>GAG p.G67E ACTR1A_uc010qqn.1_5'UTR|ACTR1A_uc010qqo.1_Missense_Mutation_p.G20E NM_005736 NP_005727 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, 67 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1) 1 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) TGAAAGCAGCCCTCGGTGCTC 0.522000 PDCD11 22984 broad.mit.edu 37 10 105200319 105200319 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:105200319G>A uc001kwy.1 + 29 4508 c.4421G>A c.(4420-4422)CGG>CAG p.R1474Q NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1474 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) CGGGAGTGCCGGGAGTCTGGG 0.567000 CALHM2 51063 broad.mit.edu 37 10 105209370 105209370 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:105209370G>A uc001kwz.2 - 2 715 c.329C>T c.(328-330)GCG>GTG p.A110V CALHM2_uc001kxa.2_Missense_Mutation_p.A110V|CALHM2_uc001kxc.2_Missense_Mutation_p.A110V|CALHM2_uc001kxb.2_Missense_Mutation_p.A110V|CALHM2_uc001kxd.1_Missense_Mutation_p.A110V NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 110 Helical; (Potential). integral to membrane skin(1) 1 GGCCACAGCCGCACGTCCCAG 0.627000 DUSP5 1847 broad.mit.edu 37 10 112258051 112258051 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:112258051G>A uc001kzd.2 + 1 427 c.172G>A c.(172-174)GGC>AGC p.G58S NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 58 Nuclear localization signal (Potential).|Rhodanese. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) ggcccggggcggcgcggTGTC 0.647000 ADRA2A 150 broad.mit.edu 37 10 112838242 112838242 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:112838242G>A uc001kzo.2 + 1 1453 c.488G>A c.(487-489)CGC>CAC p.R163H NM_000681 NP_000672 P08913 ADA2A_HUMAN alpha-2A-adrenergic receptor 148 Cytoplasmic (By similarity). actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding 0 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) CGCACGCCGCGCCGCATCAAG 0.547000 C10orf96 374355 broad.mit.edu 37 10 118117366 118117366 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:118117366A>G uc001lck.2 + 7 820 c.569A>G c.(568-570)AAT>AGT p.N190S NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 190 Potential. ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) GATGAAGAGAATGAATCCATT 0.279000 EIF3A 8661 broad.mit.edu 37 10 120801712 120801712 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:120801712C>T uc001ldu.2 - 19 3466 c.3320G>A c.(3319-3321)CGG>CAG p.R1107Q EIF3A_uc010qsu.1_Missense_Mutation_p.R1073Q|EIF3A_uc009xzg.1_Missense_Mutation_p.R146Q NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1107 Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|19. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CCTGGGACCCCGGTCATCATC 0.627000 CHST15 51363 broad.mit.edu 37 10 125805494 125805494 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:125805494G>A uc001lhl.2 - 1 748 c.235C>T c.(235-237)CGA>TGA p.R79* CHST15_uc001lhm.2_Nonsense_Mutation_p.R79*|CHST15_uc001lhn.2_Nonsense_Mutation_p.R79*|CHST15_uc010que.1_Nonsense_Mutation_p.R79*|CHST15_uc001lho.2_Nonsense_Mutation_p.R79* NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN B cell RAG associated protein 79 Cytoplasmic (Potential). hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity ovary(1) 1 AGGCTACATCGCTTCCCCTTT 0.473000 OAT 4942 broad.mit.edu 37 10 126097148 126097148 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:126097148C>T uc001lhp.2 - 4 590 c.483G>A c.(481-483)AAG>AAA p.K161K OAT_uc001lhq.2_RNA|OAT_uc001lhr.2_Silent_p.K23K NM_000274 NP_000265 P04181 OAT_HUMAN ornithine aminotransferase precursor 161 cellular amino acid biosynthetic process|visual perception mitochondrial matrix ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding 0 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114) TCTGAATGCCCTTCACGGTAT 0.328000 GPR123 84435 broad.mit.edu 37 10 134941863 134941863 + Silent SNP C C T rs148877077 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:134941863C>T uc001llx.3 + 7 967 c.531C>T c.(529-531)GGC>GGT p.G177G GPR123_uc001llw.2_Silent_p.G896G NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 177 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CCAGCCTGGGCGCCTTCTACG 0.692000 KNDC1 85442 broad.mit.edu 37 10 135020656 135020656 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:135020656C>T uc001llz.1 + 20 3596 c.3595C>T c.(3595-3597)CGC>TGC p.R1199C KNDC1_uc001lma.1_3'UTR NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1199 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GTACGCGGAACGCTGGGGCCT 0.677000 NLRP6 171389 broad.mit.edu 37 11 281325 281325 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:281325C>T uc010qvs.1 + 4 1591 c.1591C>T c.(1591-1593)CGT>TGT p.R531C NLRP6_uc010qvt.1_Missense_Mutation_p.R531C NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 531 cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GACACTCCTGCGTGGGGACGC 0.692000 CEND1 51286 broad.mit.edu 37 11 788426 788426 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:788426G>A uc001lrh.1 - 2 330 c.151C>T c.(151-153)CCG>TCG p.P51S NM_016564 NP_057648 Q8N111 CEND_HUMAN cell cycle exit and neuronal differentiation 1 51 Cytoplasmic (Potential). integral to membrane 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGCTGGCGGCTGCTGCTTC 0.682000 OR51D1 390038 broad.mit.edu 37 11 4661386 4661386 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:4661386C>T uc010qyk.1 + 1 366 c.366C>T c.(364-366)GCC>GCT p.A122A NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 122 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCTGTCAGCCGTGGAGTCAG 0.552000 OR51Q1 390061 broad.mit.edu 37 11 5443929 5443929 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:5443929C>T uc010qzd.1 + 1 499 c.499C>T c.(499-501)CGA>TGA p.R167* HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTACTCAAGCGACTGCCTTT 0.517000 OR52N2 390077 broad.mit.edu 37 11 5842064 5842064 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:5842064C>T uc010qzp.1 + 1 499 c.499C>T c.(499-501)CGC>TGC p.R167C TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCACCAAGCGCCTGCCCTA 0.517000 DNHD1 144132 broad.mit.edu 37 11 6520071 6520071 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:6520071C>T uc001mdw.3 + 3 1190 c.626C>T c.(625-627)GCT>GTT p.A209V DNHD1_uc001mdp.2_Missense_Mutation_p.A209V NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 209 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CTAGAAGAGGCTGTGTGGCTG 0.577000 RRP8 23378 broad.mit.edu 37 11 6622758 6622758 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:6622758G>A uc001med.2 - 3 617 c.538C>T c.(538-540)CCT>TCT p.P180S ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 180 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 AATGTATGAGGGGGTTTAGGG 0.542000 SYT9 143425 broad.mit.edu 37 11 7324372 7324372 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:7324372G>A uc001mfe.2 + 2 485 c.248G>A c.(247-249)CGA>CAA p.R83Q SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 83 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GTTCCGTGGCGAGAACGAGGC 0.542000 OR5P3 120066 broad.mit.edu 37 11 7847414 7847414 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:7847414C>T uc010rbg.1 - 1 106 c.106G>A c.(106-108)GTT>ATT p.V36I NM_153445 NP_703146 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAGGTGACAACATAAATTCCT 0.368000 ST5 6764 broad.mit.edu 37 11 8752691 8752691 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:8752691T>A uc001mgt.2 - 3 332 c.146A>T c.(145-147)GAT>GTT p.D49V ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.D49V|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.D49V NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 49 Pro-rich. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GGTTTCACTATCACTGAGCGG 0.562000 MICAL2 9645 broad.mit.edu 37 11 12246337 12246337 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:12246337C>T uc001mjz.2 + 13 1946 c.1658C>T c.(1657-1659)GCC>GTC p.A553V MICAL2_uc010rch.1_Missense_Mutation_p.A553V|MICAL2_uc001mka.2_Missense_Mutation_p.A553V|MICAL2_uc010rci.1_Missense_Mutation_p.A553V|MICAL2_uc001mkb.2_Missense_Mutation_p.A553V|MICAL2_uc001mkc.2_Missense_Mutation_p.A553V|MICAL2_uc001mkd.2_Missense_Mutation_p.A382V|MICAL2_uc010rcj.1_5'UTR NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 553 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GCCCTGTGTGCCATCATCCAC 0.622000 NAV2 89797 broad.mit.edu 37 11 20099098 20099098 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:20099098G>A uc010rdm.1 + 25 5513 c.5152G>A c.(5152-5154)GCT>ACT p.A1718T NAV2_uc001mpp.2_Missense_Mutation_p.A1598T|NAV2_uc001mpr.3_Missense_Mutation_p.A1662T|NAV2_uc001mpt.2_Missense_Mutation_p.A711T|NAV2_uc009yhx.2_Missense_Mutation_p.A726T|NAV2_uc009yhy.1_Missense_Mutation_p.A624T|NAV2_uc009yhz.2_Missense_Mutation_p.A307T|NAV2_uc001mpu.2_Missense_Mutation_p.A100T NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1718 Potential. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TCCCCTCCAGGCTCACCTTGT 0.468000 DBX1 120237 broad.mit.edu 37 11 20177883 20177883 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:20177883C>A uc001mpw.1 - 4 1026 c.1026G>T c.(1024-1026)CCG>CCT p.P342P NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 303 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTGGCAGCCGCGGGTCCCGCA 0.716000 C11orf46 120534 broad.mit.edu 37 11 30358285 30358285 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:30358285G>A uc001mso.1 + 4 890 c.726G>A c.(724-726)CTG>CTA p.L242L C11orf46_uc001msp.2_5'Flank NM_152316 NP_689529 Q8N8R7 CK046_HUMAN hypothetical protein LOC120534 242 0 GCAAGTGGCTGTATGAGCAAA 0.433000 TRAF6 7189 broad.mit.edu 37 11 36520186 36520186 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:36520186C>T uc001mwr.1 - 4 641 c.301G>A c.(301-303)GCA>ACA p.A101T TRAF6_uc001mws.1_Missense_Mutation_p.A101T NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 101 Interaction with TAX1BP1.|RING-type. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) TTGTGACCTGCATCCCTAACA 0.323000 PTPMT1 114971 broad.mit.edu 37 11 47593071 47593071 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:47593071C>T uc001nfs.3 + 4 689 c.496C>T c.(496-498)CGG>TGG p.R166W PTPMT1_uc001nfv.3_Missense_Mutation_p.P138L|PTPMT1_uc009ylt.2_Missense_Mutation_p.R102W|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_5'UTR NM_175732 NP_783859 Q8WUK0 PTPM1_HUMAN protein tyrosine phosphatase, mitochondrial 1 166 Tyrosine-protein phosphatase. inositol phosphate dephosphorylation mitochondrial inner membrane phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(1) 1 CGCCAAGATCCGGTCATACAT 0.493000 OR4C13 283092 broad.mit.edu 37 11 49974661 49974661 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:49974661G>T uc010rhz.1 + 1 687 c.687G>T c.(685-687)GAG>GAT p.E229D NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 ACAGCTTAGAGGCAAGGCACG 0.478000 OR5F1 338674 broad.mit.edu 37 11 55762042 55762042 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:55762042C>T uc010riv.1 - 1 60 c.60G>A c.(58-60)ACG>ACA p.T20T NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GTAGCTCCAGCGTGTCTGCTA 0.363000 OR5AP2 338675 broad.mit.edu 37 11 56409703 56409703 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:56409703G>T uc001njb.1 - 1 213 c.213C>A c.(211-213)AGC>AGA p.S71R NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 CAAAAGAGAGGCTACTGAGAA 0.433000 P2RX3 5024 broad.mit.edu 37 11 57118321 57118321 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:57118321G>A uc001nju.2 + 8 867 c.791G>A c.(790-792)CGG>CAG p.R264Q NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 264 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 TCCTTCACCCGGCTCGACAGC 0.572000 SMTNL1 219537 broad.mit.edu 37 11 57314092 57314092 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:57314092G>A uc009ymh.1 + 7 1361 c.1361G>A c.(1360-1362)CGG>CAG p.R454Q NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 436 ovary(1) 1 GCAAAGCGCCGGCACAACTTC 0.592000 GLYATL1 92292 broad.mit.edu 37 11 58714625 58714625 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:58714625C>A uc001nnf.2 + 4 441 c.65C>A c.(64-66)CCT>CAT p.P22H uc001nng.1_Intron|GLYATL1_uc001nnh.1_Intron|GLYATL1_uc001nni.1_Missense_Mutation_p.P22H|GLYATL1_uc001nnj.1_Missense_Mutation_p.P22H Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 22 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) AGGAGCATCCCTGAGTCCCTG 0.502000 PRPF19 27339 broad.mit.edu 37 11 60666067 60666067 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:60666067T>C uc001nqf.2 - 13 1293 c.1086A>G c.(1084-1086)GGA>GGG p.G362G NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 362 WD 4. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 CAAAGATGAGTCCGTCAGGGT 0.557000 DAK 26007 broad.mit.edu 37 11 61110303 61110303 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:61110303C>T uc001nre.2 + 10 1109 c.852C>T c.(850-852)ACC>ACT p.T284T DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.T214T NM_015533 NP_056348 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 284 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding 0 CCGACGCTACCGTCCGCTCCC 0.478000 SYT7 9066 broad.mit.edu 37 11 61290643 61290643 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:61290643G>A uc001nrv.2 - 8 1017 c.1011C>T c.(1009-1011)TTC>TTT p.F337F SYT7_uc009ynr.2_Silent_p.F412F NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 337 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 TATCGAAGGCGAAGGACTCAT 0.527000 FADS2 9415 broad.mit.edu 37 11 61624930 61624930 + Silent SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:61624930G>C uc001nsl.1 + 7 960 c.810G>C c.(808-810)GGG>GGC p.G270G FADS2_uc001nsj.2_Silent_p.G248G|FADS2_uc010rlo.1_Silent_p.G239G|FADS2_uc001nsk.2_Silent_p.G270G NM_004265 NP_004256 O95864 FADS2_HUMAN fatty acid desaturase 2 270 Helical; (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding ovary(1)|pancreas(1) 2 Alpha-Linolenic Acid(DB00132) CTGCAGTTGGGCCGCCGCTGC 0.592000 TAF6L 10629 broad.mit.edu 37 11 62554088 62554088 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:62554088T>C uc001nvc.2 + 11 1290 c.1189T>C c.(1189-1191)TGG>CGG p.W397R TMEM179B_uc001nvd.3_5'Flank NM_006473 NP_006464 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II 397 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity ovary(3) 3 CGACCTGCCATGGGACAGCCT 0.706000 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC22A12 116085 broad.mit.edu 37 11 64359362 64359362 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:64359362G>A uc001oam.1 + 1 1081 c.334G>A c.(334-336)GAC>AAC p.D112N SLC22A12_uc009ypr.1_Missense_Mutation_p.D112N|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.D112N|SLC22A12_uc001oan.1_Missense_Mutation_p.D112N|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 112 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 GAGCGAGGCCGACACGGAGCC 0.677000 CDC42EP2 10435 broad.mit.edu 37 11 65088566 65088566 + Missense_Mutation SNP C C T rs139397769 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:65088566C>T uc001odl.2 + 2 647 c.197C>T c.(196-198)CCG>CTG p.P66L NM_006779 NP_006770 O14613 BORG1_HUMAN Cdc42 effector protein 2 66 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity 0 CACCTCCTGCCGGGGACCATG 0.652000 EHBP1L1 254102 broad.mit.edu 37 11 65348778 65348778 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:65348778C>T uc001oeo.3 + 8 1065 c.800C>T c.(799-801)GCT>GTT p.A267V EHBP1L1_uc001oep.1_5'Flank NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 267 central_nervous_system(1) 1 TCAGAACGAGCTAATGAAGCG 0.637000 SNX32 254122 broad.mit.edu 37 11 65617684 65617684 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:65617684G>A uc001ofr.2 + 4 443 c.316G>A c.(316-318)GAG>AAG p.E106K SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Silent_p.A145A NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 106 PX. cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) GAAATTGGGCGAGGGGGACAG 0.602000 BRMS1 25855 broad.mit.edu 37 11 66108741 66108741 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:66108741G>A uc001ohp.1 - 4 441 c.294C>T c.(292-294)GCC>GCT p.A98A BRMS1_uc001oho.1_Silent_p.A98A|BRMS1_uc009yre.2_5'Flank NM_015399 NP_056214 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 isoform 1 98 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding 0 TGTATTCAGGGGCTCTCTCAG 0.612000 SLC29A2 3177 broad.mit.edu 37 11 66131818 66131818 + Silent SNP G G A rs144983007 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:66131818G>A uc001oht.2 - 11 1366 c.1137C>T c.(1135-1137)CAC>CAT p.H379H SLC29A2_uc001ohs.2_Silent_p.H259H|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Silent_p.H259H|SLC29A2_uc001ohu.2_Silent_p.H379H|SLC29A2_uc001ohv.2_Missense_Mutation_p.R335C NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 379 Helical; (Potential). cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 TCTGGGGCACGTGGCACAGCA 0.607000 ADRBK1 156 broad.mit.edu 37 11 67051203 67051203 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:67051203T>C uc009yrn.1 + 16 1620 c.1354T>C c.(1354-1356)TTT>CTT p.F452L ADRBK1_uc009yrm.1_Intron NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 452 Protein kinase. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) AGAGAGCCCCTTTTTCCGCTC 0.532000 SHANK2 22941 broad.mit.edu 37 11 70338494 70338494 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:70338494C>T uc001oqc.2 - 18 2463 c.2385G>A c.(2383-2385)GCG>GCA p.A795A SHANK2_uc010rqn.1_Silent_p.A207A|SHANK2_uc001opz.2_Silent_p.A200A|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.A197A|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_Silent_p.A8A NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 416 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCTTGATGGTCGCCACCCTCG 0.652000 ARAP1 116985 broad.mit.edu 37 11 72408052 72408052 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:72408052G>A uc001osu.2 - 22 3331 c.3142C>T c.(3142-3144)CGC>TGC p.R1048C ARAP1_uc001osv.2_Missense_Mutation_p.R1048C|ARAP1_uc001osr.2_Missense_Mutation_p.R808C|ARAP1_uc001oss.2_Missense_Mutation_p.R803C|ARAP1_uc009yth.2_Missense_Mutation_p.R742C|ARAP1_uc010rre.1_Missense_Mutation_p.R803C NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1048 Rho-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 CAGGTTAGGCGCTGGGCGCGA 0.677000 KCTD14 65987 broad.mit.edu 37 11 77728068 77728068 + Silent SNP G G A rs143415219 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:77728068G>A uc001oyw.3 - 2 364 c.339C>T c.(337-339)TAC>TAT p.Y113Y NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 113 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) GCTTGATTTCGTAGAACTGAG 0.562000 ODZ4 26011 broad.mit.edu 37 11 78440668 78440668 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:78440668A>G uc001ozl.3 - 22 3622 c.3159T>C c.(3157-3159)TCT>TCC p.S1053S NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1053 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 AGCCAGAGATAGAGATTTCCT 0.582000 PCF11 51585 broad.mit.edu 37 11 82879875 82879875 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:82879875G>A uc001ozx.3 + 8 2843 c.2498G>A c.(2497-2499)CGG>CAG p.R833Q PCF11_uc010rsu.1_Missense_Mutation_p.R964Q NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 833 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 ACACCTCTGCGGTTTGAGGGC 0.552000 FZD4 8322 broad.mit.edu 37 11 86662733 86662733 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:86662733G>A uc001pce.2 - 2 1371 c.1065C>T c.(1063-1065)CCC>CCT p.P355P PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 355 Helical; Name=4; (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTTTCACTGCGGGGATGGCCC 0.478000 CCDC67 159989 broad.mit.edu 37 11 93088580 93088580 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:93088580A>G uc001pdq.2 + 3 173 c.73A>G c.(73-75)ATT>GTT p.I25V CCDC67_uc001pdo.1_Missense_Mutation_p.I25V|CCDC67_uc001pdp.2_Missense_Mutation_p.I25V NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 25 Potential. ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AATGGAACAAATTGACATCAT 0.388000 FOLR4 390243 broad.mit.edu 37 11 94040602 94040602 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:94040602G>T uc010rud.1 + 4 476 c.476G>T c.(475-477)TGC>TTC p.C159F NM_001080486 NP_001073955 A6ND01 FOLR4_HUMAN folate receptor 4 (delta) homolog 166 extracellular region folic acid binding|receptor activity ovary(1) 1 AAGAACCGCTGCCCCAAAGGG 0.597000 CASP5 838 broad.mit.edu 37 11 104872817 104872817 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:104872817T>C uc010rva.1 - 5 687 c.655A>G c.(655-657)ATG>GTG p.M219V CASP5_uc010ruz.1_Missense_Mutation_p.M232V|CASP5_uc010rvb.1_Missense_Mutation_p.M161V|CASP5_uc010rvc.1_Missense_Mutation_p.M77V|CASP5_uc009yxh.2_Missense_Mutation_p.M1V|CASP5_uc010rvd.1_Missense_Mutation_p.M1V NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 219 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AGCCTTTTCATCCCCACGATG 0.502000 KBTBD3 143879 broad.mit.edu 37 11 105924527 105924527 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:105924527T>C uc001pja.2 - 4 1529 c.889A>G c.(889-891)ATA>GTA p.I297V KBTBD3_uc001pjb.2_Missense_Mutation_p.I297V|KBTBD3_uc009yxm.2_Missense_Mutation_p.I218V NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 293 Kelch 1. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TGAATGAATATGTATTTCTCA 0.368000 SIK2 23235 broad.mit.edu 37 11 111594498 111594498 + Missense_Mutation SNP G G A rs34223841 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:111594498G>A uc001plt.2 + 15 2544 c.2426G>A c.(2425-2427)CGG>CAG p.R809Q NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 809 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 TCCGGTCCCCGGGCTGCTCCT 0.522000 BCO2 83875 broad.mit.edu 37 11 112064635 112064635 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:112064635G>A uc001pnf.2 + 4 668 c.551G>A c.(550-552)CGG>CAG p.R184Q BCO2_uc001pne.1_Missense_Mutation_p.R11Q|BCO2_uc001png.2_Intron|BCO2_uc001pnh.2_Missense_Mutation_p.R150Q|BCO2_uc010rwt.1_Missense_Mutation_p.R79Q|BCO2_uc009yyn.2_Missense_Mutation_p.R150Q|BCO2_uc001pni.2_Missense_Mutation_p.R150Q NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 184 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AACTATGTGCGGTACAAGGGT 0.393000 USP2 9099 broad.mit.edu 37 11 119230349 119230349 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:119230349G>A uc001pwm.3 - 4 1142 c.847C>T c.(847-849)CAG>TAG p.Q283* USP2_uc001pwl.3_Nonsense_Mutation_p.Q74*|USP2_uc001pwn.3_Nonsense_Mutation_p.Q40* NM_004205 NP_004196 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 isoform a 283 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity ovary(2)|urinary_tract(1)|skin(1) 4 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) CTCAGGCACTGCAGAATTGAG 0.547000 TRIM29 23650 broad.mit.edu 37 11 120008124 120008124 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:120008124C>T uc001pwz.2 - 1 740 c.616G>A c.(616-618)GCC>ACC p.A206T TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 206 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CGGAAGGCGGCGCCCTCCAGG 0.642000 TECTA 7007 broad.mit.edu 37 11 120980130 120980130 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:120980130G>A uc010rzo.1 + 3 409 c.409G>A c.(409-411)GCA>ACA p.A137T NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 137 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CAAAGACATGGCAACCTTCTC 0.458000 SORL1 6653 broad.mit.edu 37 11 121393349 121393349 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:121393349C>A uc001pxx.2 + 10 1539 c.1459C>A c.(1459-1461)CTC>ATC p.L487I NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 487 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GCTCCTCAACCTCCAGCTCCG 0.552000 ROBO3 64221 broad.mit.edu 37 11 124742441 124742441 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:124742441A>C uc001qbc.2 + 8 1515 c.1323A>C c.(1321-1323)ATA>ATC p.I441I NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 441 Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGCTGGAGATAAAAGGAGGTA 0.527000 VPS26B 112936 broad.mit.edu 37 11 134109914 134109914 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:134109914G>A uc001qhe.2 + 3 866 c.410G>A c.(409-411)CGC>CAC p.R137H NM_052875 NP_443107 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B 137 protein transport|vacuolar transport cytosol|retromer complex 0 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;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) ATCAGCCGCCGCCTCAATGAT 0.468000 CACNA2D4 93589 broad.mit.edu 37 12 1992068 1992068 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:1992068C>T uc001qjp.2 - 13 1681 c.1450G>A c.(1450-1452)GAC>AAC p.D484N CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.D372N NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 484 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAGATGATGTCGTGGTCGTGG 0.592000 KCNA1 3736 broad.mit.edu 37 12 5021641 5021641 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:5021641C>T uc001qnh.2 + 2 2202 c.1097C>T c.(1096-1098)GCG>GTG p.A366V NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 366 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTCTGGTGGGCGGTGGTGTCC 0.542000 KCNA1 3736 broad.mit.edu 37 12 5021769 5021769 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:5021769T>A uc001qnh.2 + 2 2330 c.1225T>A c.(1225-1227)TCC>ACC p.S409T NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 409 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGTCATTGTGTCCAATTTCAA 0.527000 CHD4 1108 broad.mit.edu 37 12 6687228 6687228 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:6687228C>A uc001qpo.2 - 36 5359 c.5195G>T c.(5194-5196)CGG>CTG p.R1732L CHD4_uc001qpn.2_Missense_Mutation_p.R1725L|CHD4_uc001qpp.2_Missense_Mutation_p.R1757L|uc001qpq.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1732 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GTAGTCATGCCGTCGATGCCA 0.473000 CHD4 1108 broad.mit.edu 37 12 6692034 6692034 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:6692034G>A uc001qpo.2 - 28 4380 c.4216C>T c.(4216-4218)CGT>TGT p.R1406C CHD4_uc001qpn.2_Missense_Mutation_p.R1399C|CHD4_uc001qpp.2_Missense_Mutation_p.R1431C|uc001qpq.1_Silent_p.T79T|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1406 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CCACCAACACGGGCCAACAGA 0.498000 ACRBP 84519 broad.mit.edu 37 12 6749371 6749371 + Missense_Mutation SNP C C T rs114920773 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:6749371C>T uc001qpu.1 - 8 1328 c.1280G>A c.(1279-1281)CGC>CAC p.R427H LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.R394H NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 427 acrosomal vesicle|extracellular region central_nervous_system(1) 1 CCCGTAAAAGCGGCCTGATTC 0.637000 CLSTN3 9746 broad.mit.edu 37 12 7303159 7303159 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:7303159G>A uc001qsr.2 + 15 2543 c.2265G>A c.(2263-2265)GTG>GTA p.V755V CLSTN3_uc001qss.2_Silent_p.V767V NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 755 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 GCATCACTGTGTATGAAGAGA 0.607000 GDF3 9573 broad.mit.edu 37 12 7842978 7842978 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:7842978A>T uc001qte.2 - 2 627 c.591T>A c.(589-591)AAT>AAA p.N197K NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 197 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 ATAACCCGAAATTTTTCCGGG 0.473000 TAS2R10 50839 broad.mit.edu 37 12 10978047 10978047 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:10978047T>G uc001qyy.1 - 1 822 c.822A>C c.(820-822)TCA>TCC p.S274S NM_023921 NP_076410 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 274 Helical; Name=7; (Potential). sensory perception of taste integral to membrane taste receptor activity 0 TTAAGATAAATGAGTGACCCC 0.413000 TAS2R14 50840 broad.mit.edu 37 12 11091290 11091290 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:11091290T>C uc010shi.1 - 1 517 c.517A>G c.(517-519)ACA>GCA p.T173A PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 173 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity 0 GAAAATCGTGTAAAGTTACTT 0.353000 WBP11 51729 broad.mit.edu 37 12 14944192 14944192 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:14944192C>T uc001rci.2 - 9 1087 c.926G>A c.(925-927)CGG>CAG p.R309Q NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 309 Interaction with PP1 (By similarity). mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 ATCTGCAAACCGTACACTCAG 0.428000 C12orf60 144608 broad.mit.edu 37 12 14975984 14975984 + Missense_Mutation SNP C C T rs150460169 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:14975984C>T uc001rcj.3 + 2 319 c.115C>T c.(115-117)CGC>TGC p.R39C NM_175874 NP_787070 Q5U649 CL060_HUMAN hypothetical protein LOC144608 39 ovary(1)|central_nervous_system(1) 2 ATTGTTTAGCCGCAGTATGAA 0.338000 PDE3A 5139 broad.mit.edu 37 12 20766597 20766597 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:20766597A>T uc001reh.1 + 3 1254 c.1232A>T c.(1231-1233)GAA>GTA p.E411V NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 411 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TCTGACTCTGAAGAGAGCTCT 0.428000 SLCO1B1 10599 broad.mit.edu 37 12 21391984 21391984 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:21391984C>T uc001req.3 + 15 2041 c.1937C>T c.(1936-1938)GCC>GTC p.A646V NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 646 Helical; Name=12; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) ttaatttatGCCATGAAGAAA 0.274000 ABCC9 10060 broad.mit.edu 37 12 22035805 22035805 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:22035805C>A uc001rfi.1 - 14 1934 c.1914G>T c.(1912-1914)CAG>CAT p.Q638H ABCC9_uc001rfh.2_Missense_Mutation_p.Q638H|ABCC9_uc001rfj.1_Intron NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 638 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAGTTTTTGGCTGCTGCATTC 0.403000 IFLTD1 160492 broad.mit.edu 37 12 25671789 25671789 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:25671789C>T uc001rgs.2 - 7 1216 c.1066G>A c.(1066-1068)GCT>ACT p.A356T IFLTD1_uc001rgt.1_Missense_Mutation_p.A259T|IFLTD1_uc010sji.1_Missense_Mutation_p.A377T|IFLTD1_uc010sjj.1_Missense_Mutation_p.A293T|IFLTD1_uc009zjc.2_Missense_Mutation_p.A337T NM_152590 NP_689803 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 356 intermediate filament structural molecule activity ovary(2)|central_nervous_system(1) 3 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) CTGCCTCCAGCGGTGGATGTA 0.522000 OREG0031252 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) ARID2 196528 broad.mit.edu 37 12 46245344 46245344 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:46245344G>A uc001ros.1 + 15 3438 c.3438G>A c.(3436-3438)TCG>TCA p.S1146S ARID2_uc001ror.2_Silent_p.S1146S|ARID2_uc009zkg.1_Silent_p.S602S|ARID2_uc009zkh.1_Silent_p.S773S|ARID2_uc001rou.1_Silent_p.S480S NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1146 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGCCCATTTCGAACTTACAAA 0.483000 GPD1 2819 broad.mit.edu 37 12 50501526 50501526 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:50501526T>C uc001rvz.2 + 6 822 c.789T>C c.(787-789)ACT>ACC p.T263T GPD1_uc001rwa.2_Silent_p.T240T NM_005276 NP_005267 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 263 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity 0 NADH(DB00157) ACCTGATCACTACCTGCTATG 0.597000 EIF4B 1975 broad.mit.edu 37 12 53413753 53413753 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:53413753T>C uc001sbh.3 + 4 626 c.420T>C c.(418-420)GGT>GGC p.G140G EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Silent_p.G140G|EIF4B_uc010snv.1_Intron|EIF4B_uc001sbi.2_5'UTR NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 140 RRM. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 AAGGTTTTGGTTATGCTGAAT 0.443000 ZBTB39 9880 broad.mit.edu 37 12 57398126 57398126 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:57398126G>A uc001sml.1 - 2 662 c.576C>T c.(574-576)GAC>GAT p.D192D RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 TATGGTTAGCGTCACTGGCAA 0.542000 LRP1 4035 broad.mit.edu 37 12 57570998 57570998 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:57570998C>A uc001snd.2 + 25 4632 c.4166C>A c.(4165-4167)CCA>CAA p.P1389Q NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1389 Extracellular (Potential).|LDL-receptor class B 9. 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 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) ATTGAGCACCCAAGGGCAATC 0.637000 METTL1 4234 broad.mit.edu 37 12 58162893 58162893 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:58162893C>A uc010ssd.1 - 6 765 c.717G>T c.(715-717)GAG>GAT p.E239D CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_3'UTR NM_005371 NP_005362 Q9UBP6 TRMB_HUMAN methyltransferase-like protein 1 isoform a 239 S-adenosyl-L-methionine binding. cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding 0 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) TCTTCCCCTCCTCAGTTGAGG 0.542000 LRIG3 121227 broad.mit.edu 37 12 59272641 59272641 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:59272641C>T uc001sqr.2 - 14 2294 c.2048G>A c.(2047-2049)GGA>GAA p.G683E LRIG3_uc009zqh.2_Missense_Mutation_p.G623E|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 683 Ig-like C2-type 2. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) TGAAATACTTCCTGCACTGTT 0.443000 GRIP1 23426 broad.mit.edu 37 12 66814553 66814553 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:66814553T>G uc001stk.2 - 14 1870 c.1629A>C c.(1627-1629)AAA>AAC p.K543N GRIP1_uc010sta.1_Missense_Mutation_p.K487N|GRIP1_uc001stj.2_Missense_Mutation_p.K325N|GRIP1_uc001stl.1_Missense_Mutation_p.K435N|GRIP1_uc001stm.2_Missense_Mutation_p.K543N NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 595 PDZ 5. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GGTCTCCTGGTTTTCTACTGG 0.368000 PTPRB 5787 broad.mit.edu 37 12 70948972 70948972 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:70948972T>A uc001swb.3 - 18 4487 c.4457A>T c.(4456-4458)AAA>ATA p.K1486I PTPRB_uc010sto.1_Missense_Mutation_p.K1396I|PTPRB_uc010stp.1_Missense_Mutation_p.K1396I|PTPRB_uc001swc.3_Missense_Mutation_p.K1704I|PTPRB_uc001swa.3_Missense_Mutation_p.K1616I NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1486 Fibronectin type-III 17.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGTGAAGTATTTCACAGCTCC 0.453000 PTPRR 5801 broad.mit.edu 37 12 71286586 71286586 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:71286586C>T uc001swi.1 - 2 646 c.230G>A c.(229-231)CGC>CAC p.R77H NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 77 Extracellular (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AATCTGGTGGCGTTTGCTTAC 0.448000 MYF6 4618 broad.mit.edu 37 12 81102715 81102715 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:81102715C>T uc001szf.1 + 3 758 c.705C>T c.(703-705)TGC>TGT p.C235C NM_002469 NP_002460 P23409 MYF6_HUMAN myogenic factor 6 235 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 AACTCCCCTGCGTGGAGGAAG 0.537000 STAB2 55576 broad.mit.edu 37 12 104015889 104015889 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:104015889G>T uc001tjw.2 + 5 673 c.487G>T c.(487-489)GTG>TTG p.V163L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 163 Extracellular (Potential).|EGF-like 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTGTTCATCAGGTATGTCTGA 0.428000 STAB2 55576 broad.mit.edu 37 12 104121068 104121068 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:104121068C>T uc001tjw.2 + 47 5061 c.4875C>T c.(4873-4875)GTC>GTT p.V1625V STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1625 Extracellular (Potential).|FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AAGATCTGGTCGGCCCAGGCC 0.527000 PRDM4 11108 broad.mit.edu 37 12 108128295 108128295 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:108128295G>A uc001tmp.2 - 12 2535 c.2098C>T c.(2098-2100)CGC>TGC p.R700C PRDM4_uc010sww.1_Missense_Mutation_p.R107C|PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 700 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 TTGATCTGGCGTTCTCTAAGA 0.403000 PRDM4 11108 broad.mit.edu 37 12 108134747 108134747 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:108134747G>A uc001tmp.2 - 10 2337 c.1900C>T c.(1900-1902)CGG>TGG p.R634W PRDM4_uc010sww.1_Missense_Mutation_p.R41W|PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 634 C2H2-type 2. cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 AGGTGGGTCCGCAGGTTGCTG 0.448000 GLTP 51228 broad.mit.edu 37 12 110293442 110293442 + Silent SNP G G A rs138733952 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:110293442G>A uc001tpm.2 - 4 543 c.429C>T c.(427-429)ATC>ATT p.I143I GLTP_uc010sxt.1_RNA NM_016433 NP_057517 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 143 cytoplasm glycolipid binding|glycolipid transporter activity 0 Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122) BRCA - Breast invasive adenocarcinoma(302;0.0025) TCTTCTGCACGATCCAGCCAT 0.617000 PPP1CC 5501 broad.mit.edu 37 12 111158936 111158936 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:111158936G>T uc001tru.2 - 7 1162 c.917C>A c.(916-918)GCC>GAC p.A306D NM_002710 NP_002701 P36873 PP1G_HUMAN protein phosphatase 1, catalytic subunit, gamma 306 cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity p.A306S(1) lung(2)|central_nervous_system(1) 3 AGGTCTCGTGGCATTTGGCTT 0.393000 SH2B3 10019 broad.mit.edu 37 12 111884789 111884789 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:111884789A>G uc001tse.2 + 4 1235 c.878A>G c.(877-879)CAG>CGG p.Q293R SH2B3_uc010syf.1_Missense_Mutation_p.Q293R|SH2B3_uc001tsf.2_Missense_Mutation_p.Q293R|SH2B3_uc010syg.1_Missense_Mutation_p.Q91R NM_005475 NP_005466 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 293 PH. blood coagulation cytosol signal transducer activity ovary(1) 1 GGAGACGAGCAGCAGCTGAAT 0.577000 ACAD10 80724 broad.mit.edu 37 12 112186136 112186136 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:112186136G>A uc001tsq.2 + 17 2701 c.2501G>A c.(2500-2502)CGT>CAT p.R834H ACAD10_uc001tsp.2_Missense_Mutation_p.R834H|ACAD10_uc009zvx.2_Missense_Mutation_p.R865H|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 834 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 CTGGATCCTCGTTGCCAACTC 0.532000 C12orf51 283450 broad.mit.edu 37 12 112650376 112650376 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:112650376T>C uc009zwc.2 - 42 6296 c.6278A>G c.(6277-6279)TAC>TGC p.Y2093C C12orf51_uc001ttr.1_Missense_Mutation_p.Y268C NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GTATGTGAAGTACACCCGGCC 0.562000 SRRM4 84530 broad.mit.edu 37 12 119594447 119594447 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:119594447A>C uc001txa.1 + 13 1972 c.1680A>C c.(1678-1680)AGA>AGC p.R560S NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 560 Ser-rich.|Arg-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 ggagccggagacggagccgga 0.423000 RPLP0 6175 broad.mit.edu 37 12 120636777 120636777 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:120636777G>T uc001txp.2 - 5 582 c.345C>A c.(343-345)GCC>GCA p.A115A RPLP0_uc001txq.2_Silent_p.A115A|RPLP0_uc001txr.2_Silent_p.A115A|uc001txs.1_5'Flank NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 115 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGGGGCAATGGCACCAGCAC 0.517000 RNF10 9921 broad.mit.edu 37 12 121002881 121002881 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:121002881C>T uc001typ.3 + 11 2155 c.1672C>T c.(1672-1674)CGA>TGA p.R558* RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Nonsense_Mutation_p.R469* NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 558 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTAGGATGTTCGACAGCGTCA 0.453000 SBNO1 55206 broad.mit.edu 37 12 123782547 123782547 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:123782547C>T uc010tap.1 - 30 4017 c.4017G>A c.(4015-4017)ACG>ACA p.T1339T SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.T1338T|SBNO1_uc010taq.1_Silent_p.T290T NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1339 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GCCCATCTTCCGTTCTTAGCC 0.428000 UBC 7316 broad.mit.edu 37 12 125397684 125397684 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:125397684T>C uc001ugs.3 - 2 1082 c.634A>G c.(634-636)AAC>GAC p.N212D UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.N212D|UBC_uc001ugt.2_Missense_Mutation_p.N212D|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.N60D NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 212 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TTCTGGATGTTGTAGTCAGAC 0.498000 ANKLE2 23141 broad.mit.edu 37 12 133331306 133331306 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:133331306A>G uc001ukx.2 - 2 662 c.595T>C c.(595-597)TAC>CAC p.Y199H ANKLE2_uc001uky.3_Missense_Mutation_p.Y137H NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 199 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) ACCCCATAGTACAGGGGCGGC 0.577000 EFHA1 221154 broad.mit.edu 37 13 22141028 22141028 + Missense_Mutation SNP C C T rs138030448 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:22141028C>T uc001uof.2 - 2 288 c.266G>A c.(265-267)CGC>CAC p.R89H NM_152726 NP_689939 Q8IYU8 EFHA1_HUMAN EF-hand domain family, member A1 89 calcium ion binding 0 all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189) CTGCATGAAGCGCTGCTTACG 0.348000 ATP12A 479 broad.mit.edu 37 13 25265211 25265211 + Silent SNP G G A rs61739266 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:25265211G>A uc001upp.2 + 8 1078 c.891G>A c.(889-891)ACG>ACA p.T297T ATP12A_uc010aaa.2_Silent_p.T303T NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 297 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) ATGAGAAGACGCCCATTGCCA 0.522000 NUPL1 9818 broad.mit.edu 37 13 25882001 25882001 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:25882001T>C uc001uqi.2 + 2 411 c.165T>C c.(163-165)ACT>ACC p.T55T NUPL1_uc001uqg.1_Silent_p.T55T|NUPL1_uc001uqj.2_Silent_p.T55T NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 55 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) CTCCAGCAACTACATCTGCTC 0.423000 MTUS2 23281 broad.mit.edu 37 13 29855999 29855999 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:29855999G>A uc001usl.3 + 4 2891 c.2833G>A c.(2833-2835)GCT>ACT p.A945T NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 935 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TTCCACACCCGCTGGTAAGAC 0.542000 ENOX1 55068 broad.mit.edu 37 13 43930092 43930092 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:43930092C>T uc001uza.3 - 8 1086 c.786G>A c.(784-786)TCG>TCA p.S262S ENOX1_uc001uzb.3_Silent_p.S262S|ENOX1_uc001uzc.3_Silent_p.S262S|ENOX1_uc001uyz.3_5'UTR|ENOX1_uc010tfm.1_Silent_p.S75S NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 262 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CTTCGTGCTCCGAGTAGTGCA 0.637000 SLC25A30 253512 broad.mit.edu 37 13 45983139 45983139 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:45983139C>A uc001vag.2 - 3 272 c.135G>T c.(133-135)AAG>AAT p.K45N SLC25A30_uc010tfs.1_Intron|SLC25A30_uc001vah.2_Intron|SLC25A30_uc010tft.1_Translation_Start_Site NM_001010875 NP_001010875 Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 45 Solcar 1. mitochondrial transport integral to membrane|mitochondrial inner membrane binding breast(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) ATCTAATTTCCTTAAATTTTG 0.398000 PCDH8 5100 broad.mit.edu 37 13 53422116 53422116 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:53422116C>T uc001vhi.2 - 1 659 c.456G>A c.(454-456)ACG>ACA p.T152T PCDH8_uc001vhj.2_Silent_p.T152T NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 152 Extracellular (Potential).|Cadherin 2. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) AGGGGATGCGCGTGCCCACTG 0.711000 SLITRK5 26050 broad.mit.edu 37 13 88330333 88330333 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:88330333G>A uc001vln.2 + 2 2909 c.2690G>A c.(2689-2691)CGC>CAC p.R897H SLITRK5_uc010tic.1_Missense_Mutation_p.R656H NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 897 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GACCTGAGACGCCCCCATCAG 0.617000 FAM155A 728215 broad.mit.edu 37 13 108518596 108518596 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:108518596C>T uc001vql.2 - 1 865 c.349G>A c.(349-351)GCC>ACC p.A117T NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 117 integral to membrane binding skin(1) 1 TGTGCCTGGGCGGCGGGCGAG 0.562000 MCF2L 23263 broad.mit.edu 37 13 113740490 113740490 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:113740490C>T uc001vsu.2 + 21 2493 c.2471C>T c.(2470-2472)GCG>GTG p.A824V MCF2L_uc001vsq.2_Missense_Mutation_p.A824V|MCF2L_uc010tjr.1_Missense_Mutation_p.A767V|MCF2L_uc001vsr.2_Missense_Mutation_p.A771V|MCF2L_uc001vss.3_Missense_Mutation_p.A765V|MCF2L_uc010tjs.1_Missense_Mutation_p.A765V|MCF2L_uc001vst.1_Missense_Mutation_p.A729V NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 797 DH. 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|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CTGCAGGAGGCGCTGAGCTCC 0.627000 ATP4B 496 broad.mit.edu 37 13 114312428 114312428 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:114312428C>T uc001vtz.2 - 1 74 c.32G>A c.(31-33)GGC>GAC p.G11D ATP4B_uc010agy.1_Missense_Mutation_p.G11D NM_000705 NP_000696 P51164 ATP4B_HUMAN hydrogen/potassium-exchanging ATPase 4B 11 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) CATGCGCTGGCCACACGTCTT 0.677000 FAM70B 348013 broad.mit.edu 37 13 114504642 114504642 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:114504642G>A uc001vuh.2 + 7 553 c.526G>A c.(526-528)GCC>ACC p.A176T NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 176 integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) GCCCTCGCCCGCCTACTATGA 0.632000 TEP1 7011 broad.mit.edu 37 14 20842664 20842664 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:20842664A>G uc001vxe.2 - 44 6435 c.6395T>C c.(6394-6396)CTC>CCC p.L2132P TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.2_Missense_Mutation_p.L1475P|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.L2024P|TEP1_uc010tlh.1_Missense_Mutation_p.L470P NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 2132 WD 12. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGGGTCCCAGAGCCCCACAGA 0.537000 METT11D1 64745 broad.mit.edu 37 14 21464375 21464375 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:21464375A>G uc001vyn.2 + 12 1201 c.1004A>G c.(1003-1005)CAT>CGT p.H335R METT11D1_uc001vym.2_Missense_Mutation_p.H335R|METT11D1_uc001vyo.2_Missense_Mutation_p.H335R|METT11D1_uc001vyp.2_Missense_Mutation_p.H177R|METT11D1_uc001vyq.2_Missense_Mutation_p.H177R NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform 335 translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) CAGTGTCCCCATGAACTCCCT 0.478000 SUPT16H 11198 broad.mit.edu 37 14 21833073 21833073 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:21833073T>C uc001wao.2 - 10 1485 c.1146A>G c.(1144-1146)GGA>GGG p.G382G NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 382 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GGTCTGAGAATCCTAAATTGA 0.428000 PRMT5 10419 broad.mit.edu 37 14 23392040 23392040 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:23392040T>C uc001whm.1 - 14 1581 c.1490A>G c.(1489-1491)CAG>CGG p.Q497R PRMT5_uc001whl.1_Missense_Mutation_p.Q480R|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.Q391R|PRMT5_uc010tng.1_Missense_Mutation_p.Q436R|PRMT5_uc010tnh.1_Missense_Mutation_p.Q453R|PRMT5_uc001whn.1_Missense_Mutation_p.Q326R NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 497 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) CATCTCAAACTGGGCCTGTCA 0.483000 LRRC16B 90668 broad.mit.edu 37 14 24534215 24534215 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:24534215G>A uc001wlj.2 + 33 3286 c.3129G>A c.(3127-3129)CCG>CCA p.P1043P LRRC16B_uc001wlk.2_Silent_p.P139P NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1043 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) CGGAGGCACCGCTGCCTCCAC 0.647000 RNF31 55072 broad.mit.edu 37 14 24619997 24619997 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:24619997G>A uc001wmn.1 + 8 1637 c.1388G>A c.(1387-1389)CGA>CAA p.R463Q RNF31_uc001wml.1_Missense_Mutation_p.R312Q|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R278Q|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 463 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) GGGCCCCCACGACGCCTTAGT 0.612000 CTSG 1511 broad.mit.edu 37 14 25042973 25042973 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:25042973C>G uc001wpq.2 - 5 675 c.638G>C c.(637-639)GGC>GCC p.G213A NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 213 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) GGAGACGATGCCGTGGGCCAC 0.557000 MIA2 117153 broad.mit.edu 37 14 39722040 39722040 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:39722040G>A uc001wux.2 + 5 1850 c.1656G>A c.(1654-1656)TCG>TCA p.S552S NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ATGAAAATTCGAAACCATCAG 0.378000 LRFN5 145581 broad.mit.edu 37 14 42356114 42356114 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:42356114G>A uc001wvm.2 + 3 1484 c.286G>A c.(286-288)GCT>ACT p.A96T LRFN5_uc010ana.2_Missense_Mutation_p.A96T NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 96 Extracellular (Potential).|LRR 2. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TCATGCTTTCGCTGACCTACG 0.348000 HNSCC(30;0.082) SOS2 6655 broad.mit.edu 37 14 50616749 50616749 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:50616749T>C uc001wxs.3 - 14 2459 c.2361A>G c.(2359-2361)ACA>ACG p.T787T SOS2_uc010tql.1_Silent_p.T754T|SOS2_uc010tqm.1_RNA NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 787 Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) ACTCCAAAAGTGTCAGCTGAC 0.353000 BMP4 652 broad.mit.edu 37 14 54417102 54417102 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:54417102C>T uc001xal.3 - 3 1062 c.875G>A c.(874-876)CGT>CAT p.R292H BMP4_uc010aoh.2_Missense_Mutation_p.R292H|BMP4_uc001xao.3_Missense_Mutation_p.R292H|BMP4_uc001xan.3_Missense_Mutation_p.R292H NM_130851 NP_570912 P12644 BMP4_HUMAN bone morphogenetic protein 4 preproprotein 292 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity 0 CTTAGGGCTACGCTTGGCCCT 0.627000 NAA30 122830 broad.mit.edu 37 14 57863536 57863536 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:57863536C>T uc001xcx.3 + 3 992 c.838C>T c.(838-840)CGC>TGC p.R280C NAA30_uc010trk.1_Missense_Mutation_p.R22C|NAA30_uc010aow.2_RNA NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN N-acetyltransferase 12 280 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity skin(1) 1 AAAGATGTTCCGCAGAGGTTA 0.373000 C14orf135 64430 broad.mit.edu 37 14 60582091 60582091 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:60582091G>A uc001xer.3 + 3 1089 c.567G>A c.(565-567)CCG>CCA p.P189P C14orf135_uc001xeq.2_Silent_p.P189P|C14orf135_uc010apm.2_5'Flank NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 423 integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) CCTTTTATCCGAAGGATGTGC 0.353000 TRMT5 57570 broad.mit.edu 37 14 61446378 61446378 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:61446378G>A uc001xff.3 - 2 329 c.238C>T c.(238-240)CGA>TGA p.R80* 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 80 cytoplasm tRNA (guanine-N1-)-methyltransferase activity central_nervous_system(2)|large_intestine(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0873) GTCATGCCTCGGACATCAGAA 0.378000 SYT16 83851 broad.mit.edu 37 14 62567283 62567283 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:62567283G>A uc001xfu.1 + 6 1993 c.1796G>A c.(1795-1797)CGT>CAT p.R599H SYT16_uc010tse.1_Missense_Mutation_p.R157H NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 599 C2 2. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TATAACAGGCGTACTATGAAG 0.488000 SYNE2 23224 broad.mit.edu 37 14 64469920 64469920 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:64469920T>G uc001xgm.2 + 30 4499 c.4269T>G c.(4267-4269)ACT>ACG p.T1423T SYNE2_uc001xgl.2_Silent_p.T1423T NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1423 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) AGGAATTCACTGAGGAAAACA 0.373000 GPHN 10243 broad.mit.edu 37 14 67578617 67578617 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:67578617C>T uc001xiy.2 + 14 2475 c.1354C>T c.(1354-1356)CGG>TGG p.R452W GPHN_uc001xix.2_Missense_Mutation_p.R485W|GPHN_uc010tss.1_Missense_Mutation_p.R498W|GPHN_uc010tst.1_Missense_Mutation_p.R421W|GPHN_uc010tsu.1_Missense_Mutation_p.R375W NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 452 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) GGTGCAAGCTCGGCCAGGCCA 0.383000 T MLL AL PAPLN 89932 broad.mit.edu 37 14 73718836 73718836 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:73718836G>A uc010ttx.1 + 9 1117 c.954G>A c.(952-954)GCG>GCA p.A318A PAPLN_uc001xnw.3_Silent_p.A291A|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.A318A NM_173462 NP_775733 O95428 PPN_HUMAN papilin 318 TSP type-1 2. 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) ACTGCAGCGCGGAGTGTGGCG 0.697000 HEATR4 399671 broad.mit.edu 37 14 73989272 73989272 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:73989272A>G uc010tub.1 - 3 907 c.585T>C c.(583-585)CCT>CCC p.P195P HEATR4_uc010tua.1_Silent_p.P148P NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CCTCCTTCTCAGGAGGCAGAA 0.592000 C14orf115 55237 broad.mit.edu 37 14 74823805 74823805 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:74823805C>T uc001xpw.3 + 2 510 c.319C>T c.(319-321)CGC>TGC p.R107C NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 107 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) GCTGCGGGCCCGCACCGTGGT 0.642000 LTBP2 4053 broad.mit.edu 37 14 74978021 74978021 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:74978021G>A uc001xqa.2 - 19 3342 c.2955C>T c.(2953-2955)TGC>TGT p.C985C NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 985 EGF-like 7; calcium-binding (Potential).|Cys-rich. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGGAATTGACGCATCTCCCAT 0.592000 ALKBH1 8846 broad.mit.edu 37 14 78146294 78146294 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:78146294G>A uc001xuc.1 - 4 484 c.475C>T c.(475-477)CGG>TGG p.R159W ALKBH1_uc001xud.1_RNA NM_006020 NP_006011 Q13686 ALKB1_HUMAN alkylated DNA repair protein alkB homolog 159 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1)|skin(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CGGGGTCTCCGTTTAGTCGCT 0.398000 STON2 85439 broad.mit.edu 37 14 81743821 81743821 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:81743821G>A uc010tvu.1 - 4 2035 c.1834C>T c.(1834-1836)CGC>TGC p.R612C STON2_uc001xvk.1_Missense_Mutation_p.R612C|STON2_uc010tvt.1_Missense_Mutation_p.R409C NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 612 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGGCCCAGGCGGCACTCTGCG 0.517000 FOXN3 1112 broad.mit.edu 37 14 89628970 89628970 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:89628970G>A uc001xxo.3 - 7 1398 c.1261C>T c.(1261-1263)CGC>TGC p.R421C FOXN3_uc001xxn.3_Missense_Mutation_p.R399C|FOXN3_uc010atk.2_Missense_Mutation_p.R399C NM_001085471 NP_001078940 O00409 FOXN3_HUMAN checkpoint suppressor 1 isoform 1 421 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(2)|ovary(1) 3 AAGTGCTGGCGCTTCTTGTGC 0.612000 CCDC88C 440193 broad.mit.edu 37 14 91787575 91787575 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:91787575A>G uc010aty.2 - 13 1515 c.1416T>C c.(1414-1416)AAT>AAC p.N472N NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 472 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) GGAGGCTCTGATTCTCCTTCT 0.597000 ATXN3 4287 broad.mit.edu 37 14 92560113 92560113 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:92560113A>G uc001yac.3 - 4 366 c.297T>C c.(295-297)TAT>TAC p.Y99Y ATXN3_uc010aug.2_Silent_p.Y84Y|ATXN3_uc001yad.3_Silent_p.Y44Y|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 99 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) TGAGCCTCTGATACTCTGGAC 0.328000 KIAA1409 57578 broad.mit.edu 37 14 94044213 94044213 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:94044213G>A uc001ybv.1 + 15 1789 c.1706G>A c.(1705-1707)CGA>CAA p.R569Q KIAA1409_uc001ybs.1_Missense_Mutation_p.R569Q NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 746 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GATCCTGGCCGACGAGTTCAG 0.443000 BCL11B 64919 broad.mit.edu 37 14 99641438 99641438 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:99641438C>T uc001yga.2 - 4 2002 c.1735G>A c.(1735-1737)GCG>ACG p.A579T BCL11B_uc001ygb.2_Missense_Mutation_p.A508T NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 579 Gly-rich. 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) ccgccccccgcgcccgggacc 0.552000 T TLX3 T-ALL HHIPL1 84439 broad.mit.edu 37 14 100119154 100119154 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:100119154C>T uc010avs.2 + 2 914 c.849C>T c.(847-849)AGC>AGT p.S283S HHIPL1_uc001ygl.1_Silent_p.S283S NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 283 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) TCCGCATCAGCGAGTTCAGAG 0.617000 AHNAK2 113146 broad.mit.edu 37 14 105418203 105418203 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:105418203G>A uc010axc.1 - 7 3705 c.3585C>T c.(3583-3585)GCC>GCT p.A1195A AHNAK2_uc001ypx.2_Silent_p.A1095A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1195 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GACTCACGTCGGCCTCCACTT 0.622000 MAGEL2 54551 broad.mit.edu 37 15 23890708 23890708 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:23890708G>A uc001ywj.3 - 1 468 c.373C>T c.(373-375)CGC>TGC p.R125C NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GAGCCCCTGCGGTCTATAGAA 0.597000 OCA2 4948 broad.mit.edu 37 15 28273201 28273201 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:28273201G>A uc001zbh.3 - 4 441 c.331C>T c.(331-333)CGG>TGG p.R111W OCA2_uc010ayv.2_Missense_Mutation_p.R111W NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 111 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GGTATGCACCGTGACCTGGAA 0.488000 Oculocutaneous_Albinism OTUD7A 161725 broad.mit.edu 37 15 31822980 31822980 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:31822980C>T uc001zfq.2 - 4 675 c.582G>A c.(580-582)ACG>ACA p.T194T OTUD7A_uc001zfr.2_Silent_p.T194T NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 194 Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GTTTACAGCTCGTGCACACAG 0.547000 OTUD7A 161725 broad.mit.edu 37 15 31823008 31823008 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:31823008C>T uc001zfq.2 - 4 647 c.554G>A c.(553-555)CGC>CAC p.R185H OTUD7A_uc001zfr.2_Missense_Mutation_p.R185H NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 185 Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CCAGTTCAGGCGACCTGGAAA 0.517000 GJD2 57369 broad.mit.edu 37 15 35044979 35044979 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:35044979G>A uc001zis.1 - 2 666 c.666C>T c.(664-666)GGC>GGT p.G222G uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 222 Extracellular (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GGACACTAAAGCCATAGAGAA 0.488000 SPRED1 161742 broad.mit.edu 37 15 38643327 38643327 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:38643327T>C uc001zka.3 + 7 1132 c.797T>C c.(796-798)ATG>ACG p.M266T NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 266 KBD. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CATCCTGACATGTGGAAAAAT 0.393000 Legius_syndrome BUB1B 701 broad.mit.edu 37 15 40468681 40468681 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:40468681C>T uc001zkx.3 + 5 600 c.388C>T c.(388-390)CGT>TGT p.R130C BUB1B_uc010ucl.1_5'UTR NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 130 BUB1 N-terminal. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GTTACAGGGGCGTTTATGCAA 0.398000 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome IVD 3712 broad.mit.edu 37 15 40703479 40703479 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:40703479C>T uc001zls.3 + 5 820 c.486C>T c.(484-486)ATC>ATT p.I162I IVD_uc001zlq.2_Silent_p.I132I NM_002225 NP_002216 P26440 IVD_HUMAN isovaleryl Coenzyme A dehydrogenase isoform 1 159 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity ovary(1) 1 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-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;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) GTGAGTACATCGGAGCCCTGG 0.532000 MGA 23269 broad.mit.edu 37 15 42032360 42032360 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:42032360G>T uc010ucy.1 + 14 4725 c.4544G>T c.(4543-4545)GGG>GTG p.G1515V MGA_uc010ucz.1_Missense_Mutation_p.G1515V|MGA_uc010uda.1_Missense_Mutation_p.G131V NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1515 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AATCGCCCTGGGAAGAATCTG 0.512000 SPTBN5 51332 broad.mit.edu 37 15 42167792 42167792 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:42167792G>T uc001zos.2 - 22 4379 c.4046C>A c.(4045-4047)CCC>CAC p.P1349H NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1384 Spectrin 10. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTGGCCACAGGGCCTCCTACT 0.597000 MYO9A 4649 broad.mit.edu 37 15 72146864 72146864 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:72146864C>T uc002atl.3 - 35 6673 c.6200G>A c.(6199-6201)CGT>CAT p.R2067H MYO9A_uc002atj.2_5'UTR|MYO9A_uc002atk.2_Missense_Mutation_p.R862H NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 2067 Tail.|Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 ACTGGTCAAACGGGACAGTTC 0.368000 PML 5371 broad.mit.edu 37 15 74325013 74325013 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:74325013T>C uc002awv.2 + 5 1495 c.1355T>C c.(1354-1356)GTG>GCG p.V452A PML_uc002awm.2_Missense_Mutation_p.V452A|PML_uc002awl.2_Intron|PML_uc002awj.1_Intron|PML_uc002awk.2_Missense_Mutation_p.V452A|PML_uc002awn.2_Missense_Mutation_p.V452A|PML_uc002awo.2_Intron|PML_uc002awp.2_Intron|PML_uc002awq.2_Missense_Mutation_p.V452A|PML_uc002awr.2_Missense_Mutation_p.V452A|PML_uc002aws.2_Intron|PML_uc002awt.2_Intron|PML_uc002awu.2_Intron|PML_uc010ule.1_Missense_Mutation_p.V13A|PML_uc002awx.2_Intron|PML_uc002awy.2_Intron NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 452 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 GCACACCCCGTGCCAGTGTAC 0.627000 T RARA|PAX5 APL|ALL ADAMTS7 11173 broad.mit.edu 37 15 79059752 79059752 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:79059752G>A uc002bej.3 - 18 3039 c.2828C>T c.(2827-2829)CCG>CTG p.P943L ADAMTS7_uc010und.1_Intron NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 943 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CCAGGTGGCCGGACAGGGTAC 0.657000 ADAMTS7 11173 broad.mit.edu 37 15 79089073 79089073 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:79089073C>T uc002bej.3 - 4 889 c.678G>A c.(676-678)CGG>CGA p.R226R ADAMTS7_uc010und.1_Silent_p.R226R|ADAMTS7_uc002bek.1_Silent_p.R226R NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 226 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 gccgtggccgccgccactgct 0.433000 ADAMTS7 11173 broad.mit.edu 37 15 79090417 79090417 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:79090417A>G uc002bej.3 - 3 706 c.495T>C c.(493-495)ATT>ATC p.I165I ADAMTS7_uc010und.1_Silent_p.I165I|ADAMTS7_uc002bek.1_Silent_p.I165I NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 165 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CCAGGGGCTCAATGAAGTAGT 0.642000 ARNT2 9915 broad.mit.edu 37 15 80885987 80885987 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:80885987A>G uc002bfr.2 + 19 2268 c.2102A>G c.(2101-2103)TAT>TGT p.Y701C ARNT2_uc010unm.1_Missense_Mutation_p.Y690C|ARNT2_uc002bfs.2_Missense_Mutation_p.Y690C NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 701 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) ACTGGCAACTATAACATCGAA 0.567000 FANCI 55215 broad.mit.edu 37 15 89807836 89807836 + Silent SNP C C T rs151169233 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:89807836C>T uc010bnp.1 + 9 843 c.753C>T c.(751-753)GAC>GAT p.D251D FANCI_uc002bnm.1_Silent_p.D251D|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Silent_p.D251D|FANCI_uc002bnp.1_Silent_p.D72D NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 251 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) AGAGTGGTGACGAGTGAGTAA 0.363000 Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia C15orf58 390637 broad.mit.edu 37 15 90785087 90785087 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:90785087G>A uc002bpc.2 + 4 1126 c.947G>A c.(946-948)CGG>CAG p.R316Q NM_001013657 NP_001013679 Q6ZNW5 VTC2_HUMAN hypothetical protein LOC390637 316 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity 0 CTGTGGGCCCGGAAGTCCAGC 0.557000 IGF1R 3480 broad.mit.edu 37 15 99452112 99452112 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:99452112C>T uc002bul.2 + 6 1496 c.1446C>T c.(1444-1446)AAC>AAT p.N482N IGF1R_uc010urq.1_Silent_p.N482N|IGF1R_uc010bon.2_Silent_p.N482N|IGF1R_uc010urr.1_5'Flank NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 482 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CCAGGAACAACGGGGAGAGAG 0.512000 TM2D3 80213 broad.mit.edu 37 15 102182749 102182749 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:102182749G>A uc002bxi.2 - 6 707 c.677C>T c.(676-678)ACG>ATG p.T226M TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_Missense_Mutation_p.T161M|TM2D3_uc002bxj.2_Missense_Mutation_p.T200M|TM2D3_uc002bxk.2_Missense_Mutation_p.T161M NM_078474 NP_510883 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 isoform a 226 Helical; (Potential). integral to membrane ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTCTATCAGCGTCCATATTCC 0.557000 PDIA2 64714 broad.mit.edu 37 16 335551 335551 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:335551C>T uc002cgn.1 + 12 2075 c.967C>T c.(967-969)CTG>TTG p.L323L PDIA2_uc010bqt.1_Silent_p.L168L|PDIA2_uc002cgo.1_Silent_p.L323L NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 323 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TGAGCACGTGCTGCAGTACTT 0.627000 RHBDL1 9028 broad.mit.edu 37 16 726836 726836 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:726836C>T uc002cis.1 + 2 588 c.561C>T c.(559-561)TAC>TAT p.Y187Y RHBDL1_uc002cir.1_Silent_p.Y122Y|RHBDL1_uc010uun.1_Silent_p.Y122Y NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 187 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) GCCGCTGGTACTTCTACCGTC 0.687000 WDR24 84219 broad.mit.edu 37 16 737628 737628 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:737628C>T uc002ciz.1 - 2 1353 c.593G>A c.(592-594)CGG>CAG p.R198Q NM_032259 NP_115635 Q96S15 WDR24_HUMAN WD repeat domain 24 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(1)|central_nervous_system(1) 2 Hepatocellular(780;0.0218) CCTCTCGCACCGGTCGGGACG 0.627000 CACNA1H 8912 broad.mit.edu 37 16 1270310 1270310 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:1270310C>T uc002cks.2 + 35 6626 c.6378C>T c.(6376-6378)GCC>GCT p.A2126A CACNA1H_uc002ckt.2_Silent_p.A2120A|CACNA1H_uc002cku.2_Silent_p.A821A|CACNA1H_uc010brj.2_Silent_p.A837A|CACNA1H_uc002ckv.2_Silent_p.A815A NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 2126 Cytoplasmic (Potential). 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) CTCCGGTGGCCGGCGGCGAGC 0.736000 CLCN7 1186 broad.mit.edu 37 16 1524892 1524892 + Silent SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:1524892C>G uc002clv.2 - 1 194 c.84G>C c.(82-84)GCG>GCC p.A28A CLCN7_uc002clw.2_Silent_p.A28A NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 28 Cytoplasmic (By similarity). integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) CGCCGGGCCGCGCCGTCCTCC 0.771000 PKD1 5310 broad.mit.edu 37 16 2140034 2140034 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:2140034G>A uc002cos.1 - 46 12815 c.12606C>T c.(12604-12606)GGC>GGT p.G4202G PKD1_uc002cot.1_Silent_p.G4201G NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 4202 Cytoplasmic (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 TCCCCAGCCGGCCCAGGCTCA 0.682000 CASKIN1 57524 broad.mit.edu 37 16 2229836 2229836 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:2229836C>T uc010bsg.1 - 18 3565 c.3533G>A c.(3532-3534)CGC>CAC p.R1178H NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 1178 Pro-rich. signal transduction cytoplasm skin(2) 2 CGGTCGGCGGCGCACGGTGCC 0.726000 MLST8 64223 broad.mit.edu 37 16 2256622 2256622 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:2256622G>A uc002coz.2 + 4 425 c.306G>A c.(304-306)ACG>ACA p.T102T MLST8_uc002coy.2_Silent_p.T102T|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Silent_p.T101T|MLST8_uc010uvx.1_Silent_p.T36T|MLST8_uc002cpc.2_Silent_p.T102T|MLST8_uc002cpd.2_Silent_p.T36T|MLST8_uc002cpe.2_Silent_p.T102T|MLST8_uc010uvy.1_Silent_p.T102T|MLST8_uc002cpg.2_Silent_p.T121T|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Silent_p.T102T NM_022372 NP_071767 Q9BVC4 LST8_HUMAN G protein beta subunit-like 102 WD 3. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding 0 GGATGTACACGGGCGGCGAGG 0.622000 E4F1 1877 broad.mit.edu 37 16 2282763 2282763 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:2282763G>A uc002cpm.2 + 6 785 c.737G>A c.(736-738)CGC>CAC p.R246H E4F1_uc010bsi.2_Missense_Mutation_p.R246H|E4F1_uc010bsj.2_Missense_Mutation_p.R246H NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 246 Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GCAGATGAGCGCCCCTACAAG 0.642000 CREBBP 1387 broad.mit.edu 37 16 3828749 3828749 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:3828749G>T uc002cvv.2 - 9 2097 c.1893C>A c.(1891-1893)GCC>GCA p.A631A CREBBP_uc002cvw.2_Silent_p.A593A NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 631 KIX. 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) TCTTAGCATAGGCTACCAGGT 0.502000 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome USP7 7874 broad.mit.edu 37 16 8988969 8988969 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:8988969A>G uc002czl.2 - 28 3157 c.2958T>C c.(2956-2958)AAT>AAC p.N986N USP7_uc010uyk.1_Silent_p.N887N|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.N887N|USP7_uc002czk.2_Silent_p.N970N NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 986 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 CAAGCATCTCATTCTCTTTGT 0.493000 C16orf72 29035 broad.mit.edu 37 16 9210617 9210617 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:9210617A>C uc002czm.2 + 4 1041 c.676A>C c.(676-678)AGA>CGA p.R226R NM_014117 NP_054836 Q14CZ0 CP072_HUMAN hypothetical protein LOC29035 226 large_intestine(1) 1 TAGTCGAAGGAGAAATGGACT 0.478000 RBBP6 5930 broad.mit.edu 37 16 24581781 24581781 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:24581781G>A uc002dmh.2 + 17 4810 c.3770G>A c.(3769-3771)GGA>GAA p.G1257E RBBP6_uc010vcb.1_Missense_Mutation_p.G1124E|RBBP6_uc002dmi.2_Missense_Mutation_p.G1223E|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.G1090E NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1257 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) AAAGTGACTGGAACTGAAGGA 0.408000 CORO1A 11151 broad.mit.edu 37 16 30199821 30199821 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:30199821G>A uc002dww.2 + 10 1327 c.1205G>A c.(1204-1206)CGG>CAG p.R402Q uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.R402Q|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.R296Q|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 402 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 CCAAAGAGCCGGGAGCTGAGG 0.701000 ZNF689 115509 broad.mit.edu 37 16 30616471 30616471 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:30616471A>G uc002dyx.2 - 3 937 c.617T>C c.(616-618)GTT>GCT p.V206A ZNF689_uc010bzy.2_5'UTR NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 206 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) CTGGTCACAAACATAGGGGCA 0.582000 SETD1A 9739 broad.mit.edu 37 16 30991144 30991144 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:30991144C>T uc002ead.1 + 14 4723 c.4037C>T c.(4036-4038)GCG>GTG p.A1346V NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1346 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 GTGGCTGAGGCGGAGGAGCCC 0.532000 ITGAD 3681 broad.mit.edu 37 16 31405644 31405644 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:31405644T>C uc002ebv.1 + 2 168 c.119T>C c.(118-120)GTG>GCG p.V40A ITGAD_uc010vfl.1_Missense_Mutation_p.V40A|ITGAD_uc010cap.1_Missense_Mutation_p.V40A NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 40 Extracellular (Potential).|FG-GAP 1. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 CAGAGCGTGGTGCAGTTCGGT 0.562000 N4BP1 9683 broad.mit.edu 37 16 48595876 48595876 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:48595876A>G uc002efp.2 - 2 915 c.678T>C c.(676-678)TCT>TCC p.S226S NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 226 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) TTTCATCTCTAGAAATATTCA 0.408000 SALL1 6299 broad.mit.edu 37 16 51173150 51173150 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:51173150G>A uc010vgs.1 - 2 3014 c.2983C>T c.(2983-2985)CGG>TGG p.R995W SALL1_uc010vgr.1_Missense_Mutation_p.R898W|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 995 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AATTTACCCCGGTCTCTAAAA 0.433000 RBL2 5934 broad.mit.edu 37 16 53524074 53524074 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:53524074A>C uc002ehi.3 + 22 3400 c.3282A>C c.(3280-3282)ACA>ACC p.T1094T RBL2_uc002ehj.2_Silent_p.T804T|RBL2_uc010vgw.1_Silent_p.T473T NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1094 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 TGATACGCACAGGAGAAACTC 0.348000 RSPRY1 89970 broad.mit.edu 37 16 57269043 57269043 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:57269043C>T uc002elb.2 + 14 1815 c.1537C>T c.(1537-1539)CGT>TGT p.R513C RSPRY1_uc002elc.2_Missense_Mutation_p.R513C|RSPRY1_uc002eld.2_Missense_Mutation_p.R513C NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 513 extracellular region zinc ion binding ovary(1) 1 CAGGCACAGGCGTCTTGCTCT 0.433000 GPR97 222487 broad.mit.edu 37 16 57719834 57719834 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:57719834G>A uc002emh.2 + 11 1639 c.1536G>A c.(1534-1536)TTG>TTA p.L512L GPR97_uc010vhv.1_Silent_p.L392L|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Silent_p.L120L NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 512 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 TCAACTCCTTGCAAGGTGAGG 0.592000 PRSS54 221191 broad.mit.edu 37 16 58324946 58324946 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:58324946C>A uc002enf.2 - 4 575 c.180G>T c.(178-180)CAG>CAT p.Q60H PRSS54_uc002eng.2_Missense_Mutation_p.Q60H|PRSS54_uc010vie.1_Intron NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 60 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ACTGGGAGTCCTGCAGCGACA 0.607000 SETD6 79918 broad.mit.edu 37 16 58549965 58549965 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:58549965C>T uc002ens.2 + 2 357 c.298C>T c.(298-300)CAG>TAG p.Q100* SETD6_uc010cdl.2_Nonsense_Mutation_p.Q100*|SETD6_uc002enr.2_Nonsense_Mutation_p.Q76*|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Nonsense_Mutation_p.Q24* NM_001160305 NP_001153777 Q8TBK2 SETD6_HUMAN SET domain containing 6 isoform a 100 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity ovary(1) 1 GCTCCTGTCGCAGCACACCTG 0.612000 CDH8 1006 broad.mit.edu 37 16 61761058 61761058 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:61761058G>A uc002eog.1 - 9 1728 c.1476C>T c.(1474-1476)AAC>AAT p.N492N CDH8_uc002eoh.2_Silent_p.N261N NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 492 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATTCAGGGGCGTTGTCATTGA 0.393000 CDH8 1006 broad.mit.edu 37 16 61851566 61851566 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:61851566C>T uc002eog.1 - 7 1346 c.1094G>A c.(1093-1095)CGC>CAC p.R365H CDH8_uc002eoh.2_Missense_Mutation_p.R134H NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 365 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCCACTGAAGCGTGGGTCAAT 0.468000 KIAA0895L 653319 broad.mit.edu 37 16 67214240 67214240 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:67214240G>A uc002ert.2 - 2 1049 c.274C>T c.(274-276)CGG>TGG p.R92W KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'Flank|KIAA0895L_uc002eru.2_Missense_Mutation_p.R92W|EXOC3L_uc002erv.1_RNA NM_001040715 NP_001035805 Q68EN5 K895L_HUMAN hypothetical protein LOC653319 92 0 CCACGCCCCCGCCGGCCAGTA 0.672000 PLEKHG4 25894 broad.mit.edu 37 16 67321888 67321888 + Missense_Mutation SNP G G A rs56077142 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:67321888G>A uc002eso.3 + 18 5726 c.3191G>A c.(3190-3192)CGC>CAC p.R1064H PLEKHG4_uc002esp.3_Missense_Mutation_p.R871H|PLEKHG4_uc002esq.3_Missense_Mutation_p.R1064H|PLEKHG4_uc010cef.2_Missense_Mutation_p.R1064H|PLEKHG4_uc002ess.3_Missense_Mutation_p.R1064H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R983H NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 1064 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) ATCAACGACCGCACCGTCAAC 0.602000 SLC12A4 6560 broad.mit.edu 37 16 67984960 67984960 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:67984960A>G uc002euz.2 - 10 1442 c.1301T>C c.(1300-1302)ATC>ACC p.I434T SLC12A4_uc010ceu.2_Missense_Mutation_p.I428T|SLC12A4_uc010vkh.1_Missense_Mutation_p.I403T|SLC12A4_uc010vki.1_Missense_Mutation_p.I434T|SLC12A4_uc010vkj.1_Missense_Mutation_p.I436T|SLC12A4_uc002eva.2_Missense_Mutation_p.I434T|SLC12A4_uc002evb.2_Intron NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 434 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCCAGCCATGATGCCTCCAAA 0.582000 CDH3 1001 broad.mit.edu 37 16 68716319 68716319 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:68716319G>A uc002ewf.2 + 9 2243 c.1111G>A c.(1111-1113)GGT>AGT p.G371S CDH3_uc010vli.1_Missense_Mutation_p.G316S NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 371 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TATCATGGGCGGTGACGACGG 0.602000 LDHD 197257 broad.mit.edu 37 16 75146546 75146546 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:75146546C>T uc002fdm.2 - 10 1359 c.1312G>A c.(1312-1314)GCC>ACC p.A438T LDHD_uc002fdn.2_Missense_Mutation_p.A415T NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 438 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 AGTTCCTCGGCGTCATCAGGG 0.612000 KCNG4 93107 broad.mit.edu 37 16 84256426 84256426 + Silent SNP G G A rs150509470 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:84256426G>A uc010voc.1 - 3 1078 c.957C>T c.(955-957)GAC>GAT p.D319D NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 319 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 GCCTCTCGCCGTCCTCCGGGG 0.652000 COTL1 23406 broad.mit.edu 37 16 84600458 84600458 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:84600458G>A uc002fid.2 - 4 571 c.422C>T c.(421-423)ACG>ATG p.T141M COTL1_uc002fie.2_3'UTR|COTL1_uc010chk.2_RNA|COTL1_uc002fif.1_RNA NM_021149 NP_066972 Q14019 COTL1_HUMAN coactosin-like 1 141 cytoplasm|cytoskeleton actin binding|enzyme binding skin(1) 1 GGGTTACTCCGTCTGGGCGTC 0.612000 KIAA0513 9764 broad.mit.edu 37 16 85111120 85111120 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:85111120G>A uc002fiu.2 + 6 884 c.664G>A c.(664-666)GAA>AAA p.E222K KIAA0513_uc002fis.3_Missense_Mutation_p.E222K|KIAA0513_uc010voj.1_Missense_Mutation_p.E222K|KIAA0513_uc002fit.2_Missense_Mutation_p.E222K NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 222 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) CTGGCTGGCCGAAAAGAAGGA 0.617000 FOXL1 2300 broad.mit.edu 37 16 86612522 86612522 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:86612522G>A uc002fjr.2 + 1 408 c.193G>A c.(193-195)GCG>ACG p.A65T NM_005250 NP_005241 Q12952 FOXL1_HUMAN forkhead box L1 65 Fork-head. brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 GATCCAGGACGCGCCCGAGCA 0.662000 KLHDC4 54758 broad.mit.edu 37 16 87742975 87742975 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:87742975C>G uc002fki.2 - 10 1389 c.1343G>C c.(1342-1344)GGG>GCG p.G448A KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Intron|KLHDC4_uc002fkj.2_Missense_Mutation_p.G417A|KLHDC4_uc002fkk.2_Missense_Mutation_p.G267A|KLHDC4_uc002fkl.2_Missense_Mutation_p.G391A|KLHDC4_uc010chu.1_Missense_Mutation_p.G267A NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 448 Kelch 6. pancreas(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0283) AAACATGCCCCCATAGACGTA 0.657000 VPS53 55275 broad.mit.edu 37 17 465886 465886 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:465886G>A uc002frn.2 - 14 1560 c.1413C>T c.(1411-1413)TGC>TGT p.C471C VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Silent_p.C471C|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.C442C|VPS53_uc002fro.2_Silent_p.C273C|VPS53_uc010cjp.1_Silent_p.C194C NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 471 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) AGAGGTCGGCGCAGCTGGGGA 0.562000 ABR 29 broad.mit.edu 37 17 959308 959308 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:959308C>T uc002fsd.2 - 14 1638 c.1528G>A c.(1528-1530)GTC>ATC p.V510I ABR_uc002fse.2_Missense_Mutation_p.V464I|ABR_uc010vqg.1_Missense_Mutation_p.V292I|ABR_uc002fsg.2_Missense_Mutation_p.V473I|ABR_uc002fsh.1_Intron NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 510 C2. 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 GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GCAGAGTGGACGATGACATGA 0.577000 OREG0024067 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ABR 29 broad.mit.edu 37 17 973307 973307 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:973307G>A uc002fsd.2 - 9 1028 c.918C>T c.(916-918)GGC>GGT p.G306G ABR_uc002fse.2_Silent_p.G260G|ABR_uc010vqg.1_Silent_p.G88G|ABR_uc002fsg.2_Silent_p.G269G|ABR_uc002fsh.1_Silent_p.G190G NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 306 PH. 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 GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CCACCAGGAAGCCGTCCTTCA 0.627000 PRPF8 10594 broad.mit.edu 37 17 1582418 1582418 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:1582418G>A uc002fte.2 - 11 1606 c.1492C>T c.(1492-1494)CGC>TGC p.R498C NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 498 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TAGCCCTGGCGGCAAACCTGG 0.512000 PRPF8 10594 broad.mit.edu 37 17 1585245 1585245 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:1585245C>T uc002fte.2 - 5 636 c.522G>A c.(520-522)CCG>CCA p.P174P NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 174 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) AGTCCAAGGGCGGCTCCTCAT 0.517000 OR3A1 4994 broad.mit.edu 37 17 3195643 3195643 + Silent SNP G G A rs144484709 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:3195643G>A uc002fvh.1 - 1 234 c.234C>T c.(232-234)AGC>AGT p.S78S NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 GAACAGTGACGCTGATGCACC 0.557000 SMTNL2 342527 broad.mit.edu 37 17 4510711 4510711 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:4510711C>T uc002fyf.1 + 8 1382 c.1315C>T c.(1315-1317)CGC>TGC p.R439C SMTNL2_uc002fye.2_Missense_Mutation_p.R295C NM_001114974 NP_001108446 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 isoform 1 439 CH. 0 READ - Rectum adenocarcinoma(115;0.0325) GGTGATGGGCCGCAAGCCGGA 0.582000 USP6 9098 broad.mit.edu 37 17 5041527 5041527 + Missense_Mutation SNP C C T rs139849858 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:5041527C>T uc002gau.1 + 21 3267 c.1037C>T c.(1036-1038)ACG>ATG p.T346M USP6_uc002gav.1_Missense_Mutation_p.T346M|USP6_uc010ckz.1_Translation_Start_Site|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 346 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 AGGGCCTCTACGAAGAAACTA 0.582000 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts NLGN2 57555 broad.mit.edu 37 17 7317671 7317671 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:7317671G>A uc002ggt.1 + 3 590 c.517G>A c.(517-519)GAC>AAC p.D173N NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN neuroligin 2 precursor 173 Extracellular (Potential). cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1) 1 Prostate(122;0.157) AGATATCCGTGACCCTGGGAA 0.622000 TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:7574003G>A uc002gim.2 - 10 1218 c.1024C>T c.(1024-1026)CGA>TGA p.R342* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 342 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2. R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> L (in a sporadic cancer; 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.R342*(49)|p.0?(7)|p.R342fs*3(5)|p.R342P(3)|p.R342Q(2)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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) TTCAGCTCTCGGAACATCTCG 0.498000 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) TP53 7157 broad.mit.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:7574018G>A uc002gim.2 - 10 1203 c.1009C>T c.(1009-1011)CGC>TGC p.R337C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 337 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (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.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(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) ATCTCGAAGCGCTCACGCCCA 0.448000 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) DNAH2 146754 broad.mit.edu 37 17 7661896 7661896 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:7661896T>A uc002giu.1 + 13 2149 c.2135T>A c.(2134-2136)CTC>CAC p.L712H NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 712 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CACCCGGGACTCAAGAAACTG 0.542000 NTN1 9423 broad.mit.edu 37 17 8926196 8926196 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:8926196G>A uc002glw.3 + 2 613 c.506G>A c.(505-507)CGC>CAC p.R169H NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 169 Laminin N-terminal. apoptosis|axon guidance protein binding 0 GACTACGGGCGCACGTGGGTG 0.632000 GLP2R 9340 broad.mit.edu 37 17 9792953 9792953 + Silent SNP C C T rs151332857 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:9792953C>T uc002gmd.1 + 13 1593 c.1593C>T c.(1591-1593)TCC>TCT p.S531S NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 531 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) GCAGCCTGTCCGAGTGCAGTG 0.637000 MYH13 8735 broad.mit.edu 37 17 10214522 10214522 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:10214522C>T uc002gmk.1 - 33 4644 c.4554G>A c.(4552-4554)GAG>GAA p.E1518E NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1518 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CTGCAATCTGCTCAGTTAAGT 0.463000 MYH13 8735 broad.mit.edu 37 17 10222453 10222453 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:10222453G>A uc002gmk.1 - 27 3482 c.3392C>T c.(3391-3393)ACG>ATG p.T1131M NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1131 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GGCTCTGAGCGTGTGTTCCGC 0.557000 MYOCD 93649 broad.mit.edu 37 17 12656201 12656201 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:12656201C>T uc002gnn.2 + 10 1895 c.1596C>T c.(1594-1596)ACC>ACT p.T532T MYOCD_uc002gno.2_Silent_p.T532T|MYOCD_uc002gnp.1_Silent_p.T436T|MYOCD_uc002gnq.2_Silent_p.T251T NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 532 Potential. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ATGAACTCACCTGGAAACTCC 0.537000 ELAC2 60528 broad.mit.edu 37 17 12896212 12896212 + Missense_Mutation SNP C C T rs147779718 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:12896212C>T uc002gnz.3 - 24 2499 c.2404G>A c.(2404-2406)GGC>AGC p.G802S ELAC2_uc002gnu.3_Missense_Mutation_p.G199S|ELAC2_uc002gnv.3_Missense_Mutation_p.G430S|ELAC2_uc002gnw.3_Missense_Mutation_p.G458S|ELAC2_uc002gnx.3_Missense_Mutation_p.G562S|ELAC2_uc010vvo.1_Missense_Mutation_p.G600S|ELAC2_uc010vvp.1_Missense_Mutation_p.G783S|ELAC2_uc010vvq.1_Missense_Mutation_p.G801S|ELAC2_uc010vvr.1_Missense_Mutation_p.G762S NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN elaC homolog 2 isoform 1 802 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding 0 TCCTCCAGGCCGCCTGCCAGC 0.662000 Hereditary_Prostate_Cancer MPRIP 23164 broad.mit.edu 37 17 17030057 17030057 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:17030057C>T uc002gqu.1 + 4 365 c.309C>T c.(307-309)TGC>TGT p.C103C MPRIP_uc002gqv.1_Silent_p.C103C NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 103 Interaction with F-actin (By similarity).|PH 1. cytoplasm|cytoskeleton actin binding 0 TGAACCAGTGCACAGATGTGG 0.597000 MPRIP 23164 broad.mit.edu 37 17 17062029 17062029 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:17062029C>T uc002gqu.1 + 14 1815 c.1759C>T c.(1759-1761)CGG>TGG p.R587W MPRIP_uc002gqv.1_Missense_Mutation_p.R587W|MPRIP_uc002gqw.1_Missense_Mutation_p.R342W NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 587 Interaction with RHOA. cytoplasm|cytoskeleton actin binding 0 GGAGCGTGCACGGAGGCGGGA 0.746000 TMEM11 8834 broad.mit.edu 37 17 21101952 21101952 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:21101952C>T uc002gyp.2 - 2 707 c.264G>A c.(262-264)GCG>GCA p.A88A TMEM11_uc002gyq.2_3'UTR NM_003876 NP_003867 P17152 TMM11_HUMAN transmembrane protein 11 88 Helical; (Potential). mitochondrion organization integral to mitochondrial inner membrane|integral to plasma membrane protein binding 0 AGGCGGTGCCCGCCAGCACGG 0.622000 TAOK1 57551 broad.mit.edu 37 17 27857552 27857552 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:27857552G>A uc002hdz.1 + 18 2470 c.2276G>A c.(2275-2277)CGG>CAG p.R759Q TAOK1_uc010wbe.1_Missense_Mutation_p.R611Q|TAOK1_uc010wbf.1_Missense_Mutation_p.R759Q NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 759 Potential. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) GTTCTGAAACGGCTCAAGGAG 0.438000 OMG 4974 broad.mit.edu 37 17 29622153 29622153 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:29622153G>T uc002hgj.2 - 2 1410 c.1197C>A c.(1195-1197)ACC>ACA p.T399T NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron NM_002544 NP_002535 P23515 OMGP_HUMAN oligodendrocyte myelin glycoprotein precursor 399 Ser/Thr-rich. cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane p.?(2) ovary(1)|central_nervous_system(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;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) ATAAGTTAAGGGTTGTGCTTT 0.413000 ZNF830 91603 broad.mit.edu 37 17 33289068 33289068 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:33289068T>G uc002hih.3 + 1 520 c.483T>G c.(481-483)GAT>GAG p.D161E CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank NM_052857 NP_443089 Q96NB3 ZN830_HUMAN coiled-coil domain containing 16 161 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1) 1 Ovarian(249;0.17) ATTATGAAGATgaggaggagg 0.438000 TAF15 8148 broad.mit.edu 37 17 34171552 34171552 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:34171552G>A uc002hkd.2 + 15 1335 c.1249G>A c.(1249-1251)GGC>AGC p.G417S TAF15_uc002hkc.2_Missense_Mutation_p.G414S NM_139215 NP_631961 Q92804 RBP56_HUMAN TBP-associated factor 15 isoform 1 417 Arg/Gly-rich.|2.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) bone(33)|lung(1)|skin(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) agaccgaggcggctatggtgg 0.244000 T TEC|CHN1|ZNF384 extraskeletal myxoid chondrosarcomas|ALL THRA 7067 broad.mit.edu 37 17 38244713 38244713 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:38244713G>T uc002htw.2 + 8 1425 c.942G>T c.(940-942)ACG>ACT p.T314T THRA_uc010cwp.1_Silent_p.T314T|THRA_uc002htv.2_Silent_p.T314T|THRA_uc002htx.2_Silent_p.T314T NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 314 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TGGATGACACGGAAGTGGCTC 0.572000 KRT33B 3884 broad.mit.edu 37 17 39520144 39520144 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:39520144T>G uc002hwl.2 - 7 1204 c.1159A>C c.(1159-1161)ACC>CCC p.T387P NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 387 Tail. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) CAAGGATTGGTGACACAGGAT 0.547000 DHX58 79132 broad.mit.edu 37 17 40256795 40256795 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:40256795A>G uc002hyw.3 - 11 1775 c.1552T>C c.(1552-1554)TAC>CAC p.Y518H DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.Y511H NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 518 Potential. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TTGGCCTGGTACTCGGCCTGG 0.637000 PLEKHH3 79990 broad.mit.edu 37 17 40825735 40825735 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:40825735G>A uc002iau.2 - 4 883 c.416C>T c.(415-417)GCG>GTG p.A139V PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.A139V NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 139 PH. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GAGACGCCGCGCCCCTTTCCC 0.711000 BRCA1 672 broad.mit.edu 37 17 41245719 41245719 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:41245719C>A uc002icq.2 - 10 2061 c.1829G>T c.(1828-1830)AGG>ATG p.R610M BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R539M|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R563M|BRCA1_uc002ict.2_Missense_Mutation_p.R610M|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R610M|BRCA1_uc002ide.1_Missense_Mutation_p.R441M|BRCA1_uc010cyy.1_Missense_Mutation_p.R610M|BRCA1_uc010whs.1_Missense_Mutation_p.R610M|BRCA1_uc010cyz.2_Missense_Mutation_p.R563M|BRCA1_uc010cza.2_Missense_Mutation_p.R584M|BRCA1_uc010wht.1_Missense_Mutation_p.R314M NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 610 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CCTCCTCAGCCTATTCTTTTT 0.373000 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) RUNDC3A 10900 broad.mit.edu 37 17 42390848 42390848 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:42390848T>G uc002igl.3 + 4 709 c.435T>G c.(433-435)GCT>GCG p.A145A RUNDC3A_uc002igi.2_Silent_p.A145A|RUNDC3A_uc002igj.2_Silent_p.A140A|RUNDC3A_uc002igk.2_Silent_p.A141A NM_001144825 NP_001138297 Q59EK9 RUN3A_HUMAN RUN domain containing 3A isoform 1 145 Interaction with RAP2A (By similarity).|RUN. small GTPase mediated signal transduction small GTPase regulator activity 0 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TCACCACGGCTCTGCGTGACA 0.562000 KIF18B 146909 broad.mit.edu 37 17 43008980 43008980 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:43008980G>A uc010wji.1 - 11 1644 c.1543C>T c.(1543-1545)CGT>TGT p.R515C KIF18B_uc002iht.2_Missense_Mutation_p.R515C|KIF18B_uc010wjh.1_Missense_Mutation_p.R503C NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) TGCTTAGAACGGTCCCCATCC 0.567000 MAP3K14 9020 broad.mit.edu 37 17 43364390 43364390 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:43364390C>T uc002iiw.1 - 5 668 c.559G>A c.(559-561)GCC>ACC p.A187T MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_5'UTR NM_003954 NP_003945 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 187 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1) 8 ACATATGGGGCGCCGAGTGGA 0.597000 NFE2L1 4779 broad.mit.edu 37 17 46135782 46135782 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:46135782G>A uc002imz.3 + 6 1749 c.1098G>A c.(1096-1098)GCG>GCA p.A366A NFE2L1_uc002ina.3_Silent_p.A336A|NFE2L1_uc002inb.3_Silent_p.A336A|NFE2L1_uc010wle.1_Silent_p.A178A|NFE2L1_uc010wlf.1_Silent_p.A210A NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 366 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 TGCATCAGGCGTCCCTGGGGG 0.612000 HOXB1 3211 broad.mit.edu 37 17 46607743 46607743 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:46607743G>T uc002ink.1 - 1 530 c.524C>A c.(523-525)CCC>CAC p.P175H NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 175 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCGGGCCGTGGGGGTGTTAGG 0.597000 HOXB3 3213 broad.mit.edu 37 17 46628518 46628518 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:46628518A>G uc002inn.2 - 2 874 c.474T>C c.(472-474)GGT>GGC p.G158G HOXB3_uc010wlm.1_Silent_p.G85G|HOXB3_uc010dbf.2_Silent_p.G158G|HOXB3_uc010dbg.2_Silent_p.G158G|HOXB3_uc002ino.2_Silent_p.G158G|HOXB3_uc010wlk.1_Silent_p.G26G|HOXB3_uc010wll.1_Silent_p.G85G NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 158 Gly-rich. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 cgccgccgccaccgccgccgc 0.393000 HOXB3 3213 broad.mit.edu 37 17 46628524 46628524 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:46628524G>A uc002inn.2 - 2 868 c.468C>T c.(466-468)GGC>GGT p.G156G HOXB3_uc010wlm.1_Silent_p.G83G|HOXB3_uc010dbf.2_Silent_p.G156G|HOXB3_uc010dbg.2_Silent_p.G156G|HOXB3_uc002ino.2_Silent_p.G156G|HOXB3_uc010wlk.1_Silent_p.G24G|HOXB3_uc010wll.1_Silent_p.G83G NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 156 Gly-rich. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 cgccaccgccgccgccaccAC 0.383000 HOXB3 3213 broad.mit.edu 37 17 46629516 46629516 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:46629516G>A uc002inn.2 - 1 721 c.321C>T c.(319-321)GGC>GGT p.G107G HOXB3_uc010wlm.1_Silent_p.G34G|HOXB3_uc010dbf.2_Silent_p.G107G|HOXB3_uc010dbg.2_Silent_p.G107G|HOXB3_uc002ino.2_Silent_p.G107G|HOXB3_uc010wlk.1_Intron|HOXB3_uc010wll.1_Silent_p.G34G NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 107 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TGCTGGGCCCGCCCCCATTAC 0.652000 HOXB13 10481 broad.mit.edu 37 17 46804349 46804349 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:46804349G>A uc002ioa.2 - 2 814 c.658C>T c.(658-660)CGC>TGC p.R220C hsa-mir-3185|MI0014227_5'Flank NM_006361 NP_006352 Q92826 HXB13_HUMAN homeobox B13 220 Homeobox. angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TACGGAATGCGTTTCTTGCGG 0.617000 XYLT2 64132 broad.mit.edu 37 17 48433258 48433258 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:48433258T>C uc002iqo.2 + 6 1314 c.1205T>C c.(1204-1206)TTC>TCC p.F402S XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 402 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) TCTGACTGGTTCGTGCTGACA 0.607000 CACNA1G 8913 broad.mit.edu 37 17 48653598 48653598 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:48653598C>T uc002irk.1 + 8 2207 c.1835C>T c.(1834-1836)GCC>GTC p.A612V CACNA1G_uc002iri.1_Missense_Mutation_p.A612V|CACNA1G_uc002irj.1_Missense_Mutation_p.A612V|CACNA1G_uc002irl.1_Missense_Mutation_p.A612V|CACNA1G_uc002irm.1_Missense_Mutation_p.A612V|CACNA1G_uc002irn.1_Missense_Mutation_p.A612V|CACNA1G_uc002iro.1_Missense_Mutation_p.A612V|CACNA1G_uc002irp.1_Missense_Mutation_p.A612V|CACNA1G_uc002irq.1_Missense_Mutation_p.A612V|CACNA1G_uc002irr.1_Missense_Mutation_p.A612V|CACNA1G_uc002irs.1_Missense_Mutation_p.A612V|CACNA1G_uc002irt.1_Missense_Mutation_p.A612V|CACNA1G_uc002irv.1_Missense_Mutation_p.A612V|CACNA1G_uc002irw.1_Missense_Mutation_p.A612V|CACNA1G_uc002iru.1_Missense_Mutation_p.A612V|CACNA1G_uc002irx.1_Missense_Mutation_p.A525V|CACNA1G_uc002iry.1_Missense_Mutation_p.A525V|CACNA1G_uc002irz.1_Missense_Mutation_p.A525V|CACNA1G_uc002isa.1_Missense_Mutation_p.A525V|CACNA1G_uc002isb.1_Missense_Mutation_p.A525V|CACNA1G_uc002isc.1_Missense_Mutation_p.A525V|CACNA1G_uc002isd.1_Missense_Mutation_p.A525V|CACNA1G_uc002ise.1_Missense_Mutation_p.A525V|CACNA1G_uc002isf.1_Missense_Mutation_p.A525V|CACNA1G_uc002isg.1_Missense_Mutation_p.A525V|CACNA1G_uc002ish.1_Missense_Mutation_p.A525V|CACNA1G_uc002isi.1_Missense_Mutation_p.A525V NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 612 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GAGGTGGCTGCCAGCTCTGGG 0.627000 CUEDC1 404093 broad.mit.edu 37 17 55945510 55945510 + Splice_Site SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:55945510C>T uc002ivd.1 - 8 1753 c.1034_splice c.e8+1 p.S345_splice CUEDC1_uc002ive.1_Splice_Site_p.S345_splice NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN CUE domain-containing 1 skin(2) 2 GGAAAGGATACGACTGATGCT 0.572000 C17orf71 55181 broad.mit.edu 37 17 57290673 57290673 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:57290673C>T uc002ixi.2 + 3 2531 c.2489C>T c.(2488-2490)GCG>GTG p.A830V NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 830 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) AAGAGAAGTGCGGTTGTAATG 0.478000 PPM1D 8493 broad.mit.edu 37 17 58740617 58740617 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:58740617A>G uc002iyt.1 + 6 1744 c.1522A>G c.(1522-1524)ATG>GTG p.M508V PPM1D_uc010ddm.1_RNA NM_003620 NP_003611 O15297 PPM1D_HUMAN protein phosphatase 1D 508 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) AAACACTGTCATGGACCAAAA 0.378000 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) CCDC45 90799 broad.mit.edu 37 17 62532743 62532743 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:62532743A>C uc002jem.2 + 18 2152 c.2094A>C c.(2092-2094)GAA>GAC p.E698D CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.E534D NM_138363 NP_612372 Q96GE4 CEP95_HUMAN coiled-coil domain containing 45 698 centrosome|spindle pole protein binding 0 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TGTTTGAAGAAGGTTTAAACA 0.348000 CACNG5 27091 broad.mit.edu 37 17 64873462 64873462 + Silent SNP C C T rs138908277 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:64873462C>T uc010wqi.1 + 2 249 c.12C>T c.(10-12)TGC>TGT p.C4C CACNG5_uc002jfr.2_Silent_p.C4C|CACNG5_uc010wqj.1_Silent_p.C4C NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 4 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) TGAGTGCCTGCGGGAGGAAGG 0.637000 PRKAR1A 5573 broad.mit.edu 37 17 66511682 66511682 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:66511682G>A uc002jhg.2 + 2 322 c.142G>A c.(142-144)GCA>ACA p.A48T PRKAR1A_uc002jhh.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhi.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhj.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Missense_Mutation_p.A48T|PRKAR1A_uc002jhm.2_Missense_Mutation_p.A48T NM_212471 NP_997636 P10644 KAP0_HUMAN cAMP-dependent protein kinase, regulatory 48 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1) 12 Breast(10;1.64e-13) GAGACCCATGGCATTCCTCAG 0.438000 T|Mis|N|F|S RET papillary thyroid myxoma|endocrine|papillary thyroid Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of ABCA9 10350 broad.mit.edu 37 17 66980295 66980295 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:66980295A>G uc002jhu.2 - 35 4544 c.4401T>C c.(4399-4401)TTT>TTC p.F1467F ABCA9_uc010dez.2_Silent_p.F1429F NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 1467 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CCGTGTTTCTAAAGGTGGCCC 0.507000 GRIN2C 2905 broad.mit.edu 37 17 72851041 72851041 + Missense_Mutation SNP G G A rs145634769 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:72851041G>A uc002jlt.1 - 2 347 c.191C>T c.(190-192)CCG>CTG p.P64L GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.P64L|GRIN2C_uc002jlv.1_Missense_Mutation_p.P64L NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 64 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) AACTGTGAGCGGCTGGATCTC 0.657000 FDXR 2232 broad.mit.edu 37 17 72859231 72859231 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:72859231A>G uc002jly.2 - 11 1399 c.1312T>C c.(1312-1314)TAC>CAC p.Y438H GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.1_Missense_Mutation_p.Y386H|FDXR_uc010wrj.1_Missense_Mutation_p.Y436H|FDXR_uc002jlw.2_Missense_Mutation_p.Y195H|FDXR_uc002jlx.2_Missense_Mutation_p.Y444H|FDXR_uc002jmc.2_Missense_Mutation_p.Y410H|FDXR_uc010wrk.1_Missense_Mutation_p.Y469H|FDXR_uc010wrl.1_Missense_Mutation_p.Y481H|FDXR_uc002jma.2_Missense_Mutation_p.Y439H|FDXR_uc010wrm.1_Missense_Mutation_p.Y398H|FDXR_uc002jlz.2_Missense_Mutation_p.Y430H|FDXR_uc002jmb.2_RNA NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 438 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) ATGGCTGCGTAGCCAGGCCTG 0.647000 UBE2O 63893 broad.mit.edu 37 17 74394635 74394635 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:74394635C>A uc002jrm.3 - 11 1879 c.1814G>T c.(1813-1815)GGT>GTT p.G605V UBE2O_uc002jrn.3_Missense_Mutation_p.G605V|UBE2O_uc002jrl.3_Missense_Mutation_p.G208V NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 605 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 CTGTACCACACCGTAGACAGC 0.587000 OREG0024751 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RNF213 57674 broad.mit.edu 37 17 78319303 78319303 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:78319303G>A uc002jyh.1 + 4 1610 c.1387G>A c.(1387-1389)GAC>AAC p.D463N 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) CACCGACCCCGACAAAACGTA 0.527000 NPLOC4 55666 broad.mit.edu 37 17 79539094 79539094 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:79539094G>C uc002kat.3 - 13 1484 c.1302C>G c.(1300-1302)AAC>AAG p.N434K NPLOC4_uc002kau.3_Missense_Mutation_p.N434K|NPLOC4_uc010wur.1_Missense_Mutation_p.N273K|NPLOC4_uc002kas.2_5'Flank NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 434 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GGGTGATCTCGTTGCCAAACT 0.542000 DCXR 51181 broad.mit.edu 37 17 79994478 79994478 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:79994478G>A uc002kdg.2 - 5 405 c.390C>T c.(388-390)GCC>GCT p.A130A NM_016286 NP_057370 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase 130 D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process membrane binding|L-xylulose reductase (NADP+) activity 0 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CATTCACGATGGCCCCTGGGA 0.532000 HEXDC 284004 broad.mit.edu 37 17 80397570 80397570 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:80397570C>T uc002kew.2 + 8 1014 c.963C>T c.(961-963)TGC>TGT p.C321C HEXDC_uc002kev.3_Silent_p.C321C|HEXDC_uc010diq.2_Silent_p.C321C|HEXDC_uc010wvm.1_RNA|HEXDC_uc010wvn.1_Silent_p.C84C Q8WVB3 HEXDC_HUMAN SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D; 321 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding ovary(1)|skin(1) 2 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TGGCCGCCTGCCTGCAGTTGC 0.682000 ENOSF1 55556 broad.mit.edu 37 18 683287 683287 + Missense_Mutation SNP T T A rs146518307 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:683287T>A uc002kku.3 - 11 910 c.835A>T c.(835-837)ACC>TCC p.T279S ENOSF1_uc002kkt.3_Missense_Mutation_p.T197S|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.T300S|ENOSF1_uc002kkv.3_Missense_Mutation_p.T266S|ENOSF1_uc002kkw.3_Missense_Mutation_p.T98S|ENOSF1_uc002kkx.3_Missense_Mutation_p.T203S NM_017512 NP_059982 Q7L5Y1 ENOF1_HUMAN enolase superfamily 1 isoform rTS beta 279 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding ovary(1) 1 TCAGGGGAGGTTGGCTCCTCA 0.532000 LAMA1 284217 broad.mit.edu 37 18 6959369 6959369 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:6959369C>T uc002knm.2 - 54 7843 c.7749G>A c.(7747-7749)GCG>GCA p.A2583A LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.A36A|LAMA1_uc010wzj.1_Silent_p.A2059A NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2583 Laminin G-like 3. 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) AGATGGAATGCGCTTGTCCAT 0.562000 TUBB6 84617 broad.mit.edu 37 18 12325590 12325590 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:12325590C>T uc002kqw.2 + 4 847 c.802C>T c.(802-804)CCT>TCT p.P268S TUBB6_uc002kqv.2_Missense_Mutation_p.P196S|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.P231S|TUBB6_uc002kqy.2_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 268 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) CTTCTTCATGCCTGGCTTCGC 0.672000 PSMA8 143471 broad.mit.edu 37 18 23772332 23772332 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:23772332A>G uc002kvq.2 + 7 842 c.728A>G c.(727-729)GAA>GGA p.E243G PSMA8_uc002kvo.2_Missense_Mutation_p.E199G|PSMA8_uc002kvp.2_Missense_Mutation_p.E237G|PSMA8_uc002kvr.2_Missense_Mutation_p.E211G NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 243 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) ATAGAAAAGGAAAAGGAAGAA 0.299000 MEP1B 4225 broad.mit.edu 37 18 29788119 29788119 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:29788119A>G uc002kxj.3 + 9 851 c.804A>G c.(802-804)GAA>GAG p.E268E NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 268 Extracellular (Potential).|MAM. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 GCAGTTTTGAACTGGAAAATG 0.413000 ASXL3 80816 broad.mit.edu 37 18 31325872 31325872 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:31325872A>G uc010dmg.1 + 12 6115 c.6060A>G c.(6058-6060)CCA>CCG p.P2020P ASXL3_uc002kxq.2_Silent_p.P1727P NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2020 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 cgccgccgccaccgcctcccc 0.274000 ELP2 55250 broad.mit.edu 37 18 33744530 33744530 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:33744530G>A uc002kzk.1 + 18 1864 c.1854G>A c.(1852-1854)ACG>ACA p.T618T ELP2_uc010xcg.1_Silent_p.T683T|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.T592T|ELP2_uc010xch.1_Silent_p.T613T|ELP2_uc002kzn.1_Silent_p.T548T|ELP2_uc002kzo.1_Silent_p.T548T NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 618 WD 11. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 TGACAGTCACGCAGATGGCCT 0.433000 FHOD3 80206 broad.mit.edu 37 18 34349306 34349306 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:34349306G>A uc002kzt.1 + 23 4200 c.4103G>A c.(4102-4104)CGC>CAC p.R1368H FHOD3_uc002kzs.1_Missense_Mutation_p.R1385H|FHOD3_uc010dmz.1_Missense_Mutation_p.R1100H|FHOD3_uc010dnb.1_Missense_Mutation_p.A306T NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1368 DAD. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) ATCATGGACCGCATCGTCAAG 0.517000 SETBP1 26040 broad.mit.edu 37 18 42532660 42532660 + Nonsense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:42532660G>T uc010dni.2 + 4 3651 c.3355G>T c.(3355-3357)GGA>TGA p.G1119* NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1119 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ACACCTGCAGGGACCTGTTAG 0.547000 Schinzel-Giedion_syndrome ZBTB7C 201501 broad.mit.edu 37 18 45567019 45567019 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:45567019C>T uc002lda.2 - 1 476 c.460G>A c.(460-462)GAA>AAA p.E154K ZBTB7C_uc002ldb.2_Missense_Mutation_p.E154K|ZBTB7C_uc010dnu.2_Missense_Mutation_p.E163K|ZBTB7C_uc010dnv.2_Missense_Mutation_p.E176K|ZBTB7C_uc010dnw.2_Missense_Mutation_p.E154K|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dny.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E176K|ZBTB7C_uc010dob.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doc.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dod.1_Missense_Mutation_p.E176K|ZBTB7C_uc010doe.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dof.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dog.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doh.1_Missense_Mutation_p.E163K|ZBTB7C_uc010doi.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doj.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dok.1_Missense_Mutation_p.E203K|ZBTB7C_uc010dol.1_Missense_Mutation_p.E163K|ZBTB7C_uc010doa.1_Missense_Mutation_p.E176K|ZBTB7C_uc010don.1_Missense_Mutation_p.E162K|ZBTB7C_uc010doo.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dop.1_Missense_Mutation_p.E154K|ZBTB7C_uc010doq.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dor.1_Missense_Mutation_p.E176K|ZBTB7C_uc010dos.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dot.1_Missense_Mutation_p.E154K|ZBTB7C_uc010dou.1_Missense_Mutation_p.E163K|ZBTB7C_uc010dom.1_Missense_Mutation_p.E163K NM_001039360 NP_001034449 A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 154 Glu-rich.|Asp-rich. intracellular nucleic acid binding|zinc ion binding ovary(1) 1 tcctcctcttcgtcctcctca 0.284000 MYO5B 4645 broad.mit.edu 37 18 47431168 47431168 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:47431168C>T uc002leb.2 - 20 2733 c.2445G>A c.(2443-2445)GCG>GCA p.A815A MYO5B_uc002lea.2_5'Flank NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 815 Arg-rich.|IQ 2. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) GCACCACAGCCGCTCTGATCC 0.622000 CXXC1 30827 broad.mit.edu 37 18 47809075 47809075 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:47809075C>A uc002leq.3 - 15 2592 c.1859G>T c.(1858-1860)CGC>CTC p.R620L MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R477L|CXXC1_uc002ler.3_Missense_Mutation_p.R624L|CXXC1_uc010doy.2_Missense_Mutation_p.A608S NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 620 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GCGCACATTGCGCTCCTGCTC 0.642000 RAX 30062 broad.mit.edu 37 18 56939817 56939817 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:56939817C>T uc002lhx.2 - 2 506 c.319G>A c.(319-321)GGG>AGG p.G107R RAX_uc010dpp.2_Intron NM_013435 NP_038463 Q9Y2V3 RX_HUMAN retina and anterior neural fold homeobox 107 G -> W (in Ref. 1; AAD23438). visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Lung NSC(161;0.0804)|Colorectal(73;0.0946) STAD - Stomach adenocarcinoma(84;0.18) CGTGCCTCCCCGGGCTCCTTG 0.697000 SERPINB3 6317 broad.mit.edu 37 18 61322973 61322973 + Missense_Mutation SNP T T C rs61733404 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:61322973T>C uc002lji.2 - 8 1235 c.1091A>G c.(1090-1092)CAT>CGT p.H364R SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.H312R NM_006919 NP_008850 P29508 SPB3_HUMAN serine (or cysteine) proteinase inhibitor, clade 364 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 GTGATTACAATGGAACTCTTC 0.458000 RTTN 25914 broad.mit.edu 37 18 67715346 67715346 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:67715346A>C uc002lkp.2 - 40 5470 c.5402T>G c.(5401-5403)CTC>CGC p.L1801R RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L889R|RTTN_uc010dqp.2_Missense_Mutation_p.L53R NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1801 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TTCGGTCAAGAGAACAGAAAG 0.443000 SALL3 27164 broad.mit.edu 37 18 76753340 76753340 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:76753340G>A uc002lmt.2 + 2 1349 c.1349G>A c.(1348-1350)TGC>TAC p.C450Y SALL3_uc010dra.2_Missense_Mutation_p.C57Y NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 450 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCCTTCAAGTGCAACATCTGC 0.592000 SALL3 27164 broad.mit.edu 37 18 76754516 76754516 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:76754516C>T uc002lmt.2 + 2 2525 c.2525C>T c.(2524-2526)GCC>GTC p.A842V SALL3_uc010dra.2_Missense_Mutation_p.A449V NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 842 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) AGCATTGCCGCCCTGGAGAAC 0.672000 KCNG2 26251 broad.mit.edu 37 18 77659548 77659548 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:77659548G>A uc010xfl.1 + 2 1133 c.1133G>A c.(1132-1134)CGC>CAC p.R378H NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 378 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) ATGGTCCCGCGCAGCCTGCCC 0.687000 KCNG2 26251 broad.mit.edu 37 18 77659577 77659577 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:77659577A>G uc010xfl.1 + 2 1162 c.1162A>G c.(1162-1164)AGC>GGC p.S388G NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 388 Helical; Name=Segment S6; (Potential). energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GGTGGCGCTCAGCAGCATCCT 0.662000 MIDN 90007 broad.mit.edu 37 19 1257208 1257208 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:1257208C>T uc002lrp.2 + 8 1859 c.1344C>T c.(1342-1344)TTC>TTT p.F448F NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 448 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) GCCTCGACTTCGAGGACTCCG 0.672000 ZFR2 23217 broad.mit.edu 37 19 3823259 3823259 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:3823259C>T uc002lyw.2 - 8 1368 c.1356G>A c.(1354-1356)CCG>CCA p.P452P ZFR2_uc010xhx.1_RNA NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 452 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) CCACATATTCCGGGCCCACCG 0.617000 SEMA6B 10501 broad.mit.edu 37 19 4548310 4548310 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:4548310G>A uc010duc.1 - 12 1457 c.1419C>T c.(1417-1419)GTC>GTT p.V473V SEMA6B_uc010dud.2_Silent_p.V473V|SEMA6B_uc010xih.1_Silent_p.V473V NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 473 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCAGGAAGACACTGAGCC 0.627000 TICAM1 148022 broad.mit.edu 37 19 4818093 4818093 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:4818093C>T uc002mbi.2 - 2 548 c.297G>A c.(295-297)TTG>TTA p.L99L NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 99 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GCAGGTGGTACAAGCGGGCCA 0.716000 KDM4B 23030 broad.mit.edu 37 19 5039897 5039897 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:5039897C>T uc002mbq.3 + 4 418 c.192C>T c.(190-192)GAC>GAT p.D64D KDM4B_uc010xil.1_Silent_p.D64D|KDM4B_uc010xim.1_Silent_p.D64D NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 64 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 ATGACATCGACGACGTGGTGA 0.612000 SAFB 6294 broad.mit.edu 37 19 5661753 5661753 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:5661753G>A uc002mcf.2 + 15 2140 c.2087G>A c.(2086-2088)CGC>CAC p.R696H SAFB_uc002mcg.2_Missense_Mutation_p.R696H|SAFB_uc002mce.3_Missense_Mutation_p.R695H|SAFB_uc010xir.1_Missense_Mutation_p.R695H|SAFB_uc010xis.1_Missense_Mutation_p.R627H|SAFB_uc010xit.1_Missense_Mutation_p.R538H|SAFB_uc010xiu.1_Missense_Mutation_p.R495H NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 696 Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.|Glu-rich. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GAGCTGAGGCGCCAGCAGGAA 0.701000 SAFB 6294 broad.mit.edu 37 19 5668284 5668284 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:5668284C>T uc002mcf.2 + 21 2783 c.2730C>T c.(2728-2730)CGC>CGT p.R910R SAFB_uc002mcg.2_Silent_p.R912R|SAFB_uc002mce.3_Silent_p.R911R|SAFB_uc010xir.1_Silent_p.R909R|SAFB_uc010xis.1_Silent_p.R843R|SAFB_uc010xit.1_Silent_p.R754R|SAFB_uc010xiu.1_Silent_p.R711R NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 910 Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GCGATGCCCGCTTCACTCGCC 0.592000 CLEC4G 339390 broad.mit.edu 37 19 7796189 7796189 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:7796189C>T uc002mhp.3 - 3 252 c.183G>A c.(181-183)GCG>GCA p.A61A NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 61 Extracellular (Potential). integral to membrane protein binding|sugar binding 0 CAAGCAGCGCCGCGCGCTCCG 0.731000 MYO1F 4542 broad.mit.edu 37 19 8616964 8616964 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:8616964C>T uc002mkg.2 - 7 703 c.589G>A c.(589-591)GTG>ATG p.V197M MYO1F_uc002mkh.2_Missense_Mutation_p.V197M|MYO1F_uc010xkf.1_Missense_Mutation_p.V197M NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 197 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 TGCATGACCACGCGGGACTTC 0.577000 MYO1F 4542 broad.mit.edu 37 19 8619568 8619568 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:8619568G>A uc002mkg.2 - 3 315 c.201C>T c.(199-201)ACC>ACT p.T67T MYO1F_uc002mkh.2_Silent_p.T67T|MYO1F_uc010xkf.1_Silent_p.T67T NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 67 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 TCTCACGGTCGGTGAAGTAGG 0.612000 MBD3L1 85509 broad.mit.edu 37 19 8953876 8953876 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:8953876G>A uc002mko.2 + 1 608 c.522G>A c.(520-522)GCG>GCA p.A174A NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 CACTGATTGCGGATGGACTCG 0.443000 MUC16 94025 broad.mit.edu 37 19 9083531 9083531 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:9083531T>G uc002mkp.2 - 1 8488 c.8284A>C c.(8284-8286)AGT>CGT p.S2762R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2762 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAACTCTGACTGAATACAAGG 0.493000 OR7G2 390882 broad.mit.edu 37 19 9213400 9213400 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:9213400T>G uc010xkk.1 - 1 583 c.583A>C c.(583-585)ATC>CTC p.I195L NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AAGAGCGGGATTTCCAGGTCT 0.478000 CDKN2D 1032 broad.mit.edu 37 19 10677793 10677793 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:10677793G>A uc002mpa.2 - 2 744 c.442C>T c.(442-444)CAG>TAG p.Q148* KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Nonsense_Mutation_p.Q148* NM_001800 NP_001791 P55273 CDN2D_HUMAN cyclin-dependent kinase inhibitor 2D 148 ANK 4. anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding 0 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) GCCCCTCTCTGCAGTGCCAGC 0.612000 Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System ELAVL3 1995 broad.mit.edu 37 19 11565638 11565638 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:11565638G>A uc002mry.1 - 7 1187 c.807C>T c.(805-807)GGC>GGT p.G269G ELAVL3_uc002mrx.1_Silent_p.G262G NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 269 cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 CGCCCGCCAGGCCGCTCATAC 0.577000 ZNF700 90592 broad.mit.edu 37 19 12059372 12059372 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:12059372G>A uc002msu.2 + 4 659 c.533G>A c.(532-534)CGC>CAC p.R178H ZNF700_uc010xme.1_Missense_Mutation_p.R196H|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTCAGGTATCGCCCATCCATT 0.403000 DAND5 199699 broad.mit.edu 37 19 13084268 13084268 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:13084268C>A uc002mwc.1 + 2 433 c.390C>A c.(388-390)TCC>TCA p.S130S DAND5_uc010dyz.1_3'UTR NM_152654 NP_689867 Q8N907 DAND5_HUMAN dante precursor 130 CTCK. extracellular region ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) GTCATTGCTCCTCTCTCTACA 0.627000 CC2D1A 54862 broad.mit.edu 37 19 14034616 14034616 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:14034616C>T uc002mxo.2 + 17 2231 c.1932C>T c.(1930-1932)AGC>AGT p.S644S CC2D1A_uc002mxp.2_Silent_p.S644S|CC2D1A_uc010dzh.2_Silent_p.S213S|CC2D1A_uc002mxq.1_Silent_p.S289S NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 644 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGACCTTCAGCGTCATCAAGT 0.622000 DCAF15 90379 broad.mit.edu 37 19 14067019 14067019 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:14067019C>T uc002mxt.2 + 5 564 c.558C>T c.(556-558)GCC>GCT p.A186A PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank NM_138353 NP_612362 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 186 central_nervous_system(1) 1 GCACCGTGGCCGTGCCACCGC 0.677000 PKN1 5585 broad.mit.edu 37 19 14581440 14581440 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:14581440C>T uc002myp.2 + 20 2658 c.2490C>T c.(2488-2490)GAC>GAT p.D830D PKN1_uc002myq.2_Silent_p.D836D|PKN1_uc002myr.2_Silent_p.D170D NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 830 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 TCGTCAACGACGAGGTTCGCT 0.682000 CYP4F22 126410 broad.mit.edu 37 19 15651358 15651358 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:15651358C>T uc002nbh.3 + 8 936 c.769C>T c.(769-771)CGC>TGC p.R257C NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 257 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 CATTTACTACCGCTCGGCGGA 0.582000 SIN3B 23309 broad.mit.edu 37 19 16980624 16980624 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:16980624G>A uc002ney.1 + 14 2270 c.2256G>A c.(2254-2256)CCG>CCA p.P752P SIN3B_uc002nez.1_Silent_p.P720P|SIN3B_uc010xpi.1_Silent_p.P310P NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 752 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 GGGATGCCCCGGCCACTGAGC 0.662000 CPAMD8 27151 broad.mit.edu 37 19 17038831 17038831 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:17038831C>T uc002nfb.2 - 25 3531 c.3499G>A c.(3499-3501)GCC>ACC p.A1167T NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1120 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 ATGATGGAGGCGGTGGCTCGC 0.622000 PIK3R2 5296 broad.mit.edu 37 19 18273010 18273010 + Splice_Site SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:18273010A>G uc002nia.1 + 8 1414 c.902_splice c.e8-2 p.A301_splice PIK3R2_uc002nib.1_Splice_Site|PIK3R2_uc010ebi.1_Splice_Site NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 CCTGTCCCCCAGCGCTGCCGC 0.627000 LRRC25 126364 broad.mit.edu 37 19 18502843 18502843 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:18502843C>T uc002niw.2 - 2 1514 c.872G>A c.(871-873)GGC>GAC p.G291D LRRC25_uc002nix.2_Missense_Mutation_p.G291D NM_145256 NP_660299 Q8N386 LRC25_HUMAN leucine rich repeat containing 25 precursor 291 Cytoplasmic (Potential). integral to membrane 0 TGGGGCCTGGCCCAGTGACTG 0.532000 NCAN 1463 broad.mit.edu 37 19 19338531 19338531 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:19338531C>G uc002nlz.2 + 8 2201 c.2102C>G c.(2101-2103)CCC>CGC p.P701R NCAN_uc010ecc.1_Missense_Mutation_p.P265R NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 701 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) CCTGAGTCCCCCAGGGCAGAC 0.587000 ZNF14 7561 broad.mit.edu 37 19 19822525 19822525 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:19822525T>C uc002nnk.1 - 4 1719 c.1565A>G c.(1564-1566)GAA>GGA p.E522G NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 522 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) GTGAATTTTTTCATGTTCTCG 0.408000 ZNF626 199777 broad.mit.edu 37 19 20808310 20808310 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:20808310C>T uc002npb.1 - 4 523 c.373G>A c.(373-375)GTG>ATG p.V125M ZNF626_uc002npc.1_Missense_Mutation_p.V49M NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TCTTTGTGCACCTTACACTCA 0.318000 CHST8 64377 broad.mit.edu 37 19 34263898 34263898 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:34263898G>A uc002nus.3 + 5 1710 c.1205G>A c.(1204-1206)CGC>CAC p.R402H CHST8_uc002nut.3_Missense_Mutation_p.R402H|CHST8_uc002nuu.2_Missense_Mutation_p.R402H NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 402 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) CAAAGGCAGCGCACCTACGAC 0.622000 LSR 51599 broad.mit.edu 37 19 35741230 35741230 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:35741230C>T uc002nyl.2 + 2 489 c.266C>T c.(265-267)GCC>GTC p.A89V LSR_uc002nym.2_Missense_Mutation_p.A89V|LSR_uc002nyn.2_Missense_Mutation_p.A89V|LSR_uc002nyo.2_Missense_Mutation_p.A89V|LSR_uc010xsr.1_Missense_Mutation_p.A89V|LSR_uc002nyp.2_Missense_Mutation_p.A52V NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 89 Extracellular (Potential).|Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCTGCCAGGGCCATCCAGGTG 0.612000 USF2 7392 broad.mit.edu 37 19 35761435 35761435 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:35761435C>T uc002nyq.1 + 5 624 c.515C>T c.(514-516)GCG>GTG p.A172V USF2_uc010xss.1_Missense_Mutation_p.A172V|USF2_uc002nyr.1_Missense_Mutation_p.A105V|USF2_uc002nys.1_5'UTR|USF2_uc002nyt.1_Intron|USF2_uc002nyu.1_5'UTR|USF2_uc002nyv.1_5'UTR NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 172 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 0 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) TATTTCCCAGCGTCCAGTGTG 0.597000 MAG 4099 broad.mit.edu 37 19 35791272 35791272 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:35791272G>A uc002nyy.1 + 6 1084 c.935G>A c.(934-936)GGC>GAC p.G312D MAG_uc002nyx.1_Missense_Mutation_p.G312D|MAG_uc010eds.1_Missense_Mutation_p.G287D|MAG_uc002nyz.1_Missense_Mutation_p.G312D NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 312 Ig-like C2-type 2.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) AATGCCTATGGCCAGGACAAC 0.662000 GAPDHS 26330 broad.mit.edu 37 19 36027833 36027833 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:36027833C>T uc002oaf.1 + 2 302 c.186C>T c.(184-186)CCC>CCT p.P62P NM_014364 NP_055179 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, 62 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) CTCCTCACCCCGCTACTCCTC 0.592000 MLL4 9757 broad.mit.edu 37 19 36216189 36216189 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:36216189C>T uc010eei.2 + 12 3597 c.3597C>T c.(3595-3597)GGC>GGT p.G1199G NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1199 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCCAGGGGGCCCCCCGATGG 0.602000 LRFN3 79414 broad.mit.edu 37 19 36430331 36430331 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:36430331G>A uc002oco.2 + 2 456 c.4G>A c.(4-6)GCC>ACC p.A2T NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 2 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCCGCGATGGCCATCCTCCC 0.697000 ZNF569 148266 broad.mit.edu 37 19 37917233 37917233 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:37917233C>T uc002ogi.2 - 4 621 c.63G>A c.(61-63)GAG>GAA p.E21E ZNF569_uc002ogh.2_Intron|ZNF569_uc002ogj.2_Silent_p.E45E NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATCTCTTCCACTCCTCCTGAG 0.398000 SIPA1L3 23094 broad.mit.edu 37 19 38621191 38621191 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:38621191C>T uc002ohk.2 + 10 3431 c.2922C>T c.(2920-2922)CTC>CTT p.L974L NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 974 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGAACGGGCTCGGGCAGCTGG 0.667000 ACTN4 81 broad.mit.edu 37 19 39191313 39191313 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:39191313G>A uc002oja.1 + 2 295 c.236G>A c.(235-237)CGA>CAA p.R79Q ACTN4_uc010egc.1_Missense_Mutation_p.R79Q NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 79 Actin-binding.|CH 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) GAGGACTTCCGAGACGGGCTC 0.607000 C19orf47 126526 broad.mit.edu 37 19 40832311 40832311 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:40832311G>A uc002oni.3 - 7 634 c.633C>T c.(631-633)TAC>TAT p.Y211Y C19orf47_uc002ong.2_Silent_p.Y70Y|C19orf47_uc002onh.2_Silent_p.Y144Y NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 211 ovary(1)|skin(1) 2 Lung(22;0.000636) TGTTGATGACGTACTTCCCCT 0.647000 CYP2A6 1548 broad.mit.edu 37 19 41349705 41349705 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:41349705C>T uc002opl.3 - 9 1502 c.1481G>A c.(1480-1482)CGC>CAC p.R494H NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 494 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CCTCGCTCAGCGGGGCAGGAA 0.652000 AXL 558 broad.mit.edu 37 19 41726691 41726691 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:41726691C>T uc010ehj.2 + 2 426 c.236C>T c.(235-237)GCG>GTG p.A79V CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.A79V|AXL_uc010ehk.2_Missense_Mutation_p.A79V NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 79 Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 CTGGAGCTCGCGGACAGCACC 0.637000 PSG11 5680 broad.mit.edu 37 19 43519387 43519387 + Nonsense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:43519387G>T uc002ovm.1 - 4 952 c.845C>A c.(844-846)TCA>TAA p.S282* PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Nonsense_Mutation_p.S288*|PSG11_uc002ovo.1_Nonsense_Mutation_p.S160*|PSG11_uc002ovp.1_Nonsense_Mutation_p.S160* NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 282 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) CTTTTGTCCTGATAGCTGAAA 0.468000 ZNF428 126299 broad.mit.edu 37 19 44111887 44111887 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:44111887T>C uc002oxa.2 - 3 884 c.449A>G c.(448-450)GAG>GGG p.E150G SRRM5_uc002oxb.2_Intron NM_182498 NP_872304 Q96B54 ZN428_HUMAN zinc finger protein 428 150 Glu-rich. intracellular zinc ion binding 0 Prostate(69;0.0153) ctcctcctcctccCGCCCAGC 0.557000 ZNF284 342909 broad.mit.edu 37 19 44590402 44590402 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:44590402A>C uc002oyg.1 + 5 987 c.771A>C c.(769-771)AAA>AAC p.K257N ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) CAGGAGAAAAACCTCATATTT 0.418000 BCAM 4059 broad.mit.edu 37 19 45316790 45316790 + Missense_Mutation SNP G G A rs144233028 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:45316790G>A uc002ozu.2 + 6 741 c.697G>A c.(697-699)GCC>ACC p.A233T BCAM_uc002ozt.1_Missense_Mutation_p.A233T NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 233 Extracellular (Potential).|Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TGACCGAGACGCCAGCTTCCA 0.697000 NKPD1 284353 broad.mit.edu 37 19 45656240 45656240 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:45656240C>T uc010xxi.1 - 4 1455 c.1455G>A c.(1453-1455)GCG>GCA p.A485A NM_198478 NP_940880 NTPase, KAP family P-loop domain containing 1 0 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) AGATGAAGGGCGCGTGGCTGT 0.662000 RTN2 6253 broad.mit.edu 37 19 45992808 45992808 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:45992808G>A uc002pcb.2 - 6 1265 c.1037C>T c.(1036-1038)GCG>GTG p.A346V RTN2_uc002pcc.2_Missense_Mutation_p.A273V|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 346 Reticulon. integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CAGCAGGTCCGCCACTGTGGA 0.592000 IGFL4 444882 broad.mit.edu 37 19 46543796 46543796 + Nonsense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:46543796G>C uc002pdy.1 - 2 104 c.50C>G c.(49-51)TCA>TGA p.S17* NM_001002923 NP_001002923 Q6B9Z1 IGFL4_HUMAN IGF-like family member 4 precursor 17 extracellular region 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) TTCTGAGTTTGAACCCAAAAG 0.517000 CYTH2 9266 broad.mit.edu 37 19 48977274 48977274 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:48977274G>T uc002pjj.3 + 6 847 c.547G>T c.(547-549)GAC>TAC p.D183Y CYTH2_uc002pji.2_RNA NM_017457 NP_059431 Q99418 CYH2_HUMAN cytohesin 2 isoform 1 183 SEC7. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 CCAGTCCACAGGtgcgggccc 0.303000 AP2A1 160 broad.mit.edu 37 19 50309974 50309974 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:50309974G>A uc002ppn.2 + 24 3104 c.2893G>A c.(2893-2895)GTC>ATC p.V965I AP2A1_uc002ppo.2_Missense_Mutation_p.V943I|AP2A1_uc010enk.2_Missense_Mutation_p.V96I NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 965 ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214). axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CAAGGAGCCCGTCTCCCGTCA 0.667000 MED25 81857 broad.mit.edu 37 19 50339096 50339096 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:50339096G>A uc002ppw.1 + 16 1912 c.1859G>A c.(1858-1860)GGC>GAC p.G620D MED25_uc010ybe.1_Missense_Mutation_p.G407D|MED25_uc002ppx.1_Missense_Mutation_p.G401D NM_030973 NP_112235 Q71SY5 MED25_HUMAN mediator complex subunit 25 620 Interaction with RARA.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ovary(1) 1 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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) GCCCCTCAAGGCCCTCCTGGA 0.716000 SYT3 84258 broad.mit.edu 37 19 51136065 51136065 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:51136065A>C uc002pst.2 - 2 786 c.152T>G c.(151-153)ATC>AGC p.I51S SYT3_uc002psv.2_Missense_Mutation_p.I51S|SYT3_uc010ycd.1_Missense_Mutation_p.I51S NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 51 Vesicular (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GCTCACGGAGATGTCTGGAGA 0.512000 KLK2 3817 broad.mit.edu 37 19 51379894 51379894 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:51379894C>T uc002ptv.2 + 3 414 c.373C>T c.(373-375)CGC>TGC p.R125C KLK2_uc010eog.2_Missense_Mutation_p.R23C|KLK2_uc010yck.1_Missense_Mutation_p.R125C|KLK2_uc002ptu.2_Missense_Mutation_p.R125C|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.R108C|KLK2_uc010ycm.1_Missense_Mutation_p.R23C|KLK2_uc010eoh.2_Missense_Mutation_p.R23C NM_005551 NP_005542 P20151 KLK2_HUMAN kallikrein 2, prostatic isoform 1 125 Peptidase S1. proteolysis serine-type endopeptidase activity ovary(1)|skin(1) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) CATGCTGCTCCGCCTGTCAGA 0.587000 T ETV4 prostate KLK7 5650 broad.mit.edu 37 19 51483543 51483543 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:51483543C>T uc002puo.2 - 4 524 c.422G>A c.(421-423)GGA>GAA p.G141E KLK7_uc002pup.2_Missense_Mutation_p.G141E|KLK7_uc010yco.1_Missense_Mutation_p.G15E|KLK7_uc010eok.2_Missense_Mutation_p.G69E NM_139277 NP_644806 P49862 KLK7_HUMAN stratum corneum chymotryptic enzyme 141 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) ACAGGTGGTTCCAGGGGGTTC 0.458000 ZNF808 388558 broad.mit.edu 37 19 53050772 53050772 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:53050772T>C uc010epq.1 + 4 248 c.71T>C c.(70-72)TTG>TCG p.L24S ZNF808_uc002pzq.2_Intron NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) TAGGGACGCTTGACTTTCAGG 0.393000 NLRP11 204801 broad.mit.edu 37 19 56320425 56320425 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:56320425C>A uc010ygf.1 - 5 2262 c.1551G>T c.(1549-1551)ATG>ATT p.M517I NLRP11_uc002qlz.2_Missense_Mutation_p.M418I|NLRP11_uc002qmb.2_Missense_Mutation_p.M418I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 517 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) AGCTGTCTACCATCGGTAGCT 0.408000 ZNF71 58491 broad.mit.edu 37 19 57134038 57134038 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:57134038G>A uc002qnm.3 + 3 1621 c.1383G>A c.(1381-1383)ACG>ACA p.T461T NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 461 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GGATCCACACGGGCGAGAAGC 0.637000 ZNF135 7694 broad.mit.edu 37 19 58579087 58579087 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:58579087G>A uc010yhq.1 + 5 1367 c.1271G>A c.(1270-1272)TGT>TAT p.C424Y ZNF135_uc002qre.2_Missense_Mutation_p.C412Y|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.C370Y|ZNF135_uc002qrg.2_Missense_Mutation_p.C382Y|ZNF135_uc010yhr.1_Missense_Mutation_p.C233Y NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 424 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CCCTATGAGTGTGGTGAGTGT 0.537000 ZBTB45 84878 broad.mit.edu 37 19 59028938 59028938 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:59028938C>T uc002qtd.2 - 2 395 c.103G>A c.(103-105)GTG>ATG p.V35M ZBTB45_uc002qte.2_Missense_Mutation_p.V35M|ZBTB45_uc002qtf.2_Missense_Mutation_p.V35M NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 35 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CGCACAGTCACGTCACAGAAG 0.612000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PXDN 7837 broad.mit.edu 37 2 1652889 1652889 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:1652889C>T uc002qxa.2 - 17 2727 c.2663G>A c.(2662-2664)GGC>GAC p.G888D NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 888 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) CGAAGTCATGCCGCTGCCGCA 0.632000 TTC15 51112 broad.mit.edu 37 2 3392378 3392378 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:3392378C>T uc002qxm.1 + 2 1190 c.984C>T c.(982-984)CGC>CGT p.R328R TTC15_uc002qxn.1_Silent_p.R328R|TTC15_uc010ewm.1_Silent_p.R328R|TTC15_uc002qxl.1_Silent_p.R328R NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 328 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) CCCAGCAGCGCGGCGCCGTGT 0.697000 LPIN1 23175 broad.mit.edu 37 2 11907961 11907961 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:11907961G>A uc010yjn.1 + 4 539 c.265G>A c.(265-267)GTT>ATT p.V89I LPIN1_uc010yjm.1_Missense_Mutation_p.V138I|LPIN1_uc002rbt.2_Missense_Mutation_p.V89I|LPIN1_uc002rbs.2_Missense_Mutation_p.V89I NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 89 N-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) AGCATTTTTTGTTCAAGAAAC 0.393000 NBAS 51594 broad.mit.edu 37 2 15534390 15534390 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:15534390C>T uc002rcc.1 - 28 3244 c.3218G>A c.(3217-3219)CGC>CAC p.R1073H NBAS_uc010exl.1_Missense_Mutation_p.R145H|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1073 ovary(2)|liver(1)|skin(1) 4 CATCAGCTTGCGTGCCTCTTC 0.338000 DTNB 1838 broad.mit.edu 37 2 25650468 25650468 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:25650468G>A uc002rgh.2 - 15 1740 c.1490C>T c.(1489-1491)TCG>TTG p.S497L DTNB_uc002rgg.2_Missense_Mutation_p.S126L|DTNB_uc010yko.1_Missense_Mutation_p.S440L|DTNB_uc010ykp.1_Missense_Mutation_p.S293L|DTNB_uc002rgo.2_Missense_Mutation_p.S288L|DTNB_uc002rgi.2_Missense_Mutation_p.S497L|DTNB_uc002rgj.2_Missense_Mutation_p.S497L|DTNB_uc002rgk.2_Missense_Mutation_p.S467L|DTNB_uc002rgl.2_Missense_Mutation_p.S467L|DTNB_uc002rgq.2_Missense_Mutation_p.S497L|DTNB_uc002rgm.2_Missense_Mutation_p.S467L|DTNB_uc002rgn.2_Missense_Mutation_p.S293L|DTNB_uc002rgr.1_Missense_Mutation_p.S486L|DTNB_uc010ykq.1_Missense_Mutation_p.S350L|DTNB_uc002rgp.1_Missense_Mutation_p.S2L NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 497 Potential. cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCAGGGCCGACATCCTCTG 0.473000 OTOF 9381 broad.mit.edu 37 2 26699057 26699057 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:26699057C>A uc002rhk.2 - 23 2932 c.2805G>T c.(2803-2805)GAG>GAT p.E935D OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.E188D|OTOF_uc002rhi.2_Missense_Mutation_p.E245D|OTOF_uc002rhj.2_Missense_Mutation_p.E188D NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 935 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCCTTGACCTCCTGGAAGC 0.652000 PREB 10113 broad.mit.edu 37 2 27355197 27355197 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:27355197T>C uc002rix.1 - 6 1080 c.827A>G c.(826-828)CAG>CGG p.Q276R PREB_uc002riy.1_Missense_Mutation_p.Q204R|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Intron NM_013388 NP_037520 Q9HCU5 PREB_HUMAN prolactin regulatory element binding protein 276 Cytoplasmic (Potential). COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGAGGGGGCTGGCGCAGGCG 0.622000 SLC5A6 8884 broad.mit.edu 37 2 27426696 27426696 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:27426696G>A uc002rjd.2 - 10 1436 c.1045C>T c.(1045-1047)CCA>TCA p.P349S SLC5A6_uc010eyv.1_Missense_Mutation_p.P349S NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 349 Helical; (Potential). biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GGCAGGCCTGGCAGGCCCTTC 0.587000 CCDC88A 55704 broad.mit.edu 37 2 55544857 55544857 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:55544857G>A uc002ryv.2 - 20 4284 c.3442C>T c.(3442-3444)CTA>TTA p.L1148L CCDC88A_uc010yoz.1_Silent_p.L1149L|CCDC88A_uc010ypa.1_Silent_p.L1148L|CCDC88A_uc002ryu.2_Silent_p.L431L|CCDC88A_uc002rys.2_Silent_p.L134L|CCDC88A_uc002ryw.2_Silent_p.L432L|CCDC88A_uc010fby.1_Silent_p.L28L NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1149 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 AGAGATTTTAGGTCTTCTCGC 0.388000 SERTAD2 9792 broad.mit.edu 37 2 64863927 64863927 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:64863927C>T uc002sde.1 - 2 376 c.79G>A c.(79-81)GGT>AGT p.G27S NM_014755 NP_055570 Q14140 SRTD2_HUMAN SERTA domain containing 2 27 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus 0 TTGGATGGACCGTCACAGGGA 0.488000 TEX261 113419 broad.mit.edu 37 2 71216123 71216123 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:71216123G>T uc002shn.2 - 5 511 c.397C>A c.(397-399)CTG>ATG p.L133M TEX261_uc010fdy.2_Missense_Mutation_p.L86M NM_144582 NP_653183 Q6UWH6 TX261_HUMAN testis expressed sequence 261 133 Helical; (Potential). integral to membrane 0 ATTATCCACAGGCAGAAAGTG 0.562000 DYSF 8291 broad.mit.edu 37 2 71797446 71797446 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:71797446C>T uc002sie.2 + 28 3389 c.3013C>T c.(3013-3015)CGG>TGG p.R1005W DYSF_uc010feg.2_Missense_Mutation_p.R1036W|DYSF_uc010feh.2_Missense_Mutation_p.R991W|DYSF_uc002sig.3_Missense_Mutation_p.R991W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1005W|DYSF_uc010fef.2_Missense_Mutation_p.R1022W|DYSF_uc010fei.2_Missense_Mutation_p.R1022W|DYSF_uc010fek.2_Missense_Mutation_p.R1023W|DYSF_uc010fej.2_Missense_Mutation_p.R992W|DYSF_uc010fel.2_Missense_Mutation_p.R992W|DYSF_uc010feo.2_Missense_Mutation_p.R1037W|DYSF_uc010fem.2_Missense_Mutation_p.R1006W|DYSF_uc010fen.2_Missense_Mutation_p.R1023W|DYSF_uc002sif.2_Missense_Mutation_p.R1006W NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1005 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 AGACCTCAACCGGGCTGTCGA 0.592000 DYSF 8291 broad.mit.edu 37 2 71801367 71801367 + Missense_Mutation SNP G G A rs34660230 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:71801367G>A uc002sie.2 + 30 3590 c.3214G>A c.(3214-3216)GCC>ACC p.A1072T DYSF_uc010feg.2_Missense_Mutation_p.A1103T|DYSF_uc010feh.2_Missense_Mutation_p.A1058T|DYSF_uc002sig.3_Missense_Mutation_p.A1058T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A1072T|DYSF_uc010fef.2_Missense_Mutation_p.A1089T|DYSF_uc010fei.2_Missense_Mutation_p.A1089T|DYSF_uc010fek.2_Missense_Mutation_p.A1090T|DYSF_uc010fej.2_Missense_Mutation_p.A1059T|DYSF_uc010fel.2_Missense_Mutation_p.A1059T|DYSF_uc010feo.2_Missense_Mutation_p.A1104T|DYSF_uc010fem.2_Missense_Mutation_p.A1073T|DYSF_uc010fen.2_Missense_Mutation_p.A1090T|DYSF_uc002sif.2_Missense_Mutation_p.A1073T|DYSF_uc010yqy.1_5'Flank NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1072 Cytoplasmic (Potential).|Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CTGGGAGTACGCCTCTCTTTT 0.662000 FBXO41 150726 broad.mit.edu 37 2 73487661 73487661 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:73487661G>A uc002sjb.1 - 11 2488 c.2488C>T c.(2488-2490)CGG>TGG p.R830W NM_001080410 NP_001073879 Q8TF61 FBX41_HUMAN F-box protein 41 769 intracellular protein binding|zinc ion binding breast(2)|pancreas(1) 3 ACCTGCAGCCGCATGCAGTTT 0.627000 DCTN1 1639 broad.mit.edu 37 2 74597439 74597439 + Silent SNP C C T rs72659373 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:74597439C>T uc002skx.2 - 12 1472 c.1161G>A c.(1159-1161)GAG>GAA p.E387E DCTN1_uc002skv.2_Silent_p.E253E|DCTN1_uc002sku.2_Silent_p.E253E|DCTN1_uc002skw.1_Silent_p.E363E|DCTN1_uc010ffd.2_Silent_p.E367E|DCTN1_uc002sky.2_Silent_p.E350E NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 387 Potential. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 GCTTCACATGCTCCTGCTTCT 0.547000 KCMF1 56888 broad.mit.edu 37 2 85280302 85280302 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:85280302C>T uc002sox.3 + 7 1260 c.916C>T c.(916-918)CGC>TGC p.R306C NM_020122 NP_064507 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 306 intracellular ligase activity|zinc ion binding ovary(2) 2 TGAAACGGAGCGCCAGTCCAT 0.448000 C2orf51 200523 broad.mit.edu 37 2 88828731 88828731 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:88828731C>A uc002stb.1 + 4 424 c.282C>A c.(280-282)GCC>GCA p.A94A NM_152670 NP_689883 Q96LM6 TSC21_HUMAN chromosome 2 open reading frame 51 94 nucleus skin(1) 1 AACATGAGGCCACGAGGGAGG 0.582000 EIF2AK3 9451 broad.mit.edu 37 2 88885399 88885399 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:88885399G>A uc002stc.3 - 9 1812 c.1610C>T c.(1609-1611)ACG>ATG p.T537M NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 537 Cytoplasmic (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 CACAATAAACGTTGTTGCTAT 0.333000 ASTL 431705 broad.mit.edu 37 2 96789817 96789817 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:96789817T>G uc010yui.1 - 9 1068 c.1068A>C c.(1066-1068)GCA>GCC p.A356A NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 356 proteolysis metalloendopeptidase activity|zinc ion binding 0 CCGAGGCCTCTGCACTGAGCT 0.672000 CHST10 9486 broad.mit.edu 37 2 101023061 101023061 + Missense_Mutation SNP G G A rs148953500 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:101023061G>A uc002tam.2 - 3 436 c.77C>T c.(76-78)ACG>ATG p.T26M NM_004854 NP_004845 O43529 CHSTA_HUMAN HNK-1 sulfotransferase 26 Helical; Signal-anchor for type II membrane protein; (Potential). carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction ovary(1) 1 AAAGGTCAACGTGATGAACTT 0.473000 NPAS2 4862 broad.mit.edu 37 2 101606806 101606806 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:101606806C>A uc002tap.1 + 18 2202 c.1916C>A c.(1915-1917)GCT>GAT p.A639D NPAS2_uc010yvt.1_Missense_Mutation_p.A704D|NPAS2_uc010fit.1_Intron NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 639 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 AGCGCCACAGCTGCGCTCCCG 0.612000 GPR45 11250 broad.mit.edu 37 2 105858503 105858503 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:105858503C>T uc002tco.1 + 1 304 c.188C>T c.(187-189)CCG>CTG p.P63L NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 63 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 TACCAGAGGCCGGCTATGCGC 0.622000 CKAP2L 150468 broad.mit.edu 37 2 113514492 113514492 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:113514492C>T uc002tie.2 - 4 535 c.456G>A c.(454-456)CAG>CAA p.Q152Q CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 152 centrosome 0 CTGTTAACTGCTGCTTTGTAG 0.348000 INSIG2 51141 broad.mit.edu 37 2 118864334 118864334 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:118864334A>G uc002tlk.2 + 4 597 c.391A>G c.(391-393)ATA>GTA p.I131V INSIG2_uc010yye.1_Missense_Mutation_p.I23V|INSIG2_uc002tll.2_Missense_Mutation_p.I23V NM_016133 NP_057217 Q9Y5U4 INSI2_HUMAN insulin induced protein 2 131 Helical; (Potential). ER-nuclear sterol response pathway SREBP-SCAP-Insig complex ovary(1)|central_nervous_system(1) 2 CGATAACAACATACAGTTGTC 0.373000 STEAP3 55240 broad.mit.edu 37 2 120005667 120005667 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:120005667G>A uc002tlp.2 + 4 1062 c.905G>A c.(904-906)CGC>CAC p.R302H STEAP3_uc002tlq.2_Missense_Mutation_p.R312H|STEAP3_uc002tlr.2_Missense_Mutation_p.R302H|STEAP3_uc010fle.2_Missense_Mutation_p.R302H NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 302 Ferric oxidoreductase.|Cytoplasmic (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 CTACAGCACCGCAAGCAGATC 0.687000 GLI2 2736 broad.mit.edu 37 2 121684992 121684992 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:121684992C>T uc010flp.2 + 2 234 c.204C>T c.(202-204)CAC>CAT p.H68H GLI2_uc010yyu.1_Silent_p.H68H|GLI2_uc002tmp.1_Silent_p.H68H|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Silent_p.H68H|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Silent_p.H68H NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 68 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) ACATGCGACACCAGGAAGGAA 0.572000 TUBA3E 112714 broad.mit.edu 37 2 130951495 130951495 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:130951495G>T uc002tqv.2 - 4 1021 c.920C>A c.(919-921)CCT>CAT p.P307H NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 307 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) GCCATGGCGAGGGTCACACTT 0.582000 RAB3GAP1 22930 broad.mit.edu 37 2 135848572 135848572 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:135848572T>C uc002tuj.2 + 4 180 c.155T>C c.(154-156)ATA>ACA p.I52T RAB3GAP1_uc010fnf.2_Missense_Mutation_p.I52T|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 52 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) ATATAGGGTATATTTACTTCT 0.343000 ZRANB3 84083 broad.mit.edu 37 2 135988401 135988401 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:135988401G>A uc002tum.2 - 13 1753 c.1636C>T c.(1636-1638)CGG>TGG p.R546W ZRANB3_uc002tuk.2_Missense_Mutation_p.R89W|ZRANB3_uc002tul.2_Missense_Mutation_p.R546W NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 546 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) TTTTCCTCCCGGAATCTCTTT 0.368000 THSD7B 80731 broad.mit.edu 37 2 137988713 137988713 + Missense_Mutation SNP C C T rs61741154 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:137988713C>T uc002tva.1 + 7 1730 c.1730C>T c.(1729-1731)ACG>ATG p.T577M THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.T467M NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AGCGAGTGGACGGAGTGGTCA 0.517000 LRP1B 53353 broad.mit.edu 37 2 141607887 141607887 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:141607887A>T uc002tvj.1 - 29 5695 c.4723T>A c.(4723-4725)TTT>ATT p.F1575I LRP1B_uc010fnl.1_Missense_Mutation_p.F757I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1575 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAAAGAAGAAATTTTTTCATT 0.303000 TSP Lung(27;0.18) MBD5 55777 broad.mit.edu 37 2 149227818 149227818 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:149227818T>C uc002twm.3 + 9 3294 c.2306T>C c.(2305-2307)GTT>GCT p.V769A MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.V769A|MBD5_uc002twn.1_Missense_Mutation_p.V210A NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 769 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) ACTAACTTTGTTCACAGTAAC 0.473000 NEB 4703 broad.mit.edu 37 2 152347012 152347012 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:152347012G>A uc010fnx.2 - 147 19794 c.19603C>T c.(19603-19605)CGG>TGG p.R6535W NEB_uc002txr.2_Missense_Mutation_p.R2865W|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.R304W|NEB_uc002txq.2_Missense_Mutation_p.R414W|NEB_uc010zca.1_Missense_Mutation_p.R366W|NEB_uc010zcb.1_Missense_Mutation_p.R304W NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 6535 Interaction with SVIL. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GACTGCTCCCGGCTCCGGCGC 0.463000 KCNH7 90134 broad.mit.edu 37 2 163292018 163292018 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:163292018G>A uc002uch.1 - 8 1856 c.1644C>T c.(1642-1644)GGC>GGT p.G548G KCNH7_uc002uci.2_Silent_p.G541G NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 548 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) GAACAGCAGCGCCATATTCTG 0.463000 SCN2A 6326 broad.mit.edu 37 2 166245809 166245809 + Silent SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:166245809A>T uc002udc.2 + 27 5783 c.5493A>T c.(5491-5493)ATA>ATT p.I1831I SCN2A_uc002udd.2_Silent_p.I1831I|SCN2A_uc002ude.2_Silent_p.I1831I NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1831 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CTCTTCTCATAGCAAAACCCA 0.463000 SCN9A 6335 broad.mit.edu 37 2 167055493 167055493 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:167055493G>A uc010fpl.2 - 27 5964 c.5623C>T c.(5623-5625)CGG>TGG p.R1875W uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1886 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTTGTTTCCGTTTTAGTGTG 0.403000 XIRP2 129446 broad.mit.edu 37 2 168106617 168106617 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:168106617A>C uc002udx.2 + 8 8733 c.8715A>C c.(8713-8715)CAA>CAC p.Q2905H XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q2730H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q2683H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.Q251H NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2730 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGGGCATACAAGAGAAACAAG 0.383000 LRP2 4036 broad.mit.edu 37 2 170058203 170058203 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:170058203C>T uc002ues.2 - 44 8600 c.8387G>A c.(8386-8388)CGT>CAT p.R2796H NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2796 LDL-receptor class A 18.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GATAAACTCACGAGGTATGCA 0.433000 SATB2 23314 broad.mit.edu 37 2 200137257 200137257 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:200137257C>A uc002uuy.1 - 11 2696 c.1879G>T c.(1879-1881)GGG>TGG p.G627W SATB2_uc010fsq.1_Missense_Mutation_p.G509W|SATB2_uc002uuz.1_Missense_Mutation_p.G627W|SATB2_uc002uva.1_Missense_Mutation_p.G627W NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 627 Homeobox. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TGGAGGATCCCCAGGGCTTCT 0.547000 AOX1 316 broad.mit.edu 37 2 201473845 201473845 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:201473845T>A uc002uvx.2 + 11 1147 c.1046T>A c.(1045-1047)ATC>AAC p.I349N AOX1_uc010zhf.1_5'Flank|AOX1_uc010fsu.2_5'Flank NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 349 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GGGTCCCAGATCAGGAACATG 0.458000 ALS2 57679 broad.mit.edu 37 2 202626188 202626188 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:202626188C>T uc002uyo.2 - 4 885 c.529G>A c.(529-531)GGT>AGT p.G177S ALS2_uc002uyp.3_Missense_Mutation_p.G177S|ALS2_uc002uyq.2_Missense_Mutation_p.G177S|ALS2_uc002uyr.2_Missense_Mutation_p.G177S NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 177 RCC1 3. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 AACTGACAACCGGTACCCCAT 0.532000 PARD3B 117583 broad.mit.edu 37 2 205829969 205829969 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:205829969C>T uc002var.1 + 3 524 c.317C>T c.(316-318)ACA>ATA p.T106I PARD3B_uc010fub.1_Missense_Mutation_p.T106I|PARD3B_uc002vao.1_Missense_Mutation_p.T106I|PARD3B_uc002vap.1_Missense_Mutation_p.T106I|PARD3B_uc002vaq.1_Missense_Mutation_p.T106I NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 106 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCTTTTGAGACAGAAGTGGCC 0.468000 PARD3B 117583 broad.mit.edu 37 2 206023539 206023539 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:206023539G>A uc002var.1 + 11 1735 c.1528G>A c.(1528-1530)GGG>AGG p.G510R PARD3B_uc010fub.1_Missense_Mutation_p.G510R|PARD3B_uc002vao.1_Missense_Mutation_p.G510R|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.G510R NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 510 PDZ 3. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TGCTGGCCTCGGGGTGAGCTT 0.488000 RPE 6120 broad.mit.edu 37 2 210880764 210880764 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:210880764G>A uc002vdn.2 + 3 275 c.270G>A c.(268-270)CAG>CAA p.Q90Q RPE_uc002vdm.2_Silent_p.Q90Q|RPE_uc002vdo.2_Silent_p.Q22Q|RPE_uc010zjf.1_Silent_p.Q90Q|RPE_uc002vdp.2_Silent_p.Q19Q|RPE_uc010fup.2_Silent_p.Q22Q|RPE_uc002vdq.2_Silent_p.Q22Q|RPE_uc002vdr.2_Silent_p.Q22Q NM_199229 NP_954699 Q96AT9 RPE_HUMAN ribulose-5-phosphate-3-epimerase isoform 1 90 pentose-phosphate shunt cytosol metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity 0 Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431) GAGCCAATCAGTACACCTTTC 0.438000 SMARCAL1 50485 broad.mit.edu 37 2 217279576 217279576 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:217279576A>G uc002vgc.3 + 3 479 c.149A>G c.(148-150)AAG>AGG p.K50R SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.K50R|SMARCAL1_uc010fvg.2_Missense_Mutation_p.K50R NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 50 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) TTCCAGGCCAAGCAAGGCCCA 0.517000 Schimke_Immuno-Osseous_Dysplasia RNF25 64320 broad.mit.edu 37 2 219529010 219529010 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:219529010G>A uc002vit.2 - 10 1138 c.1050C>T c.(1048-1050)CCC>CCT p.P350P RNF25_uc010fvw.2_Silent_p.P238P NM_022453 NP_071898 Q96BH1 RNF25_HUMAN ring finger protein 25 350 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCTCCGTTCGGGCTGTCGCC 0.617000 CRYBA2 1412 broad.mit.edu 37 2 219855029 219855029 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:219855029A>C uc002vjj.1 - 5 574 c.539T>G c.(538-540)CTC>CGC p.L180R CRYBA2_uc002vjk.1_Missense_Mutation_p.L180R NM_057094 NP_476435 P53672 CRBA2_HUMAN crystallin, beta A2 180 Beta/gamma crystallin 'Greek key' 4. structural constituent of eye lens 0 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGTGTGCCGAGCTCACCGTA 0.612000 SPEG 10290 broad.mit.edu 37 2 220332024 220332024 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:220332024C>T uc010fwg.2 + 10 3010 c.3010C>T c.(3010-3012)CGT>TGT p.R1004C NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1004 Ig-like 4. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TTGGCTGTGCCGTGGCCGCCT 0.627000 FAM124B 79843 broad.mit.edu 37 2 225266179 225266179 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:225266179G>A uc002vnx.2 - 1 533 c.307C>T c.(307-309)CGG>TGG p.R103W FAM124B_uc002vnw.2_Missense_Mutation_p.R103W NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 103 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) AGCCTTCCCCGAGTGTCCTGG 0.592000 TM4SF20 79853 broad.mit.edu 37 2 228235653 228235653 + Missense_Mutation SNP G G T rs138005777 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:228235653G>T uc002vpb.2 - 2 265 c.227C>A c.(226-228)GCG>GAG p.A76E NM_024795 NP_079071 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 76 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) GTTGCAGCACGCTCTTTTTCT 0.428000 ITM2C 81618 broad.mit.edu 37 2 231740484 231740484 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:231740484C>T uc002vqz.2 + 3 531 c.411C>T c.(409-411)GGC>GGT p.G137G ITM2C_uc002vra.2_Silent_p.G90G|ITM2C_uc002vrb.2_Silent_p.G137G|ITM2C_uc002vrc.2_Silent_p.G26G|ITM2C_uc002vrd.2_Silent_p.G26G NM_030926 NP_112188 Q9NQX7 ITM2C_HUMAN integral membrane protein 2C isoform 1 137 BRICHOS. negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding 0 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;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) CCCAGTTTGGCGGCGGTGACC 0.632000 HJURP 55355 broad.mit.edu 37 2 234749823 234749823 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:234749823G>A uc002vvg.2 - 8 1669 c.1603C>T c.(1603-1605)CGC>TGC p.R535C HJURP_uc010znd.1_Missense_Mutation_p.R474C|HJURP_uc010zne.1_Missense_Mutation_p.R443C NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 535 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TGCTGCGGGCGAGTTGCGCTG 0.478000 UBE2F 140739 broad.mit.edu 37 2 238881818 238881818 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:238881818G>A uc002vxk.2 + 2 160 c.69G>A c.(67-69)GCG>GCA p.A23A UBE2F_uc010znn.1_Silent_p.A23A|UBE2F_uc002vxl.2_RNA|UBE2F_uc010zno.1_RNA|UBE2F_uc010znp.1_Silent_p.A23A|SCLY_uc002vxm.3_5'UTR NM_080678 NP_542409 Q969M7 UBE2F_HUMAN NEDD8-conjugating enzyme 23 Interaction with UBA3. protein neddylation ATP binding|NEDD8 ligase activity|protein binding 0 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) CAGCCACAGCGTCCGACTCGA 0.458000 ILKAP 80895 broad.mit.edu 37 2 239079235 239079235 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:239079235G>A uc002vxv.2 - 12 1251 c.1121C>T c.(1120-1122)GCG>GTG p.A374V ILKAP_uc010zns.1_Missense_Mutation_p.A306V|ILKAP_uc002vxw.2_Missense_Mutation_p.A254V NM_030768 NP_110395 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated protein 374 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding ovary(3) 3 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) CCGCTGCACCGCCTTGTTGGC 0.622000 OR6B2 389090 broad.mit.edu 37 2 240969019 240969019 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:240969019G>A uc002vyr.2 - 2 874 c.828C>T c.(826-828)GCC>GCT p.A276A OR6B2_uc010zoc.1_Silent_p.A276A NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) CAGTGTACACGGCAGAGATGA 0.488000 KIF1A 547 broad.mit.edu 37 2 241726711 241726711 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:241726711C>T uc002vzy.2 - 5 532 c.386G>A c.(385-387)CGG>CAG p.R129Q KIF1A_uc010fzk.2_Missense_Mutation_p.R129Q|KIF1A_uc002vzz.1_Missense_Mutation_p.R129Q NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 129 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GTCGTTGATCCGAGAGAAGAG 0.652000 ANO7 50636 broad.mit.edu 37 2 242135202 242135202 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:242135202G>T uc002wax.2 + 4 516 c.413G>T c.(412-414)AGG>ATG p.R138M ANO7_uc002waw.2_Missense_Mutation_p.R137M NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 138 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 GACATGCACAGGACCTGGCGG 0.612000 SEPT2 4735 broad.mit.edu 37 2 242265515 242265515 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:242265515A>G uc002wbc.2 + 4 538 c.117A>G c.(115-117)ACA>ACG p.T39T SEPT2_uc002wbd.2_Silent_p.T39T|SEPT2_uc002wbf.2_Silent_p.T39T|SEPT2_uc002wbg.2_Silent_p.T39T|SEPT2_uc002wbh.2_Silent_p.T39T|SEPT2_uc010zop.1_Silent_p.T74T NM_001008491 NP_001008491 Q15019 SEPT2_HUMAN septin 2 39 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(1) 1 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TTGAGTTCACACTGATGGTGG 0.373000 PTPRA 5786 broad.mit.edu 37 20 3007405 3007405 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:3007405C>T uc010zqd.1 + 17 2037 c.1720C>T c.(1720-1722)CGT>TGT p.R574C PTPRA_uc002whj.2_Missense_Mutation_p.R563C|PTPRA_uc002whk.2_Missense_Mutation_p.R554C|PTPRA_uc002whl.2_Missense_Mutation_p.R554C|PTPRA_uc002whm.2_Missense_Mutation_p.R330C|PTPRA_uc002whn.2_Missense_Mutation_p.R554C|PTPRA_uc002who.2_Missense_Mutation_p.R226C NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 563 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 GAAGAAGAACCGTGTTTTACA 0.468000 ProSAPiP1 9762 broad.mit.edu 37 20 3147530 3147530 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:3147530C>T uc002wia.1 - 1 1678 c.280G>A c.(280-282)GCC>ACC p.A94T ProSAPiP1_uc002wib.1_Missense_Mutation_p.A94T NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 94 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 AGGGAGTTGGCGAGACCCTTG 0.682000 ATRN 8455 broad.mit.edu 37 20 3543988 3543988 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:3543988A>G uc002wim.2 + 10 1854 c.1764A>G c.(1762-1764)TCA>TCG p.S588S ATRN_uc002wil.2_Silent_p.S588S NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 588 Extracellular (Potential).|Kelch 5. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 GCTTCTCTTCAGATTTCATGG 0.418000 CENPB 1059 broad.mit.edu 37 20 3766457 3766457 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:3766457A>G uc002wjk.2 - 1 881 c.674T>C c.(673-675)CTG>CCG p.L225P CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 225 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 CAGGACGCTCAGGCGCTGGGT 0.721000 ADRA1D 146 broad.mit.edu 37 20 4229294 4229294 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:4229294G>A uc002wkr.2 - 1 366 c.311C>T c.(310-312)GCA>GTA p.A104V NM_000678 NP_000669 P25100 ADA1D_HUMAN alpha-1D-adrenergic receptor 104 Helical; Name=1; (By similarity). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity 0 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) GATGAAGGCTGCCAGGAAGAc 0.303000 PLCB1 23236 broad.mit.edu 37 20 8698474 8698474 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:8698474G>A uc002wnb.2 + 14 1495 c.1492G>A c.(1492-1494)GAG>AAG p.E498K PLCB1_uc010zrb.1_Missense_Mutation_p.E397K|PLCB1_uc002wna.2_Missense_Mutation_p.E498K|PLCB1_uc002wnc.1_Missense_Mutation_p.E397K|PLCB1_uc002wnd.1_Missense_Mutation_p.E75K NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 498 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CAGCATGTTCGAGCCCTCATC 0.458000 RALGAPA2 57186 broad.mit.edu 37 20 20484084 20484084 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:20484084C>T uc002wrz.2 - 35 5262 c.5119G>A c.(5119-5121)GCC>ACC p.A1707T RALGAPA2_uc010gcx.2_Missense_Mutation_p.A1411T|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A1155T|RALGAPA2_uc002wsa.1_Missense_Mutation_p.A479T NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1707 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 TAGTAAGGGGCCGTCTGCCCG 0.517000 SSTR4 6754 broad.mit.edu 37 20 23016316 23016316 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:23016316G>T uc002wsr.2 + 1 260 c.196G>T c.(196-198)GCC>TCC p.A66S NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 66 Helical; Name=1; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGTGGGCAACGCCCTGGTCAT 0.507000 CD93 22918 broad.mit.edu 37 20 23065176 23065176 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:23065176C>T uc002wsv.2 - 1 1802 c.1654G>A c.(1654-1656)GCC>ACC p.A552T NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 552 Extracellular (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCAGCTGTGGCGTGATGGATG 0.617000 C20orf3 57136 broad.mit.edu 37 20 24952096 24952096 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:24952096G>A uc002wty.2 - 5 639 c.538C>T c.(538-540)CGT>TGT p.R180C C20orf3_uc002wtz.2_Missense_Mutation_p.R180C|C20orf3_uc010zsw.1_Missense_Mutation_p.R180C NM_020531 NP_065392 Q9HDC9 APMAP_HUMAN chromosome 20 open reading frame 3 180 Extracellular (Potential). biosynthetic process cell surface|integral to membrane arylesterase activity|strictosidine synthase activity ovary(1) 1 TGTCACATACGTTTCCAGGGA 0.418000 ACSS1 84532 broad.mit.edu 37 20 24994689 24994689 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:24994689C>T uc002wub.2 - 9 2238 c.1360G>A c.(1360-1362)GCA>ACA p.A454T ACSS1_uc002wuc.2_Missense_Mutation_p.A452T|ACSS1_uc010gdc.2_Missense_Mutation_p.A249T|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A371T NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 454 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGCCGTGGTGCGATGCAGATG 0.567000 NECAB3 63941 broad.mit.edu 37 20 32246607 32246607 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:32246607C>T uc002wzn.3 - 9 1019 c.913G>A c.(913-915)GCA>ACA p.A305T NECAB3_uc002wzl.2_Missense_Mutation_p.A50T|NECAB3_uc002wzm.3_Missense_Mutation_p.A271T|NECAB3_uc002wzo.3_RNA|NECAB3_uc002wzp.3_Missense_Mutation_p.A198T|NECAB3_uc002wzq.3_Missense_Mutation_p.A253T|NECAB3_uc002wzr.3_RNA|NECAB3_uc010geo.2_Missense_Mutation_p.A271T NM_031232 NP_112509 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 305 ABM. antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding lung(1) 1 CCTTCCTCTGCCACCTGGACC 0.672000 TP53INP2 58476 broad.mit.edu 37 20 33297184 33297184 + Missense_Mutation SNP G G A rs143925581 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:33297184G>A uc002xau.1 + 4 604 c.269G>A c.(268-270)CGC>CAC p.R90H NM_021202 NP_067025 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 90 nucleus 0 GGTCCCGCCCGCCTCCAGAGC 0.562000 GGT7 2686 broad.mit.edu 37 20 33450750 33450750 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:33450750C>T uc002xay.2 - 3 467 c.424G>A c.(424-426)GTG>ATG p.V142M GGT7_uc002xaz.1_Missense_Mutation_p.V159M|GGT7_uc002xba.1_Missense_Mutation_p.V142M NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 142 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 TCGGTCACCACGGCACCCTGC 0.612000 BPI 671 broad.mit.edu 37 20 36939000 36939000 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:36939000G>A uc002xib.2 + 4 556 c.494G>A c.(493-495)AGC>AAC p.S165N NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 165 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) ACCTGCTCCAGCTGCAGCAGC 0.552000 L3MBTL 26013 broad.mit.edu 37 20 42161428 42161428 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:42161428G>T uc010zwh.1 + 12 1280 c.1234G>T c.(1234-1236)GGC>TGC p.G412C L3MBTL_uc002xkl.2_Missense_Mutation_p.G344C|L3MBTL_uc002xkm.2_Missense_Mutation_p.G344C|L3MBTL_uc010ggl.2_Missense_Mutation_p.G344C|L3MBTL_uc002xkn.1_Missense_Mutation_p.G103C|L3MBTL_uc002xko.2_5'UTR NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 344 MBT 2. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCCACCCCTGGGCTTCCAGGT 0.602000 MMP9 4318 broad.mit.edu 37 20 44639956 44639956 + Splice_Site SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:44639956G>A uc002xqz.2 + 5 842 c.823_splice c.e5+1 p.R275_splice NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) CCCAGCGAGAGTGAGTGAGGG 0.512000 ARFGEF2 10564 broad.mit.edu 37 20 47567893 47567893 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:47567893G>A uc002xtx.3 + 4 462 c.310G>A c.(310-312)GCC>ACC p.A104T NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 104 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CACTGGCAACGCCCCTGACAG 0.512000 PTGIS 5740 broad.mit.edu 37 20 48156225 48156225 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:48156225C>T uc002xut.2 - 5 609 c.555G>A c.(553-555)GCG>GCA p.A185A PTGIS_uc010zyi.1_Silent_p.A46A NM_000961 NP_000952 Q16647 PTGIS_HUMAN prostaglandin I2 synthase 185 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) TGCGTGGCAGCGCCTCAATTC 0.632000 ATP9A 10079 broad.mit.edu 37 20 50235243 50235243 + Missense_Mutation SNP G G A rs138665384 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:50235243G>A uc002xwg.1 - 21 2308 c.2308C>T c.(2308-2310)CGC>TGC p.R770C ATP9A_uc010gih.1_Missense_Mutation_p.R634C|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 770 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 TGAAGCAGGCGCACGATCTGG 0.647000 MC3R 4159 broad.mit.edu 37 20 54824580 54824580 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:54824580C>T uc002xxb.2 + 1 793 c.681C>T c.(679-681)GCC>GCT p.A227A NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 264 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) TGCCACCTGCCGACGGGGTGG 0.602000 DIDO1 11083 broad.mit.edu 37 20 61525801 61525801 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:61525801C>A uc002ydr.1 - 11 2800 c.2536G>T c.(2536-2538)GCA>TCA p.A846S DIDO1_uc002yds.1_Missense_Mutation_p.A846S|DIDO1_uc002ydt.1_Missense_Mutation_p.A846S|DIDO1_uc002ydu.1_Missense_Mutation_p.A846S NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 846 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) AAGAGGTGTGCGCGGTGCTGA 0.512000 CHRNA4 1137 broad.mit.edu 37 20 61978135 61978135 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:61978135C>T uc002yes.2 - 6 2017 c.1839G>A c.(1837-1839)GGG>GGA p.G613G CHRNA4_uc002yet.1_Silent_p.G437G|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.G542G|CHRNA4_uc002yev.1_Silent_p.G437G|CHRNA4_uc010gkf.1_Silent_p.G437G NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 613 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GGCCCACCGTCCCCAGCAGGC 0.647000 MYT1 4661 broad.mit.edu 37 20 62838987 62838987 + Silent SNP C C T rs142929665 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:62838987C>T uc002yii.2 + 7 802 c.438C>T c.(436-438)ATC>ATT p.I146I MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 146 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CCAACCCCATCGGCAGCGCCA 0.562000 ADAMTS5 11096 broad.mit.edu 37 21 28337989 28337989 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:28337989T>A uc002ymg.2 - 1 1451 c.722A>T c.(721-723)CAG>CTG p.Q241L NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 241 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 GAGAGCGGACTGGTCCAAGAG 0.731000 RWDD2B 10069 broad.mit.edu 37 21 30380774 30380774 + Missense_Mutation SNP C C T rs146828876 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:30380774C>T uc002yms.2 - 2 323 c.236G>A c.(235-237)CGA>CAA p.R79Q RWDD2B_uc002ymt.2_Missense_Mutation_p.R50Q|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_5'UTR NM_016940 NP_058636 P57060 RWD2B_HUMAN RWD domain containing 2B 79 RWD. 0 TTTTGAAGATCGCCCCTCCAT 0.393000 KRTAP19-7 337974 broad.mit.edu 37 21 31933432 31933432 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:31933432A>C uc011adb.1 - 1 177 c.177T>G c.(175-177)TCT>TCG p.S59S NM_181614 NP_853645 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 59 intermediate filament 0 AGAATCCAGAAGACCAGTATC 0.443000 KRTAP11-1 337880 broad.mit.edu 37 21 32253783 32253783 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:32253783C>T uc002yov.2 - 1 92 c.61G>A c.(61-63)GTT>ATT p.V21I NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 21 keratin filament structural molecule activity pancreas(1) 1 GCCACTGGAACAATGCAGCGT 0.547000 HUNK 30811 broad.mit.edu 37 21 33370838 33370838 + Splice_Site SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:33370838G>A uc002yph.2 + 11 1847 c.1487_splice c.e11-1 p.D496_splice NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 TTGGTGTGCAGATTCCTTTGG 0.537000 SYNJ1 8867 broad.mit.edu 37 21 34012041 34012041 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:34012041G>A uc002yqh.2 - 30 3754 c.3754C>T c.(3754-3756)CGG>TGG p.R1252W SYNJ1_uc011ads.1_Missense_Mutation_p.R1166W|SYNJ1_uc002yqf.2_Missense_Mutation_p.R1197W|SYNJ1_uc002yqg.2_Missense_Mutation_p.R1166W|SYNJ1_uc002yqi.2_Missense_Mutation_p.R1252W|SYNJ1_uc002yqe.3_5'UTR NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1213 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 GCAGATGCCCGCGCGTGGCTC 0.413000 SLC5A3 6526 broad.mit.edu 37 21 35467627 35467627 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:35467627C>T uc002yto.2 + 2 642 c.130C>T c.(130-132)CGC>TGC p.R44C MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 44 Helical; (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 CCTGGCGGGGCGCTCTATGAC 0.488000 DSCAM 1826 broad.mit.edu 37 21 41559141 41559141 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:41559141C>T uc002yyq.1 - 14 3148 c.2696G>A c.(2695-2697)CGC>CAC p.R899H DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 899 Extracellular (Potential).|Fibronectin type-III 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CGTAATTGTGCGTGCTTTGAC 0.438000 RIPK4 54101 broad.mit.edu 37 21 43161712 43161712 + Silent SNP G G A rs150110999 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:43161712G>A uc002yzn.1 - 8 1689 c.1641C>T c.(1639-1641)CAC>CAT p.H547H NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 547 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 TCTCCTGCCCGTGCTGGCAGG 0.657000 UMODL1 89766 broad.mit.edu 37 21 43496223 43496223 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:43496223C>T uc002zaf.1 + 2 186 c.186C>T c.(184-186)GGC>GGT p.G62G UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Silent_p.G62G|uc002zah.1_RNA NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 62 Extracellular (Potential).|EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TGTCCTGCGGCGGCTGGATCC 0.607000 AIRE 326 broad.mit.edu 37 21 45706903 45706903 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:45706903C>T uc002zei.2 + 3 477 c.350C>T c.(349-351)GCC>GTC p.A117V NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 117 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) AAGCCCCCGGCCGTCCCCAAG 0.672000 Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy COL18A1 80781 broad.mit.edu 37 21 46888235 46888235 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr21:46888235C>T uc011afs.1 + 2 1452 c.1431C>T c.(1429-1431)CCC>CCT p.P477P COL18A1_uc002zhg.2_Silent_p.P62P|COL18A1_uc002zhi.2_Silent_p.P242P NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 477 TSP N-terminal. cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CGGATGACCCCGACGTCGGGC 0.632000 GAB4 128954 broad.mit.edu 37 22 17444669 17444669 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:17444669C>T uc002zlw.2 - 9 1635 c.1527G>A c.(1525-1527)CCG>CCA p.P509P NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 509 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) TGCTCCTCGGCGGGGCTGAAC 0.617000 MICAL3 57553 broad.mit.edu 37 22 18387473 18387473 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:18387473T>C uc002zng.3 - 3 750 c.397A>G c.(397-399)ACC>GCC p.T133A MICAL3_uc011agl.1_Missense_Mutation_p.T133A|MICAL3_uc002znh.2_Missense_Mutation_p.T133A|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.T133A|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.T133A|MICAL3_uc011agm.1_Missense_Mutation_p.T133A NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 133 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TCATGTATGGTGAATGGCCAG 0.483000 P2RX6 9127 broad.mit.edu 37 22 21372319 21372319 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:21372319G>A uc010gsu.1 + 3 357 c.357G>A c.(355-357)ACG>ACA p.T119T P2RX6_uc002ztz.2_Silent_p.T93T|P2RX6_uc010gst.1_3'UTR|P2RX6_uc002zua.2_Intron|P2RX6_uc002zuc.1_RNA NM_005446 NP_005437 O15547 P2RX6_HUMAN purinergic receptor P2X6 isoform 1 119 Extracellular (Potential). muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 TCCTTGTGACGCCAGCCCAAG 0.592000 RTDR1 27156 broad.mit.edu 37 22 23406130 23406130 + Silent SNP G G A rs117158573 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:23406130G>A uc002zwt.2 - 5 761 c.603C>T c.(601-603)AGC>AGT p.S201S NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 201 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TCTGGTTGGCGCTGAGGAGCT 0.612000 MMP11 4320 broad.mit.edu 37 22 24124566 24124566 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:24124566G>A uc002zxx.2 + 7 1251 c.1229G>A c.(1228-1230)CGT>CAT p.R410H MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_RNA NM_005940 NP_005931 P24347 MMP11_HUMAN matrix metalloproteinase 11 preproprotein 410 Hemopexin-like 3. collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|large_intestine(1) 3 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) GACTACTGGCGTTTCCACCCC 0.602000 CABIN1 23523 broad.mit.edu 37 22 24515545 24515545 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:24515545G>A uc002zzi.1 + 28 4639 c.4512G>A c.(4510-4512)CAG>CAA p.Q1504Q CABIN1_uc002zzj.1_Silent_p.Q1425Q|CABIN1_uc002zzl.1_Silent_p.Q1504Q NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1504 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 CTGAGGAGCAGCGGCAGTTTC 0.637000 SNRPD3 6634 broad.mit.edu 37 22 24964106 24964106 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:24964106G>T uc003aam.1 + 3 721 c.281G>T c.(280-282)GGG>GTG p.G94V SNRPD3_uc011aju.1_Missense_Mutation_p.G94V NM_004175 NP_004166 P62318 SMD3_HUMAN small nuclear ribonucleoprotein polypeptide D3 94 Arg/Lys-rich (basic). histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding ovary(1) 1 CAAGGCTCAGGGGCTGGCCGA 0.448000 ASCC2 84164 broad.mit.edu 37 22 30189452 30189452 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:30189452G>A uc003agr.2 - 17 1921 c.1816C>T c.(1816-1818)CCC>TCC p.P606S ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.P606S|ASCC2_uc011akr.1_Missense_Mutation_p.P530S NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CTGTGGTAGGGCAGGCTCTCG 0.607000 GAL3ST1 9514 broad.mit.edu 37 22 30951991 30951991 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:30951991G>A uc003aig.1 - 4 361 c.221C>T c.(220-222)CCG>CTG p.P74L GAL3ST1_uc003aih.1_Missense_Mutation_p.P74L|GAL3ST1_uc003aii.1_Missense_Mutation_p.P74L|GAL3ST1_uc010gvz.1_Missense_Mutation_p.P74L NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 74 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 GTTGCGCCGCGGCTGGCACTC 0.672000 DEPDC5 9681 broad.mit.edu 37 22 32270319 32270319 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:32270319G>A uc003als.2 + 35 3673 c.3531G>A c.(3529-3531)GCG>GCA p.A1177A DEPDC5_uc011als.1_Silent_p.A1108A|DEPDC5_uc011alu.1_Silent_p.A1208A|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.A1199A|DEPDC5_uc003alu.2_Silent_p.A626A|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Silent_p.A475A|DEPDC5_uc011alx.1_Silent_p.A25A|DEPDC5_uc010gwk.2_Silent_p.A203A|DEPDC5_uc011aly.1_Silent_p.A25A NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1177 DEP. intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 TCATCAGCGCGGAGGTGGTAC 0.592000 SSTR3 6753 broad.mit.edu 37 22 37602837 37602837 + Missense_Mutation SNP G G A rs4988469 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:37602837G>A uc003ara.2 - 2 1068 c.1006C>T c.(1006-1008)CGC>TGC p.R336C SSTR3_uc003arb.2_Missense_Mutation_p.R336C NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 336 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 TCCTGGCTGCGCACACGGCGG 0.542000 CYTH4 27128 broad.mit.edu 37 22 37699399 37699399 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:37699399C>T uc003arf.2 + 8 768 c.652C>T c.(652-654)CGC>TGC p.R218C CYTH4_uc003are.2_Missense_Mutation_p.R218C|CYTH4_uc011amw.1_Missense_Mutation_p.R161C|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 218 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GTCCATGAACCGCGGCATCAA 0.622000 ELFN2 114794 broad.mit.edu 37 22 37769395 37769395 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:37769395C>T uc003asq.3 - 3 2966 c.2180G>A c.(2179-2181)CGC>CAC p.R727H NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 727 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GAAGGACACGCGCTGGCTCAG 0.647000 SUN2 25777 broad.mit.edu 37 22 39146966 39146966 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:39146966G>A uc003awh.1 - 5 645 c.361C>T c.(361-363)CGC>TGC p.R121C SUN2_uc011anz.1_Missense_Mutation_p.R156C|SUN2_uc011aoa.1_Intron|SUN2_uc003awi.1_Missense_Mutation_p.R121C|SUN2_uc010gxq.1_Missense_Mutation_p.R121C|SUN2_uc010gxr.1_Missense_Mutation_p.R121C|SUN2_uc010gxs.1_Missense_Mutation_p.R121C NM_015374 NP_056189 Q9UH99 SUN2_HUMAN unc-84 homolog B 121 Nuclear.|Ser-rich.|LMNA-binding (By similarity). centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding large_intestine(1)|skin(1) 2 GTGGCCTTGCGCCCCACAAGC 0.662000 MGAT3 4248 broad.mit.edu 37 22 39883815 39883815 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:39883815G>A uc003axv.3 + 2 702 c.463G>A c.(463-465)GCC>ACC p.A155T MGAT3_uc010gxy.2_Missense_Mutation_p.A155T NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 155 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) CCTCCTGAGCGCCCGGGAGCG 0.766000 RANGAP1 5905 broad.mit.edu 37 22 41650390 41650390 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:41650390C>T uc003azs.2 - 10 2652 c.1182G>A c.(1180-1182)GAG>GAA p.E394E RANGAP1_uc003azt.2_Silent_p.E394E|RANGAP1_uc003azu.2_Silent_p.E394E|RANGAP1_uc003azr.2_5'Flank|RANGAP1_uc010gyk.2_5'Flank|RANGAP1_uc011aoz.1_Silent_p.E339E NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 394 Asp/Glu-rich (highly acidic).|Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 Gctcttcttcctcctcctcct 0.264000 ALG12 79087 broad.mit.edu 37 22 50304114 50304114 + Missense_Mutation SNP C C T rs121907932 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:50304114C>T uc003biy.2 - 4 711 c.437G>A c.(436-438)CGG>CAG p.R146Q NM_024105 NP_077010 Q9BV10 ALG12_HUMAN alpha-1,6-mannosyltransferase ALG12 146 Helical; (Potential). R -> Q (in CDG1G). dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane 0 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) GGGCAGTGTCCGCGTGCAGTA 0.637000 LMF2 91289 broad.mit.edu 37 22 50942825 50942825 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:50942825G>T uc003blp.2 - 12 1693 c.1662C>A c.(1660-1662)CCC>CCA p.P554P LMF2_uc010hba.2_Silent_p.P376P|LMF2_uc003blo.2_Silent_p.P529P NM_033200 NP_149977 Q9BU23 LMF2_HUMAN lipase maturation factor 2 554 endoplasmic reticulum membrane|integral to membrane breast(1) 1 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGACGTAGGTGGGCGGCTGCT 0.632000 C3orf32 51066 broad.mit.edu 37 3 8669438 8669438 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:8669438C>T uc003bqu.2 - 8 800 c.554G>A c.(553-555)CGC>CAC p.R185H C3orf32_uc003bqz.2_Missense_Mutation_p.R185H|C3orf32_uc003bqt.2_Missense_Mutation_p.R134H|C3orf32_uc011atg.1_Missense_Mutation_p.R207H|C3orf32_uc003bqv.2_Missense_Mutation_p.R134H|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.R185H NM_015931 NP_057015 Q9Y2M2 CC032_HUMAN hypothetical protein LOC51066 185 Cys-rich. skin(1) 1 CTTGGCTTTGCGCTTGGCTCC 0.667000 SLC6A6 6533 broad.mit.edu 37 3 14489254 14489254 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:14489254C>T uc010heg.2 + 12 820 c.529C>T c.(529-531)CGC>TGC p.R177C SLC6A6_uc003byp.2_Missense_Mutation_p.R177C|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Missense_Mutation_p.R177C|SLC6A6_uc003byr.2_RNA NM_001134367 NP_001127839 P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter 177 Extracellular (Potential). cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity ovary(1) 1 GGACACCATGCGCAAGAACAA 0.557000 MRPS25 64432 broad.mit.edu 37 3 15094033 15094033 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:15094033T>C uc003bzl.2 - 4 552 c.437A>G c.(436-438)CAG>CGG p.Q146R MRPS25_uc011avl.1_Missense_Mutation_p.R117G|MRPS25_uc011avm.1_Intron NM_022497 NP_071942 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 146 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 GCAGGGCACCTGCCCTTCCAC 0.592000 ZNF385D 79750 broad.mit.edu 37 3 21462764 21462764 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:21462764C>T uc003cce.2 - 8 1538 c.1130G>A c.(1129-1131)CGG>CAG p.R377Q NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 377 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 AGGAGCTGGCCGCAGGAGTGC 0.453000 NEK10 152110 broad.mit.edu 37 3 27183068 27183068 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:27183068C>T uc010hfk.2 - 12 1211 c.982G>A c.(982-984)GCA>ACA p.A328T NEK10_uc010hfj.2_Missense_Mutation_p.A271T Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 1016 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GCAATTCCTGCTGATGCTGTG 0.348000 NEK10 152110 broad.mit.edu 37 3 27346260 27346260 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:27346260G>A uc003cdt.1 - 13 1280 c.1006C>T c.(1006-1008)CAG>TAG p.Q336* NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 336 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TGAAGAAGCTGTTTGATGCCT 0.483000 CMTM7 112616 broad.mit.edu 37 3 32495741 32495741 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:32495741G>A uc003cey.1 + 5 759 c.523G>A c.(523-525)GTC>ATC p.V175I CMTM7_uc003cez.1_Missense_Mutation_p.V142I NM_138410 NP_612419 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 175 chemotaxis extracellular space|integral to membrane cytokine activity 0 AGATGCAGCCGTCTGATGAGG 0.587000 TRANK1 9881 broad.mit.edu 37 3 36898206 36898206 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:36898206C>T uc003cgj.2 - 3 1527 c.1225G>A c.(1225-1227)GAG>AAG p.E409K NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 959 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CTGCCCTTCTCGGCCTCTGTG 0.483000 SCN10A 6336 broad.mit.edu 37 3 38768331 38768331 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:38768331G>T uc003ciq.2 - 16 2853 c.2853C>A c.(2851-2853)CTC>CTA p.L951L NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 951 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGGAGAGTGGGAGTTTCACCA 0.602000 LIMD1 8994 broad.mit.edu 37 3 45637565 45637565 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:45637565G>A uc003coq.2 + 1 1243 c.1194G>A c.(1192-1194)GAG>GAA p.E398E NM_014240 NP_055055 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 398 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) CCCTGCCTGAGTTATCTTGTA 0.622000 CCR3 1232 broad.mit.edu 37 3 46307111 46307111 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:46307111C>A uc003cpg.1 + 4 1005 c.462C>A c.(460-462)AGC>AGA p.S154R CCR3_uc003cpi.1_Missense_Mutation_p.S154R|CCR3_uc003cpj.1_Missense_Mutation_p.S154R|CCR3_uc003cpk.1_Missense_Mutation_p.S175R|CCR3_uc010hjb.1_Missense_Mutation_p.S172R|CCR3_uc003cpl.1_Missense_Mutation_p.S187R NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 154 Helical; Name=4; (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) TCATCACCAGCATCGTCACCT 0.488000 KLHL18 23276 broad.mit.edu 37 3 47378106 47378106 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:47378106G>T uc003crd.2 + 7 1106 c.980G>T c.(979-981)AGC>ATC p.S327I KLHL18_uc003crc.2_Missense_Mutation_p.S327I|KLHL18_uc011bav.1_Missense_Mutation_p.S215I|KLHL18_uc010hjq.1_Missense_Mutation_p.S183I NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 327 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) ACAGCCCGCAGCCGCGTTGGC 0.567000 KLHL18 23276 broad.mit.edu 37 3 47378108 47378108 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:47378108C>T uc003crd.2 + 7 1108 c.982C>T c.(982-984)CGC>TGC p.R328C KLHL18_uc003crc.2_Missense_Mutation_p.R328C|KLHL18_uc011bav.1_Missense_Mutation_p.R216C|KLHL18_uc010hjq.1_Missense_Mutation_p.R184C NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 328 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) AGCCCGCAGCCGCGTTGGCGT 0.567000 CELSR3 1951 broad.mit.edu 37 3 48698167 48698167 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:48698167G>A uc003cul.2 - 1 2182 c.1901C>T c.(1900-1902)ACG>ATG p.T634M CELSR3_uc003cuf.1_Missense_Mutation_p.T704M NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 634 Extracellular (Potential).|Cadherin 3. 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) GGCCAGGCCCGTGTTGTTGGA 0.572000 LAMB2 3913 broad.mit.edu 37 3 49166186 49166186 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:49166186C>T uc003cwe.2 - 14 2097 c.1798G>A c.(1798-1800)GTG>ATG p.V600M LAMB2_uc003cwf.1_Missense_Mutation_p.V600M NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 600 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGTAGCCGCACGAAGCCTGAG 0.617000 RNF123 63891 broad.mit.edu 37 3 49743092 49743092 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:49743092G>A uc003cxh.2 + 24 2370 c.2284G>A c.(2284-2286)GTA>ATA p.V762I RNF123_uc010hky.1_Missense_Mutation_p.V424I|RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 762 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CAACCTCAGCGTACACCAGCA 0.622000 GMPPB 29925 broad.mit.edu 37 3 49760467 49760467 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:49760467C>T uc003cxk.1 - 4 565 c.340G>A c.(340-342)GAT>AAT p.D114N GMPPB_uc003cxl.1_Missense_Mutation_p.D114N NM_021971 NP_068806 Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B isoform 2 114 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGGGGAAATCGCAGATCACG 0.607000 MON1A 84315 broad.mit.edu 37 3 49949043 49949043 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:49949043C>A uc003cxz.2 - 3 946 c.820G>T c.(820-822)GCA>TCA p.A274S MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 177 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CTGGAAAGTGCCTCCTCAGAC 0.592000 MON1A 84315 broad.mit.edu 37 3 49949063 49949063 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:49949063G>A uc003cxz.2 - 3 926 c.800C>T c.(799-801)TCC>TTC p.S267F MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron NM_032355 NP_115731 Q86VX9 MON1A_HUMAN MON1 homolog A isoform a 170 protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CCCATAGCGGGAGTACACAGG 0.597000 ITIH3 3699 broad.mit.edu 37 3 52838744 52838744 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:52838744G>A uc003dfv.2 + 15 1903 c.1867G>A c.(1867-1869)GCA>ACA p.A623T ITIH3_uc011bek.1_Intron NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 623 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ACCTGCAGATGCAGAAGGTAA 0.557000 WNT5A 7474 broad.mit.edu 37 3 55513591 55513591 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:55513591A>G uc003dhn.2 - 3 460 c.142T>C c.(142-144)TCG>CCG p.S48P WNT5A_uc003dhm.2_Missense_Mutation_p.S33P|WNT5A_uc010hmw.2_Missense_Mutation_p.S33P|WNT5A_uc010hmx.2_Intron NM_003392 NP_003383 P41221 WNT5A_HUMAN wingless-type MMTV integration site family, 48 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) ATACCTAGCGACCTGCAAGGG 0.468000 PTPRG 5793 broad.mit.edu 37 3 62189448 62189448 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:62189448G>T uc003dlb.2 + 12 2698 c.1979G>T c.(1978-1980)AGG>ATG p.R660M PTPRG_uc003dlc.2_Missense_Mutation_p.R660M NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 660 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GGCGGAAGGAGGGATGCCGGC 0.652000 THOC7 80145 broad.mit.edu 37 3 63825431 63825431 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:63825431C>T uc003dlt.3 - 2 169 c.38G>A c.(37-39)CGT>CAT p.R13H C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Intron NM_025075 NP_079351 Q6I9Y2 THOC7_HUMAN Ngg1 interacting factor 3 like 1 binding protein 13 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing cytoplasm|THO complex part of transcription export complex protein binding|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218) AATGAGGAGACGCTTCCGTAT 0.438000 PDZRN3 23024 broad.mit.edu 37 3 73450150 73450150 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:73450150C>T uc003dpl.1 - 5 1273 c.1177G>A c.(1177-1179)GCC>ACC p.A393T PDZRN3_uc011bgh.1_Missense_Mutation_p.A50T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A91T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A110T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A113T NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 393 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TATTCATGGGCTGAGGGATGC 0.478000 ROBO1 6091 broad.mit.edu 37 3 78796020 78796020 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:78796020G>A uc003dqe.2 - 5 738 c.530C>T c.(529-531)TCG>TTG p.S177L ROBO1_uc003dqb.2_Missense_Mutation_p.S138L|ROBO1_uc003dqc.2_Missense_Mutation_p.S138L|ROBO1_uc003dqd.2_Missense_Mutation_p.S138L NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 177 Extracellular (Potential).|Ig-like C2-type 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CATGACATCCGAAGGGTTTTG 0.458000 FILIP1L 11259 broad.mit.edu 37 3 99569681 99569681 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:99569681C>A uc003dtm.2 - 5 1302 c.839G>T c.(838-840)AGA>ATA p.R280I C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.R280I|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Missense_Mutation_p.R40I|FILIP1L_uc003dtn.2_Missense_Mutation_p.R40I|FILIP1L_uc003dtp.1_Missense_Mutation_p.R40I NM_182909 NP_878913 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like isoform 1 280 Potential. cytoplasm|membrane|myosin complex|nucleus ovary(1) 1 CTCCTGAACTCTGGCTTCAGC 0.483000 CEP97 79598 broad.mit.edu 37 3 101445494 101445494 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:101445494T>C uc003dvk.1 + 2 127 c.100T>C c.(100-102)TGT>CGT p.C34R CEP97_uc010hpm.1_Missense_Mutation_p.C34R|CEP97_uc011bhf.1_Missense_Mutation_p.C34R|CEP97_uc003dvl.1_5'Flank NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 34 centrosome|nucleus protein binding ovary(2) 2 AAATTTACCCTGTGAAGCTGA 0.328000 SEMA5B 54437 broad.mit.edu 37 3 122646705 122646705 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:122646705G>T uc003efz.1 - 8 1086 c.782C>A c.(781-783)GCC>GAC p.A261D SEMA5B_uc011bju.1_Missense_Mutation_p.A203D|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A261D|SEMA5B_uc010hro.1_Missense_Mutation_p.A203D|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 261 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GCGGTAGATGGCAGGGTCCCG 0.622000 CCDC14 64770 broad.mit.edu 37 3 123667978 123667978 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:123667978T>C uc011bjx.1 - 6 589 c.498A>G c.(496-498)TCA>TCG p.S166S CCDC14_uc003egv.3_5'UTR|CCDC14_uc003egx.3_5'UTR|CCDC14_uc010hrt.2_Silent_p.A125A|CCDC14_uc003egy.3_5'UTR|CCDC14_uc003egz.2_5'UTR NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 166 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) TATCTGAAGATGCTAATGTGG 0.343000 KALRN 8997 broad.mit.edu 37 3 124281775 124281775 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:124281775C>T uc003ehg.2 + 34 5142 c.5015C>T c.(5014-5016)ACG>ATG p.T1672M KALRN_uc003ehi.2_Missense_Mutation_p.T45M NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1672 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GTGGGGCAGACGGTAGAGCTG 0.662000 ROPN1B 152015 broad.mit.edu 37 3 125701213 125701213 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:125701213C>T uc003eih.2 + 5 725 c.497C>T c.(496-498)ACG>ATG p.T166M ROPN1B_uc010hsb.2_Missense_Mutation_p.T166M|ROPN1B_uc010hsc.2_Missense_Mutation_p.T74M NM_001012337 NP_001012337 Q9BZX4 ROP1B_HUMAN ropporin, rhophilin associated protein 1B 166 acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity 0 GBM - Glioblastoma multiforme(114;0.151) TTTCTCTACACGTATATTGCC 0.438000 ALDH1L1 10840 broad.mit.edu 37 3 125844513 125844513 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:125844513C>T uc003eim.1 - 15 1936 c.1746G>A c.(1744-1746)TGG>TGA p.W582* ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Nonsense_Mutation_p.W481* NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 582 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CAGCTGTCTTCCAGGACAGCA 0.587000 CHST13 166012 broad.mit.edu 37 3 126260961 126260961 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:126260961C>T uc003eja.2 + 3 566 c.566C>T c.(565-567)GCG>GTG p.A189V NM_152889 NP_690849 Q8NET6 CHSTD_HUMAN carbohydrate sulfotransferase 13 189 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.151) AACAAGCTCGCGCGCCCCTAC 0.557000 PLXNA1 5361 broad.mit.edu 37 3 126707619 126707619 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:126707619C>T uc003ejg.2 + 1 118 c.114C>T c.(112-114)GGC>GGT p.G38G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 61 Sema.|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) AGCAGACAGGCGAGGTGTATG 0.652000 IFT122 55764 broad.mit.edu 37 3 129198657 129198657 + Silent SNP C C T rs142641511 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:129198657C>T uc003emm.2 + 13 1586 c.1380C>T c.(1378-1380)AGC>AGT p.S460S IFT122_uc003eml.2_Silent_p.S511S|IFT122_uc003emn.2_Silent_p.S401S|IFT122_uc003emo.2_Silent_p.S349S|IFT122_uc003emp.2_Silent_p.S310S|IFT122_uc010htc.2_Silent_p.S452S|IFT122_uc011bky.1_Silent_p.S251S|IFT122_uc003emq.2_Silent_p.S300S|IFT122_uc003emr.2_Silent_p.S251S|IFT122_uc011bla.1_Silent_p.S251S|IFT122_uc011bkx.1_Silent_p.S300S|IFT122_uc011bkz.1_RNA|IFT122_uc010htd.1_5'Flank NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 460 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 TGTCCTTCAGCGGAGTGAAGG 0.547000 ASTE1 28990 broad.mit.edu 37 3 130732962 130732962 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:130732962C>T uc003env.1 - 6 2421 c.1979G>A c.(1978-1980)CGG>CAG p.R660Q ATP2C1_uc011blh.1_Intron|ATP2C1_uc011bli.1_Intron|ATP2C1_uc003enm.2_Intron|ATP2C1_uc003enn.2_Intron|ATP2C1_uc003enp.2_Intron|ATP2C1_uc003enr.2_Intron|ATP2C1_uc003ens.2_Intron|ATP2C1_uc003ent.2_Intron|ASTE1_uc010htm.1_Missense_Mutation_p.R685Q|ASTE1_uc011blj.1_RNA NM_014065 NP_054784 Q2TB18 ASTE1_HUMAN asteroid homolog 1 660 DNA repair nuclease activity 0 CAACCCAAACCGGTTGTTTCC 0.373000 ZBTB38 253461 broad.mit.edu 37 3 141164326 141164326 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:141164326C>T uc003etw.2 + 8 4078 c.3096C>T c.(3094-3096)CAC>CAT p.H1032H ZBTB38_uc010hun.2_Silent_p.H1029H|ZBTB38_uc010huo.2_Silent_p.H1032H|ZBTB38_uc003ety.2_Silent_p.H1032H|ZBTB38_uc010hup.2_Silent_p.H1033H NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 1032 C2H2-type 6. positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TGAGATGTCACACCGGGGAGA 0.547000 FAM194A 131831 broad.mit.edu 37 3 150421519 150421519 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:150421519A>T uc003eyg.2 - 1 224 c.167T>A c.(166-168)GTG>GAG p.V56E FAM194A_uc003eyh.2_Intron NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 56 Glu-rich. skin(2)|ovary(1) 3 ctcctcctccaccacctcctc 0.199000 SERPINI1 5274 broad.mit.edu 37 3 167507093 167507093 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:167507093G>C uc003ffa.3 + 2 375 c.177G>C c.(175-177)ATG>ATC p.M59I SERPINI1_uc003ffb.3_Missense_Mutation_p.M59I NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 59 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 CAATGGGAATGATGGAACTTG 0.413000 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) KLHL24 54800 broad.mit.edu 37 3 183368863 183368863 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:183368863C>T uc003flv.2 + 3 1014 c.719C>T c.(718-720)GCC>GTC p.A240V KLHL24_uc003flw.2_Missense_Mutation_p.A240V|KLHL24_uc003flx.2_Missense_Mutation_p.A240V NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 240 BACK. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GTCTATCGTGCCGTTGATCTG 0.423000 PSMD2 5708 broad.mit.edu 37 3 184025728 184025728 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:184025728C>T uc003fnn.1 + 19 2382 c.2349C>T c.(2347-2349)AGC>AGT p.S783S PSMD2_uc011brj.1_Silent_p.S624S|PSMD2_uc011brk.1_Silent_p.S653S NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 783 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) CCTACCACAGCGACCGGCAGC 0.522000 CHRD 8646 broad.mit.edu 37 3 184101309 184101309 + Splice_Site SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:184101309A>G uc003fov.2 + 12 1567 c.1321_splice c.e12-2 p.V441_splice CHRD_uc003fow.2_Splice_Site_p.V71_splice|CHRD_uc003fox.2_Splice_Site_p.V441_splice|CHRD_uc003foy.2_Splice_Site_p.V71_splice|CHRD_uc010hyc.2_Intron|CHRD_uc011brr.1_Splice_Site_p.V71_splice NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTGCCCATCAGGTGCAAGTG 0.637000 PDE6B 5158 broad.mit.edu 37 4 656381 656381 + Silent SNP C C T rs140849790 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:656381C>T uc003gap.2 + 14 1859 c.1806C>T c.(1804-1806)CGC>CGT p.R602R PDE6B_uc003gao.3_Silent_p.R602R|PDE6B_uc011buy.1_Silent_p.R323R|PDE6B_uc011buz.1_Silent_p.R34R NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 602 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 TCGACCACCGCGGCACCAACA 0.577000 GAK 2580 broad.mit.edu 37 4 860221 860221 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:860221C>T uc003gbm.3 - 22 3173 c.2974G>A c.(2974-2976)GTC>ATC p.V992I GAK_uc003gbn.3_Missense_Mutation_p.V913I|GAK_uc010ibi.2_Missense_Mutation_p.V173I|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.V845I NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 992 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) GATGGTGGGACGGTCACAGAG 0.617000 SPON2 10417 broad.mit.edu 37 4 1165659 1165659 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:1165659C>T uc003gcn.3 - 1 228 c.201G>A c.(199-201)GCG>GCA p.A67A SPON2_uc003gco.3_Silent_p.A67A|SPON2_uc010ibr.2_Silent_p.A67A|SPON2_uc003gcm.1_5'Flank NM_012445 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 67 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) AAGACCACTGCGCAGGGGGGC 0.687000 FGFR3 2261 broad.mit.edu 37 4 1803616 1803616 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:1803616C>T uc003gdr.3 + 7 1050 c.794C>T c.(793-795)GCG>GTG p.A265V FGFR3_uc003gdu.2_Missense_Mutation_p.A265V|FGFR3_uc003gds.3_Missense_Mutation_p.A265V|FGFR3_uc003gdq.3_Missense_Mutation_p.A265V|FGFR3_uc010icb.1_Missense_Mutation_p.A107V|FGFR3_uc003gdt.1_Missense_Mutation_p.A107V NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 265 Ig-like C2-type 3.|Extracellular (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.A265T(2) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) AACCAGACGGCGGTGCTGGGC 0.607000 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome WHSC1 7468 broad.mit.edu 37 4 1961359 1961359 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:1961359C>T uc003gdz.3 + 17 3323 c.3147C>T c.(3145-3147)GGC>GGT p.G1049G WHSC1_uc003geb.3_Silent_p.G1049G|WHSC1_uc003gec.3_Silent_p.G1049G|WHSC1_uc003ged.3_Silent_p.G1049G|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.G268G|WHSC1_uc011bvh.1_Silent_p.G110G|WHSC1_uc010icf.2_Silent_p.G397G NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1049 AWS. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GTCCCGCGGGCGAGTTCTGCC 0.567000 T IGH@ MM C4orf50 389197 broad.mit.edu 37 4 5981913 5981913 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:5981913C>T uc003git.1 - 2 246 c.156G>A c.(154-156)GAG>GAA p.E52E NM_207405 NP_997288 Q6ZRC1 CD050_HUMAN hypothetical protein LOC389197 52 Potential. pancreas(2)|breast(1) 3 TGGCCTGGAGCTCCTCCTGGA 0.642000 JAKMIP1 152789 broad.mit.edu 37 4 6107634 6107634 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:6107634G>A uc003giu.3 - 3 466 c.190C>T c.(190-192)CGG>TGG p.R64W JAKMIP1_uc010idb.1_Missense_Mutation_p.R64W|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R64W|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R64W|JAKMIP1_uc010ide.2_Missense_Mutation_p.R64W NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 64 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GCCGTGTGCCGTCGCTGCTCC 0.622000 WFS1 7466 broad.mit.edu 37 4 6296826 6296826 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:6296826C>T uc003giy.2 + 7 937 c.771C>T c.(769-771)GGC>GGT p.G257G WFS1_uc003gix.2_Silent_p.G257G|WFS1_uc003giz.2_Silent_p.G75G NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 257 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) ACGCCAAGGGCGTCATCCCCA 0.577000 WFS1 7466 broad.mit.edu 37 4 6302499 6302499 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:6302499C>T uc003giy.2 + 8 1143 c.977C>T c.(976-978)GCG>GTG p.A326V WFS1_uc003gix.2_Missense_Mutation_p.A326V|WFS1_uc003giz.2_Missense_Mutation_p.A144V NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 326 Helical; (Potential). A -> V. endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) CACATCAACGCGCTCATCTTC 0.542000 CCKAR 886 broad.mit.edu 37 4 26483548 26483548 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:26483548G>A uc003gse.1 - 5 1152 c.999C>T c.(997-999)AAC>AAT p.N333N NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 333 Helical; Name=6; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) CCCGCCAGGCGTTGGCGCTGA 0.617000 PCDH7 5099 broad.mit.edu 37 4 30724440 30724440 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:30724440G>A uc003gsk.1 + 1 2404 c.1396G>A c.(1396-1398)GTG>ATG p.V466M PCDH7_uc011bxw.1_Missense_Mutation_p.V419M|PCDH7_uc011bxx.1_Missense_Mutation_p.V466M NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 466 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GGTGGGCGACGTGCCCTTCCA 0.637000 TLR10 81793 broad.mit.edu 37 4 38776168 38776168 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:38776168C>T uc003gti.2 - 2 1423 c.1044G>A c.(1042-1044)ACG>ACA p.T348T TLR10_uc003gtj.2_Silent_p.T348T|TLR10_uc003gtk.2_Silent_p.T348T NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 348 LRR 8.|Extracellular (Potential). inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 ATTGGAATTTCGTAGGATAAT 0.328000 SHISA3 152573 broad.mit.edu 37 4 42400102 42400102 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:42400102T>C uc003gwp.2 + 1 247 c.29T>C c.(28-30)CTC>CCC p.L10P NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 10 multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 CTTTGCCTTCTCCTTGGCTGG 0.711000 ATP8A1 10396 broad.mit.edu 37 4 42581864 42581864 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:42581864C>T uc003gwr.2 - 11 1198 c.966G>A c.(964-966)AGG>AGA p.R322R ATP8A1_uc003gws.2_Silent_p.R322R|ATP8A1_uc011byz.1_Silent_p.R322R NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 322 Extracellular (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TTCCAGAATGCCTTCGATTCC 0.338000 KDR 3791 broad.mit.edu 37 4 55968171 55968171 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:55968171C>T uc003has.2 - 15 2461 c.2159G>A c.(2158-2160)CGG>CAG p.R720Q KDR_uc003hat.1_Missense_Mutation_p.R720Q NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 720 Ig-like C2-type 7.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGTGAGGTTCCGGTTCCCATC 0.438000 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) UGT2B28 54490 broad.mit.edu 37 4 70148363 70148363 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:70148363G>A uc003hej.2 + 2 855 c.853G>A c.(853-855)GCC>ACC p.A285T UGT2B28_uc010ihr.2_Missense_Mutation_p.A285T NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 285 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) CTGCAAACCTGCCAAACCCCT 0.388000 RASSF6 166824 broad.mit.edu 37 4 74442417 74442417 + Silent SNP C C T rs147932445 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:74442417C>T uc003hhd.1 - 9 972 c.849G>A c.(847-849)CCG>CCA p.P283P RASSF6_uc003hhc.1_Silent_p.P251P|RASSF6_uc010iik.1_Silent_p.P217P|RASSF6_uc010iil.1_Silent_p.P239P NM_201431 NP_958834 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family 6 283 Ras-associating. apoptosis|signal transduction protein binding pancreas(2) 2 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TCTGCAGTAGCGGAATGTCTG 0.403000 PDLIM5 10611 broad.mit.edu 37 4 95496845 95496845 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:95496845G>A uc003hti.2 + 5 521 c.370G>A c.(370-372)GCC>ACC p.A124T PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Intron|PDLIM5_uc011cdx.1_Intron|PDLIM5_uc003hth.2_Intron|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Intron|PDLIM5_uc011cdy.1_Missense_Mutation_p.A2T NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 124 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) AAACAACATGGCCTACAATAA 0.463000 MANBA 4126 broad.mit.edu 37 4 103553381 103553381 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:103553381C>T uc003hwg.2 - 17 2573 c.2473G>A c.(2473-2475)GCT>ACT p.A825T MANBA_uc011ces.1_Missense_Mutation_p.A768T NM_005908 NP_005899 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal precursor 825 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) ACAAAGGGAGCGACAGCTGAG 0.413000 TET2 54790 broad.mit.edu 37 4 106157193 106157193 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:106157193G>T uc003hxk.2 + 3 2480 c.2094G>T c.(2092-2094)GTG>GTT p.V698V TET2_uc011cez.1_Silent_p.V719V|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.V698V|TET2_uc003hxi.1_Silent_p.V698V NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 698 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TGTCCCCAGTGTTGAAACAGC 0.418000 Mis N|F MDS TRAM1L1 133022 broad.mit.edu 37 4 118005713 118005713 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:118005713C>T uc003ibv.3 - 1 1024 c.837G>A c.(835-837)TCG>TCA p.S279S NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 279 Lumenal (Potential).|TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane p.S279S(1) central_nervous_system(1) 1 TCCGATTCTGCGATCCAGCCA 0.453000 FAT4 79633 broad.mit.edu 37 4 126336826 126336826 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:126336826C>T uc003ifj.3 + 5 6708 c.6708C>T c.(6706-6708)AGC>AGT p.S2236S FAT4_uc011cgp.1_Silent_p.S534S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2236 Cadherin 21.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATCGAGGCAGCACACCCAGAA 0.448000 INTU 27152 broad.mit.edu 37 4 128632225 128632225 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:128632225C>T uc003ifk.1 + 14 2597 c.2527C>T c.(2527-2529)CGT>TGT p.R843C INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 843 ovary(1) 1 TCTTTCCATTCGTGCAGTTTT 0.413000 SMARCA5 8467 broad.mit.edu 37 4 144471250 144471250 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:144471250A>T uc003ijg.2 + 23 3548 c.3086A>T c.(3085-3087)AAG>ATG p.K1029M NM_003601 NP_003592 O60264 SMCA5_HUMAN SWI/SNF-related matrix-associated 1029 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding skin(1) 1 all_hematologic(180;0.158) CGAGGACCAAAGCCTTCAGTA 0.358000 ZNF827 152485 broad.mit.edu 37 4 146824292 146824292 + Missense_Mutation SNP G G A rs149206051 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:146824292G>A uc003ikn.2 - 2 167 c.119C>T c.(118-120)CCG>CTG p.P40L ZNF827_uc003ikm.2_Missense_Mutation_p.P40L|ZNF827_uc010iox.2_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 40 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) TGCTTCTGACGGAGTCTCTGA 0.532000 ARHGAP10 79658 broad.mit.edu 37 4 148744110 148744110 + Splice_Site SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:148744110T>C uc003ilf.2 + 3 312 c.312_splice c.e3+2 p.M104_splice ARHGAP10_uc003ile.1_Splice_Site_p.M104_splice NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) GAAATTATGGTGAGTTGAGAG 0.383000 FBXW7 55294 broad.mit.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:153249385G>A uc003ims.2 - 9 1542 c.1393C>T c.(1393-1395)CGT>TGT p.R465C FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 465 WD 3. R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R465C(52)|p.R465H(36)|p.R465L(2) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGCATACAACGCACAGTGGAA 0.413000 Mis|N|D|F colorectal|endometrial|T-ALL FHDC1 85462 broad.mit.edu 37 4 153881743 153881743 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:153881743C>T uc003inf.2 + 4 765 c.690C>T c.(688-690)GGC>GGT p.G230G NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 230 FH2. actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) CGTTTAGTGGCGACGTGTCGA 0.373000 DCHS2 54798 broad.mit.edu 37 4 155312366 155312366 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:155312366G>T uc003inw.2 - 1 84 c.84C>A c.(82-84)GCC>GCA p.A28A DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 28 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) CATATACACAGGCATCAGTAC 0.199000 HAND2 9464 broad.mit.edu 37 4 174450000 174450000 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:174450000G>A uc003ith.1 - 1 1379 c.441C>T c.(439-441)TAC>TAT p.Y147Y NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.H113Y|HAND2_uc010ire.1_Silent_p.Y147Y NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 147 Helix-loop-helix motif. adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 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;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GGTAGGCGATGTAGCTGGTGG 0.592000 C4orf41 60684 broad.mit.edu 37 4 184589196 184589196 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:184589196C>T uc003ivx.2 + 5 662 c.486C>T c.(484-486)TGC>TGT p.C162C C4orf41_uc003ivw.2_Silent_p.C162C|C4orf41_uc010isc.2_Intron NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 162 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) CAGCTTTATGCAATGCATGTG 0.383000 SLC12A7 10723 broad.mit.edu 37 5 1075484 1075484 + Splice_Site SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:1075484A>G uc003jbu.2 - 15 2033 c.1967_splice c.e15+1 p.G656_splice NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GACAGCGCTTACCCGCGGTAC 0.657000 IRX2 153572 broad.mit.edu 37 5 2749021 2749021 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:2749021C>T uc003jda.2 - 3 1043 c.801G>A c.(799-801)GAG>GAA p.E267E IRX2_uc003jdb.2_Silent_p.E267E NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 267 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) CGTCGTCGTCCTCGTCGTCCT 0.667000 ADAMTS16 170690 broad.mit.edu 37 5 5232558 5232558 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:5232558T>G uc003jdl.2 + 12 1917 c.1779T>G c.(1777-1779)TCT>TCG p.S593S ADAMTS16_uc003jdk.1_Silent_p.S593S|ADAMTS16_uc010itk.1_5'Flank NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 593 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CGGACTGGTCTTCTTGGTCCC 0.537000 ADCY2 108 broad.mit.edu 37 5 7520977 7520977 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:7520977G>A uc003jdz.1 + 3 602 c.535G>A c.(535-537)GCA>ACA p.A179T NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 179 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CTGCCTGTCTGCAACACCGGG 0.607000 MTRR 4552 broad.mit.edu 37 5 7873500 7873500 + Silent SNP C C T rs138612190 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:7873500C>T uc003jed.2 + 3 255 c.225C>T c.(223-225)ACC>ACT p.T75T MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Silent_p.T48T|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 75 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) ACCTAAAAACCGAAACAGCTC 0.448000 DNAH5 1767 broad.mit.edu 37 5 13781052 13781052 + Missense_Mutation SNP C C T rs140975593 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:13781052C>T uc003jfd.2 - 53 8879 c.8837G>A c.(8836-8838)CGT>CAT p.R2946H NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2946 AAA 4 (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) CTGAGGAGTACGAATGACACG 0.433000 Kartagener_syndrome TRIO 7204 broad.mit.edu 37 5 14297342 14297342 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:14297342G>A uc003jff.2 + 7 1344 c.1338G>A c.(1336-1338)ATG>ATA p.M446I TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.M397I|TRIO_uc003jfh.1_Missense_Mutation_p.M95I NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 446 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) TGCTGGACATGTCCTCCATTT 0.562000 FBXL7 23194 broad.mit.edu 37 5 15936821 15936821 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:15936821C>T uc003jfn.1 + 4 1483 c.1002C>T c.(1000-1002)TGC>TGT p.C334C NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 334 LRR 7. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TCAGCGACTGCCGCTTCGTCA 0.682000 MARCH11 441061 broad.mit.edu 37 5 16067654 16067654 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:16067654G>A uc003jfo.2 - 4 1348 c.1135C>T c.(1135-1137)CGG>TGG p.R379W MARCH11_uc010itw.1_Missense_Mutation_p.R135W NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 379 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 GGCCTCATCCGATTGAACAGG 0.478000 CDH10 1008 broad.mit.edu 37 5 24491847 24491847 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:24491847C>A uc003jgr.1 - 11 2046 c.1714G>T c.(1714-1716)GAT>TAT p.D572Y CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 572 Cadherin 5.|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) ATTGGGTAATCATTGTCTGAT 0.433000 HNSCC(23;0.051) PDZD2 23037 broad.mit.edu 37 5 32089364 32089364 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:32089364T>C uc003jhl.2 + 20 6198 c.5810T>C c.(5809-5811)GTA>GCA p.V1937A PDZD2_uc003jhm.2_Missense_Mutation_p.V1937A NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1937 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CGGCTCCATGTAGCCGACCAC 0.597000 RICTOR 253260 broad.mit.edu 37 5 38958851 38958851 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:38958851A>G uc003jlp.2 - 23 2285 c.2261T>C c.(2260-2262)TTG>TCG p.L754S RICTOR_uc003jlo.2_Missense_Mutation_p.L754S|RICTOR_uc010ivf.2_Missense_Mutation_p.L469S NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 754 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) GGTCACTAACAACTCAATTCC 0.343000 HSPB3 8988 broad.mit.edu 37 5 53751772 53751772 + Silent SNP G G A rs139714539 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:53751772G>A uc003jph.1 + 1 328 c.153G>A c.(151-153)GCG>GCA p.A51A NM_006308 NP_006299 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 51 cell death|response to heat|response to unfolded protein cytoplasm|nucleus 0 Lung NSC(810;0.00104) CCAGGGCAGCGCAGTCTCCTC 0.562000 MAP3K1 4214 broad.mit.edu 37 5 56177584 56177584 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:56177584C>T uc003jqw.3 + 14 3058 c.2557C>T c.(2557-2559)CGT>TGT p.R853C NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 853 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) CACCAGGATGCGTCGCCGTTT 0.468000 MAP1B 4131 broad.mit.edu 37 5 71495988 71495988 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:71495988C>A uc003kbw.3 + 5 7047 c.6806C>A c.(6805-6807)GCA>GAA p.A2269E MAP1B_uc010iyw.1_Missense_Mutation_p.A2286E|MAP1B_uc010iyx.1_Missense_Mutation_p.A2143E|MAP1B_uc010iyy.1_Missense_Mutation_p.A2143E NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2269 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) AAGCCCTTGGCAGCTTCACCA 0.453000 F2RL2 2151 broad.mit.edu 37 5 75913544 75913544 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:75913544A>T uc003kem.2 - 2 1173 c.988T>A c.(988-990)TAC>AAC p.Y330N IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.Y308N NM_004101 NP_004092 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 330 Extracellular (Potential). platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity skin(2)|ovary(1) 3 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) GTGTTGTTGTAGTAGTAGTTA 0.348000 CMYA5 202333 broad.mit.edu 37 5 79027051 79027051 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:79027051A>G uc003kgc.2 + 2 2535 c.2463A>G c.(2461-2463)CAA>CAG p.Q821Q NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 821 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) AGGCATCCCAATTCAAACCAA 0.433000 THBS4 7060 broad.mit.edu 37 5 79355673 79355673 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:79355673G>T uc003kgh.2 + 8 1255 c.932G>T c.(931-933)GGG>GTG p.G311V NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 311 EGF-like 1. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TTCCAGTGTGGGCCCTGCCCC 0.562000 RASGRF2 5924 broad.mit.edu 37 5 80363869 80363869 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:80363869T>C uc003kha.1 + 3 414 c.414T>C c.(412-414)ATT>ATC p.I138I RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_5'Flank NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 138 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) ACATTTTGATTGAGAGGGAAG 0.328000 RASGRF2 5924 broad.mit.edu 37 5 80382675 80382675 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:80382675C>T uc003kha.1 + 9 1293 c.1293C>T c.(1291-1293)AGC>AGT p.S431S RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Silent_p.S259S NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 431 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) ATGAAGTCAGCGACACTGAAA 0.468000 GPR98 84059 broad.mit.edu 37 5 90004680 90004680 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:90004680C>T uc003kju.2 + 39 8874 c.8778C>T c.(8776-8778)TAC>TAT p.Y2926Y GPR98_uc003kjt.2_Silent_p.Y632Y|GPR98_uc003kjv.2_Silent_p.Y526Y NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2926 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTTAACTTACGTTGGACTTA 0.343000 KCNN2 3781 broad.mit.edu 37 5 113798824 113798824 + Silent SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:113798824T>G uc003kqo.2 + 4 1537 c.1080T>G c.(1078-1080)GGT>GGG p.G360G KCNN2_uc003kqp.2_Silent_p.G12G|KCNN2_uc010jcg.2_RNA|uc003kqq.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 360 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TCTCCATTGGTTATGGTGACA 0.378000 MEGF10 84466 broad.mit.edu 37 5 126746114 126746114 + Silent SNP C C T rs145870973 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:126746114C>T uc003kuh.3 + 10 1313 c.951C>T c.(949-951)GGC>GGT p.G317G MEGF10_uc010jdc.1_Silent_p.G317G|MEGF10_uc010jdd.1_Silent_p.G317G|MEGF10_uc003kui.3_Silent_p.G317G NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor 317 Extracellular (Potential).|EGF-like 6.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) GGACCTATGGCGTTCTCTGTG 0.527000 CHSY3 337876 broad.mit.edu 37 5 129244011 129244011 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:129244011C>T uc003kvd.2 + 2 1044 c.1044C>T c.(1042-1044)TGC>TGT p.C348C NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 348 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TAGGAAGATGCGTTCGCCGTT 0.438000 CTNNA1 1495 broad.mit.edu 37 5 138160446 138160446 + Silent SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:138160446T>A uc003ldh.2 + 6 911 c.816T>A c.(814-816)GGT>GGA p.G272G CTNNA1_uc011cyx.1_Silent_p.G169G|CTNNA1_uc011cyy.1_Silent_p.G149G|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Silent_p.G272G NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 272 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGCACCAGGGTGGAGGAGGAG 0.522000 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139876355 139876355 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:139876355G>A uc003lfs.1 + 15 2620 c.2496G>A c.(2494-2496)AAG>AAA p.K832K ANKHD1_uc003lfq.1_Silent_p.K851K|ANKHD1_uc003lfr.2_Silent_p.K832K|ANKHD1_uc003lft.1_Intron|ANKHD1_uc003lfu.1_Silent_p.K312K|ANKHD1_uc003lfv.1_Intron NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 832 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAGAAGAAGAAAATATTGA 0.373000 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139918632 139918632 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:139918632T>C uc003lfs.1 + 33 7657 c.7533T>C c.(7531-7533)GTT>GTC p.V2511V ANKHD1_uc003lfr.2_Silent_p.V2511V|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.V1267V|ANKHD1_uc003lfw.2_Silent_p.V1166V|ANKHD1_uc010jfl.2_Silent_p.V887V|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.V656V NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2511 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATAAAAGTTATCCAAAATT 0.403000 SLC35A4 113829 broad.mit.edu 37 5 139947624 139947624 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:139947624C>T uc003lgg.1 + 3 1598 c.870C>T c.(868-870)AAC>AAT p.N290N SLC35A4_uc003lgh.1_Silent_p.N290N NM_080670 NP_542401 Q96G79 S35A4_HUMAN solute carrier family 35, member A4 290 Leu-rich.|Helical; (Potential). Golgi membrane|integral to membrane sugar:hydrogen symporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGGTCAACGCCGTGCTCT 0.592000 PCDHA4 56144 broad.mit.edu 37 5 140188676 140188676 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:140188676G>A uc003lhi.2 + 1 2005 c.1904G>A c.(1903-1905)CGT>CAT p.R635H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R635H|PCDHA4_uc011daa.1_Missense_Mutation_p.R635H NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACAACGCGTGCCCTGGAC 0.682000 PCDHA5 56143 broad.mit.edu 37 5 140202836 140202836 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:140202836G>A uc003lhl.2 + 1 1476 c.1476G>A c.(1474-1476)TCG>TCA p.S492S 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_Silent_p.S492S|PCDHA5_uc003lhj.1_Silent_p.S492S NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 492 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCTACTCGCTGGTGGAGC 0.667000 PCDHA9 9752 broad.mit.edu 37 5 140229691 140229691 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:140229691G>A uc003lhu.2 + 1 2335 c.1611G>A c.(1609-1611)GCG>GCA p.A537A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A537A NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 537 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGCGCGCGCGACGCGG 0.662000 PCDHB6 56130 broad.mit.edu 37 5 140530024 140530024 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:140530024C>T uc003lir.2 + 1 186 c.186C>T c.(184-186)GGC>GGT p.G62G PCDHB6_uc011dah.1_Intron NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 62 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTCGCGGGGCGCTCGGGTTG 0.517000 PCDHGA4 56111 broad.mit.edu 37 5 140734826 140734826 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:140734826T>G uc003ljq.1 + 1 59 c.59T>G c.(58-60)CTG>CGG p.L20R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.L20R NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 20 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) TGCCTTCTCCTGGGGGTTCTG 0.622000 PCDHGB6 56100 broad.mit.edu 37 5 140789059 140789059 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:140789059G>A uc003lkj.1 + 1 1290 c.1290G>A c.(1288-1290)CCG>CCA p.P430P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.P430P NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 430 Extracellular (Potential).|Cadherin 4. 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) GGGGCAAGCCGCCTCTTTCTT 0.532000 TCOF1 6949 broad.mit.edu 37 5 149756083 149756083 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:149756083C>T uc003lry.2 + 14 2348 c.2240C>T c.(2239-2241)ACG>ATG p.T747M TCOF1_uc003lrw.2_Missense_Mutation_p.T747M|TCOF1_uc011dch.1_Missense_Mutation_p.T747M|TCOF1_uc003lrz.2_Missense_Mutation_p.T747M|TCOF1_uc003lrx.2_Missense_Mutation_p.T670M|TCOF1_uc003lsa.2_Missense_Mutation_p.T670M|TCOF1_uc011dci.1_Missense_Mutation_p.T236M NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 747 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGGGAAGACGGGGCCTACA 0.577000 NDST1 3340 broad.mit.edu 37 5 149901098 149901098 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:149901098G>A uc003lsk.3 + 2 784 c.282G>A c.(280-282)TCG>TCA p.S94S NDST1_uc011dcj.1_Silent_p.S94S|NDST1_uc003lsl.2_Silent_p.S94S NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 94 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCTCTACTCGCAACTGGGCC 0.637000 NDST1 3340 broad.mit.edu 37 5 149927851 149927851 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:149927851C>T uc003lsk.3 + 12 2719 c.2217C>T c.(2215-2217)GAC>GAT p.D739D NDST1_uc011dcj.1_Intron NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 739 Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCGGCTCTGACGCATCCTCGA 0.627000 FAT2 2196 broad.mit.edu 37 5 150932777 150932777 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:150932777C>T uc003lue.3 - 5 4130 c.4117G>A c.(4117-4119)GTA>ATA p.V1373I GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1373 Extracellular (Potential).|Cadherin 12. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGCCCTCTACGCTGATGACC 0.587000 WWC1 23286 broad.mit.edu 37 5 167812251 167812251 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:167812251C>T uc003lzu.2 + 3 358 c.265C>T c.(265-267)CGG>TGG p.R89W WWC1_uc003lzv.2_Missense_Mutation_p.R89W|WWC1_uc011den.1_Missense_Mutation_p.R89W NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 89 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AGTACAATGGCGGCGGGAGCA 0.542000 SLIT3 6586 broad.mit.edu 37 5 168096822 168096822 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:168096822G>A uc003mab.2 - 35 4722 c.4302C>T c.(4300-4302)TGC>TGT p.C1434C SLIT3_uc010jjg.2_Silent_p.C1441C NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1434 EGF-like 9. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCCGGGCTGGCACAGGCAGT 0.517000 KCNIP1 30820 broad.mit.edu 37 5 169931586 169931586 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:169931586G>A uc003mas.2 + 1 539 c.10G>A c.(10-12)GTC>ATC p.V4I KCNIP1_uc003map.2_Intron|KCNIP1_uc003mat.2_Missense_Mutation_p.V4I|KCNIP1_uc010jjp.2_5'UTR|KCNIP1_uc010jjq.2_Missense_Mutation_p.V4I NM_001034837 NP_001030009 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 isoform 1 4 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATGGGGGCCGTCATGGGCAC 0.577000 STC2 8614 broad.mit.edu 37 5 172744927 172744927 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:172744927C>T uc003mco.1 - 4 2142 c.832G>A c.(832-834)GGC>AGC p.G278S STC2_uc003mcn.1_Missense_Mutation_p.G193S NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 278 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCCCCAAGGCCCCCGACTCTG 0.607000 HRH2 3274 broad.mit.edu 37 5 175110591 175110591 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:175110591G>A uc003mdd.2 + 1 2128 c.355G>A c.(355-357)GCT>ACT p.A119T HRH2_uc003mdc.3_Missense_Mutation_p.A119T NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 119 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CCGGTACTGCGCTGTCATGGA 0.532000 GPRIN1 114787 broad.mit.edu 37 5 176025084 176025084 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:176025084C>T uc003meo.1 - 2 1927 c.1752G>A c.(1750-1752)CCG>CCA p.P584P NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 584 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGAGGGCACCGGGACTGTTT 0.562000 DOK3 79930 broad.mit.edu 37 5 176931829 176931829 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:176931829T>C uc003mhk.2 - 5 733 c.728A>G c.(727-729)GAC>GGC p.D243G DOK3_uc003mhh.3_Missense_Mutation_p.D73G|DOK3_uc003mhi.3_Missense_Mutation_p.D187G|DOK3_uc003mhj.3_Missense_Mutation_p.D85G|DOK3_uc003mhl.2_Missense_Mutation_p.D187G NM_024872 NP_079148 Q7L591 DOK3_HUMAN docking protein 3 isoform 1 243 IRS-type PTB. cytoplasm|plasma membrane insulin receptor binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) CTGGATGGCGTCTGGGCCCAG 0.687000 ZFP2 80108 broad.mit.edu 37 5 178359583 178359583 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:178359583A>G uc003mjn.1 + 5 1778 c.1269A>G c.(1267-1269)TCA>TCG p.S423S ZFP2_uc010jky.2_Silent_p.S423S|ZFP2_uc010jkx.1_Silent_p.S423S NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 423 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TTAAGAATTCATCCCTTACAG 0.418000 GRM6 2916 broad.mit.edu 37 5 178413361 178413361 + Missense_Mutation SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:178413361A>C uc003mjr.2 - 8 2073 c.1894T>G c.(1894-1896)TTC>GTC p.F632V GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.F215V|GRM6_uc003mjs.1_Missense_Mutation_p.F252V NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 632 Helical; Name=2; (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TAGATGAGGAAGATGCCGGTG 0.667000 ADAMTS2 9509 broad.mit.edu 37 5 178557042 178557042 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:178557042G>T uc003mjw.2 - 16 2348 c.2348C>A c.(2347-2349)GCC>GAC p.A783D NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 783 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TTTGGAACTGGCATCCACGTC 0.567000 ADAMTS2 9509 broad.mit.edu 37 5 178634558 178634558 + Missense_Mutation SNP C C T rs35499429 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:178634558C>T uc003mjw.2 - 4 847 c.847G>A c.(847-849)GGG>AGG p.G283R ADAMTS2_uc011dgm.1_Missense_Mutation_p.G283R NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 283 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGCTCCTTCCCGTGGAACTGC 0.632000 GNB2L1 10399 broad.mit.edu 37 5 180664659 180664659 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:180664659T>C uc003mni.1 - 7 944 c.838A>G c.(838-840)AAG>GAG p.K280E GNB2L1_uc003mnh.1_Missense_Mutation_p.K239E|GNB2L1_uc003mnk.1_Missense_Mutation_p.K202E|GNB2L1_uc003mnj.1_Missense_Mutation_p.K234E|GNB2L1_uc003mnl.1_Missense_Mutation_p.K64E NM_006098 NP_006089 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), 280 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding 0 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) GGTTCTGCCTTGCTGCTGGTA 0.493000 ALDH5A1 7915 broad.mit.edu 37 6 24520684 24520684 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:24520684G>A uc003neg.2 + 6 954 c.926G>A c.(925-927)GGC>GAC p.G309D ALDH5A1_uc003nef.2_Missense_Mutation_p.G322D NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 309 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) GAGCTGGGCGGCCTTGCTCCA 0.512000 HIST1H1A 3024 broad.mit.edu 37 6 26017792 26017792 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:26017792G>A uc003nfo.2 - 1 249 c.169C>T c.(169-171)CGT>TGT p.R57C HIST1H3A_uc003nfp.1_5'Flank NM_005325 NP_005316 Q02539 H11_HUMAN histone cluster 1, H1a 57 H15. nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding ovary(2) 2 ACACCACCACGCTCCTTAGAG 0.572000 NKAPL 222698 broad.mit.edu 37 6 28228207 28228207 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:28228207G>A uc003nkt.2 + 1 1110 c.1058G>A c.(1057-1059)CGA>CAA p.R353Q ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 353 upper_aerodigestive_tract(1)|ovary(1) 2 GAGGCTGTACGACTGCGTAAG 0.453000 PGBD1 84547 broad.mit.edu 37 6 28269950 28269950 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:28269950T>C uc003nky.2 + 7 2689 c.2319T>C c.(2317-2319)AAT>AAC p.N773N PGBD1_uc003nkz.2_Silent_p.N773N NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 773 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 CCATGAACAATGCATGGCAAC 0.408000 OR2W1 26692 broad.mit.edu 37 6 29012665 29012665 + Silent SNP A A C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:29012665A>C uc003nlw.2 - 1 288 c.288T>G c.(286-288)GGT>GGG p.G96G NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GGATGATACAACCCACATAGC 0.433000 OR2H2 7932 broad.mit.edu 37 6 29556131 29556131 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:29556131G>A uc003nmr.1 + 1 449 c.410G>A c.(409-411)CGC>CAC p.R137H GABBR1_uc003nmp.3_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, 137 Cytoplasmic (Potential). defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATCCACCCCCGCCTGTGCTGG 0.612000 HLA-F 3134 broad.mit.edu 37 6 29692855 29692855 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:29692855G>A uc010jrl.2 + 4 782 c.658G>A c.(658-660)GCC>ACC p.A220T HLA-F_uc003nnm.3_Intron|HLA-F_uc003nno.3_Missense_Mutation_p.A220T|HLA-F_uc011dlx.1_Missense_Mutation_p.A220T|HLA-F_uc011dly.1_RNA NM_018950 NP_061823 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 220 Alpha-3.|Extracellular (Potential).|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity 0 TGACCATGAGGCCACCCTGAG 0.592000 TRIM10 10107 broad.mit.edu 37 6 30121852 30121852 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:30121852G>A uc003npo.3 - 7 1416 c.1340C>T c.(1339-1341)GCT>GTT p.A447V TRIM10_uc003npn.2_Intron NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 447 B30.2/SPRY. cytoplasm zinc ion binding 0 TCGGGTGACAGCGTTGGTGAA 0.612000 ABCF1 23 broad.mit.edu 37 6 30550906 30550906 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:30550906G>A uc003nql.2 + 10 951 c.856G>A c.(856-858)GTG>ATG p.V286M ABCF1_uc003nqk.2_Missense_Mutation_p.V287M|ABCF1_uc003nqm.2_Missense_Mutation_p.V248M|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 286 inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 TGACTTCTCCGTGTCCCAGGC 0.498000 ABCF1 23 broad.mit.edu 37 6 30552049 30552049 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:30552049C>T uc003nql.2 + 13 1278 c.1183C>T c.(1183-1185)CGG>TGG p.R395W ABCF1_uc003nqk.2_Missense_Mutation_p.R396W|ABCF1_uc003nqm.2_Missense_Mutation_p.R357W|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 395 ABC transporter 1. inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 GGAAGAGGAGCGGCGGCTTCA 0.592000 TCF19 6941 broad.mit.edu 37 6 31127272 31127272 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:31127272G>A uc003nss.2 + 2 550 c.26G>A c.(25-27)CGC>CAC p.R9H CCHCR1_uc011dne.1_5'Flank|CCHCR1_uc003nsq.3_5'Flank|CCHCR1_uc003nsp.3_5'Flank|CCHCR1_uc003nsr.3_5'Flank|CCHCR1_uc010jsk.1_5'Flank|TCF19_uc003nst.2_Missense_Mutation_p.R9H NM_001077511 NP_001070979 Q9Y242 TCF19_HUMAN transcription factor 19 9 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CAACTGCTGCGCATAGGGGGC 0.667000 BAT2 7916 broad.mit.edu 37 6 31599904 31599904 + Missense_Mutation SNP C C T rs142106114 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:31599904C>T uc003nvb.3 + 16 3703 c.3454C>T c.(3454-3456)CGC>TGC p.R1152C BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R1152C NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1152 4 X 57 AA type A repeats. R -> H (in a breast cancer sample; somatic mutation). cytoplasm|nucleus protein binding 0 AGCCCCAGCCCGCTTCACTGC 0.682000 BAT2 7916 broad.mit.edu 37 6 31600251 31600251 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:31600251C>T uc003nvb.3 + 16 4050 c.3801C>T c.(3799-3801)GCC>GCT p.A1267A BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.A1267A NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1267 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 GGGAGAATGCCGCAAGGGGGT 0.647000 BAT2 7916 broad.mit.edu 37 6 31600727 31600727 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:31600727G>C uc003nvb.3 + 16 4526 c.4277G>C c.(4276-4278)GGA>GCA p.G1426A BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.G1426A NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1426 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 ACCGGGCCAGGACGAGGCGAC 0.607000 BAT2 7916 broad.mit.edu 37 6 31602658 31602658 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:31602658A>G uc003nvb.3 + 21 5313 c.5064A>G c.(5062-5064)GGA>GGG p.G1688G BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.G1688G NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1688 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 AGAGGCCTGGAGGCTCCTCAC 0.612000 BAT5 7920 broad.mit.edu 37 6 31655422 31655422 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:31655422C>T uc003nvy.1 - 18 1573 c.1543G>A c.(1543-1545)GTG>ATG p.V515M BAT5_uc003nvx.1_Missense_Mutation_p.V296M|BAT5_uc011dny.1_Missense_Mutation_p.V482M|BAT5_uc003nvz.1_Missense_Mutation_p.V296M|BAT5_uc011dnz.1_Missense_Mutation_p.V296M NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 515 integral to membrane hydrolase activity|protein binding 0 TCCTTACCCACGCTCCAGGGG 0.597000 TNXB 7148 broad.mit.edu 37 6 32023769 32023769 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:32023769G>A uc003nzl.2 - 24 8528 c.8326C>T c.(8326-8328)CGG>TGG p.R2776W NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2834 Fibronectin type-III 20. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 ACCTGGGGCCGCCCGTCCCTG 0.657000 B3GALT4 8705 broad.mit.edu 37 6 33246260 33246260 + Missense_Mutation SNP C C T rs149120716 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:33246260C>T uc003odr.2 + 1 1344 c.1064C>T c.(1063-1065)GCG>GTG p.A355V NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 355 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 GAAAGGACTGCGCCCTTTTGC 0.612000 RGL2 5863 broad.mit.edu 37 6 33264042 33264042 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:33264042C>G uc003odv.2 - 6 664 c.531G>C c.(529-531)GAG>GAC p.E177D RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_Intron|RGL2_uc003odw.2_Missense_Mutation_p.E95D|RGL2_uc011drb.1_Missense_Mutation_p.E95D NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 177 N-terminal Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 GACCCTTGGCCTCAGAGCCAA 0.577000 KIFC1 3833 broad.mit.edu 37 6 33371779 33371779 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:33371779G>A uc003oef.3 + 6 1079 c.629G>A c.(628-630)CGT>CAT p.R210H KIFC1_uc011drf.1_Missense_Mutation_p.R202H NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN kinesin family member C1 210 Potential. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity 0 AAGAACTTGCGTGCTTGTGTC 0.587000 ITPR3 3710 broad.mit.edu 37 6 33653429 33653429 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:33653429C>T uc011drk.1 + 41 5711 c.5492C>T c.(5491-5493)GCC>GTC p.A1831V ITPR3_uc003oey.2_5'Flank NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 1831 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 GGCCGCGTGGCCTCCTTCTCG 0.687000 SLC26A8 116369 broad.mit.edu 37 6 35967813 35967813 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:35967813G>A uc003olm.2 - 4 512 c.401C>T c.(400-402)TCG>TTG p.S134L SLC26A8_uc003oln.2_Missense_Mutation_p.S134L|SLC26A8_uc003oll.2_Missense_Mutation_p.S134L NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 134 Helical; (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 ATAGATTACCGAAGAACAGAA 0.393000 DNAH8 1769 broad.mit.edu 37 6 38759438 38759438 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:38759438G>A uc003ooe.1 + 19 2838 c.2238G>A c.(2236-2238)TTG>TTA p.L746L 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 AAGATATGTTGACCCTCAATG 0.348000 DAAM2 23500 broad.mit.edu 37 6 39869799 39869799 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:39869799C>T uc003oow.2 + 25 3349 c.3193C>T c.(3193-3195)CGG>TGG p.R1065W DAAM2_uc003oox.2_Missense_Mutation_p.R1064W NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 1065 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) GGCAATAAACCGGCTAAATTA 0.567000 TFEB 7942 broad.mit.edu 37 6 41652368 41652368 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:41652368C>A uc003oqs.1 - 10 1702 c.1400G>T c.(1399-1401)AGC>ATC p.S467I TFEB_uc003oqt.1_Missense_Mutation_p.S467I|TFEB_uc003oqu.1_Missense_Mutation_p.S481I|TFEB_uc003oqr.1_Missense_Mutation_p.S382I NM_007162 NP_009093 P19484 TFEB_HUMAN transcription factor EB 467 EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1). embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CATGCTGAAGCTGCTCCGGCG 0.687000 T ALPHA renal (childhood epithelioid) MED20 9477 broad.mit.edu 37 6 41877053 41877053 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:41877053A>G uc003ork.2 - 3 498 c.377T>C c.(376-378)GTG>GCG p.V126A MED20_uc003orj.2_Missense_Mutation_p.V61A|MED20_uc011duh.1_Intron|MED20_uc011dui.1_Intron|MED20_uc011duj.1_Missense_Mutation_p.V61A NM_004275 NP_004266 Q9H944 MED20_HUMAN Trf (TATA binding protein-related 126 regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|protein binding 0 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GACCGTGCCCACCTTCACCAG 0.557000 TAF8 129685 broad.mit.edu 37 6 42023690 42023690 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:42023690G>A uc003ors.2 + 4 331 c.302G>A c.(301-303)GGT>GAT p.G101D TAF8_uc003orr.2_Missense_Mutation_p.G101D|TAF8_uc003ort.2_Missense_Mutation_p.G101D|TAF8_uc003oru.1_Missense_Mutation_p.G101D|TAF8_uc003orv.1_Missense_Mutation_p.G101D|TAF8_uc011dun.1_Missense_Mutation_p.G38D NM_138572 NP_612639 Q7Z7C8 TAF8_HUMAN TBP-associated factor 8 101 Histone-fold. cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding ovary(1) 1 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) TGTCTCTTAGGTTTCAATGTG 0.403000 ABCC10 89845 broad.mit.edu 37 6 43412000 43412000 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:43412000C>T uc003ouy.1 + 12 2813 c.2598C>T c.(2596-2598)GGC>GGT p.G866G ABCC10_uc003ouz.1_Silent_p.G838G|ABCC10_uc010jyo.1_5'UTR NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 866 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AGAAGGAGGGCGCCGTGGCCT 0.587000 GTPBP2 54676 broad.mit.edu 37 6 43589437 43589437 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:43589437G>A uc003ovs.2 - 12 1760 c.1723C>T c.(1723-1725)CGG>TGG p.R575W GTPBP2_uc010jyv.2_Missense_Mutation_p.R487W|GTPBP2_uc003ovt.1_Intron NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN GTP binding protein 2 575 GTP binding|GTPase activity liver(1)|skin(1) 2 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) ACACCCTCCCGGAACAGCAGT 0.572000 SUPT3H 8464 broad.mit.edu 37 6 44922295 44922295 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:44922295C>A uc003oxo.2 - 10 981 c.663G>T c.(661-663)GAG>GAT p.E221D SUPT3H_uc003oxn.1_Missense_Mutation_p.E210D|SUPT3H_uc011dvv.1_Missense_Mutation_p.E58D|SUPT3H_uc003oxp.2_Missense_Mutation_p.E210D|SUPT3H_uc011dvw.1_Missense_Mutation_p.E124D NM_181356 NP_852001 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog isoform 2 292 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity ovary(2)|breast(1) 3 TGGGTTTTATCTCCATACTGC 0.378000 DST 667 broad.mit.edu 37 6 56374631 56374631 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:56374631C>T uc003pdf.2 - 68 12492 c.12464G>A c.(12463-12465)CGC>CAC p.R4155H DST_uc003pcz.3_Missense_Mutation_p.R3977H|DST_uc011dxj.1_Missense_Mutation_p.R4006H|DST_uc011dxk.1_Missense_Mutation_p.R4017H|DST_uc003pcy.3_Missense_Mutation_p.R3651H NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6063 Spectrin 12. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTCCACGATGCGTTCCAGGCT 0.423000 BAI3 577 broad.mit.edu 37 6 69772890 69772890 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:69772890G>A uc003pev.3 + 16 2846 c.2398G>A c.(2398-2400)GAT>AAT p.D800N BAI3_uc010kak.2_Missense_Mutation_p.D800N NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 800 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CAAAACAACCGATTCGTTTCT 0.363000 IBTK 25998 broad.mit.edu 37 6 82909923 82909923 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:82909923C>T uc003pjl.1 - 21 3487 c.2960G>A c.(2959-2961)CGT>CAT p.R987H IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.R987H|IBTK_uc011dyw.1_Missense_Mutation_p.R786H|IBTK_uc010kbi.1_Missense_Mutation_p.R681H|IBTK_uc003pjm.2_Missense_Mutation_p.R987H NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 987 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TGAACGTTTACGTGGCTTCTT 0.299000 HTR1E 3354 broad.mit.edu 37 6 87725581 87725581 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:87725581C>T uc003pli.2 + 2 1232 c.529C>T c.(529-531)CAC>TAC p.H177Y NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 177 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CACCATCCAGCACGACCATGT 0.522000 ORC3L 23595 broad.mit.edu 37 6 88318943 88318943 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:88318943A>G uc003pmh.2 + 7 753 c.709A>G c.(709-711)AGC>GGC p.S237G ORC3L_uc011dzl.1_Missense_Mutation_p.S237G|ORC3L_uc011dzm.1_Missense_Mutation_p.S237G|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.S237G|ORC3L_uc003pmi.2_Missense_Mutation_p.S237G|ORC3L_uc011dzo.1_Missense_Mutation_p.S94G|ORC3L_uc011dzp.1_Missense_Mutation_p.S94G NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 237 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) CATAATTATCAGCAGGTAGAT 0.343000 BACH2 60468 broad.mit.edu 37 6 90661243 90661243 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:90661243G>A uc011eab.1 - 7 1391 c.582C>T c.(580-582)GCC>GCT p.A194A BACH2_uc003pnw.2_Silent_p.A194A|BACH2_uc010kch.2_Silent_p.A194A NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 194 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GGATGGCGGCGGCCTCAAAGC 0.597000 EPHA7 2045 broad.mit.edu 37 6 93956681 93956681 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:93956681C>T uc003poe.2 - 15 2796 c.2555G>A c.(2554-2556)GGT>GAT p.G852D EPHA7_uc003pof.2_Missense_Mutation_p.G847D|EPHA7_uc011eac.1_Missense_Mutation_p.G848D NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 852 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TAAACGATAACCTTCTTCTAT 0.388000 SIM1 6492 broad.mit.edu 37 6 100895166 100895166 + Missense_Mutation SNP C C T rs41285857 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:100895166C>T uc003pqj.3 - 8 1183 c.976G>A c.(976-978)GTC>ATC p.V326I SIM1_uc010kcu.2_Missense_Mutation_p.V326I NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 326 PAC. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TTGACGCTGACGATACAGTGT 0.622000 BEND3 57673 broad.mit.edu 37 6 107391957 107391957 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:107391957C>T uc003prs.2 - 5 1088 c.438G>A c.(436-438)TCG>TCA p.S146S NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 146 ovary(3) 3 GCAGGTCCCCCGAGGGAGGAT 0.572000 SLC16A10 117247 broad.mit.edu 37 6 111498611 111498611 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:111498611G>T uc003pus.2 + 3 860 c.685G>T c.(685-687)GGC>TGC p.G229C SLC16A10_uc003pur.3_Missense_Mutation_p.G229C|SLC16A10_uc003put.2_5'UTR NM_018593 NP_061063 Q8TF71 MOT10_HUMAN solute carrier family 16, member 10 229 Helical; (Potential). aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity 0 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TGACAGCGTGGGCCTCTTTTA 0.483000 NKAIN2 154215 broad.mit.edu 37 6 124125394 124125394 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:124125394C>T uc003pzo.2 + 1 326 c.49C>T c.(49-51)CAA>TAA p.Q17* NKAIN2_uc003pzn.1_Nonsense_Mutation_p.Q17*|NKAIN2_uc003pzp.2_5'UTR|NKAIN2_uc010keq.2_Nonsense_Mutation_p.Q17*|NKAIN2_uc010kep.1_RNA NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 17 Helical; (Potential). integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) CTGTGGCATGCAACTGGTAAG 0.537000 C6orf191 253582 broad.mit.edu 37 6 130164727 130164727 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:130164727C>A uc003qbs.2 - 3 224 c.141G>T c.(139-141)CTG>CTT p.L47L NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN hypothetical protein LOC253582 47 integral to membrane large_intestine(1) 1 GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131) CAAATGGAGCCAGGACATTCA 0.333000 PLAGL1 5325 broad.mit.edu 37 6 144269239 144269239 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:144269239G>A uc003qjv.2 - 2 1301 c.35C>T c.(34-36)ACG>ATG p.T12M PLAGL1_uc003qjx.2_Missense_Mutation_p.T12M|PLAGL1_uc003qjy.2_Missense_Mutation_p.T12M|PLAGL1_uc010khl.2_Missense_Mutation_p.T12M|PLAGL1_uc010khm.2_Missense_Mutation_p.T12M|PLAGL1_uc003qjz.2_Missense_Mutation_p.T12M|PLAGL1_uc003qka.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkb.2_Intron|PLAGL1_uc003qkc.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkd.2_Intron|PLAGL1_uc003qke.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkf.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkg.2_Intron|PLAGL1_uc003qkh.2_Missense_Mutation_p.T12M|PLAGL1_uc003qki.2_Intron|PLAGL1_uc003qkj.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkk.2_Intron|PLAGL1_uc003qkl.2_Intron|PLAGL1_uc003qkm.2_Missense_Mutation_p.T12M|PLAGL1_uc010khn.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkn.2_Intron|PLAGL1_uc003qko.2_Missense_Mutation_p.T12M|PLAGL1_uc003qkp.2_Intron|PLAGL1_uc003qjw.2_Intron NM_002656 NP_002647 Q9UM63 PLAL1_HUMAN pleiomorphic adenoma gene-like 1 isoform 1 12 C2H2-type 1. cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) GGTGAGGAACGTCTTGCCACA 0.512000 UTRN 7402 broad.mit.edu 37 6 145114977 145114977 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:145114977T>C uc003qkt.2 + 62 9020 c.8928T>C c.(8926-8928)TTT>TTC p.F2976F NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2976 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CAGATCTCTTTAAGGAAGTTG 0.453000 SHPRH 257218 broad.mit.edu 37 6 146256278 146256278 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:146256278C>T uc003qlf.2 - 13 3154 c.2755G>A c.(2755-2757)GAA>AAA p.E919K SHPRH_uc003qld.2_Missense_Mutation_p.E919K|SHPRH_uc003qle.2_Missense_Mutation_p.E919K|SHPRH_uc003qlg.1_Missense_Mutation_p.E475K|SHPRH_uc003qlj.1_Missense_Mutation_p.E808K|SHPRH_uc003qlh.2_5'Flank NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 919 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGTATTTCTTCGGTTTGTGGT 0.388000 UST 10090 broad.mit.edu 37 6 149285691 149285691 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:149285691C>T uc003qmg.2 + 5 969 c.673C>T c.(673-675)CGC>TGC p.R225C uc003qmh.1_Intron NM_005715 NP_005706 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 225 Lumenal (Potential). protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) GCAGGAGGAGCGCTACCTGGT 0.567000 AKAP12 9590 broad.mit.edu 37 6 151674332 151674332 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:151674332G>A uc011eep.1 + 4 5046 c.4806G>A c.(4804-4806)CAG>CAA p.Q1602Q AKAP12_uc003qoe.2_Silent_p.Q1602Q|AKAP12_uc003qof.2_Silent_p.Q1504Q|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.Q1497Q NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 1602 Q -> L (in Ref. 2; BAA19927). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AGGAACCTCAGGCCTCTGCAC 0.488000 C6orf97 80129 broad.mit.edu 37 6 151857472 151857472 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:151857472C>T uc003qol.2 + 2 166 c.77C>T c.(76-78)TCG>TTG p.S26L NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 26 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GATCATCTTTCGGAAGTCCCG 0.428000 IPCEF1 26034 broad.mit.edu 37 6 154542444 154542444 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:154542444A>G uc003qpx.2 - 7 492 c.336T>C c.(334-336)CAT>CAC p.H112H OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpw.2_Silent_p.H113H|IPCEF1_uc010kjh.2_Silent_p.H113H NM_015553 NP_056368 Q8WWN9 ICEF1_HUMAN phosphoinositide-binding protein PIP3-E isoform 112 PH. response to oxidative stress cytoplasm|plasma membrane oxygen transporter activity|peroxidase activity 0 TGATCTGTGGATGGCTGATCT 0.358000 EZR 7430 broad.mit.edu 37 6 159206516 159206516 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:159206516T>C uc003qrt.3 - 4 507 c.292A>G c.(292-294)ACC>GCC p.T98A EZR_uc011efs.1_Missense_Mutation_p.T66A|EZR_uc003qru.3_Missense_Mutation_p.T98A NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 98 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) AGTTTCTGGGTGATGTCCTGG 0.552000 FNDC1 84624 broad.mit.edu 37 6 159655397 159655397 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:159655397G>A uc010kjv.2 + 11 4053 c.3853G>A c.(3853-3855)GCC>ACC p.A1285T FNDC1_uc010kjw.1_Missense_Mutation_p.A1170T NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1285 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CACCACGCGCGCCCCACCTGG 0.701000 SLC22A2 6582 broad.mit.edu 37 6 160679635 160679635 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:160679635C>T uc003qtf.2 - 1 325 c.155G>A c.(154-156)CGG>CAG p.R52Q SLC22A2_uc003qte.1_Missense_Mutation_p.R52Q|SLC22A2_uc003qth.1_Missense_Mutation_p.R52Q NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 52 Extracellular (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TCCGGGGCTCCGGCAGCGGTG 0.647000 MLLT4 4301 broad.mit.edu 37 6 168352841 168352841 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:168352841C>T uc003qwd.2 + 29 4925 c.4783C>T c.(4783-4785)CGC>TGC p.R1595C MLLT4_uc003qwb.1_Missense_Mutation_p.R1580C|MLLT4_uc003qwc.1_Missense_Mutation_p.R1596C|MLLT4_uc003qwg.1_Missense_Mutation_p.R905C NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1596 Potential. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GATCATGCAGCGCCTGGAGGC 0.408000 T MLL AL THBS2 7058 broad.mit.edu 37 6 169622298 169622298 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:169622298C>T uc003qwt.2 - 20 3515 c.3267G>A c.(3265-3267)CCG>CCA p.P1089P NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 1089 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity 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) TCACCTGCCCCGGCGTGTTCC 0.647000 MAD1L1 8379 broad.mit.edu 37 7 2255800 2255800 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:2255800C>T uc003slh.1 - 8 1067 c.801G>A c.(799-801)GCG>GCA p.A267A MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.A267A|MAD1L1_uc003slg.1_Silent_p.A267A|MAD1L1_uc010ksh.1_Silent_p.A267A|MAD1L1_uc003sli.1_Silent_p.A175A|MAD1L1_uc010ksi.1_Silent_p.A220A|MAD1L1_uc010ksj.2_Silent_p.A267A NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 267 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) ACCGCAGGTGCGCGCTCTCCT 0.632000 TNRC18 84629 broad.mit.edu 37 7 5401291 5401291 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:5401291C>T uc003soi.3 - 14 4944 c.4595G>A c.(4594-4596)CGG>CAG p.R1532Q NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 1532 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGCGTGGGTCCGTTTCCGCGG 0.672000 FBXL18 80028 broad.mit.edu 37 7 5540810 5540810 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:5540810G>A uc003soo.2 - 3 1184 c.1090C>T c.(1090-1092)CGC>TGC p.R364C FBXL18_uc003son.3_Missense_Mutation_p.R364C NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 364 central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) TCCGCCTTGCGGAGCAGCGAG 0.657000 DAGLB 221955 broad.mit.edu 37 7 6464452 6464452 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:6464452C>T uc003sqa.2 - 8 1241 c.1071G>A c.(1069-1071)CCG>CCA p.P357P DAGLB_uc003spz.2_5'Flank|DAGLB_uc011jwt.1_Silent_p.P171P|DAGLB_uc011jwu.1_Silent_p.P228P|DAGLB_uc003sqb.2_Silent_p.P76P|DAGLB_uc003sqc.2_Silent_p.P76P|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.P316P|DAGLB_uc011jww.1_RNA NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 357 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CCACTAAAAACGGCAGCTCGT 0.547000 GLCCI1 113263 broad.mit.edu 37 7 8043675 8043675 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:8043675G>T uc003srk.2 + 2 1154 c.595G>T c.(595-597)GAC>TAC p.D199Y NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 199 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) ATGCATGAAAGACAAAGCTAC 0.388000 ETV1 2115 broad.mit.edu 37 7 13949284 13949284 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:13949284T>G uc011jxq.1 - 11 1652 c.913A>C c.(913-915)ACC>CCC p.T305P ETV1_uc011jxn.1_Missense_Mutation_p.T265P|ETV1_uc011jxo.1_Missense_Mutation_p.T202P|ETV1_uc011jxp.1_Missense_Mutation_p.T247P|ETV1_uc003ssw.3_Missense_Mutation_p.T282P|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.T287P|ETV1_uc011jxs.1_Missense_Mutation_p.T287P|ETV1_uc010ktv.2_Silent_p.T173T NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 305 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 ACAACACAGGTGTCATCATAA 0.373000 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate HOXA9 3205 broad.mit.edu 37 7 27203381 27203381 + Missense_Mutation SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:27203381T>A uc003syt.2 - 2 733 c.660A>T c.(658-660)GAA>GAT p.E220D NM_152739 NP_689952 P31269 HXA9_HUMAN homeobox A9 220 Homeobox. protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E220K(1) lung(1)|central_nervous_system(1) 2 CTTTCTCCAGTTCCAGGGTCT 0.552000 T NUP98|MSI2 AML* CCDC129 223075 broad.mit.edu 37 7 31683217 31683217 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:31683217G>A uc003tcj.1 + 11 3226 c.2233G>A c.(2233-2235)GCA>ACA p.A745T CCDC129_uc011kad.1_Missense_Mutation_p.A755T|CCDC129_uc003tci.1_Missense_Mutation_p.A596T|CCDC129_uc011kae.1_Missense_Mutation_p.A771T|CCDC129_uc003tck.1_Missense_Mutation_p.A653T NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 745 0 TCCTGTTACCGCAACAGAAAC 0.522000 C7orf10 79783 broad.mit.edu 37 7 40277271 40277271 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:40277271T>C uc003thn.1 + 7 567 c.522T>C c.(520-522)GGT>GGC p.G174G C7orf10_uc003thm.1_Silent_p.G144G|C7orf10_uc003tho.1_Silent_p.G174G NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 181 transferase activity ovary(2) 2 AGCGAGCTGGTTATGATGCTG 0.423000 ABCA13 154664 broad.mit.edu 37 7 48431646 48431646 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:48431646A>G uc003toq.2 + 38 11808 c.11783A>G c.(11782-11784)GAC>GGC p.D3928G ABCA13_uc010kys.1_Missense_Mutation_p.D1002G|ABCA13_uc003tos.1_Missense_Mutation_p.D754G|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3928 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATCCTGTTGGACAACCTCACC 0.507000 ZNF107 51427 broad.mit.edu 37 7 64167492 64167492 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:64167492A>G uc003ttd.2 + 7 1596 c.810A>G c.(808-810)AAA>AAG p.K270K ZNF107_uc003tte.2_Silent_p.K270K NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) CTGGGGAGAAACCCTACAAAT 0.363000 GTPBP10 85865 broad.mit.edu 37 7 89984426 89984426 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:89984426A>T uc003ukm.1 + 4 412 c.346A>T c.(346-348)ATT>TTT p.I116F GTPBP10_uc003uki.1_Missense_Mutation_p.I133F|GTPBP10_uc003ukj.1_Missense_Mutation_p.I107F|GTPBP10_uc003ukk.1_Intron|GTPBP10_uc003ukl.1_RNA|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_Intron NM_033107 NP_149098 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 isoform 2 116 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding 0 AAATGACAGAATTTTGGTAGC 0.318000 MTERF 7978 broad.mit.edu 37 7 91503062 91503062 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:91503062G>T uc003ulb.1 - 2 1090 c.1046C>A c.(1045-1047)CCT>CAT p.P349H MTERF_uc010let.1_Intron|MTERF_uc003ulc.1_Missense_Mutation_p.P349H|MTERF_uc011khm.1_Missense_Mutation_p.P329H|MTERF_uc010leu.1_Missense_Mutation_p.P329H NM_006980 NP_008911 Q99551 MTERF_HUMAN mitochondrial transcription termination factor 349 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding 0 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) CAGAACCCGAGGATTTTCGAT 0.343000 BAIAP2L1 55971 broad.mit.edu 37 7 97946561 97946561 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:97946561G>A uc003upj.2 - 6 719 c.456C>T c.(454-456)AAC>AAT p.N152N NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 152 Potential.|IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) ATTTGAGTGCGTTTCGGCTTC 0.348000 GIGYF1 64599 broad.mit.edu 37 7 100279976 100279976 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:100279976C>T uc003uwg.1 - 21 3739 c.2730G>A c.(2728-2730)CTG>CTA p.L910L NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 910 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCAGCGTGTGCAGCATCTGCT 0.677000 LRRC17 10234 broad.mit.edu 37 7 102574941 102574941 + Missense_Mutation SNP G G C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:102574941G>C uc003vau.2 + 2 970 c.581G>C c.(580-582)AGT>ACT p.S194T FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Missense_Mutation_p.S194T NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 isoform 1 194 LRRCT 1. bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space ovary(1) 1 AAGTGTGAAAGTCCACAAGAA 0.413000 SLC26A5 375611 broad.mit.edu 37 7 103018957 103018957 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:103018957G>A uc003vbz.2 - 17 1957 c.1721C>T c.(1720-1722)GCC>GTC p.A574V SLC26A5_uc003vbt.1_Missense_Mutation_p.A574V|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.A542V|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_Intron NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 574 Cytoplasmic (Potential).|STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 CTTCCGCATGGCCTTTCTCCT 0.478000 SRPK2 6733 broad.mit.edu 37 7 104766779 104766779 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:104766779C>T uc003vct.2 - 14 1985 c.1798G>A c.(1798-1800)GCC>ACC p.A600T SRPK2_uc003vcu.2_Missense_Mutation_p.A600T|SRPK2_uc003vcv.2_Missense_Mutation_p.A611T|SRPK2_uc003vcs.1_RNA NM_182691 NP_872633 P78362 SRPK2_HUMAN serine/arginine-rich protein-specific kinase 2 600 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1) 6 ATGATGTGGGCTATGTGGTCT 0.413000 RNF148 378925 broad.mit.edu 37 7 122342670 122342670 + Silent SNP T T A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:122342670T>A uc003vkk.1 - 1 352 c.135A>T c.(133-135)ACA>ACT p.T45T CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Silent_p.T45T NM_198085 NP_932351 Q8N7C7 RN148_HUMAN ring finger protein 148 precursor 45 integral to membrane zinc ion binding 0 CAACCTGAAATGTTATATTCA 0.443000 SND1 27044 broad.mit.edu 37 7 127729669 127729669 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:127729669C>T uc003vmi.2 + 22 2773 c.2547C>T c.(2545-2547)GGC>GGT p.G849G SND1_uc010lle.2_Silent_p.G502G NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 849 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 ATTCCAAGGGCGATGTGGGGC 0.587000 FLNC 2318 broad.mit.edu 37 7 128495311 128495311 + Silent SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:128495311G>T uc003vnz.3 + 43 7403 c.7194G>T c.(7192-7194)GTG>GTT p.V2398V FLNC_uc003voa.3_Silent_p.V2365V NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2398 Filamin 21. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GCCCCTTTGTGGTGCCTGTGG 0.587000 FLNC 2318 broad.mit.edu 37 7 128497221 128497221 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:128497221C>A uc003vnz.3 + 46 7820 c.7611C>A c.(7609-7611)GCC>GCA p.A2537A FLNC_uc003voa.3_Silent_p.A2504A NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2537 Interaction with INPPL1.|Filamin 23. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GCTCGGGGGCCTTGTCTGTCA 0.607000 PLXNA4 91584 broad.mit.edu 37 7 131865401 131865401 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:131865401A>T uc003vra.3 - 19 3812 c.3583T>A c.(3583-3585)TCA>ACA p.S1195T NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1195 IPT/TIG 4.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TGGACATCTGACACGGTCACG 0.602000 AKR1B10 57016 broad.mit.edu 37 7 134215432 134215432 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:134215432C>T uc003vrr.2 + 2 424 c.104C>T c.(103-105)GCC>GTC p.A35V NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 35 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 GTGAAGGTGGCCATTGATGCA 0.393000 CNTNAP2 26047 broad.mit.edu 37 7 147675067 147675067 + Missense_Mutation SNP G G A rs73464271 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:147675067G>A uc003weu.1 + 15 2885 c.2369G>A c.(2368-2370)CGC>CAC p.R790H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 790 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGTCCTCTGCGCTGCCAAGGA 0.473000 HNSCC(39;0.1) ZNF862 643641 broad.mit.edu 37 7 149558011 149558011 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:149558011G>A uc010lpn.2 + 7 1954 c.1762G>A c.(1762-1764)GTG>ATG p.V588M ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 588 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 CACGGGGACCGTGATATTAGG 0.532000 ASB10 136371 broad.mit.edu 37 7 150873302 150873302 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:150873302C>T uc003wjm.1 - 5 1562 c.1436G>A c.(1435-1437)CGC>CAC p.R479H ASB10_uc003wjl.1_Missense_Mutation_p.R441H|ASB10_uc003wjn.1_Missense_Mutation_p.R419H NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 434 SOCS box. intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGGTGGGAGCGGAGCGCACA 0.662000 MLL3 58508 broad.mit.edu 37 7 151917681 151917681 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:151917681G>A uc003wla.2 - 23 3858 c.3639C>T c.(3637-3639)AGC>AGT p.S1213S MLL3_uc003wkz.2_Silent_p.S274S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1213 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GGACGGCCACGCTATTCTGAT 0.398000 N medulloblastoma HTR5A 3361 broad.mit.edu 37 7 154863212 154863212 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:154863212C>T uc003wlu.1 + 1 667 c.603C>T c.(601-603)GCC>GCT p.A201A uc011kvt.1_5'UTR|uc003wlt.2_5'UTR NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 201 Helical; Name=5; (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTTCCTACGCCGTGTTCTCCA 0.612000 CSMD1 64478 broad.mit.edu 37 8 3611465 3611465 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:3611465G>A uc011kwk.1 - 6 1308 c.918C>T c.(916-918)AAC>AAT p.N306N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 306 Extracellular (Potential).|CUB 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGAACTGAGCGTTAAATCCTT 0.418000 MFHAS1 9258 broad.mit.edu 37 8 8749608 8749608 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:8749608G>A uc003wsj.1 - 1 1524 c.961C>T c.(961-963)CTT>TTT p.L321F NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 321 LRR 12. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) AAGGTGAGAAGCCGGCCCAGG 0.637000 FAM167A 83648 broad.mit.edu 37 8 11282136 11282136 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:11282136G>A uc010lry.1 - 3 1011 c.391C>T c.(391-393)CGG>TGG p.R131W C8orf12_uc003wtu.2_Intron|C8orf12_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Missense_Mutation_p.R131W NM_053279 NP_444509 Q96KS9 F167A_HUMAN hypothetical protein LOC83648 131 Potential. 0 TCCTGCAGCCGCATCTCCGTC 0.607000 DLC1 10395 broad.mit.edu 37 8 12956978 12956978 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:12956978G>A uc003wwm.2 - 9 3312 c.2868C>T c.(2866-2868)AAC>AAT p.N956N DLC1_uc003wwk.1_Silent_p.N519N|DLC1_uc003wwl.1_Silent_p.N553N|DLC1_uc011kxx.1_Silent_p.N445N NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 956 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TGGTTCGGTCGTTGTCCACAT 0.582000 ADRA1A 148 broad.mit.edu 37 8 26627887 26627887 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:26627887C>T uc003xfh.1 - 2 1616 c.1180G>A c.(1180-1182)GTT>ATT p.V394I ADRA1A_uc003xfc.1_Missense_Mutation_p.V394I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V394I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V394I NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 394 Cytoplasmic (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) CATTCACAAACGCCATCCGTC 0.552000 HMBOX1 79618 broad.mit.edu 37 8 28827712 28827712 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:28827712A>G uc003xhd.3 + 3 518 c.176A>G c.(175-177)GAC>GGC p.D59G HMBOX1_uc010lvd.2_Missense_Mutation_p.D59G|HMBOX1_uc003xhc.3_Missense_Mutation_p.D59G|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.D59G|HMBOX1_uc011lay.1_Missense_Mutation_p.D59G|HMBOX1_uc003xhf.2_Missense_Mutation_p.D47G|HMBOX1_uc003xhg.2_Missense_Mutation_p.D47G NM_001135726 NP_001129198 Q6NT76 HMBX1_HUMAN homeobox containing 1 59 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) GAGCATAGTGACAAGTTTGGA 0.453000 ERLIN2 11160 broad.mit.edu 37 8 37607921 37607921 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:37607921A>G uc003xke.3 + 9 681 c.566A>G c.(565-567)GAG>GGG p.E189G LOC728024_uc010lvx.1_5'Flank NM_007175 NP_009106 O94905 ERLN2_HUMAN ER lipid raft associated 2 isoform 1 189 Interaction with ERLIN1.|Lumenal (Potential). ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding 0 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AGGGAAAGTGAGAAGACAAAG 0.493000 ADAM32 203102 broad.mit.edu 37 8 39022629 39022629 + Silent SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:39022629T>C uc003xmt.3 + 9 992 c.747T>C c.(745-747)GGT>GGC p.G249G ADAM32_uc011lch.1_Silent_p.G256G|ADAM32_uc003xmu.3_Silent_p.G249G NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 249 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CTACAGTTGGTGAGGCAGATG 0.303000 ANK1 286 broad.mit.edu 37 8 41530179 41530179 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:41530179C>A uc003xok.2 - 38 4873 c.4789G>T c.(4789-4791)GGT>TGT p.G1597C NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.G1597C|ANK1_uc003xoj.2_Missense_Mutation_p.G1597C|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.G1638C NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1597 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CACTCGTGACCTGTGGCATCA 0.602000 DKK4 27121 broad.mit.edu 37 8 42231818 42231818 + Missense_Mutation SNP G G A rs140976265 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:42231818G>A uc003xpb.2 - 4 586 c.475C>T c.(475-477)CGT>TGT p.R159C NM_014420 NP_055235 Q9UBT3 DKK4_HUMAN dickkopf homolog 4 precursor 159 DKK-type Cys-2. multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region ovary(1) 1 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024) CAAAAATGACGAGCACAGCAA 0.448000 KIAA0146 23514 broad.mit.edu 37 8 48353071 48353071 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:48353071G>A uc003xqd.2 + 8 1073 c.1064G>A c.(1063-1065)CGT>CAT p.R355H KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.R44H|KIAA0146_uc011ldb.1_Missense_Mutation_p.R355H|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.R285H|KIAA0146_uc011ldd.1_Missense_Mutation_p.R295H|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.R44H|KIAA0146_uc010lxt.2_Missense_Mutation_p.R44H NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 355 0 Lung NSC(58;0.175) CTCAGGGGCCGTCCCCAGGAC 0.572000 PXDNL 137902 broad.mit.edu 37 8 52258393 52258393 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:52258393C>G uc003xqu.3 - 20 4117 c.4016G>C c.(4015-4017)AGG>ACG p.R1339T PXDNL_uc003xqt.3_Intron NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1339 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTATACATACCTACTTCTTAG 0.348000 TERF1 7013 broad.mit.edu 37 8 73942591 73942591 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:73942591C>T uc003xzd.2 + 7 933 c.908C>T c.(907-909)GCG>GTG p.A303V TERF1_uc003xze.2_Intron NM_017489 NP_059523 P54274 TERF1_HUMAN telomeric repeat binding factor 1 isoform 1 303 Interaction with RLIM. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding ovary(1)|lung(1)|skin(1) 3 Breast(64;0.218) Epithelial(68;0.0984) AAACAGTCTGCGGTAACTGAA 0.333000 ZBTB10 65986 broad.mit.edu 37 8 81399898 81399898 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:81399898G>A uc003ybx.3 + 1 1451 c.853G>A c.(853-855)GTG>ATG p.V285M ZBTB10_uc003ybv.3_Intron|ZBTB10_uc003ybw.3_Missense_Mutation_p.V285M|ZBTB10_uc010lzt.2_Missense_Mutation_p.V285M NM_001105539 NP_001099009 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 isoform 285 transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1) 1 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) TGGGGGAAGCGTGGACCTTCC 0.577000 GDF6 392255 broad.mit.edu 37 8 97156923 97156923 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:97156923G>A uc003yhp.2 - 2 1336 c.1236C>T c.(1234-1236)CCC>CCT p.P412P NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 412 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GGGTGGAGCCGGGGTCCATGG 0.597000 MATN2 4147 broad.mit.edu 37 8 98943442 98943442 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:98943442T>G uc003yic.2 + 3 635 c.404T>G c.(403-405)ATG>AGG p.M135R MATN2_uc003yib.1_Missense_Mutation_p.M135R|MATN2_uc010mbh.1_Missense_Mutation_p.M135R|MATN2_uc003yid.2_Missense_Mutation_p.M135R|MATN2_uc003yie.1_Missense_Mutation_p.M135R|MATN2_uc010mbi.1_Missense_Mutation_p.M9R NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 135 VWFA 1. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) ACGGGCACCATGACTGGGCTG 0.582000 VPS13B 157680 broad.mit.edu 37 8 100287380 100287380 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:100287380A>G uc003yiv.2 + 19 2833 c.2722A>G c.(2722-2724)AAG>GAG p.K908E VPS13B_uc003yiw.2_Missense_Mutation_p.K908E|VPS13B_uc003yiu.1_Missense_Mutation_p.K908E|VPS13B_uc003yix.1_Missense_Mutation_p.K379E NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 908 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) TCATAGCACCAAGTGGCTCAA 0.383000 RNF19A 25897 broad.mit.edu 37 8 101271170 101271170 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:101271170G>T uc003yjj.1 - 11 2448 c.2131C>A c.(2131-2133)CCA>ACA p.P711T RNF19A_uc003yjk.1_Missense_Mutation_p.P711T NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 711 Interaction with CASR. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CTGAGGGATGGAGCCTCAAAT 0.403000 OREG0018897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DCAF13 25879 broad.mit.edu 37 8 104432506 104432506 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:104432506G>T uc003yln.2 + 2 818 c.541G>T c.(541-543)GAT>TAT p.D181Y DCAF13_uc003ylm.1_Intron|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing 29 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 AAGAAACTATGATCCTGCTTT 0.363000 RIMS2 9699 broad.mit.edu 37 8 105105702 105105702 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:105105702C>T uc003yls.2 + 21 2966 c.2725C>T c.(2725-2727)CGA>TGA p.R909* RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R982*|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 365 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TTAACAGTATCGATCAGGATG 0.388000 HNSCC(12;0.0054) LRP12 29967 broad.mit.edu 37 8 105509814 105509814 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:105509814C>A uc003yma.2 - 5 1061 c.966G>T c.(964-966)GAG>GAT p.E322D LRP12_uc003ymb.2_Missense_Mutation_p.E303D|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 322 Extracellular (Potential).|CUB 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTGGATTCTCCTCTAATCCAT 0.383000 SLC30A8 169026 broad.mit.edu 37 8 118170071 118170071 + Missense_Mutation SNP C C T rs141202988 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:118170071C>T uc003yoh.2 + 4 790 c.560C>T c.(559-561)GCG>GTG p.A187V SLC30A8_uc010mcz.2_Missense_Mutation_p.A138V|SLC30A8_uc011lia.1_Missense_Mutation_p.A138V|SLC30A8_uc003yog.2_Missense_Mutation_p.A138V NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 187 Helical; (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity p.A187V(1) ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TGCGCAGTGGCGGCCAACATT 0.517000 MED30 90390 broad.mit.edu 37 8 118540959 118540959 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:118540959C>T uc003yoj.2 + 2 398 c.247C>T c.(247-249)CGC>TGC p.R83C MED30_uc011lib.1_Missense_Mutation_p.R83C NM_080651 NP_542382 Q96HR3 MED30_HUMAN TRAP/Mediator complex component TRAP25 83 Potential. androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding 0 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) GGATAATCTTCGCCAACTTTC 0.393000 MTBP 27085 broad.mit.edu 37 8 121463538 121463538 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:121463538G>A uc003ypc.1 + 4 446 c.401G>A c.(400-402)AGC>AAC p.S134N MTBP_uc003ypb.1_Missense_Mutation_p.S134N|MTBP_uc011lie.1_RNA NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 134 cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GACAGTAATAGCAGGGAATCA 0.299000 ATAD2 29028 broad.mit.edu 37 8 124361578 124361578 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:124361578G>A uc003yqh.3 - 14 1861 c.1753C>T c.(1753-1755)CGA>TGA p.R585* ATAD2_uc011lii.1_Nonsense_Mutation_p.R376*|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Nonsense_Mutation_p.R585*|MIR548D1_hsa-mir-548d-1|MI0003668_5'Flank NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CCAGGCCTTCGTAAAGCAGGA 0.413000 RNF139 11236 broad.mit.edu 37 8 125499067 125499067 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:125499067C>T uc003yrc.2 + 2 1520 c.1177C>T c.(1177-1179)CTG>TTG p.L393L NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 393 Helical; (Potential). negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TTTTCCTGTGCTGTTTGTCTC 0.398000 Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 ZNF572 137209 broad.mit.edu 37 8 125989004 125989004 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:125989004G>A uc003yrr.2 + 3 649 c.494G>A c.(493-495)TGT>TAT p.C165Y NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 165 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TGCTCTGAGTGTGCAAAATGT 0.423000 HNSCC(60;0.17) ADCY8 114 broad.mit.edu 37 8 131848643 131848643 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:131848643C>A uc003ytd.3 - 12 2811 c.2555G>T c.(2554-2556)CGG>CTG p.R852L ADCY8_uc010mds.2_Missense_Mutation_p.R721L NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 852 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGAGTTCAGCCGGAGGAAAAC 0.542000 HNSCC(32;0.087) DENND3 22898 broad.mit.edu 37 8 142186754 142186754 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:142186754C>T uc003yvy.2 + 15 2638 c.2360C>T c.(2359-2361)GCG>GTG p.A787V DENND3_uc010mep.2_Missense_Mutation_p.A748V NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 787 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) ATCAGAGTGGCGTCCAAGAAA 0.478000 CYP11B2 1585 broad.mit.edu 37 8 143995763 143995763 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:143995763C>T uc003yxk.1 - 5 874 c.871G>A c.(871-873)GCG>ACG p.A291T NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 291 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) AGGAGCTCCGCCACGATGCCT 0.572000 Familial_Hyperaldosteronism_type_I LY6E 4061 broad.mit.edu 37 8 144103156 144103156 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:144103156G>A uc003yxn.2 + 4 500 c.346G>A c.(346-348)GCC>ACC p.A116T LY6E_uc003yxm.2_Missense_Mutation_p.A116T|LY6E_uc003yxo.2_RNA NM_001127213 NP_001120685 Q16553 LY6E_HUMAN lymphocyte antigen 6 complex, locus E precursor 116 cell surface receptor linked signaling pathway anchored to membrane|integral to plasma membrane 0 all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CCTGCTGGGTGCCGGGCTGCT 0.672000 C8orf31 286122 broad.mit.edu 37 8 144126111 144126111 + Missense_Mutation SNP G G A rs137944456 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:144126111G>A uc003yxp.1 + 4 584 c.232G>A c.(232-234)GCT>ACT p.A78T C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA NM_173687 NP_775958 Q8N9H6 CH031_HUMAN hypothetical protein LOC286122 78 ovary(1) 1 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGCCAAAGACGCTCACTTTCT 0.617000 FAM83H 286077 broad.mit.edu 37 8 144810317 144810317 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:144810317G>A uc003yzk.2 - 5 1383 c.1314C>T c.(1312-1314)GGC>GGT p.G438G FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 438 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGAAGTCGTCGCCGTGGCTGA 0.706000 NRBP2 340371 broad.mit.edu 37 8 144919465 144919465 + Silent SNP C C T rs141817014 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:144919465C>T uc011lkt.1 - 13 1223 c.1083G>A c.(1081-1083)TCG>TCA p.S361S NRBP2_uc003yzv.2_Silent_p.S118S|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_Silent_p.S153S|NRBP2_uc010mfl.2_Silent_p.S153S|NRBP2_uc010mfm.2_Silent_p.S118S|NRBP2_uc011lks.1_Silent_p.S118S|NRBP2_uc003yzy.2_Silent_p.S118S NM_178564 NP_848659 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 361 negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2) 2 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGGAGACTTCCGAGTACCTGG 0.473000 PLEC 5339 broad.mit.edu 37 8 144993912 144993912 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:144993912G>A uc003zaf.1 - 32 10658 c.10488C>T c.(10486-10488)GGC>GGT p.G3496G PLEC_uc003zab.1_Silent_p.G3359G|PLEC_uc003zac.1_Silent_p.G3363G|PLEC_uc003zad.2_Silent_p.G3359G|PLEC_uc003zae.1_Silent_p.G3327G|PLEC_uc003zag.1_Silent_p.G3337G|PLEC_uc003zah.2_Silent_p.G3345G|PLEC_uc003zaj.2_Silent_p.G3386G NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3496 Plectin 12.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCAGGTAGATGCCGGCGAGGC 0.662000 PLEC 5339 broad.mit.edu 37 8 144996889 144996889 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:144996889G>A uc003zaf.1 - 31 7789 c.7619C>T c.(7618-7620)GCC>GTC p.A2540V PLEC_uc003zab.1_Missense_Mutation_p.A2403V|PLEC_uc003zac.1_Missense_Mutation_p.A2407V|PLEC_uc003zad.2_Missense_Mutation_p.A2403V|PLEC_uc003zae.1_Missense_Mutation_p.A2371V|PLEC_uc003zag.1_Missense_Mutation_p.A2381V|PLEC_uc003zah.2_Missense_Mutation_p.A2389V|PLEC_uc003zaj.2_Missense_Mutation_p.A2430V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2540 Central fibrous rod domain.|Potential. 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 GAAGCGCTGGGCGTCCTCCTC 0.687000 PLEC 5339 broad.mit.edu 37 8 145002109 145002109 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:145002109C>T uc003zaf.1 - 26 3893 c.3723G>A c.(3721-3723)GTG>GTA p.V1241V PLEC_uc003zab.1_Silent_p.V1104V|PLEC_uc003zac.1_Silent_p.V1108V|PLEC_uc003zad.2_Silent_p.V1104V|PLEC_uc003zae.1_Silent_p.V1072V|PLEC_uc003zag.1_Silent_p.V1082V|PLEC_uc003zah.2_Silent_p.V1090V|PLEC_uc003zaj.2_Silent_p.V1131V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1241 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 GGGCCCTGAGCACCTCCTCGG 0.677000 OPLAH 26873 broad.mit.edu 37 8 145113453 145113453 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:145113453G>A uc003zar.3 - 6 811 c.729C>T c.(727-729)CCC>CCT p.P243P OPLAH_uc003zat.1_Silent_p.P21P NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 243 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GCTGGATGGCGGGCGTGAGGT 0.687000 VPS28 51160 broad.mit.edu 37 8 145649444 145649444 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:145649444G>A uc003zcr.1 - 8 581 c.528C>T c.(526-528)GGC>GGT p.G176G VPS28_uc003zcs.1_Silent_p.G176G|VPS28_uc003zct.1_Silent_p.G176G NM_016208 NP_057292 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 isoform 1 176 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding 0 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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCGTCTGGCGGCCCTCAAAGT 0.697000 PPP1R16A 84988 broad.mit.edu 37 8 145726929 145726929 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:145726929G>A uc003zdd.2 + 11 2143 c.1230G>A c.(1228-1230)CCG>CCA p.P410P uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Silent_p.P410P|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank NM_032902 NP_116291 Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory (inhibitor) 410 plasma membrane protein binding 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGGTCAGGCCGCACAATGGCC 0.647000 LRRC24 441381 broad.mit.edu 37 8 145747941 145747941 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:145747941G>A uc003zdm.2 - 5 1592 c.1460C>T c.(1459-1461)GCG>GTG p.A487V LRRC24_uc003zdn.2_Missense_Mutation_p.A484V|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_5'Flank NM_001024678 NP_001019849 Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 precursor 487 integral to membrane 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GTCAGCGGGCGCCTCCGCCGG 0.726000 DMRT1 1761 broad.mit.edu 37 9 841907 841907 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:841907G>A uc003zgv.2 + 1 218 c.69G>A c.(67-69)CCG>CCA p.P23P DMRT1_uc003zgu.1_Silent_p.P23P NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 23 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) CCGGGGTACCGCCGCAGGGCA 0.716000 CD274 29126 broad.mit.edu 37 9 5457282 5457282 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:5457282C>T uc003zje.2 + 3 308 c.256C>T c.(256-258)CGG>TGG p.R86W C9orf46_uc003zjd.2_Intron|CD274_uc011lmb.1_Missense_Mutation_p.R86W|CD274_uc010mhn.2_RNA|CD274_uc003zjf.2_Intron NM_014143 NP_054862 Q9NZQ7 PD1L1_HUMAN CD274 molecule precursor 86 Extracellular (Potential).|Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation endomembrane system|integral to membrane receptor activity lung(1)|central_nervous_system(1) 2 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111) ACAGAGGGCCCGGCTGTTGAA 0.478000 T CIITA PMBL|Hodgkin Lymphona| TYRP1 7306 broad.mit.edu 37 9 12695537 12695537 + Silent SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:12695537A>G uc003zkv.3 + 3 586 c.408A>G c.(406-408)TTA>TTG p.L136L NM_000550 NP_000541 P17643 TYRP1_HUMAN tyrosinase-related protein 1 precursor 136 Lumenal, melanosome (Potential). melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity lung(1) 1 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) TTCTGGACTTAAGTAAAGAAG 0.423000 Oculocutaneous_Albinism BNC2 54796 broad.mit.edu 37 9 16435703 16435703 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:16435703G>T uc003zml.2 - 6 2629 c.2489C>A c.(2488-2490)CCA>CAA p.P830Q BNC2_uc011lmw.1_Missense_Mutation_p.P735Q|BNC2_uc003zmm.2_Missense_Mutation_p.P788Q|BNC2_uc003zmq.1_Missense_Mutation_p.P844Q|BNC2_uc003zmr.1_Missense_Mutation_p.P867Q|BNC2_uc003zmp.1_Missense_Mutation_p.P858Q|BNC2_uc010mij.1_Missense_Mutation_p.P752Q|BNC2_uc011lmv.1_Missense_Mutation_p.P656Q|BNC2_uc003zmo.1_Missense_Mutation_p.P752Q|BNC2_uc003zmj.2_Missense_Mutation_p.P595Q|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.P595Q|BNC2_uc003zmn.1_Missense_Mutation_p.P595Q NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 830 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) TTTGGGGTCTGGGCTAGAACA 0.488000 ZBTB5 9925 broad.mit.edu 37 9 37441517 37441517 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:37441517G>A uc003zzx.2 - 2 1232 c.1032C>T c.(1030-1032)AGC>AGT p.S344S NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) AGGTCACATCGCTCACTTCAT 0.537000 APBA1 320 broad.mit.edu 37 9 72082835 72082835 + Silent SNP G G A rs141287424 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:72082835G>A uc004ahh.2 - 5 1662 c.1386C>T c.(1384-1386)GCC>GCT p.A462A NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 462 PID. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GGTAATTGGCGGCAAAAATGA 0.552000 TRPM3 80036 broad.mit.edu 37 9 73152148 73152148 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:73152148C>T uc004aid.2 - 25 4089 c.3845G>A c.(3844-3846)CGC>CAC p.R1282H TRPM3_uc004ahu.2_Missense_Mutation_p.R1124H|TRPM3_uc004ahv.2_Missense_Mutation_p.R1084H|TRPM3_uc004ahw.2_Missense_Mutation_p.R1154H|TRPM3_uc004ahx.2_Missense_Mutation_p.R1141H|TRPM3_uc004ahy.2_Missense_Mutation_p.R1144H|TRPM3_uc004ahz.2_Missense_Mutation_p.R1131H|TRPM3_uc004aia.2_Missense_Mutation_p.R1129H|TRPM3_uc004aib.2_Missense_Mutation_p.R1119H|TRPM3_uc004aic.2_Missense_Mutation_p.R1282H NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1307 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GGTCCTCGAGCGGATTTTGTT 0.612000 C9orf85 138241 broad.mit.edu 37 9 74526748 74526748 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:74526748C>T uc004ain.2 + 1 326 c.98C>T c.(97-99)ACC>ATC p.T33I C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank NM_182505 NP_872311 Q96MD7 CI085_HUMAN hypothetical protein LOC138241 33 Lys-rich. 0 AGTGTGCAGACCAAGGTAGGA 0.527000 PRUNE2 158471 broad.mit.edu 37 9 79324975 79324975 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:79324975G>A uc010mpk.2 - 8 2339 c.2215C>T c.(2215-2217)CCG>TCG p.P739S NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 739 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TTCTGGAACGGCAAGCTTTCC 0.458000 PRUNE2 158471 broad.mit.edu 37 9 79469039 79469039 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:79469039T>C uc010mpk.2 - 2 246 c.122A>G c.(121-123)TAT>TGT p.Y41C PRUNE2_uc004akn.2_Missense_Mutation_p.Y41C NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 41 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AAAGTAAGCATATGTGAAGGT 0.343000 SHC3 53358 broad.mit.edu 37 9 91656996 91656996 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:91656996C>A uc004aqg.2 - 10 1612 c.1305G>T c.(1303-1305)TGG>TGT p.W435C NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 435 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 CCGCAGCCGGCCAGGCCTGTG 0.562000 SECISBP2 79048 broad.mit.edu 37 9 91964783 91964783 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:91964783G>A uc004aqj.1 + 13 1911 c.1831G>A c.(1831-1833)GCC>ACC p.A611T SECISBP2_uc011ltk.1_Missense_Mutation_p.A610T|SECISBP2_uc004aqk.1_Missense_Mutation_p.A538T|SECISBP2_uc010mqo.1_Missense_Mutation_p.A316T|SECISBP2_uc011ltl.1_Missense_Mutation_p.A543T NM_024077 NP_076982 Q96T21 SEBP2_HUMAN SECIS binding protein 2 611 translation nucleus mRNA 3'-UTR binding ovary(2)|skin(1) 3 GGACACAGAGGCCTCCCACCT 0.592000 FGD3 89846 broad.mit.edu 37 9 95738953 95738953 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:95738953A>G uc004asw.2 + 3 1043 c.415A>G c.(415-417)ACC>GCC p.T139A FGD3_uc004asx.2_Missense_Mutation_p.T139A|FGD3_uc004asz.2_Missense_Mutation_p.T139A NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 139 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 CTCTGAGAACACCCCCCAGAA 0.667000 ZNF169 169841 broad.mit.edu 37 9 97063569 97063569 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:97063569C>T uc004aum.1 + 5 1834 c.1729C>T c.(1729-1731)CGT>TGT p.R577C NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 577 C2H2-type 13; degenerate. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) GGAGTGTGGGCGTGGCTTTAG 0.557000 PTCH1 5727 broad.mit.edu 37 9 98209385 98209385 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:98209385G>A uc004avk.3 - 23 4341 c.4153C>T c.(4153-4155)CCT>TCT p.P1385S PTCH1_uc010mrn.2_Missense_Mutation_p.P177S|PTCH1_uc010mro.2_Missense_Mutation_p.P1234S|PTCH1_uc010mrp.2_Missense_Mutation_p.P1234S|PTCH1_uc010mrq.2_Missense_Mutation_p.P1234S|PTCH1_uc004avl.3_Missense_Mutation_p.P1234S|PTCH1_uc010mrr.2_Missense_Mutation_p.P1319S|PTCH1_uc004avm.3_Missense_Mutation_p.P1384S NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 1385 Cytoplasmic (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCAGGGACAGGCGGCGGGTGC 0.692000 Basal_Cell_Nevus_syndrome TRIM14 9830 broad.mit.edu 37 9 100857274 100857274 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:100857274A>G uc004ayd.2 - 4 593 c.575T>C c.(574-576)ATG>ACG p.M192T TRIM14_uc004ayf.1_Missense_Mutation_p.M99T|TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.M192T|TRIM14_uc004ayh.1_Missense_Mutation_p.M192T|TRIM14_uc004ayi.1_Missense_Mutation_p.M192T|TRIM14_uc004ayj.1_Missense_Mutation_p.M99T NM_033220 NP_150089 Q14142 TRI14_HUMAN tripartite motif protein TRIM14 isoform alpha 192 cytoplasm|intracellular zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.0559) CCCGAGGCTCATCTGCTGCTG 0.622000 COL15A1 1306 broad.mit.edu 37 9 101829281 101829281 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:101829281C>A uc004azb.1 + 40 3975 c.3769C>A c.(3769-3771)CAT>AAT p.H1257N NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1257 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CTTATCTTCCCATTTGCAAGA 0.463000 TEX10 54881 broad.mit.edu 37 9 103090122 103090122 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:103090122C>T uc004bas.2 - 8 1963 c.1748G>A c.(1747-1749)CGA>CAA p.R583Q TEX10_uc011lvf.1_Missense_Mutation_p.R422Q|TEX10_uc011lvg.1_Missense_Mutation_p.R586Q NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 583 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TTTATTTGCTCGTGCTGCAGC 0.433000 GRIN3A 116443 broad.mit.edu 37 9 104335629 104335629 + Missense_Mutation SNP G G A rs145862529 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:104335629G>A uc004bbp.1 - 9 3776 c.3175C>T c.(3175-3177)CGG>TGG p.R1059W GRIN3A_uc004bbo.1_Missense_Mutation_p.R134W NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 1059 Cytoplasmic (Potential).|Potential. response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TTGGTGGTCCGCAAGGCAGGG 0.527000 GRIN3A 116443 broad.mit.edu 37 9 104499831 104499831 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:104499831T>C uc004bbp.1 - 1 1032 c.431A>G c.(430-432)TAC>TGC p.Y144C GRIN3A_uc004bbq.1_Missense_Mutation_p.Y144C NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 144 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGACAGGTTGTAGGGTAGCAG 0.637000 OR13C5 138799 broad.mit.edu 37 9 107360934 107360934 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:107360934G>A uc011lvp.1 - 1 761 c.761C>T c.(760-762)ACC>ATC p.T254I NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 GAGGAAGATGGTCCCACAGAA 0.433000 ZNF462 58499 broad.mit.edu 37 9 109689449 109689449 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:109689449G>T uc004bcz.2 + 3 3545 c.3256G>T c.(3256-3258)GGT>TGT p.G1086C ZNF462_uc010mto.2_Missense_Mutation_p.G934C|ZNF462_uc004bda.2_Missense_Mutation_p.G934C NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1086 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 ATTTGAGGTGGGTGCTCCAAT 0.517000 SVEP1 79987 broad.mit.edu 37 9 113242031 113242031 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:113242031G>T uc010mtz.2 - 13 2708 c.2371C>A c.(2371-2373)CGT>AGT p.R791S SVEP1_uc010mua.1_Missense_Mutation_p.R791S|SVEP1_uc004beu.2_Missense_Mutation_p.R791S NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 791 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TTTGCAAAACGTTTTTCTAGA 0.338000 SLC46A2 57864 broad.mit.edu 37 9 115642093 115642093 + Silent SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:115642093C>A uc004bgk.2 - 4 1609 c.1377G>T c.(1375-1377)GTG>GTT p.V459V NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 459 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 GTTTATAGGCCACGATGCTGT 0.368000 TNC 3371 broad.mit.edu 37 9 117849317 117849317 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:117849317G>A uc004bjj.3 - 3 1055 c.693C>T c.(691-693)TGC>TGT p.C231C TNC_uc010mvf.2_Silent_p.C231C NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 231 EGF-like 3. 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 CTCCATTTACGCACTTGCCCT 0.612000 DBC1 1620 broad.mit.edu 37 9 121971175 121971175 + Missense_Mutation SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:121971175G>T uc004bkc.2 - 7 1423 c.967C>A c.(967-969)CTG>ATG p.L323M NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 323 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 CCGATGGTCAGGAAGTGGTTG 0.507000 CEP110 11064 broad.mit.edu 37 9 123860802 123860802 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:123860802C>T uc004bkx.1 + 5 791 c.760C>T c.(760-762)CCA>TCA p.P254S CEP110_uc004bkw.2_Missense_Mutation_p.P254S NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 254 LRRCT. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 GGAAGGTCAGCCAGTAACCAC 0.378000 RABGAP1 23637 broad.mit.edu 37 9 125836582 125836582 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:125836582T>C uc011lzh.1 + 17 2262 c.2128T>C c.(2128-2130)TAC>CAC p.Y710H RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_Missense_Mutation_p.Y49H NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 710 Rab-GAP TBC. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 TCCTGACCTGTACAACCACTT 0.428000 DENND1A 57706 broad.mit.edu 37 9 126202750 126202750 + Silent SNP G G A rs141991289 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:126202750G>A uc004bnz.1 - 19 1610 c.1377C>T c.(1375-1377)TGC>TGT p.C459C DENND1A_uc011lzl.1_Silent_p.C234C|DENND1A_uc004bny.1_Silent_p.C198C|DENND1A_uc011lzm.1_Silent_p.C427C|DENND1A_uc004boa.1_Silent_p.C459C|DENND1A_uc004bob.1_Silent_p.C429C|DENND1A_uc004boc.2_Silent_p.C427C|DENND1A_uc010mwh.1_5'UTR NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 459 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 GGGTGGGGGCGCAGCCATTCT 0.622000 NEK6 10783 broad.mit.edu 37 9 127101923 127101923 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:127101923C>T uc004bog.2 + 8 845 c.696C>T c.(694-696)TCC>TCT p.S232S NEK6_uc004bof.2_Silent_p.S250S|NEK6_uc004boh.2_Silent_p.S266S|NEK6_uc010mwj.2_Silent_p.S185S|NEK6_uc010mwk.2_Silent_p.S232S|NEK6_uc004boi.2_Silent_p.S232S NM_014397 NP_055212 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 isoform 2 232 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|kidney(1) 3 ACATCTGGTCCCTGGGCTGTC 0.602000 RABEPK 10244 broad.mit.edu 37 9 127982924 127982924 + Silent SNP C C T rs1045383 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:127982924C>T uc004bpi.2 + 6 644 c.471C>T c.(469-471)GGC>GGT p.G157G RABEPK_uc004bph.1_3'UTR|RABEPK_uc004bpj.2_Silent_p.G106G|RABEPK_uc004bpk.2_Silent_p.G157G|RABEPK_uc004bpl.1_Silent_p.G106G|RABEPK_uc004bpm.2_Silent_p.G157G NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 157 Kelch 3. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 TCTTTGGGGGCGGAGAGAGAG 0.597000 GOLGA2 2801 broad.mit.edu 37 9 131028142 131028142 + Missense_Mutation SNP C C A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:131028142C>A uc011maw.1 - 10 683 c.670G>T c.(670-672)GGG>TGG p.G224W GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_Missense_Mutation_p.G125W|GOLGA2_uc004bum.1_Missense_Mutation_p.G98W NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 224 Potential. Golgi cisterna membrane protein binding ovary(1) 1 ACGAGGATCCCTATGGTCTGA 0.512000 SPTAN1 6709 broad.mit.edu 37 9 131395598 131395598 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:131395598G>A uc004bvl.3 + 56 7517 c.7404G>A c.(7402-7404)TCG>TCA p.S2468S SPTAN1_uc004bvm.3_Silent_p.S2473S|SPTAN1_uc004bvn.3_Silent_p.S2448S|SPTAN1_uc004bvo.3_Silent_p.S235S|SPTAN1_uc004bvp.3_Silent_p.S211S NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2468 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TCACCCGCTCGCTTTTCGTGA 0.632000 PKN3 29941 broad.mit.edu 37 9 131476529 131476529 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:131476529C>T uc004bvw.2 + 11 1759 c.1366C>T c.(1366-1368)CGC>TGC p.R456C PKN3_uc010myh.2_Missense_Mutation_p.R456C|PKN3_uc011mbk.1_Missense_Mutation_p.R6C NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN protein kinase PKNbeta 456 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity stomach(2)|lung(2) 4 GGCCTGGGGGCGCCTCGTCAT 0.662000 FAM73B 84895 broad.mit.edu 37 9 131825895 131825895 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:131825895G>A uc004bxa.2 + 11 1341 c.1155G>A c.(1153-1155)ATG>ATA p.M385I FAM73B_uc004bwy.2_RNA|FAM73B_uc004bwz.2_Intron|FAM73B_uc011mbn.1_Missense_Mutation_p.M385I NM_032809 NP_116198 Q7L4E1 FA73B_HUMAN hypothetical protein LOC84895 385 integral to membrane skin(1) 1 CAGGCCTGATGACCAAGGCTG 0.582000 RAPGEF1 2889 broad.mit.edu 37 9 134501510 134501510 + Nonsense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:134501510G>A uc004cbc.2 - 10 1580 c.1450C>T c.(1450-1452)CAG>TAG p.Q484* RAPGEF1_uc004cbb.2_Nonsense_Mutation_p.Q502*|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Nonsense_Mutation_p.Q489*|RAPGEF1_uc004cbd.2_Nonsense_Mutation_p.Q489* NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 484 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TTGTCATACTGCGAGGGATGC 0.637000 TTF1 7270 broad.mit.edu 37 9 135277575 135277575 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:135277575C>T uc004cbl.2 - 2 686 c.634G>A c.(634-636)GCA>ACA p.A212T TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 212 N-terminal region (NRD) (By similarity). negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TGAGCAGATGCTGGTAGTTCT 0.512000 SLC2A6 11182 broad.mit.edu 37 9 136340541 136340541 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:136340541T>G uc004cee.2 - 5 850 c.755A>C c.(754-756)CAG>CCG p.Q252P SLC2A6_uc004cef.2_Missense_Mutation_p.Q252P|SLC2A6_uc004ceg.2_Missense_Mutation_p.Q229P|SLC2A6_uc011mdj.1_3'UTR NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose 252 Cytoplasmic (Potential). integral to membrane|plasma membrane D-glucose transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GACGTTGTCCTGGATCTGCTC 0.672000 FCN2 2220 broad.mit.edu 37 9 137778363 137778363 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:137778363C>T uc004cfg.1 + 7 657 c.647C>T c.(646-648)GCG>GTG p.A216V FCN2_uc004cfh.1_Missense_Mutation_p.A178V NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 216 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GCCGACGAGGCGGAGAAGTAC 0.572000 KCNT1 57582 broad.mit.edu 37 9 138651678 138651678 + Silent SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:138651678C>T uc011mdq.1 + 11 1082 c.1008C>T c.(1006-1008)TGC>TGT p.C336C KCNT1_uc011mdr.1_Silent_p.C163C|KCNT1_uc010nbf.2_Silent_p.C291C|KCNT1_uc004cgo.1_Silent_p.C85C NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 336 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TCATGATCTGCGTGGCCCTCG 0.642000 SNAPC4 6621 broad.mit.edu 37 9 139272627 139272628 + Missense_Mutation DNP GC GC CT TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:139272627_139272628GC>CT uc004chh.2 - 21 3660_3661 c.3651_3652GC>AG c.(3649-3654)GAGCCA>GAAGCA p.P1218A NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 1218 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GTCCCCCTTGGCTCAGTTGCTG 0.698000 FAM69B 138311 broad.mit.edu 37 9 139617657 139617657 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:139617657G>A uc004cik.2 + 5 821 c.727G>A c.(727-729)GCC>ACC p.A243T FAM69B_uc004cil.2_Missense_Mutation_p.A156T|SNHG7_uc004cim.2_Intron NM_152421 NP_689634 Q5VUD6 FA69B_HUMAN hypothetical protein LOC138311 243 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) GCACGCGGCCGCCCTTCCACC 0.706000 ASMTL 8623 broad.mit.edu 37 X 1536899 1536899 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:1536899C>T uc004cpx.1 - 11 1600 c.1489G>A c.(1489-1491)GGA>AGA p.G497R ASMTL_uc011mhe.1_Missense_Mutation_p.G421R|ASMTL_uc004cpy.1_Missense_Mutation_p.G481R|ASMTL_uc011mhf.1_Missense_Mutation_p.G439R NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 497 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCCTGCGGTCCGGGGGGTTGG 0.597000 ACOT9 23597 broad.mit.edu 37 X 23740851 23740851 + Silent SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:23740851G>A uc004dap.2 - 6 539 c.393C>T c.(391-393)CAC>CAT p.H131H ACOT9_uc004dao.2_Silent_p.H140H|ACOT9_uc004daq.2_Silent_p.H89H|ACOT9_uc004dar.2_Silent_p.H71H|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.H71H|ACOT9_uc004dat.1_Silent_p.H131H NM_001033583 NP_001028755 Q9Y305 ACOT9_HUMAN acyl-Coenzyme A thioesterase 2, mitochondrial 131 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity ovary(2)|pancreas(1) 3 GGATTTTGTTGTGCATGTAAC 0.368000 NDUFB11 54539 broad.mit.edu 37 X 47001792 47001792 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:47001792C>T uc004dhd.2 - 3 917 c.386G>A c.(385-387)CGA>CAA p.R129Q NDUFB11_uc004dhc.2_Missense_Mutation_p.R139Q|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank NM_001135998 NP_001129470 Q9NX14 NDUBB_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 129 respiratory electron transport chain|transport integral to membrane|mitochondrial respiratory chain complex I 0 ATTGGCCTCTCGGTATTTCAC 0.542000 WAS 7454 broad.mit.edu 37 X 48544502 48544502 + Missense_Mutation SNP C C T rs145040665 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:48544502C>T uc004dkm.3 + 6 595 c.538C>T c.(538-540)CAT>TAT p.H180Y NM_000377 NP_000368 P42768 WASP_HUMAN Wiskott-Aldrich syndrome protein 180 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity ovary(1) 1 all_lung(315;1.27e-10) CCTGCCCCTGCATCCAGGTGG 0.423000 Mis|N|F|S lymphoma Wiskott-Aldrich_syndrome ALAS2 212 broad.mit.edu 37 X 55040074 55040074 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:55040074T>G uc004dua.3 - 10 1583 c.1445A>C c.(1444-1446)AAT>ACT p.N482T ALAS2_uc004dub.3_Missense_Mutation_p.N469T|ALAS2_uc004dud.3_Missense_Mutation_p.N445T NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 482 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) GAGTGCTGCATTGCCCACCTG 0.542000 OPHN1 4983 broad.mit.edu 37 X 67273626 67273626 + Missense_Mutation SNP G G A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:67273626G>A uc004dww.3 - 22 2479 c.2185C>T c.(2185-2187)CGG>TGG p.R729W OPHN1_uc011mpg.1_Missense_Mutation_p.R621W NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 729 Pro-rich. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 CCTGGAGGCCGCACTTTGCTG 0.547000 SLC7A3 84889 broad.mit.edu 37 X 70147375 70147375 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:70147375C>T uc004dyn.2 - 7 1300 c.1142G>A c.(1141-1143)CGC>CAC p.R381H SLC7A3_uc004dyo.2_Missense_Mutation_p.R381H NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 381 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GATTGGGGTGCGTGTGCCGGT 0.557000 PHKA1 5255 broad.mit.edu 37 X 71801013 71801013 + Missense_Mutation SNP C C T rs144813238 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:71801013C>T uc004eax.3 - 32 3812 c.3511G>A c.(3511-3513)GCA>ACA p.A1171T PHKA1_uc004eay.3_Missense_Mutation_p.A1158T|PHKA1_uc011mqi.1_Missense_Mutation_p.A1099T|PHKA1_uc010nll.2_Missense_Mutation_p.A203T NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 1171 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) GTATCATCTGCGCCAAGGGTT 0.438000 NXF2B 728343 broad.mit.edu 37 X 101623733 101623733 + Missense_Mutation SNP T T G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:101623733T>G uc004ejb.3 - 19 2501 c.629A>C c.(628-630)AAG>ACG p.K210T NXF2B_uc004eiz.3_Missense_Mutation_p.K122T|NXF2B_uc004eja.3_Missense_Mutation_p.K210T|NXF2_uc004eiy.3_Missense_Mutation_p.K210T NM_001099686 NP_001093156 Q9GZY0 NXF2_HUMAN nuclear RNA export factor 2B 210 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|RNA binding ovary(1) 1 TTGGCCTGGCTTCAACTTATT 0.478000 GPRASP1 9737 broad.mit.edu 37 X 101909850 101909850 + Nonsense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:101909850C>T uc004ejj.3 + 5 1810 c.1009C>T c.(1009-1011)CGA>TGA p.R337* GPRASP1_uc004eji.3_Nonsense_Mutation_p.R337*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.R337* NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 337 cytoplasm protein binding ovary(1)|lung(1) 2 CAGGGCCAAGCGAGAAGCTTG 0.478000 RGAG1 57529 broad.mit.edu 37 X 109695155 109695155 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:109695155T>C uc004eor.1 + 3 1556 c.1310T>C c.(1309-1311)ATG>ACG p.M437T RGAG1_uc011msr.1_Missense_Mutation_p.M437T NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 437 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TCTGGAGCCATGACCACCTCA 0.507000 UPF3B 65109 broad.mit.edu 37 X 118971950 118971950 + Missense_Mutation SNP G G A rs139646537 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:118971950G>A uc004erz.1 - 10 1149 c.1072C>T c.(1072-1074)CGC>TGC p.R358C UPF3B_uc004esa.1_Missense_Mutation_p.R345C NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 358 Sufficient for association with EJC core. R -> H (in Ref. 4; AAI21018). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 CGAAGTATGCGCTCCTGATCT 0.473000 STAG2 10735 broad.mit.edu 37 X 123196991 123196991 + Missense_Mutation SNP C C G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:123196991C>G uc004etz.3 + 18 2096 c.1757C>G c.(1756-1758)ACT>AGT p.T586S STAG2_uc004eua.2_Missense_Mutation_p.T586S|STAG2_uc004eub.2_Missense_Mutation_p.T586S|STAG2_uc004euc.2_Missense_Mutation_p.T586S|STAG2_uc004eud.2_Missense_Mutation_p.T586S|STAG2_uc004eue.2_Missense_Mutation_p.T586S NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 586 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GAAAAGGTGACTAACTTGTTG 0.308000 ODZ1 10178 broad.mit.edu 37 X 123680890 123680890 + Missense_Mutation SNP A A T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:123680890A>T uc004euj.2 - 15 2549 c.2485T>A c.(2485-2487)TAT>AAT p.Y829N ODZ1_uc011muj.1_Missense_Mutation_p.Y828N|ODZ1_uc010nqy.2_Missense_Mutation_p.Y829N NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 829 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GGACTTATATAACAGTTGCTT 0.403000 XPNPEP2 7512 broad.mit.edu 37 X 128873107 128873107 + Translation_Start_Site SNP G G T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:128873107G>T uc004eut.1 + 1 162 c.-82G>T c.(-84--80)AAGGC>AATGC XPNPEP2_uc011mum.1_Translation_Start_Site NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 GCCCAGGAAAGGCCTGAAGGA 0.637000 ELF4 2000 broad.mit.edu 37 X 129201300 129201300 + Missense_Mutation SNP A A G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:129201300A>G uc004evd.3 - 9 1773 c.1388T>C c.(1387-1389)TTC>TCC p.F463S ELF4_uc004eve.3_Missense_Mutation_p.F463S NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 463 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GTTCAGGGGGAAAGAGGCCTG 0.602000 T ERG AML G6PD 2539 broad.mit.edu 37 X 153762671 153762671 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:153762671C>T uc004fly.1 - 6 639 c.526G>A c.(526-528)GAC>AAC p.D176N G6PD_uc004flx.1_Missense_Mutation_p.D206N NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 176 D -> G (in Shinshu; class I). cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 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) CTCTGCAGGTCCCTCCCGAAG 0.617000 IKBKG 8517 broad.mit.edu 37 X 153770626 153770626 + Missense_Mutation SNP C C T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:153770626C>T uc011mzr.1 + 1 168 c.148C>T c.(148-150)CGC>TGC p.R50C G6PD_uc004flx.1_Intron|G6PD_uc004fly.1_Intron NM_001099856 NP_001093326 Q9Y6K9 NEMO_HUMAN inhibitor of kappa light polypeptide gene Error:Variant_position_missing_in_Q9Y6K9_after_alignment activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|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, DNA-dependent cytosol|nucleus metal ion binding|protein domain specific binding|signal transducer activity 0 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) CTGTTCCAGGCGCACACTAGT 0.572000 Incontinentia_Pigmenti_type_2 UTY 7404 broad.mit.edu 37 Y 15522892 15522892 + Missense_Mutation SNP T T C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrY:15522892T>C uc004fsx.1 - 6 1541 c.536A>G c.(535-537)GAC>GGC p.D179G UTY_uc004fsy.2_Missense_Mutation_p.D179G|UTY_uc004fsz.2_Missense_Mutation_p.D179G NM_007125 NP_009056 O14607 UTY_HUMAN tetratricopeptide repeat protein isoform 3 179 TPR 3. chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGACTTGTAGTCTGTGTTCAC 0.408000 RNASEL 6041 broad.mit.edu 37 1 182545526 182545527 + Splice_Site INS - - AA TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:182545526_182545527insAA uc001gpj.1 - 5 2073 c.1906_splice c.e5-1 p.I636_splice RNASEL_uc009wxz.1_Splice_Site_p.I636_splice NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TTCATTAATCTAAAAAAACAAA 0.267 Hereditary_Prostate_Cancer CDH16 1014 broad.mit.edu 37 16 66947518 66947519 + Splice_Site INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:66947518_66947519insG uc002eql.2 - 8 854 c.781_splice c.e8-1 p.V261_splice CDH16_uc010cdy.2_Splice_Site_p.V261_splice|CDH16_uc002eqm.2_Splice_Site_p.V164_splice NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 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) CCAGTGTACCTGGGGGGGACAC 0.594 SCUBE1 80274 broad.mit.edu 37 22 43634962 43634963 + Splice_Site INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:43634962_43634963insG uc003bdt.1 - 7 816 c.728_splice c.e7-1 p.E243_splice SCUBE1_uc003bdu.1_Intron NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 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) CGCACGTCTCTGGGGAGGGAAA 0.485 USP34 9736 broad.mit.edu 37 2 61577527 61577527 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:61577526_61577526TA>T uc002sbe.3 - 12 1400 c.1378_splice c.e12-1 p.T460_splice NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 460 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GTACAGTGTCTAAAAAAAAGA 0.338 ANAPC1 64682 broad.mit.edu 37 2 112614258 112614259 + Splice_Site INS - - T rs4067742 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:112614257_112614258C>CT uc002thi.3 - 13 1697 c.1450_splice c.e13-1 p.K484_splice NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 484 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TGTCTATTTTCTAAAAAAACAA 0.361 MGAT5 4249 broad.mit.edu 37 2 135028124 135028124 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:135028123_135028123TA>T uc002ttw.4 + 2 551 c.406_splice c.e2+2 p.D136_splice NM_002410 NP_002401 Q09328 MGT5A_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA. 136 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) ATGTGGCAGGTAAAAATAGCA 0.443 CLASP2 23122 broad.mit.edu 37 3 33552259 33552259 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:33552258_33552258TA>T uc021wvc.1 - 37 4346 c.4135_splice c.e37-1 p.V1379_splice CLASP2_uc003cfs.3_Splice_Site_p.V578_splice|CLASP2_uc021wva.1_Splice_Site_p.V453_splice|CLASP2_uc021wvb.1_Splice_Site_p.V1158_splice NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA. 1380 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCTCACCACCTAAAAAAAATA 0.353 GPR128 84873 broad.mit.edu 37 3 100354673 100354673 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:100354672_100354672TA>T uc003duc.3 + 5 865 c.597_splice c.e5+2 p.E199_splice GPR128_uc011bhc.2_Splice_Site NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 199 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.?(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TCACCTGAGGTAAAACTCACA 0.368 IPO11 51194 broad.mit.edu 37 5 61770245 61770245 + Splice_Site DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:61770244_61770244GT>G uc011cqr.2 + 8 959 c.829_splice c.e8-1 p.G277_splice IPO11_uc003jtc.3_Splice_Site_p.G237_splice NM_001134779 NP_057422 Q9UI26 IPO11_HUMAN Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA. 237 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) CTTTTCTAGGGTTTTTTACAT 0.274 FREM1 158326 broad.mit.edu 37 9 14769869 14769869 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:14769868_14769868TA>T uc003zlm.3 - 28 5876 c.5060_splice c.e28-1 p.G1687_splice FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Splice_Site|FREM1_uc003zll.3_Splice_Site_p.G223_splice NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1687 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TAAATTCACCTAAAAAAAGAA 0.264 DIP2C 22982 broad.mit.edu 37 10 395273 395273 + Splice_Site DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:395272_395272TG>T uc001ifp.3 - 25 3199 c.3109_splice c.e25+1 p.G1037_splice DIP2C_uc009xhi.1_Splice_Site_p.G423_splice NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 1037 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CGCCTGTACCTGGGGGGTAGA 0.667 NAP1L4 4676 broad.mit.edu 37 11 2991167 2991167 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:2991166_2991166TA>T uc010qxm.2 - 8 687 c.403_splice c.e8-1 p.G135_splice NAP1L4_uc001lxc.3_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.2_Splice_Site_p.G135_splice NM_005969 NP_005960 Q99733 NP1L4_HUMAN Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA. 135 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) CATGTCTCCCTAAAAAAAAGA 0.418 SF3B2 10992 broad.mit.edu 37 11 65836146 65836146 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:65836145_65836145CA>C uc001ogy.1 + 22 2657 c.2617_splice c.e22-1 p.Q873_splice PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank NM_006842 NP_006833 Q13435 SF3B2_HUMAN Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA. 873 interspecies interaction between organisms U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 CCCTATACAGCAAAAAAAACG 0.512 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CDH16 1014 broad.mit.edu 37 16 66947519 66947520 + Splice_Site INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:66947518_66947519T>TG uc002eql.3 - 8 975 c.781_splice c.e8-1 p.V261_splice CDH16_uc010cdy.3_Splice_Site_p.V261_splice|CDH16_uc021tjx.1_Splice_Site_p.V261_splice|CDH16_uc002eqm.3_Splice_Site_p.V164_splice NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 261 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCAGTGTACCTGGGGGGGACAC 0.594 ABCA5 23461 broad.mit.edu 37 17 67261049 67261049 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:67261048_67261048TA>T uc002jif.2 - 23 4363 c.3145_splice c.e23-1 p.I1049_splice ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice NM_018672 NP_758424 Q8WWZ7 ABCA5_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA. 1049 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 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) AGCTTTGATCTAAAAAAAATG 0.259 SCUBE1 80274 broad.mit.edu 37 22 43634963 43634964 + Splice_Site INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:43634962_43634963T>TG uc003bdt.2 - 7 855 c.728_splice c.e7-1 p.E243_splice SCUBE1_uc003bdu.2_Intron NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 243 EGF-like 6 (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 autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CGCACGTCTCTGGGGAGGGAAA 0.589 KIFAP3 22920 broad.mit.edu 37 1 170024447 170024447 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:170024447delT uc001ggv.2 - 2 434 c.163delA c.(163-165)ATCfs p.I55fs KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Intron NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 55 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGAACTTACATTTTTTGACAT 0.333 RNASEL 6041 broad.mit.edu 37 1 182545526 182545527 + Splice_Site INS - - AA TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:182545526_182545527insAA uc001gpj.1 - 5 2073 c.1906_splice c.e5-1 p.I636_splice RNASEL_uc009wxz.1_Splice_Site_p.I636_splice NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TTCATTAATCTAAAAAAACAAA 0.267 Hereditary_Prostate_Cancer LEMD1 93273 broad.mit.edu 37 1 205388453 205388453 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:205388453delT uc001hcj.1 - 3 212 c.110delA c.(109-111)AAGfs p.K37fs LEMD1_uc001hci.1_Frame_Shift_Del_p.K37fs|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron Q68G75 LEMD1_HUMAN RecName: Full=LEM domain-containing protein 1; Short=LEMP-1; AltName: Full=Cancer/testis antigen 50; Short=CT50; 37 LEM. integral to membrane|nuclear envelope 0 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) CTGTACTAACTTTTTTTCATA 0.433 OR2W5 441932 broad.mit.edu 37 1 247654684 247654684 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:247654684delG uc001icz.1 + 1 255 c.255delG c.(253-255)CTGfs p.L85fs NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGTGGAACCTGGGGGGTCCAG 0.532 ZNF248 57209 broad.mit.edu 37 10 38121593 38121593 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:38121593delA uc001izd.1 - 6 1189 c.690delT c.(688-690)TTTfs p.F230fs ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Frame_Shift_Del_p.F230fs NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTTATTTGTAAAAAATGCTG 0.363 CC2D2B 387707 broad.mit.edu 37 10 97779061 97779061 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:97779061delA uc001kll.2 + 7 823 c.624delA c.(622-624)TTAfs p.L208fs uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Frame_Shift_Del_p.L208fs|uc009xvb.1_RNA NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 208 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) TTTGTCCCTTAAAAAGTGTAG 0.313 SLC18A2 6571 broad.mit.edu 37 10 119014792 119014792 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:119014792delC uc001ldd.1 + 7 736 c.705delC c.(703-705)GGCfs p.G235fs SLC18A2_uc009xyy.1_Frame_Shift_Del_p.G32fs NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 235 Helical; (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CTGCAGTGGGCCCCCCCTTCG 0.572 TUBGCP2 10844 broad.mit.edu 37 10 135093332 135093332 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:135093332delG uc001lmg.1 - 18 3004 c.2647delC c.(2647-2649)CAAfs p.Q883fs ADAM8_uc010quz.1_5'Flank|ADAM8_uc009ybi.2_5'Flank|ADAM8_uc010qva.1_5'Flank|ADAM8_uc009ybj.1_5'Flank|TUBGCP2_uc001lmf.1_Frame_Shift_Del_p.Q476fs|TUBGCP2_uc010qvc.1_Frame_Shift_Del_p.Q911fs|TUBGCP2_uc009ybk.1_Frame_Shift_Del_p.Q906fs|TUBGCP2_uc010qvd.1_Frame_Shift_Del_p.Q753fs|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 883 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) ACAGGCACTTGGGGGGTGGCC 0.657 PDGFD 80310 broad.mit.edu 37 11 103814312 103814312 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:103814312delT uc001phq.2 - 5 1012 c.640delA c.(640-642)ATTfs p.I214fs PDGFD_uc001php.2_Frame_Shift_Del_p.I208fs NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 214 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) AATTCTGCAATTTTTTTGTCC 0.438 DENND5B 160518 broad.mit.edu 37 12 31604972 31604973 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:31604972_31604973insA uc001rki.1 - 5 1716_1717 c.1530_1531insT c.(1528-1533)TTTACAfs p.F510fs DENND5B_uc001rkh.1_Frame_Shift_Ins_p.F545fs|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Frame_Shift_Ins_p.F532fs|DENND5B_uc001rkk.1_Frame_Shift_Ins_p.F432fs NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 510_511 dDENN. integral to membrane ovary(1)|central_nervous_system(1) 2 AACATCTGTGTAAAACGGTTAG 0.450 WDR66 144406 broad.mit.edu 37 12 122386901 122386901 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:122386901delT uc009zxk.2 + 8 1345 c.1203delT c.(1201-1203)ACTfs p.T401fs NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 401 WD 3. calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) ACTACGTTACTTTTAACCCAA 0.239 ARL6IP4 51329 broad.mit.edu 37 12 123464969 123464970 + Frame_Shift_Del DEL GC GC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:123464969_123464970delGC uc001ued.2 + 1 90_91 c.35_36delGC c.(34-36)GGCfs p.G12fs ARL6IP4_uc001uec.2_Frame_Shift_Del_p.G12fs|ARL6IP4_uc001uee.2_Frame_Shift_Del_p.G12fs|ARL6IP4_uc001uef.2_Frame_Shift_Del_p.G12fs|ARL6IP4_uc001ueg.2_RNA|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank NM_018694 NP_061164 Q66PJ3 AR6P4_HUMAN SRp25 nuclear protein isoform 1 12 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) GAGGAGGGCGGCGCGCGCGAGG 0.713 NOC4L 79050 broad.mit.edu 37 12 132632428 132632428 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:132632428delC uc001ujz.1 + 6 648 c.607delC c.(607-609)CCCfs p.P203fs NM_024078 NP_076983 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog 203 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) TCCGCAGGTGCCCCCCGCCTT 0.682 ZC3H13 23091 broad.mit.edu 37 13 46543661 46543661 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:46543661delT uc010tfw.1 - 13 3024 c.3018delA c.(3016-3018)AAAfs p.K1006fs ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.K1006fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.K1006fs NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1006 Lys-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATTTTTTACGTTTTTTTTCAA 0.373 SLITRK1 114798 broad.mit.edu 37 13 84455642 84455642 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:84455642delT uc001vlk.2 - 1 887 c.1delA c.(1-3)ATGfs p.M1fs NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 1 integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CAAAGCAGCATTTTTAAAGCG 0.458 C14orf43 91748 broad.mit.edu 37 14 74205773 74205773 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:74205773delG uc001xot.2 - 2 1722 c.939delC c.(937-939)CCCfs p.P313fs C14orf43_uc001xou.2_Frame_Shift_Del_p.P313fs|C14orf43_uc010tud.1_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 313 Pro-rich. 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) TATCTGGGTTGGGGGGGAAGG 0.662 KIAA1409 57578 broad.mit.edu 37 14 94121610 94121610 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:94121610delG uc001ybv.1 + 37 6048 c.5965delG c.(5965-5967)GGGfs p.G1989fs KIAA1409_uc001ybs.1_Frame_Shift_Del_p.G1967fs NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2144 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TTTACCAGCAGGGGGTGCTAT 0.423 PARP16 54956 broad.mit.edu 37 15 65578609 65578610 + Frame_Shift_Del DEL AC AC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:65578609_65578610delAC uc002aoo.2 - 1 409_410 c.155_156delGT c.(154-156)TGTfs p.C52fs PARP16_uc002aop.2_Frame_Shift_Del_p.C52fs|PARP16_uc002aoq.2_Frame_Shift_Del_p.C52fs NM_017851 NP_060321 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 52 integral to membrane NAD+ ADP-ribosyltransferase activity lung(2) 2 CAAAGTCCTTACAGTCGCCGCG 0.663 AKAP13 11214 broad.mit.edu 37 15 86123175 86123177 + In_Frame_Del DEL GAA GAA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr15:86123175_86123177delGAA uc002blv.1 + 7 2046_2048 c.1876_1878delGAA c.(1876-1878)GAAdel p.E627del AKAP13_uc002blt.1_In_Frame_Del_p.E627del|AKAP13_uc002blu.1_In_Frame_Del_p.E627del|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 627 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TCTTGGGCTGGAAGAAGATGTAA 0.433 KIAA0664 23277 broad.mit.edu 37 17 2601322 2601322 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:2601322delG uc002fuy.1 - 10 1801 c.1715delC c.(1714-1716)CCGfs p.P572fs KIAA0664_uc002fux.1_Frame_Shift_Del_p.P504fs|KIAA0664_uc010ckc.1_5'Flank NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 572 binding breast(2) 2 GTTGAGGTCCGGGGGGAAGGT 0.692 SEZ6 124925 broad.mit.edu 37 17 27284223 27284224 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:27284223_27284224insG uc002hdp.2 - 13 2725_2726 c.2531_2532insC c.(2530-2532)CCTfs p.P844fs SEZ6_uc010crx.1_Frame_Shift_Ins_p.P39fs|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Frame_Shift_Ins_p.P844fs|SEZ6_uc002hdq.1_Frame_Shift_Ins_p.P719fs NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 844 Extracellular (Potential).|Sushi 5. integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CACCATTCTCAGGGGCACTGAG 0.589 RPS6KB1 6198 broad.mit.edu 37 17 58022829 58022829 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:58022829delA uc002ixy.2 + 14 1393 c.1290delA c.(1288-1290)CCAfs p.P430fs RPS6KB1_uc010ddj.1_Frame_Shift_Del_p.P430fs|RPS6KB1_uc010wom.1_Frame_Shift_Del_p.P377fs|RPS6KB1_uc010won.1_Frame_Shift_Del_p.P407fs|RPS6KB1_uc010woo.1_Frame_Shift_Del_p.P365fs|RPS6KB1_uc002ixz.2_RNA NM_003161 NP_003152 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 430 Autoinhibitory domain. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity large_intestine(1) 1 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) CCTTTGAACCAAAAATCCGAT 0.368 PPM1D 8493 broad.mit.edu 37 17 58740439 58740439 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:58740439delT uc002iyt.1 + 6 1566 c.1344delT c.(1342-1344)AATfs p.N448fs PPM1D_uc010ddm.1_RNA NM_003620 NP_003611 O15297 PPM1D_HUMAN protein phosphatase 1D 448 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) TCTCAGAGAATTTTTTAGAGG 0.448 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) TEX2 55852 broad.mit.edu 37 17 62272340 62272340 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:62272340delT uc002jec.2 - 3 1933 c.1760delA c.(1759-1761)AATfs p.N587fs TEX2_uc002jed.2_Frame_Shift_Del_p.N587fs|TEX2_uc002jee.2_Frame_Shift_Del_p.N587fs NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 587 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CCTGGATATATTTTTATTGGG 0.443 DENND1C 79958 broad.mit.edu 37 19 6468936 6468936 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:6468936delC uc002mfe.2 - 20 1528 c.1436delG c.(1435-1437)GGCfs p.G479fs DENND1C_uc002mfb.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfc.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfd.2_Frame_Shift_Del_p.G29fs|DENND1C_uc010xje.1_Frame_Shift_Del_p.G435fs NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 479 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 CCTCAGAGAGCCCCCCCTCTG 0.627 MAP2K7 5609 broad.mit.edu 37 19 7977071 7977073 + In_Frame_Del DEL AAG AAG - rs139511301 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:7977071_7977073delAAG uc002mit.2 + 10 1182_1184 c.1117_1119delAAG c.(1117-1119)AAGdel p.K373del MAP2K7_uc002miv.2_In_Frame_Del_p.K380del|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_In_Frame_Del_p.K380del|MAP2K7_uc010dvv.2_In_Frame_Del_p.K248del NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 373 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor 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 cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) AAAGTATAATAAGCTACTTGTGA 0.596 CYP4F22 126410 broad.mit.edu 37 19 15648181 15648181 + Frame_Shift_Del DEL C C - rs139235894 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:15648181delC uc002nbh.3 + 5 544 c.377delC c.(376-378)GCCfs p.A126fs NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 126 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 GCTGCCATCGCCCCCAAGGAT 0.408 ZNF473 25888 broad.mit.edu 37 19 50548684 50548684 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:50548684delT uc002prn.2 + 5 1221 c.984delT c.(982-984)GCTfs p.A328fs ZNF473_uc002prm.2_Frame_Shift_Del_p.A328fs|ZNF473_uc010ybo.1_Frame_Shift_Del_p.A316fs NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 328 Interaction with SLBP/pre-mRNA complex.|C2H2-type 3. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GCGGCAAGGCTTTTACCCGGA 0.498 ZNF530 348327 broad.mit.edu 37 19 58118568 58118568 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:58118568delA uc002qpk.2 + 3 1895 c.1675delA c.(1675-1677)AAAfs p.K559fs ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA NM_020880 NP_065931 Q6P9A1 ZN530_HUMAN zinc finger protein 530 559 C2H2-type 12. 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;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTTTACCCGCAAAAATCACCT 0.448 IWS1 55677 broad.mit.edu 37 2 128238676 128238676 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:128238676delT uc002ton.2 - 14 2707 c.2404delA c.(2404-2406)AGCfs p.S802fs NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 802 transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GCAGATCTGCTTTTTTTCCTT 0.423 HNMT 3176 broad.mit.edu 37 2 138758556 138758558 + In_Frame_Del DEL GTT GTT - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:138758556_138758558delGTT uc002tvc.2 + 4 407_409 c.259_261delGTT c.(259-261)GTTdel p.V88del HNMT_uc002tvf.2_In_Frame_Del_p.V88del NM_006895 NP_008826 P50135 HNMT_HUMAN histamine N-methyltransferase isoform 1 88 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) CAACAATGAAGTTGTTGAGCCAA 0.399 BAZ2B 29994 broad.mit.edu 37 2 160335159 160335161 + In_Frame_Del DEL AGA AGA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:160335159_160335161delAGA uc002uao.2 - 3 422_424 c.70_72delTCT c.(70-72)TCTdel p.S24del BAZ2B_uc002uap.2_In_Frame_Del_p.S24del|BAZ2B_uc002uas.1_In_Frame_Del_p.S24del|BAZ2B_uc002uau.1_In_Frame_Del_p.S24del|BAZ2B_uc002uat.3_In_Frame_Del_p.S24del|BAZ2B_uc010fop.1_In_Frame_Del_p.S24del NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CTGAAGCCACAGAAGGTGTCGAA 0.429 C20orf151 140893 broad.mit.edu 37 20 60989485 60989485 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:60989485delG uc002ycw.1 - 10 1079 c.922delC c.(922-924)CTGfs p.L308fs NM_080833 NP_543023 Q8NC74 CT151_HUMAN hypothetical protein LOC140893 308 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;6.43e-06) GCAGGGGCCAGGGGGCTGCTG 0.697 SCUBE1 80274 broad.mit.edu 37 22 43634962 43634963 + Splice_Site INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:43634962_43634963insG uc003bdt.1 - 7 816 c.728_splice c.e7-1 p.E243_splice SCUBE1_uc003bdu.1_Intron NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 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) CGCACGTCTCTGGGGAGGGAAA 0.485 GMPS 8833 broad.mit.edu 37 3 155633847 155633849 + In_Frame_Del DEL GAG GAG - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:155633847_155633849delGAG uc003faq.2 + 9 1413_1415 c.1078_1080delGAG c.(1078-1080)GAGdel p.E361del GMPS_uc011bom.1_In_Frame_Del_p.E262del NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 361 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTTGAAACCAGAGGAGGTTTTCC 0.379 T MLL AML SERPINI1 5274 broad.mit.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:167507159delA uc003ffa.3 + 2 441 c.243delA c.(241-243)CTAfs p.L81fs SERPINI1_uc003ffb.3_Frame_Shift_Del_p.L81fs NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 81 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 ATGACAGCCTAAAAAATGGTA 0.388 GP5 2814 broad.mit.edu 37 3 194118899 194118899 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:194118899delC uc003ftv.1 - 2 144 c.113delG c.(112-114)GGCfs p.G38fs NM_004488 NP_004479 P40197 GPV_HUMAN glycoprotein V (platelet) precursor 38 LRRNT.|Extracellular (Potential). blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane skin(2)|breast(1) 3 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CGCCACGTCGCCCCCCGAGCA 0.692 BOD1L 259282 broad.mit.edu 37 4 13610188 13610189 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:13610188_13610189insT uc003gmz.1 - 8 1824_1825 c.1707_1708insA c.(1705-1710)AAAGTAfs p.K569fs BOD1L_uc010idr.1_5'UTR NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 569_570 Lys-rich. DNA binding ovary(5)|breast(1) 6 CTTAAGGCTACTTTTTTTTCTA 0.366 CLGN 1047 broad.mit.edu 37 4 141327187 141327188 + Frame_Shift_Del DEL CT CT - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:141327187_141327188delCT uc011chi.1 - 6 545_546 c.327_328delAG c.(325-330)AGAGGAfs p.R109fs CLGN_uc003iii.2_Frame_Shift_Del_p.R109fs NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 109_110 Lumenal (Potential). protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) AATACCAGTCCTCTGTCACCAG 0.337 IRF2 3660 broad.mit.edu 37 4 185340707 185340708 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:185340707_185340708insA uc003iwf.3 - 3 302_303 c.102_103insT c.(100-105)TTTCAGfs p.F34fs NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 34_35 IRF tryptophan pentad repeat. blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) CAGGGGATCTGAAAAATCTTCT 0.426 NR2F1 7025 broad.mit.edu 37 5 92921054 92921056 + In_Frame_Del DEL TTC TTC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:92921054_92921056delTTC uc003kkj.2 + 1 2012_2014 c.325_327delTTC c.(325-327)TTCdel p.F110del NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 110 Nuclear receptor. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CTGCAAAAGTTTCTTCAAGAGGA 0.596 SCAND3 114821 broad.mit.edu 37 6 28554433 28554434 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:28554433_28554434insC uc003nlo.2 - 1 679_680 c.61_62insG c.(61-63)GAGfs p.E21fs uc003nlp.1_5'Flank NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 21 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTTGATAATCTCCCCTTGTTCT 0.505 PRRT1 80863 broad.mit.edu 37 6 32118218 32118218 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:32118218delC uc003nzt.2 - 2 601 c.485delG c.(484-486)GGCfs p.G162fs PRRT1_uc003nzs.2_Frame_Shift_Del_p.G203fs|PRRT1_uc003nzu.2_Frame_Shift_Del_p.G54fs NM_030651 NP_085154 Q99946 PRRT1_HUMAN NG5 protein 162 response to biotic stimulus integral to membrane breast(1) 1 CGCTACGTAGCCCCCCAGCGG 0.617 C7orf50 84310 broad.mit.edu 37 7 1037311 1037311 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:1037311delG uc003sju.2 - 5 605 c.535delC c.(535-537)CTGfs p.L179fs C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs NM_032350 NP_115726 Q9BRJ6 CG050_HUMAN hypothetical protein LOC84310 179 protein binding 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) CTCCCCGGCAGGGGGGGATCA 0.721 CYP51A1 1595 broad.mit.edu 37 7 91752448 91752450 + In_Frame_Del DEL AAG AAG - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:91752448_91752450delAAG uc003ulm.3 - 7 1232_1234 c.1070_1072delCTT c.(1069-1074)CCTTTA>CTA p.P357del CYP51A1_uc011khn.1_In_Frame_Del_p.P252del|CYP51A1_uc003uln.3_In_Frame_Del_p.P294del NM_000786 NP_000777 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, 351 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity 0 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) TCATAAGTTAAAGGAGGCAGATT 0.365 WNT2 7472 broad.mit.edu 37 7 116937798 116937798 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:116937798delC uc003viz.2 - 4 1021 c.721delG c.(721-723)GCCfs p.A241fs WNT2_uc003vja.2_Frame_Shift_Del_p.A145fs NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 241 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) ACCTGGATGGCCCCATTGTAC 0.522 RBM28 55131 broad.mit.edu 37 7 127973348 127973349 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:127973348_127973349insA uc003vmp.2 - 9 1129_1130 c.1014_1015insT c.(1012-1017)TTTATCfs p.F338fs RBM28_uc003vmo.2_5'UTR|RBM28_uc011koj.1_Frame_Shift_Ins_p.F197fs|RBM28_uc011kok.1_Frame_Shift_Ins_p.F285fs NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 338_339 RRM 3. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 ACATACCTGATAAAAACAGTTT 0.386 PRKDC 5591 broad.mit.edu 37 8 48743276 48743276 + Frame_Shift_Del DEL T T - rs67313876 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:48743276delT uc003xqi.2 - 62 8344 c.8287delA c.(8287-8289)ATGfs p.M2763fs PRKDC_uc003xqj.2_Frame_Shift_Del_p.M2763fs|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2763 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TCCTGCTTCATTTTTAACTCA 0.483 NHEJ ARAF 369 broad.mit.edu 37 X 47426121 47426126 + In_Frame_Del DEL CCACTC CCACTC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:47426121_47426126delCCACTC uc011mlq.1 + 7 774_779 c.641_646delCCACTC c.(640-648)TCCACTCCC>TCC p.TP215del ARAF_uc011mln.1_Intron|ARAF_uc011mlo.1_In_Frame_Del_p.TP81del|ARAF_uc011mlp.1_In_Frame_Del_p.TP215del|ARAF_uc004dic.1_5'UTR NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 215_216 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) CGCTCCACGTCCACTCCCAACGTCCA 0.660 KDM5C 8242 broad.mit.edu 37 X 53222309 53222309 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:53222309delG uc004drz.2 - 26 5056 c.4523delC c.(4522-4524)CCTfs p.P1508fs KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Frame_Shift_Del_p.P1507fs|uc004dsb.1_Intron NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 1508 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 GATGGGTGCAGGGGGGCCCTC 0.662 N|F|S clear cell renal carcinoma MAGEE2 139599 broad.mit.edu 37 X 75004754 75004754 + Frame_Shift_Del DEL G G - rs61732441 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:75004754delG uc004ecj.1 - 1 318 c.133delC c.(133-135)CAGfs p.Q45fs NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 45 ovary(1)|skin(1) 2 TGAGGGCACTGGGGGGCATCA 0.587 SASH3 54440 broad.mit.edu 37 X 128922006 128922006 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:128922006delC uc011mun.1 + 2 295 c.113delC c.(112-114)TCCfs p.S38fs SASH3_uc004euu.2_Frame_Shift_Del_p.S38fs|SASH3_uc011muo.1_5'UTR NM_018990 NP_061863 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 38 ovary(2)|pancreas(1) 3 AAACCCAGCTCCCCCGTGGTG 0.567 ARID1A 8289 broad.mit.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 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""" PHACTR4 65979 broad.mit.edu 37 1 28800273 28800273 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:28800272_28800272TC>T uc001bpy.3 + 5 1295 c.1060_1060TC>T c.(1060-1062)tccfs p.S354fs PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Del_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Del_p.S328fs NM_023923 NP_076412 Q8IZ21 PHAR4_HUMAN Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA. 344 Pro-rich. actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACT 0.512 EIF2C1 26523 broad.mit.edu 37 1 36354045 36354046 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:36354044_36354045G>GC uc001bzl.3 + 1 255_256 c.42_43G>GC c.(40-45)ctgcccfs p.L14fs EIF2C1_uc001bzk.3_5'UTR NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 14 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCGCTTACCTGCCCCCCCTGCA 0.569 THRAP3 9967 broad.mit.edu 37 1 36762332 36762333 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:36762331_36762332G>GA uc001cae.4 + 8 2487_2488 c.2263_2264G>GA c.(2263-2265)gaafs p.E755fs THRAP3_uc001caf.4_Frame_Shift_Ins_p.E755fs NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA. 755 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAGGTCAGCTGAAAAAACAGAG 0.431 T USP6 aneurysmal bone cysts FHL3 2275 broad.mit.edu 37 1 38465063 38465064 + Frame_Shift_Del DEL CA CA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:38465062_38465063GCA>G uc001cck.3 - 1 201_202 c.22_23TGC>C c.(22-24)gcafs p.A8fs FHL3_uc001ccm.3_Intron|FHL3_uc009vvl.2_Frame_Shift_Del_p.A8fs NM_004468 NP_004459 Q13643 FHL3_HUMAN Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA. 8 muscle organ development zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GTTGCATTTTGCACAGTCAAAT 0.550 ZNF642 339559 broad.mit.edu 37 1 40945114 40945114 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:40945113_40945113AG>A uc010ojk.2 + 1 374 c.80_80AG>A c.(79-81)gagfs p.E27fs ZNF642_uc001cfo.3_Frame_Shift_Del_p.E27fs|ZNF642_uc009vwb.3_Frame_Shift_Del_p.E27fs NM_198494 NP_940896 Q49AA0 ZN642_HUMAN Homo sapiens zinc finger protein 642 (ZNF642), mRNA. 27 SCAN box. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) AAGGCCGTGGAGGGGGCGCCC 0.547 IVNS1ABP 10625 broad.mit.edu 37 1 185277957 185277958 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:185277956_185277957C>CT uc001grl.3 - 4 955_956 c.332_333G>AG c.(331-333)aagfs p.K111fs IVNS1ABP_uc001grj.3_5'Flank|IVNS1ABP_uc009wyj.3_5'UTR|IVNS1ABP_uc009wyk.3_Non-coding_Transcript NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA. 111 K -> E (in Ref. 1; CAA10029). RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 CCATCTTCAGCTTTTTTGCTGC 0.302 MIA3 375056 broad.mit.edu 37 1 222802633 222802634 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:222802632_222802633G>GT uc001hnl.3 + 3 2079_2080 c.2070_2071G>GT c.(2068-2073)gagtttfs p.E690fs MIA3_uc009xea.1_Frame_Shift_Ins_p.E526fs NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 690 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 breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TGGATGAAGAGTTTTTTCATCA 0.480 KIF26B 55083 broad.mit.edu 37 1 245849479 245849479 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:245849478_245849478TC>T uc001ibf.1 + 11 3633 c.3193_3193TC>T c.(3193-3195)tccfs p.S1065fs KIF26B_uc001ibg.1_Frame_Shift_Del_p.S683fs|KIF26B_uc001ibh.1_Frame_Shift_Del_p.S307fs NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 1065 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCCCATGGGCTCCCCCCGGCT 0.662 OR2C3 81472 broad.mit.edu 37 1 247695356 247695356 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr1:247695355_247695355AC>A uc021pmb.1 - 0 459 c.459_459GT>T c.(457-459)ggtfs p.G153fs C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Frame_Shift_Del_p.G153fs NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G152V(2) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGGTGGTCAGACCCCCCAGCC 0.567 ROCK2 9475 broad.mit.edu 37 2 11389837 11389838 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:11389836_11389837C>CA uc002rbd.1 - 3 861_862 c.412_413G>TG c.(412-414)tggfs p.W138fs NM_004850 NP_004841 O75116 ROCK2_HUMAN Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA. 138 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity p.W138fs*31(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TCTTTCTTCCCAAAAAAAGGCA 0.356 SLC30A3 7781 broad.mit.edu 37 2 27478188 27478189 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:27478187_27478188T>TG uc002rjk.3 - 7 1345_1346 c.1159_1160A>CA c.(1159-1161)caafs p.Q387fs SLC30A3_uc002rjj.3_Frame_Shift_Ins_p.P232fs|SLC30A3_uc010ylh.2_Frame_Shift_Ins_p.Q382fs NM_003459 NP_003450 Q99726 ZNT3_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA. 387 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCTCAGGCTTGGGGGGGTTCC 0.658 CCDC142 84865 broad.mit.edu 37 2 74701702 74701702 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:74701701_74701701GA>G uc002slr.3 - 8 2618 c.2225_2225TC>C c.(2224-2226)tccfs p.S742fs MRPL53_uc002sln.3_5'Flank|CCDC142_uc002slo.3_Intron|CCDC142_uc002slq.3_Frame_Shift_Del_p.S735fs|CCDC142_uc002slp.2_3'UTR NM_032779 NP_116168 Q17RM4 CC142_HUMAN Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA. 742 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 TCCCAGGCAGGAAAAAAACGG 0.572 EDAR 10913 broad.mit.edu 37 2 109545660 109545664 + Frame_Shift_Del DEL AGGCA AGGCA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:109545659_109545663GAGGCA>G uc010fjn.3 - 4 894_898 c.347_351TGCCTC>C c.(346-351)tgcctcfs p.C116fs EDAR_uc010yws.2_Frame_Shift_Del_p.C116fs|EDAR_uc002teq.4_Frame_Shift_Del_p.C116fs NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 116 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity p.C116Y(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CTTACCCAGGGAGGCAAGGGCCACA 0.600 ANAPC1 64682 broad.mit.edu 37 2 112614258 112614259 + Splice_Site INS - - T rs4067742 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:112614257_112614258C>CT uc002thi.3 - 13 1697 c.1450_splice c.e13-1 p.K484_splice NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 484 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TGTCTATTTTCTAAAAAAACAA 0.361 IWS1 55677 broad.mit.edu 37 2 128252502 128252502 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:128252501_128252501CT>C uc002ton.2 - 7 2049 c.1746_1746AG>G c.(1744-1746)aagfs p.K582fs IWS1_uc010yzl.1_Non-coding_Transcript NM_017969 NP_060439 Q96ST2 IWS1_HUMAN Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA. 582 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TCAGTGCTGGCTTTTTTTGAT 0.264 IWS1 55677 broad.mit.edu 37 2 128262790 128262790 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:128262789_128262789TG>T uc002ton.2 - 2 993 c.690_690CA>A c.(688-690)ccafs p.P230fs IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Non-coding_Transcript NM_017969 NP_060439 Q96ST2 IWS1_HUMAN Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA. 230 Glu-rich. transcription, DNA-dependent nucleus DNA binding p.P230fs*160(1) cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CCTGGTGCCTTGGGGGTTCCT 0.522 FAM123C 205147 broad.mit.edu 37 2 131520225 131520225 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:131520224_131520224TG>T uc021voy.1 + 0 579 c.579_579TG>T c.(577-579)cctfs p.P193fs FAM123C_uc002trw.2_Frame_Shift_Del_p.P193fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.P193fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.P193fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.P193fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.P193fs NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 193 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CGTCAGACCCTGGGGGGCGGC 0.667 POTEE 445582 broad.mit.edu 37 2 132021451 132021451 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:132021450_132021450GC>G uc002tsn.2 + 14 2474 c.2422_2422GC>G c.(2422-2424)gccfs p.A808fs PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Frame_Shift_Del_p.A408fs|POTEE_uc002tsl.2_Frame_Shift_Del_p.A390fs|POTEE_uc010fmy.1_Frame_Shift_Del_p.A272fs NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 808 Actin-like. ATP binding GCTGACCGAGGCCCCCCTGAA 0.597 GPR39 2863 broad.mit.edu 37 2 133402811 133402811 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:133402810_133402810GT>G uc002ttl.3 + 1 1462 c.993_993GT>G c.(991-993)acgfs p.T331fs LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR NM_001508 NP_001499 O43194 GPR39_HUMAN Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA. 331 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTCGGAGACGTTTTTCTACC 0.607 MGAT5 4249 broad.mit.edu 37 2 135028124 135028124 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:135028123_135028123TA>T uc002ttw.4 + 2 551 c.406_splice c.e2+2 p.D136_splice NM_002410 NP_002401 Q09328 MGT5A_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA. 136 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) ATGTGGCAGGTAAAAATAGCA 0.443 XIRP2 129446 broad.mit.edu 37 2 168099958 168099958 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:168099957_168099957TG>T uc002udx.3 + 8 2144 c.2055_2055TG>T c.(2053-2055)actfs p.T685fs XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Del_p.T510fs|XIRP2_uc010fpq.3_Frame_Shift_Del_p.T463fs|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGACATAACTGGGGGGGATG 0.418 XIRP2 129446 broad.mit.edu 37 2 168103737 168103738 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:168103736_168103737T>TA uc002udx.3 + 8 5923_5924 c.5834_5835T>TA c.(5833-5835)atafs p.I1945fs XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Ins_p.I1770fs|XIRP2_uc010fpq.3_Frame_Shift_Ins_p.I1723fs|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1770 actin cytoskeleton organization cell junction actin binding p.V1944I(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAGGTGTAATAAAAAAAGATG 0.391 HOXD8 3234 broad.mit.edu 37 2 176995424 176995424 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:176995423_176995423CT>C uc002uko.3 + 0 956 c.329_329CT>C c.(328-330)cctfs p.P110fs AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P110fs NM_019558 NP_062458 P13378 HXD8_HUMAN Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA. 110 Poly-Pro. anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GCCGccccccctcctcctccg 0.726 TTN 7273 broad.mit.edu 37 2 179648873 179648873 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:179648872_179648872CT>C uc021vsy.1 - 15 2925 c.2700_2700AG>G c.(2698-2700)aagfs p.K900fs TTN_uc021vsz.1_Frame_Shift_Del_p.K854fs|TTN_uc021vta.1_Frame_Shift_Del_p.K854fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K854fs|TTN_uc002unb.2_Frame_Shift_Del_p.K900fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 900 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCCCTACTTCCTTTTTCACCT 0.547 CCDC150 284992 broad.mit.edu 37 2 197511222 197511222 + Frame_Shift_Del DEL A A - rs34248242 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:197511221_197511221GA>G uc002utp.1 + 1 304 c.169_169GA>G c.(169-171)gaafs p.E57fs CCDC150_uc002uto.1_Frame_Shift_Del_p.E57fs|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_5'UTR NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA. 57 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GGATTTTGGTGAAAAAAGGTA 0.373 CRYGD 1421 broad.mit.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:209025576_209025576AC>A uc002vcq.4 - 2 494 c.477_477GT>T c.(475-477)ggtfs p.G159fs CRYGD_uc021vvu.1_Intron NM_014617 NP_055432 P07320 CRGD_HUMAN Homo sapiens crystallin, gamma A (CRYGA), mRNA. 159 Beta/gamma crystallin 'Greek key' 4. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) TGGCATCTGCACCCCCCCAGT 0.527 ABCB6 10058 broad.mit.edu 37 2 220081103 220081103 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:220081102_220081102AC>A uc002vkc.2 - 3 2733 c.954_954GT>T c.(952-954)ggtfs p.G318fs ABCB6_uc010fwe.2_Frame_Shift_Del_p.G272fs|ABCB6_uc010zku.1_Non-coding_Transcript NM_005689 NP_005680 Q9NP58 ABCB6_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA. 318 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity p.G318fs*9(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCCAGTGCCACCCCCCTGGA 0.567 NEU2 4759 broad.mit.edu 37 2 233899664 233899664 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr2:233899663_233899663TC>T uc010zmn.2 + 1 1039 c.1039_1039TC>T c.(1039-1041)tccfs p.S347fs NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA. 347 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CCCTGATGGGTCCCCCTTGTT 0.592 CCR8 1237 broad.mit.edu 37 3 39374508 39374508 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:39374507_39374507CA>C uc010hhr.2 + 1 823 c.685_685CA>C c.(685-687)caafs p.Q229fs CCR8_uc003cjm.2_Frame_Shift_Del_p.Q146fs|CCR8_uc021wwe.1_Frame_Shift_Del_p.Q229fs NM_005201 NP_005192 P51685 CCR8_HUMAN Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA. 229 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) GAAGAGGTGTCAAAACCACAA 0.423 EIF4E3 317649 broad.mit.edu 37 3 71739264 71739266 + In_Frame_Del DEL GAC GAC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:71739263_71739265GGAC>G uc003dov.4 - 5 532_534 c.524_526GTCC>C c.(523-528)gtccaa>gCaa p.175_176VQ>A EIF4E3_uc011bgc.2_In_Frame_Del_p.69_70VQ>A|EIF4E3_uc003dox.3_In_Frame_Del_p.69_70VQ>A|EIF4E3_uc011bgd.2_In_Frame_Del_p.69_70VQ>A|EIF4E3_uc010hoc.3_In_Frame_Del_p.69_70VQ>A NM_001134651 NP_775495 Q8N5X7 IF4E3_HUMAN Homo sapiens eukaryotic translation initiation factor 4E family member 3 (EIF4E3), transcript variant 1, mRNA. 175 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity large_intestine(1)|lung(3) 4 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) TTCCAGACTTGGACGACGTCTTC 0.394 GPR128 84873 broad.mit.edu 37 3 100354673 100354673 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:100354672_100354672TA>T uc003duc.3 + 5 865 c.597_splice c.e5+2 p.E199_splice GPR128_uc011bhc.2_Splice_Site NM_032787 NP_116176 Q96K78 GP128_HUMAN Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA. 199 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.?(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TCACCTGAGGTAAAACTCACA 0.368 ALCAM 214 broad.mit.edu 37 3 105250904 105250904 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:105250903_105250903TA>T uc003dvx.3 + 3 1148 c.452_452TA>T c.(451-453)ctafs p.L151fs ALCAM_uc003dvw.2_Frame_Shift_Del_p.L151fs|ALCAM_uc003dvy.3_Frame_Shift_Del_p.L151fs|ALCAM_uc011bhh.1_Frame_Shift_Del_p.L100fs|ALCAM_uc010hpp.3_5'Flank NM_001627 NP_001618 Q13740 CD166_HUMAN Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA. 151 Ig-like V-type 2. cell adhesion|signal transduction integral to membrane receptor binding p.L151L(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 ACAGAGCAGCTAAAAAAGGTA 0.338 SI 6476 broad.mit.edu 37 3 164781250 164781250 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:164781249_164781249TA>T uc003fei.3 - 7 951 c.888_888TA>A c.(886-888)ttafs p.L296fs NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 296 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.L296fs*4(2) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGCTATTCATTAAAAAAACAC 0.259 HNSCC(35;0.089) MUC4 4585 broad.mit.edu 37 3 195488372 195488372 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr3:195488371_195488371GA>G uc021xjp.1 - 14 14754 c.14598_14598TC>C c.(14596-14598)ttcfs p.F4866fs MUC4_uc003fuz.3_Frame_Shift_Del_p.F464fs|MUC4_uc003fva.3_Frame_Shift_Del_p.F346fs|MUC4_uc003fvb.3_Frame_Shift_Del_p.F382fs|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Frame_Shift_Del_p.F382fs|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Frame_Shift_Del_p.F375fs|MUC4_uc021xjn.1_Frame_Shift_Del_p.F555fs|MUC4_uc021xjo.1_Frame_Shift_Del_p.F346fs|MUC4_uc021xjg.1_Frame_Shift_Del_p.F346fs|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Frame_Shift_Del_p.F430fs|MUC4_uc021xjj.1_Frame_Shift_Del_p.F430fs|MUC4_uc021xjk.1_Frame_Shift_Del_p.F607fs|MUC4_uc021xjl.1_Frame_Shift_Del_p.F346fs|MUC4_uc003fvo.3_Frame_Shift_Del_p.F630fs|MUC4_uc003fvp.3_Frame_Shift_Del_p.F579fs NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1623 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TTCCAAAGTGGAAAAGCATCT 0.592 GRK4 2868 broad.mit.edu 37 4 3015460 3015460 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:3015459_3015459CA>C uc003ggn.1 + 7 1100 c.645_645CA>C c.(643-645)tgcfs p.C215fs GRK4_uc003ggo.1_Frame_Shift_Del_p.C215fs|GRK4_uc003ggp.1_Frame_Shift_Del_p.C183fs|GRK4_uc003ggq.1_Frame_Shift_Del_p.C183fs NM_182982 NP_892027 P32298 GRK4_HUMAN Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA. 215 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTATGCCTGCAAAAAGCTAC 0.388 CNGA1 1259 broad.mit.edu 37 4 47939172 47939172 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:47939171_47939171GT>G uc003gxu.3 - 9 1688 c.1547_1547AC>C c.(1546-1548)acafs p.T516fs BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Frame_Shift_Del_p.T447fs NM_001142564 NP_000078 P29973 CNGA1_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA. 447 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 CTCATCAACTGTTTTTTTGTT 0.328 PTPN13 5783 broad.mit.edu 37 4 87691300 87691301 + Frame_Shift_Del DEL TT TT - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:87691299_87691300CTT>C uc003hpz.3 + 29 5230_5231 c.4750_4751CTT>C c.(4750-4752)cttfs p.L1584fs PTPN13_uc003hpy.3_Frame_Shift_Del_p.L1589fs|PTPN13_uc003hqa.3_Frame_Shift_Del_p.L1565fs|PTPN13_uc003hqb.3_Frame_Shift_Del_p.L1393fs|PTPN13_uc003hqc.1_5'UTR NM_080683 NP_542414 Q12923 PTN13_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA. 1584 PDZ 3. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AGTATTCTTGCTTCTCTGCAGA 0.416 INTS12 57117 broad.mit.edu 37 4 106621122 106621122 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:106621121_106621121CA>C uc003hxw.3 - 2 300 c.42_42TG>G c.(40-42)ttgfs p.L14fs INTS12_uc010ilr.3_Frame_Shift_Del_p.L14fs NM_020395 NP_065128 Q96CB8 INT12_HUMAN Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA. 14 snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) CTAGTGCTTTCAAAAAAATGG 0.388 ADAM29 11086 broad.mit.edu 37 4 175898771 175898772 + Frame_Shift_Ins INS - - A rs34732497 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:175898770_175898771T>TA uc003iuc.3 + 4 2764_2765 c.2094_2095T>TA c.(2092-2097)tgtaaafs p.C698fs ADAM29_uc003iud.3_Frame_Shift_Ins_p.C698fs|ADAM29_uc010irr.3_Frame_Shift_Ins_p.C698fs|ADAM29_uc011cki.2_Frame_Shift_Ins_p.C698fs|ADAM29_uc021xuo.1_Frame_Shift_Ins_p.C698fs NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 698 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ATCGACTTTGTAAAAAAAGTAA 0.351 IRF2 3660 broad.mit.edu 37 4 185340708 185340709 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr4:185340707_185340708G>GA uc003iwf.4 - 2 302_303 c.102_103C>TC c.(100-105)tttcagfs p.F34fs NM_002199 NP_002190 P14316 IRF2_HUMAN Homo sapiens interferon regulatory factor 2 (IRF2), mRNA. 34 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) CAGGGGATCTGAAAAATCTTCT 0.426 OSMR 9180 broad.mit.edu 37 5 38923329 38923329 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:38923328_38923328GA>G uc003jln.2 + 12 2244 c.1842_1842GA>G c.(1840-1842)gagfs p.E614fs OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 614 Fibronectin type-III 3. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GTTTATTAGAGAAAAAAACAG 0.368 IPO11 51194 broad.mit.edu 37 5 61770245 61770245 + Splice_Site DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:61770244_61770244GT>G uc011cqr.2 + 8 959 c.829_splice c.e8-1 p.G277_splice IPO11_uc003jtc.3_Splice_Site_p.G237_splice NM_001134779 NP_057422 Q9UI26 IPO11_HUMAN Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA. 237 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) CTTTTCTAGGGTTTTTTACAT 0.274 TMEM171 134285 broad.mit.edu 37 5 72424240 72424240 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:72424239_72424239AC>A uc003kcm.2 + 2 867 c.663_663AC>A c.(661-663)ccafs p.P221fs TMEM171_uc003kcn.3_Frame_Shift_Del_p.P221fs NM_173490 NP_775761 Q8WVE6 TM171_HUMAN Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA. 221 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) TAATATTTCCACCCCCTCCAC 0.403 PPIP5K2 23262 broad.mit.edu 37 5 102537309 102537310 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:102537308_102537309C>CA uc003kod.4 + 30 4224_4225 c.3705_3706C>CA c.(3703-3708)cacaaafs p.H1235fs PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Frame_Shift_Ins_p.H1214fs|PPIP5K2_uc003kof.3_Frame_Shift_Ins_p.H417fs NM_015216 NP_056031 O43314 VIP2_HUMAN Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA. 1235 inositol metabolic process cytosol ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CGCATGAACACAAAAAAAACAC 0.317 SEMA6A 57556 broad.mit.edu 37 5 115782765 115782765 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:115782764_115782764TG>T uc003krx.4 - 19 3398 c.2689_2689CA>A c.(2689-2691)aaafs p.K897fs SEMA6A_uc010jck.3_Frame_Shift_Del_p.K880fs|SEMA6A_uc011cwe.2_Frame_Shift_Del_p.K259fs|SEMA6A_uc003krv.4_Frame_Shift_Del_p.K307fs|SEMA6A_uc003krw.4_Frame_Shift_Del_p.K357fs|SEMA6A_uc010jcj.3_Frame_Shift_Del_p.K424fs NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA. 880 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity p.Q897H(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) TGTGGAACTTTGGGGGGCAGG 0.607 SEC24A 10802 broad.mit.edu 37 5 134059335 134059335 + Frame_Shift_Del DEL T T - rs143698448 by1000genomes TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:134059334_134059334AT>A uc003kzs.3 + 21 3433 c.3141_3141AT>A c.(3139-3141)ccafs p.P1047fs SEC24A_uc011cxu.2_Frame_Shift_Del_p.P811fs NM_021982 NP_068817 O95486 SC24A_HUMAN Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA. 1047 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 zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGCAGAGACCATTTTTCCCAA 0.373 FAM13B 51306 broad.mit.edu 37 5 137284728 137284728 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:137284727_137284727GT>G uc003lbz.2 - 16 2545 c.2011_2011AC>C c.(2011-2013)ccafs p.P671fs FAM13B_uc003lcb.2_Frame_Shift_Del_p.P575fs|FAM13B_uc003lca.2_Frame_Shift_Del_p.P671fs NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA. 671 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 TCTTTAGATGGTTTTTTCTCC 0.378 FLT4 2324 broad.mit.edu 37 5 180058748 180058749 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr5:180058747_180058748C>CG uc003mlz.4 - 1 168_169 c.89_90G>CG c.(88-90)ccgfs p.P30fs FLT4_uc003mma.4_Frame_Shift_Ins_p.P30fs|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Frame_Shift_Ins_p.P30fs|FLT4_uc011dgz.1_Frame_Shift_Ins_p.P30fs|FLT4_uc011dha.1_Frame_Shift_Ins_p.P30fs NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 30 Ig-like C2-type 1. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.P30fs*3(3) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGTTCAAGGTCGGGGGGGTCAT 0.634 SCAND3 114821 broad.mit.edu 37 6 28554434 28554435 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:28554433_28554434T>TC uc003nlo.3 - 0 679_680 c.61_62A>GA c.(61-63)gagfs p.E21fs AK056211_uc003nlp.1_5'Flank NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 21 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TTTGATAATCTCCCCTTGTTCT 0.505 SLC26A8 116369 broad.mit.edu 37 6 35912065 35912066 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:35912064_35912065A>AT uc003olm.3 - 19 2636_2637 c.2525_2526T>AT c.(2524-2526)aatfs p.N842fs SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Frame_Shift_Ins_p.N424fs|SLC26A8_uc003oll.3_Frame_Shift_Ins_p.N737fs|SLC26A8_uc003oln.3_Frame_Shift_Ins_p.N842fs NM_001193476 NP_443193 Q96RN1 S26A8_HUMAN Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA. 842 Interaction with RACGAP1. 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 breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CTGGACTTACATTTTTTTGGCT 0.401 FOXP4 116113 broad.mit.edu 37 6 41555186 41555187 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:41555185_41555186A>AC uc003oql.3 + 6 1265_1266 c.807_808A>AC c.(805-810)tcacccfs p.S269fs FOXP4_uc003oqm.3_Frame_Shift_Ins_p.S267fs|FOXP4_uc003oqn.3_Frame_Shift_Ins_p.S268fs NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA. 269 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CCAAGGTCTCACCCCCCCTCTC 0.678 OREG0004065 type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay HTR1E 3354 broad.mit.edu 37 6 87725847 87725847 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:87725846_87725846TC>T uc003pli.3 + 1 1497 c.794_794TC>T c.(793-795)atcfs p.I265fs HTR1E_uc021zcg.1_Frame_Shift_Del_p.I265fs NM_000865 NP_000856 P28566 5HT1E_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA. 265 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.F268fs*4(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCCATCAGGATCCCCCCCTTC 0.507 SHPRH 257218 broad.mit.edu 37 6 146266724 146266724 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr6:146266723_146266723CT>C uc003qlf.3 - 7 1771 c.1372_1372AG>G c.(1372-1374)ggafs p.G458fs SHPRH_uc003qle.3_Frame_Shift_Del_p.G458fs|SHPRH_uc003qlg.1_Frame_Shift_Del_p.G14fs|SHPRH_uc003qlj.1_Frame_Shift_Del_p.G347fs NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA. 458 H15. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding p.G458V(1) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ATGGACACTCCTTTTTTTCCA 0.328 STEAP4 79689 broad.mit.edu 37 7 87912360 87912360 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:87912359_87912359AG>A uc022agz.1 - 3 804 c.581_581CT>T c.(580-582)ctgfs p.L194fs STEAP4_uc003ujs.3_Frame_Shift_Del_p.L194fs|STEAP4_uc010lek.3_Intron NM_001205315 NP_001192244 Q687X5 STEA4_HUMAN Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA. 194 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) AAATAGCTGCAGGGGGTACTT 0.408 EMID2 136227 broad.mit.edu 37 7 101183269 101183269 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:101183268_101183268TC>T uc010lhy.1 + 4 728 c.536_536TC>T c.(535-537)ctcfs p.L179fs EMID2_uc003uyo.1_Frame_Shift_Del_p.L181fs NM_133457 NP_597714 Q96A83 EMID2_HUMAN Homo sapiens EMI domain containing 2 (EMID2), mRNA. 181 collagen breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 18 Lung NSC(181;0.215) GAGGACTTCCTCCCCGACGCC 0.682 RBM28 55131 broad.mit.edu 37 7 127973349 127973350 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:127973348_127973349T>TA uc003vmp.2 - 8 1129_1130 c.1014_1015A>TA c.(1012-1017)tttatcfs p.F338fs RBM28_uc011koj.1_Frame_Shift_Ins_p.F197fs|RBM28_uc011kok.1_Frame_Shift_Ins_p.F285fs NM_018077 NP_060547 Q9NW13 RBM28_HUMAN Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA. 338 RRM 3. RNA splicing|mRNA processing Golgi apparatus|nucleolus|spliceosomal complex RNA binding|nucleotide binding p.I339T(1) breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 ACATACCTGATAAAAACAGTTT 0.386 BRAF 673 broad.mit.edu 37 7 140482927 140482928 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:140482926_140482927A>AG uc003vwc.4 - 9 1269_1270 c.1208_1209T>CT c.(1207-1209)cctfs p.P403fs NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 403 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GTAATGAGGCAGGGGGGGTAGC 0.431 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome ZNF746 155061 broad.mit.edu 37 7 149191320 149191320 + Frame_Shift_Del DEL G G - rs75141970 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:149191319_149191319CG>C uc010lpi.2 - 1 571 c.300_300CG>G c.(298-300)ccgfs p.P100fs ZNF746_uc003wfw.2_Frame_Shift_Del_p.P100fs NM_001163474 NP_001156946 Q6NUN9 ZN746_HUMAN Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA. 100 KRAB. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CCTTGCTGCCCGGGGGCAGCC 0.667 SSPO 23145 broad.mit.edu 37 7 149485459 149485459 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr7:149485458_149485458TC>T uc010lpk.3 + 26 3864 c.3864_3864TC>T c.(3862-3864)tgtfs p.C1288fs NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 1288 TIL 3. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCCACGTGTCCCCCCACCT 0.647 FZD3 7976 broad.mit.edu 37 8 28385159 28385160 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:28385158_28385159A>AT uc003xgx.3 + 4 1410_1411 c.881_882A>AT c.(880-882)tatfs p.Y294fs FZD3_uc010lvb.3_Frame_Shift_Ins_p.Y294fs NM_017412 NP_665873 Q9NPG1 FZD3_HUMAN Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA. 294 G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) ATGATACTCTATTTTTTTACTA 0.421 GPR124 25960 broad.mit.edu 37 8 37691605 37691605 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:37691604_37691604TG>T uc003xkj.3 + 10 1952 c.1566_1566TG>T c.(1564-1566)attfs p.I522fs GPR124_uc010lvy.3_Frame_Shift_Del_p.I522fs NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 522 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGGAGCGCATTGGGGGGGCCG 0.687 PHF20L1 51105 broad.mit.edu 37 8 133836264 133836265 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:133836263_133836264G>GA uc003ytt.3 + 12 1919_1920 c.1594_1595G>GA c.(1594-1596)gaafs p.E532fs PHF20L1_uc003yts.3_Frame_Shift_Ins_p.E532fs|PHF20L1_uc011lja.2_Frame_Shift_Ins_p.E506fs|PHF20L1_uc003ytu.1_Non-coding_Transcript NM_016018 NP_057102 A8MW92 P20L1_HUMAN Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA. 532 Lys-rich. nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) ATCGAAAACAGAAAAAAAAGTG 0.317 ZNF16 7564 broad.mit.edu 37 8 146157244 146157244 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr8:146157243_146157243CT>C uc003zet.3 - 3 1117 c.930_930AG>G c.(928-930)aagfs p.K310fs ZNF16_uc003zeu.3_Frame_Shift_Del_p.K310fs NM_001029976 NP_008889 P17020 ZNF16_HUMAN Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA. 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) ACTTTTGGTGCTTTTTAAGGC 0.443 RLN1 6013 broad.mit.edu 37 9 5335330 5335330 + Frame_Shift_Del DEL T T - rs149069258 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:5335329_5335329CT>C uc003zjb.1 - 1 607 c.480_480AG>G c.(478-480)aagfs p.K160fs NM_006911 NP_008842 P04808 REL1_HUMAN Homo sapiens relaxin 1 (RLN1), mRNA. 160 female pregnancy|signal transduction extracellular region hormone activity large_intestine(1)|lung(4) 5 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984) AGGGTCGTCTCTTTTTTTGAG 0.383 FREM1 158326 broad.mit.edu 37 9 14769869 14769869 + Splice_Site DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:14769868_14769868TA>T uc003zlm.3 - 28 5876 c.5060_splice c.e28-1 p.G1687_splice FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Splice_Site|FREM1_uc003zll.3_Splice_Site_p.G223_splice NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1687 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TAAATTCACCTAAAAAAAGAA 0.264 GDA 9615 broad.mit.edu 37 9 74810422 74810422 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:74810421_74810421GT>G uc004air.3 + 1 338 c.129_129GT>G c.(127-129)gtgfs p.V43fs GDA_uc011lse.2_5'UTR|GDA_uc004aiq.3_Frame_Shift_Del_p.V43fs|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_5'UTR|GDA_uc004ais.3_Splice_Site_p.M1_splice|GDA_uc004ait.1_Splice_Site NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 43 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TAAAGATAGTGTTTTTAGAAG 0.313 TLE1 7088 broad.mit.edu 37 9 84208132 84208132 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:84208131_84208131CG>C uc004alz.3 - 14 1861 c.1420_1420CG>G c.(1420-1422)gacfs p.D474fs TLE1_uc004aly.3_Frame_Shift_Del_p.D464fs|TLE1_uc011lsr.2_Frame_Shift_Del_p.D449fs|TLE1_uc004ama.1_Frame_Shift_Del_p.D463fs NM_005077 NP_005068 Q04724 TLE1_HUMAN Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA. 464 Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 ATGAGGGCGTCGGGGGGAAAA 0.562 ZCCHC6 79670 broad.mit.edu 37 9 88923493 88923494 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:88923492_88923493A>AT uc004aou.3 - 21 3827_3828 c.3689_3690T>AT c.(3688-3690)aatfs p.N1230fs ZCCHC6_uc010mqe.3_Frame_Shift_Ins_p.N130fs|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Ins_p.N1230fs|ZCCHC6_uc004aot.3_Frame_Shift_Ins_p.N994fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript NM_001185059 NP_078893 Q5VYS8 TUT7_HUMAN Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA. 1230 RNA 3'-end processing RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 CAGATTCTGTATTTTTTCCACA 0.356 NANS 54187 broad.mit.edu 37 9 100823161 100823162 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:100823160_100823161T>TG uc004ayc.3 + 1 361_362 c.229_230T>TG c.(229-231)tggfs p.W77fs NM_018946 NP_061819 Q9NR45 SIAS_HUMAN Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA. 77 lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 Acute lymphoblastic leukemia(62;0.0559) GAAGCATTCCTGGGGGAAGACG 0.525 DAB2IP 153090 broad.mit.edu 37 9 124522230 124522232 + In_Frame_Del DEL AAG AAG - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:124522229_124522231CAAG>C uc004bln.3 + 5 666_668 c.597_599CAAG>C c.(595-600)gccaag>gcCg p.K202del DAB2IP_uc004blo.3_In_Frame_Del_p.K106del NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA. 230 C2.|PH. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 ACCTGCCAGCCAAGAAGAAGTAC 0.606 RPL12 6136 broad.mit.edu 37 9 130211589 130211589 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:130211588_130211588TG>T uc004bqy.2 - 3 379 c.264_264CA>A c.(262-264)ccafs p.P88fs RPL12_uc004bqz.2_Frame_Shift_Del_p.P55fs|SNORA65_uc004bra.1_5'Flank|LRSAM1_uc004brb.2_5'Flank|LRSAM1_uc010mxk.2_5'Flank|LRSAM1_uc004brc.2_5'Flank|LRSAM1_uc004brd.2_5'Flank NM_000976 NP_000967 P30050 RL12_HUMAN Homo sapiens ribosomal protein L12 (RPL12), mRNA. 88 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 4 TGTCTCTTGGTGGTTCCTTGA 0.433 SH2D3C 10044 broad.mit.edu 37 9 130507273 130507274 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr9:130507272_130507273T>TG uc004bsc.3 - 6 1512_1513 c.1370_1371A>CA c.(1369-1371)ccafs p.P457fs SH2D3C_uc010mxo.3_Frame_Shift_Ins_p.P297fs|SH2D3C_uc004bry.3_Frame_Shift_Ins_p.P299fs|SH2D3C_uc004brz.4_Frame_Shift_Ins_p.P103fs|SH2D3C_uc011mak.2_Frame_Shift_Ins_p.P103fs|SH2D3C_uc004bsb.3_Frame_Shift_Ins_p.P389fs|SH2D3C_uc004bsa.3_Frame_Shift_Ins_p.P300fs NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA. 457 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CATGGGTCTTTGGGGCACTTCC 0.673 DIP2C 22982 broad.mit.edu 37 10 395273 395273 + Splice_Site DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:395272_395272TG>T uc001ifp.3 - 25 3199 c.3109_splice c.e25+1 p.G1037_splice DIP2C_uc009xhi.1_Splice_Site_p.G423_splice NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 1037 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CGCCTGTACCTGGGGGGTAGA 0.667 DIP2C 22982 broad.mit.edu 37 10 468915 468915 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:468914_468914TG>T uc001ifp.3 - 4 544 c.454_454CA>A c.(454-456)accfs p.T152fs DIP2C_uc009xhk.1_Frame_Shift_Del_p.P153fs NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA. 152 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TGGCTGGAGGTGGGGGTGCCC 0.582 PHYH 5264 broad.mit.edu 37 10 13325835 13325835 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:13325834_13325834TC>T uc001imf.3 - 6 772 c.684_684GA>A c.(682-684)ggafs p.G228fs PHYH_uc001ime.3_Frame_Shift_Del_p.G128fs NM_006214 NP_001032626 O14832 PAHX_HUMAN Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA. 228 fatty acid alpha-oxidation|nervous system development peroxisomal matrix L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TTTTGTTAACTCCCCCCTAGA 0.468 FRA10AC1 118924 broad.mit.edu 37 10 95445079 95445080 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:95445078_95445079C>CT uc001kiz.2 - 8 747_748 c.549_550G>AG c.(547-552)aaagaafs p.K183fs FRA10AC1_uc001kiv.2_Non-coding_Transcript NM_145246 NP_660289 Q70Z53 F10C1_HUMAN Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA. 183 Lys-rich. nucleus protein binding p.E184K(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 TTTAAGCCTTCTTTTTTATCAC 0.307 ITPRIP 85450 broad.mit.edu 37 10 106075480 106075480 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr10:106075479_106075479GC>G uc001kyf.3 - 2 784 c.331_331GC>C c.(331-333)cccfs p.P111fs ITPRIP_uc001kye.3_Frame_Shift_Del_p.P111fs|ITPRIP_uc001kyg.3_Frame_Shift_Del_p.P111fs|ITPRIP_uc021pxv.1_Frame_Shift_Del_p.P111fs NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA. 111 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 TCAGGTGAGGGCCCCTCCTGG 0.677 WEE1 7465 broad.mit.edu 37 11 9603177 9603177 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:9603176_9603176CT>C uc001mhs.3 + 5 1492 c.1239_1239CT>C c.(1237-1239)ggcfs p.G413fs WEE1_uc001mht.3_Frame_Shift_Del_p.G199fs NM_003390 NP_001137448 P30291 WEE1_HUMAN Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA. 413 Protein kinase. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity p.R412Q(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) TTGGCCGAGGCTTGAGGTATA 0.373 ARNTL 406 broad.mit.edu 37 11 13398237 13398237 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:13398236_13398236TC>T uc001mkr.3 + 15 1783 c.1375_1375TC>T c.(1375-1377)tccfs p.S459fs ARNTL_uc001mko.3_Frame_Shift_Del_p.S415fs|ARNTL_uc001mkp.3_Frame_Shift_Del_p.S458fs|ARNTL_uc001mkq.3_Frame_Shift_Del_p.S458fs|ARNTL_uc001mks.3_Frame_Shift_Del_p.S416fs|ARNTL_uc001mkt.3_Frame_Shift_Del_p.S459fs|ARNTL_uc001mkw.3_Frame_Shift_Del_p.S416fs|ARNTL_uc001mkx.3_Frame_Shift_Del_p.S457fs|ARNTL_uc001mky.3_5'UTR NM_001178 NP_001169 O00327 BMAL1_HUMAN Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA. 459 circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) GCTCACAGCATCCCCCCACAG 0.582 CHRM1 1128 broad.mit.edu 37 11 62677507 62677509 + In_Frame_Del DEL AGA AGA - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:62677506_62677508GAGA>G uc021qko.1 - 0 1065_1067 c.1065_1067TCTC>C c.(1063-1068)ttctcg>ttCg p.S356del CHRM1_uc001nwi.3_In_Frame_Del_p.S356del NM_000738 NP_000729 P11229 ACM1_HUMAN Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA. 356 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) CTTGACCAGCGAGAAGGTCTTCC 0.596 RPS6KA4 8986 broad.mit.edu 37 11 64129351 64129351 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:64129350_64129350TC>T uc001oae.3 + 7 865 c.782_782TC>T c.(781-783)ttcfs p.F261fs RPS6KA4_uc001oad.3_Frame_Shift_Del_p.F261fs|RPS6KA4_uc010rnl.2_Frame_Shift_Del_p.F198fs|RPS6KA4_uc001oaf.3_Frame_Shift_Del_p.F261fs|RPS6KA4_uc009ypp.3_Frame_Shift_Del_p.F261fs NM_003942 NP_003933 O75676 KS6A4_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA. 261 Protein kinase 1. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 TCCCCTCCCTTCCCCCCTCGG 0.692 MAP3K11 4296 broad.mit.edu 37 11 65375538 65375538 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:65375537_65375537CA>C uc001oew.3 - 2 1418 c.925_925TG>G c.(925-927)gggfs p.G309fs MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Frame_Shift_Del_p.G52fs|MAP3K11_uc001oex.1_5'UTR NM_002419 NP_002410 Q16584 M3K11_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA. 309 Protein kinase. G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 AGCAGCACCCCAAAACTGTGG 0.567 NUMA1 4926 broad.mit.edu 37 11 71746965 71746965 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:71746964_71746964GC>G uc001orl.1 - 2 198 c.26_26GC>C c.(25-27)gctfs p.A9fs NUMA1_uc001ork.1_Frame_Shift_Del_p.A9fs|NUMA1_uc001orm.1_Frame_Shift_Del_p.A9fs|NUMA1_uc009ysx.1_Frame_Shift_Del_p.A9fs|NUMA1_uc001oro.1_Frame_Shift_Del_p.A9fs|NUMA1_uc009ysy.2_Frame_Shift_Del_p.A9fs|NUMA1_uc001orp.3_Frame_Shift_Del_p.A9fs|NUMA1_uc001orq.3_Frame_Shift_Del_p.A9fs|NUMA1_uc021qmw.1_Frame_Shift_Del_p.A9fs NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 9 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GAGGAGTGCAGCCCCCCGGGT 0.507 T RARA APL ARHGEF17 9828 broad.mit.edu 37 11 73021527 73021527 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:73021526_73021526GC>G uc001otu.3 + 0 1864 c.1843_1843GC>G c.(1843-1845)gccfs p.A615fs NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 615 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 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGGAAGCGATGCCCCCCCTGG 0.617 DNAJB13 374407 broad.mit.edu 37 11 73676057 73676058 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:73676056_73676057C>CA uc001ouo.3 + 3 1219_1220 c.468_469C>CA c.(466-471)accaaafs p.T156fs NM_153614 NP_705842 P59910 DJB13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA. 156 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) TTGGCTGCACCAAAAAAATTAA 0.569 OREG0021218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SYTL2 54843 broad.mit.edu 37 11 85445089 85445089 + Frame_Shift_Del DEL A A - rs145312920 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:85445088_85445088TA>T uc010rth.2 - 5 1670 c.1281_1281TA>A c.(1279-1281)ttafs p.L427fs SYTL2_uc010rtg.2_Frame_Shift_Del_p.L428fs|SYTL2_uc010rti.2_Frame_Shift_Del_p.L427fs|SYTL2_uc010rtj.2_Frame_Shift_Del_p.L379fs|SYTL2_uc001pbf.4_Frame_Shift_Del_p.L427fs|SYTL2_uc010rtf.2_Frame_Shift_Del_p.L285fs NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA. 427 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GTCTTGCAGTTAAAACTTCTG 0.383 CUL5 8065 broad.mit.edu 37 11 107917013 107917014 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:107917012_107917013C>CA uc001pjv.3 + 2 817_818 c.150_151C>CA c.(148-153)gtctgtfs p.V50fs CUL5_uc001pju.3_Non-coding_Transcript NM_003478 NP_003469 Q93034 CUL5_HUMAN Homo sapiens cullin 5 (CUL5), mRNA. 50 VCL -> FCF (in Ref. 2; AAB70253). G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) TGCATGCAGTCTGTCTTTGGGA 0.337 UPK2 7379 broad.mit.edu 37 11 118827067 118827068 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:118827066_118827067A>AC uc001puh.3 + 0 59_60 c.6_7A>AC c.(4-9)gcacccfs p.A2fs NM_006760 NP_006751 O00526 UPK2_HUMAN Homo sapiens uroplakin 2 (UPK2), mRNA. 2 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CCAGCATGGCACCCCTGCTGCC 0.649 UPK2 7379 broad.mit.edu 37 11 118827661 118827661 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:118827660_118827660GC>G uc001puh.3 + 1 197 c.144_144GC>G c.(142-144)ttgfs p.L48fs NM_006760 NP_006751 O00526 UPK2_HUMAN Homo sapiens uroplakin 2 (UPK2), mRNA. 48 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) TGGTTGCCTTGCCCCCCTGTC 0.602 OREG0021391 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CCDC153 283152 broad.mit.edu 37 11 119061043 119061043 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr11:119061042_119061042AG>A uc010rze.2 - 6 814 c.600_600CT>T c.(598-600)cctfs p.P200fs NM_001145018 NP_001138490 Q494R4 CC153_HUMAN Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA. 200 lung(3)|stomach(1) 4 TCAAAGATCCAGGGGGGGTGA 0.572 ITPR2 3709 broad.mit.edu 37 12 26640150 26640151 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:26640149_26640150C>CT uc001rhg.3 - 39 5822_5823 c.5405_5406G>AG c.(5404-5406)aagfs p.K1802fs ITPR2_uc009zjg.1_5'UTR NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 1802 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ATTTTTCTGACTTTTTTTGTTC 0.327 DENND5B 160518 broad.mit.edu 37 12 31604973 31604974 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:31604972_31604973T>TA uc001rkh.1 - 6 1786_1787 c.1635_1636A>TA c.(1633-1638)tttacafs p.F545fs DENND5B_uc001rki.1_Frame_Shift_Ins_p.F510fs|DENND5B_uc001rkj.3_Frame_Shift_Ins_p.F532fs|DENND5B_uc001rkk.1_Frame_Shift_Ins_p.F432fs NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA. 510 dDENN. integral to membrane p.S545S(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AACATCTGTGTAAAACGGTTAG 0.450 MLL2 8085 broad.mit.edu 37 12 49438211 49438211 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:49438210_49438210GT>G uc001rta.4 - 19 5059 c.5059_5059AC>C c.(5059-5061)cgcfs p.R1687fs NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 1687 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 TTACGCTTGCGTTTTTTGCTT 0.597 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCNH3 23416 broad.mit.edu 37 12 49935520 49935520 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:49935519_49935519AG>A uc001ruh.1 + 2 677 c.417_417AG>A c.(415-417)cgafs p.R139fs KCNH3_uc010smj.1_Frame_Shift_Del_p.R79fs NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA. 139 PAC. regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CCAAGAACCGAGGGGGCCCCG 0.587 PRPF40B 25766 broad.mit.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:50025257_50025257TC>T uc001rur.1 + 1 155 c.92_92TC>T c.(91-93)atcfs p.I31fs PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA. 31 Pro-rich. RNA splicing|mRNA processing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCACCAGCTATCCCCCCCATG 0.607 AAAS 8086 broad.mit.edu 37 12 53701391 53701391 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:53701390_53701390AC>A uc001scr.4 - 15 1687 c.1524_1524GT>T c.(1522-1524)ggtfs p.G508fs AAAS_uc001scs.4_Frame_Shift_Del_p.G475fs NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA. 508 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 TAGAGCCTCCACCCCCAGCAG 0.617 LRP1 4035 broad.mit.edu 37 12 57572242 57572243 + Frame_Shift_Ins INS - - G rs139915490 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:57572241_57572242C>CG uc001snd.3 + 26 4927_4928 c.4461_4462C>CG c.(4459-4464)tacgggfs p.Y1487fs NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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 NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGGT 0.589 R3HDM2 22864 broad.mit.edu 37 12 57648750 57648750 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:57648749_57648749TC>T uc009zpm.1 - 21 2773 c.2738_2738GA>A c.(2737-2739)gacfs p.D913fs R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Frame_Shift_Del_p.D608fs|R3HDM2_uc001snr.2_Frame_Shift_Del_p.D640fs|R3HDM2_uc001sns.2_Frame_Shift_Del_p.D913fs|R3HDM2_uc001snt.2_Frame_Shift_Del_p.D927fs NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 913 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CCCACTGTTGTCCCCCCCACC 0.632 MBD6 114785 broad.mit.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:57921400_57921400AC>A uc001soj.1 + 7 2417 c.2193_2193AC>A c.(2191-2193)agafs p.R731fs MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 731 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 ACTCAGGGAGACCCCCCCAAC 0.602 CEP290 80184 broad.mit.edu 37 12 88443060 88443060 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:88443059_88443059GT>G uc001tar.3 - 53 7686 c.7342_7342AC>C c.(7342-7344)cttfs p.L2448fs CEP290_uc001taq.3_Frame_Shift_Del_p.L1508fs|C12orf29_uc001tao.3_3'UTR|C12orf29_uc001tap.3_Non-coding_Transcript|C12orf29_uc009zsk.3_Non-coding_Transcript NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 2448 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TGTTCTGAAAGTTTTTTTACC 0.313 VEZT 55591 broad.mit.edu 37 12 95660289 95660289 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr12:95660288_95660288TA>T uc001tdz.2 + 4 695 c.590_590TA>T c.(589-591)ctafs p.L197fs VEZT_uc001tds.3_Frame_Shift_Del_p.L149fs|VEZT_uc001tdv.3_Frame_Shift_Del_p.L166fs|VEZT_uc009zsy.1_Frame_Shift_Del_p.L39fs|VEZT_uc001tdr.2_Frame_Shift_Del_p.L39fs|VEZT_uc001tdt.2_Frame_Shift_Del_p.L149fs|VEZT_uc009zsz.1_Frame_Shift_Del_p.L197fs|VEZT_uc001tdw.1_Frame_Shift_Del_p.L149fs|VEZT_uc009zta.1_Frame_Shift_Del_p.L149fs NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA. 197 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CAAGTGACCCTAAAAAAATAC 0.423 PARP4 143 broad.mit.edu 37 13 25030500 25030500 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:25030499_25030499GT>G uc001upl.3 - 20 2648 c.2542_2542AC>C c.(2542-2544)catfs p.H848fs PARP4_uc010tdc.2_Frame_Shift_Del_p.H848fs NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 848 DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TTTTCTGGATGTTTTTCAACC 0.393 BRCA2 675 broad.mit.edu 37 13 32911074 32911075 + Frame_Shift_Ins INS - - A rs80359335 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:32911073_32911074C>CA uc001uub.1 + 10 2808_2809 c.2581_2582C>CA c.(2581-2583)caafs p.Q861fs NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 861 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGAGTAATCCAAAAAAATCAA 0.322 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) PDS5B 23047 broad.mit.edu 37 13 33344286 33344286 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:33344285_33344285GA>G uc010abf.3 + 31 3837 c.3651_3651GA>G c.(3649-3651)aggfs p.R1217fs PDS5B_uc010abg.3_Non-coding_Transcript NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA. 1217 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CTAGAGGCAGGAAAAAAACGC 0.388 CAB39L 81617 broad.mit.edu 37 13 49933960 49933960 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:49933959_49933959CT>C uc001vcw.3 - 3 784 c.286_286AG>G c.(286-288)gatfs p.D96fs CAB39L_uc001vcx.3_Frame_Shift_Del_p.D96fs|CAB39L_uc010adf.3_Frame_Shift_Del_p.D93fs NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA. 96 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) TGGGTCACATCTTTTTTTCCC 0.333 MYCBP2 23077 broad.mit.edu 37 13 77844149 77844149 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:77844148_77844148CT>C uc021rks.1 - 6 1506 c.1239_1239AG>G c.(1237-1239)aagfs p.K413fs MYCBP2_uc010aev.3_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTAACCAAGACTTTTTTTCTT 0.294 RAB20 55647 broad.mit.edu 37 13 111176500 111176500 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr13:111176499_111176499GC>G uc001vqy.3 - 1 423 c.218_218GC>C c.(217-219)gcgfs p.A73fs NM_017817 NP_060287 Q9NX57 RAB20_HUMAN Homo sapiens RAB20, member RAS oncogene family (RAB20), mRNA. 73 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(2)|large_intestine(2)|lung(3) 7 all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197) GATGGCGGCCGCCCCCCGGCA 0.607 SUPT16H 11198 broad.mit.edu 37 14 21820850 21820851 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:21820849_21820850T>TG uc001wao.2 - 25 3465_3466 c.3126_3127A>CA c.(3124-3129)cccaagfs p.P1042fs SUPT16H_uc001wan.2_Frame_Shift_Ins_p.P186fs NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA. 1042 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTCTTTTTCTTGGGGGGTGCAG 0.480 HEATR5A 25938 broad.mit.edu 37 14 31856515 31856515 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:31856514_31856514GA>G uc001wrf.4 - 7 1186 c.1001_1001TC>C c.(1000-1002)tctfs p.S334fs HEATR5A_uc010ami.3_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.S334fs NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA. 328 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TAGGATATGAGAAAAAAAGGC 0.403 BAZ1A 11177 broad.mit.edu 37 14 35245128 35245129 + Frame_Shift_Ins INS - - A TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:35245127_35245128G>GA uc001wsk.3 - 17 3398_3399 c.2830_2831C>TC c.(2830-2832)tcafs p.S944fs BAZ1A_uc001wsl.3_Frame_Shift_Ins_p.S912fs NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA. 944 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 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) AAATTTACCTGAAAAATGAAAT 0.332 FBXO33 254170 broad.mit.edu 37 14 39871612 39871613 + Frame_Shift_Ins INS - - T TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:39871611_39871612A>AT uc001wvk.3 - 1 1041_1042 c.703_704T>AT c.(703-705)attfs p.I235fs NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN Homo sapiens F-box protein 33 (FBXO33), mRNA. 235 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) TTACTGTTTAATTTTTTTGCCA 0.322 PELI2 57161 broad.mit.edu 37 14 56757067 56757067 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:56757066_56757066AG>A uc001xch.3 + 4 874 c.588_588AG>A c.(586-588)cgafs p.R196fs NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA. 196 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 TGCATCCACGAGGGGGCTTCA 0.587 ZBTB1 22890 broad.mit.edu 37 14 64988802 64988802 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:64988801_64988801TA>T uc021rul.1 + 0 579 c.579_579TA>T c.(577-579)tgtfs p.C193fs ZBTB1_uc001xhh.4_Frame_Shift_Del_p.C193fs|ZBTB1_uc010aqg.3_Frame_Shift_Del_p.C193fs|ZBTB1_uc001xhi.2_Frame_Shift_Del_p.C193fs|ZBTB1_uc021rum.1_5'Flank NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA. 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) TTGATGTATGTAAAAAAAGTT 0.403 PLEKHH1 57475 broad.mit.edu 37 14 68053850 68053851 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:68053849_68053850A>AC uc001xjl.1 + 28 4134_4135 c.3992_3993A>AC c.(3991-3993)aacfs p.N1331fs PLEKHH1_uc010tsw.1_Frame_Shift_Ins_p.N899fs|PLEKHH1_uc001xjn.1_Frame_Shift_Ins_p.N846fs|PLEKHH1_uc010tsx.1_Frame_Shift_Ins_p.E272fs|PLEKHH1_uc001xjo.1_3'UTR|PLEKHH1_uc001xjp.1_Frame_Shift_Ins_p.N196fs NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA. 1331 FERM. cytoskeleton binding p.P1330T(1) endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) ACAACTGTGAACCCCCCCACCA 0.515 YLPM1 56252 broad.mit.edu 37 14 75230562 75230562 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:75230561_75230561CA>C uc001xqj.4 + 0 493 c.369_369CA>C c.(367-369)tacfs p.Y123fs NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 123 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGCAGCAGTACAAACACCAGA 0.667 PGF 5228 broad.mit.edu 37 14 75412941 75412942 + Frame_Shift_Del DEL TC TC - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:75412940_75412941TTC>T uc001xqz.3 - 5 982_983 c.460_461GAA>A c.(460-462)aagfs p.K154fs PGF_uc001xrb.3_Intron NM_002632 NP_002623 P49763 PLGF_HUMAN Homo sapiens placental growth factor (PGF), transcript variant 1, mRNA. 208 angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway extracellular region|membrane growth factor activity|heparin binding kidney(1)|large_intestine(3)|lung(3)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.00668) GGGTCTCTGCTTCTCTCTCCTC 0.653 OREG0022810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FOXN3 1112 broad.mit.edu 37 14 89878534 89878534 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr14:89878533_89878533TG>T uc001xxo.4 - 1 425 c.288_288CA>A c.(286-288)ccafs p.P96fs FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs NM_001085471 NP_001078940 O00409 FOXN3_HUMAN Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA. 96 DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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 p.P96fs*42(2) endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGGCAGGGGATGGGGGGGTGT 0.587 ATP2A1 487 broad.mit.edu 37 16 28909397 28909397 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:28909396_28909396TC>T uc002dro.1 + 12 1679 c.1495_1495TC>T c.(1495-1497)tccfs p.S499fs NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Del_p.S499fs|ATP2A1_uc002drp.1_Frame_Shift_Del_p.S374fs NM_173201 NP_775293 O14983 AT2A1_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. 499 ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 TGTCTATTGCTCCCCAGCCAA 0.537 CDH16 1014 broad.mit.edu 37 16 66947519 66947520 + Splice_Site INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:66947518_66947519T>TG uc002eql.3 - 8 975 c.781_splice c.e8-1 p.V261_splice CDH16_uc010cdy.3_Splice_Site_p.V261_splice|CDH16_uc021tjx.1_Splice_Site_p.V261_splice|CDH16_uc002eqm.3_Splice_Site_p.V164_splice NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 261 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCAGTGTACCTGGGGGGGACAC 0.594 PLA2G15 23659 broad.mit.edu 37 16 68289855 68289855 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:68289854_68289854TG>T uc002evr.3 + 4 771 c.688_688TG>T c.(688-690)tggfs p.W230fs PLA2G15_uc010vld.2_Frame_Shift_Del_p.L188fs|PLA2G15_uc010vle.2_Frame_Shift_Del_p.W136fs|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_Frame_Shift_Del_p.W51fs NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA. 230 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 GGGTGCGCCCTGGGGGGGCGT 0.632 ATP2C2 9914 broad.mit.edu 37 16 84472790 84472809 + Frame_Shift_Del DEL TCCAGAGGGTCTGCCCATCG TCCAGAGGGTCTGCCCATCG - rs79209156 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:84472789_84472808TTCCAGAGGGTCTGCCCATCG>T uc010chj.3 + 11 1093_1112 c.1004_1023TTCCAGAGGGTCTGCCCATCG>T c.(1003-1023)attccagagggtctgcccatcfs p.I335fs ATP2C2_uc002fhx.3_Frame_Shift_Del_p.I335fs|ATP2C2_uc002fhy.3_Frame_Shift_Del_p.I352fs|ATP2C2_uc002fhz.3_Frame_Shift_Del_p.I184fs NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 335 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GTGGCGGCCATTCCAGAGGGTCTGCCCATCGTCGTCATGG 0.564 KIAA1609 57707 broad.mit.edu 37 16 84514303 84514304 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:84514302_84514303G>GC uc002fib.3 - 6 1196_1197 c.1089_1090C>GC c.(1087-1092)gggcagfs p.G363fs KIAA1609_uc010vod.2_Frame_Shift_Ins_p.G336fs NM_020947 NP_065998 Q6P9B6 K1609_HUMAN Homo sapiens KIAA1609 (KIAA1609), mRNA. 363 TLD. protein binding endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2) 18 TAATTGTGCTGCCCCCCCATAC 0.550 SPATA2L 124044 broad.mit.edu 37 16 89764374 89764374 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr16:89764373_89764373CG>C uc002foj.3 - 2 731 c.644_644CG>G c.(643-645)cgafs p.R215fs SPATA2L_uc002fok.3_Intron NM_152339 NP_689552 Q8IUW3 SPA2L_HUMAN Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA. 215 breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1) 6 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) AGGGGAGCCTCGGGGGGGCAG 0.701 ITGAE 3682 broad.mit.edu 37 17 3655036 3655036 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:3655035_3655035AG>A uc002fwo.4 - 14 1901 c.1802_1802CT>T c.(1801-1803)ctgfs p.L601fs NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 601 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AAAACCTTCCAGGGGGGCCCC 0.612 DNAH2 146754 broad.mit.edu 37 17 7736238 7736238 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:7736237_7736237TC>T uc002giu.1 + 82 12983 c.12969_12969TC>T c.(12967-12969)tatfs p.Y4323fs NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 4323 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCTAGTGTATCCCCCCAAGG 0.542 NLK 51701 broad.mit.edu 37 17 26449740 26449740 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:26449739_26449739GT>G uc010crj.3 + 1 781 c.569_569GT>G c.(568-570)tgtfs p.C190fs NM_016231 NP_057315 Q9UBE8 NLK_HUMAN Homo sapiens nemo-like kinase (NLK), mRNA. 190 Protein kinase. Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AAGATGTTGTGTTTTTTTAAG 0.388 SEZ6 124925 broad.mit.edu 37 17 27284224 27284225 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:27284223_27284224A>AG uc002hdp.2 - 12 2725_2726 c.2531_2532T>CT c.(2530-2532)cctfs p.P844fs SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Ins_p.P844fs|SEZ6_uc002hdq.1_Frame_Shift_Ins_p.P719fs NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA. 844 Sushi 5. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CACCATTCTCAGGGGCACTGAG 0.589 NKIRAS2 28511 broad.mit.edu 37 17 40174601 40174602 + Frame_Shift_Del DEL TT TT - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:40174600_40174601CTT>C uc002hyq.3 + 2 343_344 c.278_279CTT>C c.(277-279)tctfs p.S93fs NKIRAS2_uc010wgd.2_Frame_Shift_Del_p.L61fs|NKIRAS2_uc002hyr.3_Frame_Shift_Del_p.S93fs|NKIRAS2_uc002hys.3_Frame_Shift_Del_p.S93fs|NKIRAS2_uc010wge.2_Intron|NKIRAS2_uc002hyt.3_Frame_Shift_Del_p.S93fs NM_001001349 NP_060065 Q9NYR9 KBRS2_HUMAN Homo sapiens NFKB inhibitor interacting Ras-like 2 (NKIRAS2), transcript variant 1, mRNA. 93 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) AGCAGAGAGTCTTTTCAGCGTG 0.550 HEXIM2 124790 broad.mit.edu 37 17 43240210 43240211 + Frame_Shift_Ins INS - - C TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:43240209_43240210G>GC uc010daf.1 + 1 140_141 c.115_116G>GC c.(115-117)gccfs p.A39fs HEXIM2_uc002iih.1_Frame_Shift_Ins_p.A17fs|HEXIM2_uc002iii.1_Frame_Shift_Ins_p.A17fs|HEXIM2_uc002iij.1_Frame_Shift_Ins_p.A17fs NM_144608 NP_653209 Q96MH2 HEXI2_HUMAN Homo sapiens hexamethylene bis-acetamide inducible 2 (HEXIM2), mRNA. 17 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding endometrium(1)|large_intestine(3)|lung(1) 5 GTCACCAGTGGCCCTGGAGGAG 0.564 TRIM25 7706 broad.mit.edu 37 17 54969424 54969424 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr17:54969423_54969423TC>T uc002iut.3 - 8 1591 c.1531_1531GA>A c.(1531-1533)atcfs p.I511fs TRIM25_uc010dcj.3_Frame_Shift_Del_p.I303fs|TRIM25_uc021uaj.1_5'Flank NM_005082 NP_005073 Q14258 TRI25_HUMAN Homo sapiens tripartite motif containing 25 (TRIM25), mRNA. 511 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) CAGTAGTGGATCCCCTTCTTG 0.587 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f 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 CEP192 55125 broad.mit.edu 37 18 13052949 13052950 + In_Frame_Ins INS - - CAG TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:13052948_13052949T>TCAG uc010xac.2 + 17 3128_3129 c.3048_3049T>TCAG c.(3046-3051)gctcag>gcTCAGag p.1016_1017AQ>AQ CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_In_Frame_Ins_p.541_542AQ>AQ|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'Flank|CEP192_uc002krs.1_In_Frame_Ins_p.757_758AQ>AQ NM_032142 NP_115518 B7ZMF0 B7ZMF0_HUMAN Homo sapiens centrosomal protein 192kDa (CEP192), mRNA. 611 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GTTCAGCAGCTCAGCAGCAGCA 0.525 ASXL3 80816 broad.mit.edu 37 18 31319986 31319986 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:31319985_31319985GA>G uc010dmg.1 + 10 2672 c.2617_2617GA>G c.(2617-2619)gaafs p.E873fs ASXL3_uc002kxq.2_Frame_Shift_Del_p.E580fs NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 873 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GCAAAGAACAGAAAAAAAAGT 0.378 DTNA 1837 broad.mit.edu 37 18 32455332 32455332 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:32455331_32455331AG>A uc010dmn.1 + 16 1792 c.1791_1791AG>A c.(1789-1791)gtafs p.V597fs DTNA_uc002kxw.2_Frame_Shift_Del_p.V540fs|DTNA_uc002kxz.2_Frame_Shift_Del_p.V544fs|DTNA_uc002kxy.2_Frame_Shift_Del_p.V537fs|DTNA_uc010dmj.3_Frame_Shift_Del_p.V537fs|DTNA_uc010xby.1_Frame_Shift_Del_p.V287fs|DTNA_uc002kye.3_Frame_Shift_Del_p.V245fs|DTNA_uc010xca.2_Frame_Shift_Del_p.V249fs|DTNA_uc010xbz.2_Frame_Shift_Del_p.V306fs NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA. 597 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TCACAGGAGTAGGGGGAGATG 0.542 MOCOS 55034 broad.mit.edu 37 18 33780119 33780139 + In_Frame_Del DEL TCCCCATCTCCTTCTATAAGA TCCCCATCTCCTTCTATAAGA - rs148137052 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:33780118_33780138GTCCCCATCTCCTTCTATAAGA>G uc002kzq.4 + 3 795_815 c.772_792GTCCCCATCTCCTTCTATAAGA>G c.(772-792)gtccccatctccttctataag>G p.VPISFYK258del NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA. 258 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) GGCCGACTTTGTCCCCATCTCCTTCTATAAGATCTTCGGGT 0.584 SETBP1 26040 broad.mit.edu 37 18 42281720 42281720 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:42281719_42281719TG>T uc010dni.3 + 1 704 c.408_408TG>T c.(406-408)tctfs p.S136fs SETBP1_uc002lay.3_Frame_Shift_Del_p.S136fs NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 136 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TCAAGCAGTCTGGGGACCAGA 0.463 Schinzel-Giedion syndrome ADNP2 22850 broad.mit.edu 37 18 77894261 77894261 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr18:77894260_77894260TC>T uc002lnw.3 + 3 1419 c.964_964TC>T c.(964-966)tccfs p.S322fs NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 322 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A325fs*59(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CCTCACTCATTCCCCCCCTGC 0.642 ABCA7 10347 broad.mit.edu 37 19 1058906 1058906 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:1058905_1058905AG>A uc002lqw.4 + 38 5597 c.5366_5366AG>A c.(5365-5367)cagfs p.Q1789fs ABCA7_uc002lqy.3_Frame_Shift_Del_p.Q242fs|ABCA7_uc010dsc.3_Non-coding_Transcript NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA. 1789 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 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) GGAGCCACCCAGGGGGATGTG 0.622 PIAS4 51588 broad.mit.edu 37 19 4037644 4037644 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:4037643_4037643GC>G uc002lzg.3 + 10 1313 c.1303_1303GC>G c.(1303-1305)gccfs p.A435fs NM_015897 NP_056981 Q8N2W9 PIAS4_HUMAN Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA. 435 Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent PML body|cytoplasm DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCTGCCCGCCCCCAGCGT 0.682 C19orf70 125988 broad.mit.edu 37 19 5679654 5679654 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:5679653_5679653CG>C uc002mch.1 - 1 565 c.151_151CG>G c.(151-153)gccfs p.A51fs C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank NM_205767 NP_991330 Q5XKP0 QIL1_HUMAN Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA. 51 protein binding endometrium(1)|lung(1) 2 TGGTACATGGCGGGGGGGACC 0.667 C3 718 broad.mit.edu 37 19 6697481 6697481 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:6697480_6697480TG>T uc002mfm.3 - 20 2733 c.2671_2671CA>A c.(2671-2673)aagfs p.K891fs NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 891 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AACGAGGACTTGGGGGGGATG 0.577 MAP2K7 5609 broad.mit.edu 37 19 7976149 7976149 + Frame_Shift_Del DEL C C - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:7976148_7976148AC>A uc002mit.3 + 7 934 c.869_869AC>A c.(868-870)gacfs p.D290fs MAP2K7_uc002miv.2_Frame_Shift_Del_p.D290fs|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Frame_Shift_Del_p.D165fs|MAP2K7_uc010xkb.2_Frame_Shift_Del_p.D290fs NM_145185 NP_660186 O14733 MP2K7_HUMAN Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA. 290 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D290D(1) breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) GAGCGCATTGACCCCCCAGAC 0.701 ZNF878 729747 broad.mit.edu 37 19 12155504 12155504 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:12155503_12155503GA>G uc021upl.1 - 3 879 c.713_713TC>C c.(712-714)tctfs p.S238fs ZNF878_uc002mta.1_Frame_Shift_Del_p.S285fs NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN Homo sapiens zinc finger protein 878 (ZNF878), mRNA. 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CGAACTGGGAGAAAAAAAGGC 0.393 FFAR2 2867 broad.mit.edu 37 19 35941540 35941541 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:35941539_35941540A>AG uc002nzg.2 + 1 1003_1004 c.923_924A>AG c.(922-924)gagfs p.E308fs FFAR2_uc010eea.3_Frame_Shift_Ins_p.E308fs NM_005306 NP_005297 O15552 FFAR2_HUMAN Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA. 308 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GACACAGCAGAGGGGACAAATG 0.579 ZNF234 10780 broad.mit.edu 37 19 44660629 44660629 + Frame_Shift_Del DEL A A - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:44660628_44660628CA>C uc002oym.3 + 5 766 c.459_459CA>C c.(457-459)tacfs p.Y153fs ZNF234_uc002oyl.4_Frame_Shift_Del_p.Y153fs NM_006630 NP_006621 Q14588 ZN234_HUMAN Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA. 153 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E152D(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) GTGATGAGTACAAAAAATCCT 0.408 FAM83E 54854 broad.mit.edu 37 19 49107038 49107038 + Frame_Shift_Del DEL G G - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:49107037_49107037TG>T uc002pjn.2 - 3 955 c.890_890CA>A c.(889-891)cagfs p.Q297fs SPACA4_uc002pjo.3_5'Flank NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA. 297 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CGAGGGTTTCTGGGGGGGCGC 0.726 MAMSTR 284358 broad.mit.edu 37 19 49218106 49218107 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr19:49218105_49218106T>TG uc002pkg.2 - 5 547_548 c.485_486A>CA c.(484-486)ccafs p.P162fs MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs NM_001130915 NP_872380 Q6ZN01 MASTR_HUMAN Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA. 162 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 CCAACTTGTGTGGGGGGGGCGA 0.569 EDN3 1908 broad.mit.edu 37 20 57897444 57897445 + Frame_Shift_Ins INS - - A rs11570344 TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:57897443_57897444G>GA uc002yap.3 + 3 928_929 c.559_560G>GA c.(559-561)gaafs p.E187fs EDN3_uc002yao.1_Intron|EDN3_uc002yaq.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yar.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yas.3_Intron NM_000114 NP_996917 P14138 EDN3_HUMAN Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. 187 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) AAGGACGGCAGAAAAAACAGAC 0.490 SYCP2 10388 broad.mit.edu 37 20 58490593 58490593 + Frame_Shift_Del DEL T T - TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr20:58490592_58490592AT>A uc002yaz.3 - 7 666 c.527_527AT>T c.(526-528)atgfs p.M176fs SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 176 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CATAGCATTCATTTTTTTTAT 0.284 SCUBE1 80274 broad.mit.edu 37 22 43634963 43634964 + Splice_Site INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chr22:43634962_43634963T>TG uc003bdt.2 - 7 855 c.728_splice c.e7-1 p.E243_splice SCUBE1_uc003bdu.2_Intron NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 243 EGF-like 6 (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 autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CGCACGTCTCTGGGGAGGGAAA 0.589 IL2RG 3561 broad.mit.edu 37 X 70327614 70327615 + Frame_Shift_Ins INS - - G TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:70327613_70327614T>TG uc004dyw.2 - 7 1174_1175 c.1082_1083A>CA c.(1081-1083)ccafs p.P361fs CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Frame_Shift_Ins_p.P90fs|IL2RG_uc004dyx.2_Frame_Shift_Ins_p.P171fs NM_000206 NP_000197 P31785 IL2RG_HUMAN Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA. 361 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) GGGTGTAACATGGGGGGGCCCA 0.584 Severe Combined Immunodeficiency, X-linked PRRG3 79057 broad.mit.edu 37 X 150869297 150869298 + Frame_Shift_Ins INS - - G rs139807152 byFrequency TCGA-BR-8360-01A-11D-2340-08 TCGA-BR-8360-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdcd47c0-be85-4fef-81fa-0b9a2f02b76b c4253b55-6a17-4168-9ec4-49773cb08f7f g.chrX:150869296_150869297C>CG uc022cgt.1 + 3 536_537 c.487_488C>CG c.(487-489)cggfs p.R163fs PRRG3_uc004few.2_Frame_Shift_Ins_p.R163fs NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA. 163 extracellular region|integral to membrane calcium ion binding p.R163P(2) 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) GGGGCCCAGTCGGGGGGGCAGG 0.673